diff --git a/Makefile b/Makefile index e57b18111..c9a6cdbef 100644 --- a/Makefile +++ b/Makefile @@ -77,7 +77,7 @@ install-frontend: .PHONY: model model: install-backend - $(RUN) gen-pydantic --pydantic-version 2 --extra-fields allow $(SCHEMADIR)/model.yaml > $(SCHEMADIR)/model.py + $(RUN) gen-pydantic --extra-fields allow $(SCHEMADIR)/model.yaml > $(SCHEMADIR)/model.py $(RUN) gen-typescript $(SCHEMADIR)/model.yaml > frontend/src/api/model.ts make format diff --git a/backend/poetry.lock b/backend/poetry.lock index 6db9bbe50..ff4a322e6 100644 --- a/backend/poetry.lock +++ b/backend/poetry.lock @@ -1706,13 +1706,13 @@ regex = ["regex"] [[package]] name = "linkml" -version = "1.7.10" +version = "1.8.3" description = "Linked Open Data Modeling Language" optional = false python-versions = "<4.0.0,>=3.8.1" files = [ - {file = "linkml-1.7.10-py3-none-any.whl", hash = "sha256:bf21cce814e9d1509489f1e6e15a7e86e4f11d949490d9a7a5c3f6b5b412ec62"}, - {file = "linkml-1.7.10.tar.gz", hash = "sha256:1c38601c3cd495e34490b8cf7277fd3674ec68dcbe9f5efcec2658093801ce91"}, + {file = "linkml-1.8.3-py3-none-any.whl", hash = "sha256:ced1af3055312d15335cfe8846847c0491519c9af28cce5ebd8e4e26e4361754"}, + {file = "linkml-1.8.3.tar.gz", hash = "sha256:6bf65f3d6c4ce9e88af0fda71b954ae4c6f5e885f8b4d74c1090380d565e76ba"}, ] [package.dependencies] @@ -1725,7 +1725,7 @@ jinja2 = ">=3.1.0" jsonasobj2 = ">=1.0.3,<2.0.0" jsonschema = {version = ">=4.0.0", extras = ["format"]} linkml-dataops = "*" -linkml-runtime = ">=1.7.4" +linkml-runtime = ">=1.8.1,<2.0.0" openpyxl = "*" parse = "*" prefixcommons = ">=0.1.7" @@ -1783,13 +1783,13 @@ pydantic = "*" [[package]] name = "linkml-runtime" -version = "1.7.5" +version = "1.8.3" description = "Runtime environment for LinkML, the Linked open data modeling language" optional = false python-versions = "<4.0,>=3.8" files = [ - {file = "linkml_runtime-1.7.5-py3-none-any.whl", hash = "sha256:c58000c7c68fa97b7d76c50421a85a64e25f07eec5bcac464bc00c4cd79007a6"}, - {file = "linkml_runtime-1.7.5.tar.gz", hash = "sha256:b31197a5398359441ae1ed43470c54377a1d08db961366dda670300dddcd71d7"}, + {file = "linkml_runtime-1.8.3-py3-none-any.whl", hash = "sha256:0750920f1348fffa903d99e7b5834ce425a2a538285aff9068dbd96d05caabd1"}, + {file = "linkml_runtime-1.8.3.tar.gz", hash = "sha256:5b7f682eef54aaf0a59c50eeacdb11463b43b124a044caf496cde59936ac05c8"}, ] [package.dependencies] @@ -5338,4 +5338,4 @@ testing = ["big-O", "jaraco.functools", "jaraco.itertools", "jaraco.test", "more [metadata] lock-version = "2.0" python-versions = "^3.9" -content-hash = "68d50837c30fbb81c95be058e170382667c6f07d7fec7c4d75e65e53d09f0297" +content-hash = "77d53dfcd9d6085bd4c8a247b59f56ea73eb6ba04a9eebd4601edbb6410a8ac8" diff --git a/backend/pyproject.toml b/backend/pyproject.toml index 7319ec737..1b70049ab 100644 --- a/backend/pyproject.toml +++ b/backend/pyproject.toml @@ -17,7 +17,7 @@ packages = [{ include = "monarch_py", from = "src" }] python = "^3.9" pydantic = "^2" curies = "<1" -linkml = "^1.7.10" +linkml = "1.8.3" prefixmaps = "^0.2" bioregistry = "^0.10.57" oaklib = ">=0.6.6" diff --git a/backend/src/monarch_py/datamodels/model.py b/backend/src/monarch_py/datamodels/model.py index 0253868e8..b453f149f 100644 --- a/backend/src/monarch_py/datamodels/model.py +++ b/backend/src/monarch_py/datamodels/model.py @@ -1,16 +1,11 @@ from __future__ import annotations -from datetime import datetime, date +from datetime import datetime, date, time +from decimal import Decimal from enum import Enum -from typing import List, Dict, Optional, Any, Union -from pydantic import BaseModel as BaseModel, ConfigDict, Field, field_validator import re import sys - -if sys.version_info >= (3, 8): - from typing import Literal -else: - from typing_extensions import Literal - +from typing import Any, ClassVar, List, Literal, Dict, Optional, Union +from pydantic import BaseModel, ConfigDict, Field, RootModel, field_validator metamodel_version = "None" version = "None" @@ -23,7 +18,43 @@ class ConfiguredBaseModel(BaseModel): extra="allow", arbitrary_types_allowed=True, use_enum_values=True, + strict=False, ) + pass + + +class LinkMLMeta(RootModel): + root: Dict[str, Any] = {} + model_config = ConfigDict(frozen=True) + + def __getattr__(self, key: str): + return getattr(self.root, key) + + def __getitem__(self, key: str): + return self.root[key] + + def __setitem__(self, key: str, value): + self.root[key] = value + + def __contains__(self, key: str) -> bool: + return key in self.root + + +linkml_meta = LinkMLMeta( + { + "default_prefix": "https://w3id.org/monarch/monarch-py/", + "default_range": "string", + "description": "Data models for the Monarch Initiative data access library", + "id": "https://w3id.org/monarch/monarch-py", + "imports": ["linkml:types", "similarity"], + "name": "monarch-py", + "prefixes": { + "biolink": {"prefix_prefix": "biolink", "prefix_reference": "https://w3id.org/biolink/vocab/"}, + "linkml": {"prefix_prefix": "linkml", "prefix_reference": "https://w3id.org/linkml/"}, + }, + "source_file": "/Users/kschaper/Monarch/monarch-app/backend/src/monarch_py/datamodels/model.yaml", + } +) class AssociationDirectionEnum(str, Enum): @@ -37,157 +68,803 @@ class AssociationDirectionEnum(str, Enum): outgoing = "outgoing" +class PairwiseSimilarity(ConfiguredBaseModel): + """ + Abstract grouping for representing individual pairwise similarities + """ + + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + {"abstract": True, "from_schema": "https://w3id.org/monarch/monarch-py-similarity"} + ) + + pass + + +class TermPairwiseSimilarity(PairwiseSimilarity): + """ + A simple pairwise similarity between two atomic concepts/terms + """ + + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py-similarity"}) + + subject_id: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "subject_id", "domain_of": ["TermPairwiseSimilarity", "Mapping"]}}, + ) + subject_label: Optional[str] = Field( + None, + description="""The name of the subject entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "subject_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, + ) + subject_source: Optional[str] = Field( + None, + description="""the source for the first entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "subject_source", + "domain_of": ["TermPairwiseSimilarity"], + "slot_uri": "sssom:subject_source", + } + }, + ) + object_id: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "object_id", "domain_of": ["TermPairwiseSimilarity", "Mapping"]}}, + ) + object_label: Optional[str] = Field( + None, + description="""The name of the object entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "object_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, + ) + object_source: Optional[str] = Field( + None, + description="""the source for the second entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "object_source", + "domain_of": ["TermPairwiseSimilarity"], + "slot_uri": "sssom:object_source", + } + }, + ) + ancestor_id: Optional[str] = Field( + None, + description="""the most recent common ancestor of the two compared entities. If there are multiple MRCAs then the most informative one is selected""", + json_schema_extra={ + "linkml_meta": { + "alias": "ancestor_id", + "domain_of": ["TermPairwiseSimilarity"], + "todos": ["decide on what to do when there are multiple possible ancestos"], + } + }, + ) + ancestor_label: Optional[str] = Field( + None, + description="""the name or label of the ancestor concept""", + json_schema_extra={"linkml_meta": {"alias": "ancestor_label", "domain_of": ["TermPairwiseSimilarity"]}}, + ) + ancestor_source: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "ancestor_source", "domain_of": ["TermPairwiseSimilarity"]}} + ) + object_information_content: Optional[float] = Field( + None, + description="""The IC of the object""", + json_schema_extra={ + "linkml_meta": { + "alias": "object_information_content", + "domain_of": ["TermPairwiseSimilarity"], + "is_a": "information_content", + } + }, + ) + subject_information_content: Optional[float] = Field( + None, + description="""The IC of the subject""", + json_schema_extra={ + "linkml_meta": { + "alias": "subject_information_content", + "domain_of": ["TermPairwiseSimilarity"], + "is_a": "information_content", + } + }, + ) + ancestor_information_content: Optional[float] = Field( + None, + description="""The IC of the object""", + json_schema_extra={ + "linkml_meta": { + "alias": "ancestor_information_content", + "domain_of": ["TermPairwiseSimilarity"], + "is_a": "information_content", + } + }, + ) + jaccard_similarity: Optional[float] = Field( + None, + description="""The number of concepts in the intersection divided by the number in the union""", + json_schema_extra={ + "linkml_meta": {"alias": "jaccard_similarity", "domain_of": ["TermPairwiseSimilarity"], "is_a": "score"} + }, + ) + cosine_similarity: Optional[float] = Field( + None, + description="""the dot product of two node embeddings divided by the product of their lengths""", + json_schema_extra={ + "linkml_meta": {"alias": "cosine_similarity", "domain_of": ["TermPairwiseSimilarity"], "is_a": "score"} + }, + ) + dice_similarity: Optional[float] = Field( + None, + json_schema_extra={ + "linkml_meta": {"alias": "dice_similarity", "domain_of": ["TermPairwiseSimilarity"], "is_a": "score"} + }, + ) + phenodigm_score: Optional[float] = Field( + None, + description="""the geometric mean of the jaccard similarity and the information content""", + json_schema_extra={ + "linkml_meta": { + "alias": "phenodigm_score", + "domain_of": ["TermPairwiseSimilarity"], + "equals_expression": "sqrt({jaccard_similarity} * {information_content})", + "is_a": "score", + } + }, + ) + + +class TermSetPairwiseSimilarity(PairwiseSimilarity): + """ + A simple pairwise similarity between two sets of concepts/terms + """ + + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py-similarity"}) + + subject_termset: Optional[Dict[str, Union[str, TermInfo]]] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "subject_termset", "domain_of": ["TermSetPairwiseSimilarity"]}}, + ) + object_termset: Optional[Dict[str, Union[str, TermInfo]]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "object_termset", "domain_of": ["TermSetPairwiseSimilarity"]}} + ) + subject_best_matches: Optional[Dict[str, BestMatch]] = Field( + None, + json_schema_extra={ + "linkml_meta": {"alias": "subject_best_matches", "domain_of": ["TermSetPairwiseSimilarity"]} + }, + ) + object_best_matches: Optional[Dict[str, BestMatch]] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "object_best_matches", "domain_of": ["TermSetPairwiseSimilarity"]}}, + ) + average_score: Optional[float] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "average_score", "domain_of": ["TermSetPairwiseSimilarity"]}} + ) + best_score: Optional[float] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "best_score", "domain_of": ["TermSetPairwiseSimilarity"]}} + ) + metric: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "metric", "domain_of": ["TermSetPairwiseSimilarity"]}} + ) + + +class TermInfo(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py-similarity"}) + + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) + label: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": { + "alias": "label", + "domain_of": ["TermInfo", "FacetValue", "FacetField"], + "slot_uri": "rdfs:label", + } + }, + ) + + +class BestMatch(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py-similarity"}) + + match_source: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "match_source", + "comments": ["note that the match_source is either the subject or the object"], + "domain_of": ["BestMatch"], + } + }, + ) + match_source_label: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "match_source_label", "domain_of": ["BestMatch"]}} + ) + match_target: Optional[str] = Field( + None, + description="""the entity matches""", + json_schema_extra={"linkml_meta": {"alias": "match_target", "domain_of": ["BestMatch"]}}, + ) + match_target_label: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "match_target_label", "domain_of": ["BestMatch"]}} + ) + score: float = Field( + ..., + json_schema_extra={ + "linkml_meta": {"alias": "score", "domain_of": ["BestMatch", "SemsimSearchResult", "SearchResult"]} + }, + ) + match_subsumer: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "match_subsumer", "domain_of": ["BestMatch"]}} + ) + match_subsumer_label: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "match_subsumer_label", "domain_of": ["BestMatch"]}} + ) + similarity: TermPairwiseSimilarity = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "similarity", "domain_of": ["BestMatch", "SemsimSearchResult"]}}, + ) + + +class SemsimSearchResult(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py-similarity", + "slot_usage": {"subject": {"inlined": True, "name": "subject", "range": "Entity"}}, + } + ) + + subject: Entity = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "subject", + "domain_of": ["SemsimSearchResult", "Association", "CompactAssociation"], + } + }, + ) + score: Optional[float] = Field( + None, + json_schema_extra={ + "linkml_meta": {"alias": "score", "domain_of": ["BestMatch", "SemsimSearchResult", "SearchResult"]} + }, + ) + similarity: Optional[TermSetPairwiseSimilarity] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "similarity", "domain_of": ["BestMatch", "SemsimSearchResult"]}}, + ) + + class Association(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) - id: str = Field(...) - category: Optional[str] = Field(None) - subject: str = Field(...) - original_subject: Optional[str] = Field(None) - subject_namespace: Optional[str] = Field(None, description="""The namespace/prefix of the subject entity""") - subject_category: Optional[str] = Field(None, description="""The category of the subject entity""") + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) + category: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": { + "alias": "category", + "domain_of": [ + "Association", + "AssociationCount", + "CompactAssociation", + "AssociationTypeMapping", + "Entity", + ], + } + }, + ) + subject: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "subject", + "domain_of": ["SemsimSearchResult", "Association", "CompactAssociation"], + } + }, + ) + original_subject: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "original_subject", "domain_of": ["Association"]}} + ) + subject_namespace: Optional[str] = Field( + None, + description="""The namespace/prefix of the subject entity""", + json_schema_extra={"linkml_meta": {"alias": "subject_namespace", "domain_of": ["Association"]}}, + ) + subject_category: Optional[str] = Field( + None, + description="""The category of the subject entity""", + json_schema_extra={ + "linkml_meta": {"alias": "subject_category", "domain_of": ["Association"], "is_a": "category"} + }, + ) subject_closure: Optional[List[str]] = Field( - default_factory=list, description="""Field containing subject id and the ids of all of it's ancestors""" + None, + description="""Field containing subject id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "subject_closure", "domain_of": ["Association"]}}, + ) + subject_label: Optional[str] = Field( + None, + description="""The name of the subject entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "subject_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, ) - subject_label: Optional[str] = Field(None, description="""The name of the subject entity""") subject_closure_label: Optional[List[str]] = Field( - default_factory=list, description="""Field containing subject name and the names of all of it's ancestors""" - ) - subject_taxon: Optional[str] = Field(None) - subject_taxon_label: Optional[str] = Field(None) - predicate: str = Field(...) - object: str = Field(...) - original_object: Optional[str] = Field(None) - object_namespace: Optional[str] = Field(None, description="""The namespace/prefix of the object entity""") - object_category: Optional[str] = Field(None, description="""The category of the object entity""") + None, + description="""Field containing subject name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "subject_closure_label", "domain_of": ["Association"]}}, + ) + subject_taxon: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "subject_taxon", "domain_of": ["Association"], "is_a": "in_taxon"}}, + ) + subject_taxon_label: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": {"alias": "subject_taxon_label", "domain_of": ["Association"], "is_a": "in_taxon_label"} + }, + ) + predicate: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "predicate", "domain_of": ["Association", "CompactAssociation"]}}, + ) + object: str = Field( + ..., json_schema_extra={"linkml_meta": {"alias": "object", "domain_of": ["Association", "CompactAssociation"]}} + ) + original_object: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "original_object", "domain_of": ["Association"]}} + ) + object_namespace: Optional[str] = Field( + None, + description="""The namespace/prefix of the object entity""", + json_schema_extra={"linkml_meta": {"alias": "object_namespace", "domain_of": ["Association"]}}, + ) + object_category: Optional[str] = Field( + None, + description="""The category of the object entity""", + json_schema_extra={ + "linkml_meta": {"alias": "object_category", "domain_of": ["Association"], "is_a": "category"} + }, + ) object_closure: Optional[List[str]] = Field( - default_factory=list, description="""Field containing object id and the ids of all of it's ancestors""" + None, + description="""Field containing object id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "object_closure", "domain_of": ["Association"]}}, + ) + object_label: Optional[str] = Field( + None, + description="""The name of the object entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "object_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, ) - object_label: Optional[str] = Field(None, description="""The name of the object entity""") object_closure_label: Optional[List[str]] = Field( - default_factory=list, description="""Field containing object name and the names of all of it's ancestors""" - ) - object_taxon: Optional[str] = Field(None) - object_taxon_label: Optional[str] = Field(None) - primary_knowledge_source: Optional[str] = Field(None) - aggregator_knowledge_source: Optional[List[str]] = Field(default_factory=list) - negated: Optional[bool] = Field(None) - pathway: Optional[str] = Field(None) + None, + description="""Field containing object name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "object_closure_label", "domain_of": ["Association"]}}, + ) + object_taxon: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "object_taxon", "domain_of": ["Association"], "is_a": "in_taxon"}}, + ) + object_taxon_label: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": {"alias": "object_taxon_label", "domain_of": ["Association"], "is_a": "in_taxon_label"} + }, + ) + primary_knowledge_source: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "primary_knowledge_source", "domain_of": ["Association"]}} + ) + aggregator_knowledge_source: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "aggregator_knowledge_source", "domain_of": ["Association"]}} + ) + negated: Optional[bool] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "negated", "domain_of": ["Association", "CompactAssociation"]}}, + ) + pathway: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "pathway", "domain_of": ["Association"]}} + ) evidence_count: Optional[int] = Field( - None, description="""count of supporting documents, evidence codes, and sources supplying evidence""" + None, + description="""count of supporting documents, evidence codes, and sources supplying evidence""", + json_schema_extra={"linkml_meta": {"alias": "evidence_count", "domain_of": ["Association"]}}, ) knowledge_level: str = Field( ..., description="""Describes the level of knowledge expressed in a statement, based on the reasoning or analysis methods used to generate the statement, or the scope or specificity of what the statement expresses to be true.""", + json_schema_extra={ + "linkml_meta": { + "alias": "knowledge_level", + "domain_of": ["Association"], + "notes": [ + "The range in this schema is represented as a string, but is " + "constrained to values from biolink:KnowledgeLevelEnum at ingest " + "time" + ], + "slot_uri": "biolink:knowledge_level", + } + }, ) agent_type: str = Field( ..., description="""Describes the high-level category of agent who originally generated a statement of knowledge or other type of information.""", + json_schema_extra={ + "linkml_meta": { + "alias": "agent_type", + "domain_of": ["Association"], + "notes": [ + "The range in this schema is represented as a string, but is " + "constrained to values from biolink:AgentTypeEnum at ingest time" + ], + "slot_uri": "biolink:agent_type", + } + }, + ) + has_evidence: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "has_evidence", "domain_of": ["Association"]}} ) - has_evidence: Optional[List[str]] = Field(default_factory=list) has_evidence_links: Optional[List[ExpandedCurie]] = Field( - default_factory=list, description="""List of ExpandedCuries with id and url for evidence""" + None, + description="""List of ExpandedCuries with id and url for evidence""", + json_schema_extra={"linkml_meta": {"alias": "has_evidence_links", "domain_of": ["Association"]}}, + ) + has_count: Optional[int] = Field( + None, + description="""count of out of has_total representing a frequency""", + json_schema_extra={"linkml_meta": {"alias": "has_count", "domain_of": ["Association"]}}, + ) + has_total: Optional[int] = Field( + None, + description="""total, devided by has_count, representing a frequency""", + json_schema_extra={"linkml_meta": {"alias": "has_total", "domain_of": ["Association"]}}, ) - has_count: Optional[int] = Field(None, description="""count of out of has_total representing a frequency""") - has_total: Optional[int] = Field(None, description="""total, devided by has_count, representing a frequency""") has_percentage: Optional[float] = Field( None, description="""percentage, which may be calculated from has_count and has_total, as 100 * quotient or provided directly, rounded to the integer level""", + json_schema_extra={"linkml_meta": {"alias": "has_percentage", "domain_of": ["Association"]}}, + ) + has_quotient: Optional[float] = Field( + None, + description="""quotient, which should be 1/100 of has_percentage""", + json_schema_extra={"linkml_meta": {"alias": "has_quotient", "domain_of": ["Association"]}}, ) - has_quotient: Optional[float] = Field(None, description="""quotient, which should be 1/100 of has_percentage""") grouping_key: Optional[str] = Field( None, description="""A concatenation of fields used to group associations with the same essential/defining properties""", + json_schema_extra={"linkml_meta": {"alias": "grouping_key", "domain_of": ["Association"]}}, + ) + provided_by: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "provided_by", "domain_of": ["Association", "Entity"]}} ) - provided_by: Optional[str] = Field(None) provided_by_link: Optional[ExpandedCurie] = Field( - None, description="""A link to the docs for the knowledge source that provided the node/edge.""" + None, + description="""A link to the docs for the knowledge source that provided the node/edge.""", + json_schema_extra={"linkml_meta": {"alias": "provided_by_link", "domain_of": ["Association", "Node"]}}, + ) + publications: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "publications", "domain_of": ["Association"]}} ) - publications: Optional[List[str]] = Field(default_factory=list) publications_links: Optional[List[ExpandedCurie]] = Field( - default_factory=list, description="""List of ExpandedCuries with id and url for publications""" - ) - frequency_qualifier: Optional[str] = Field(None) - onset_qualifier: Optional[str] = Field(None) - sex_qualifier: Optional[str] = Field(None) - stage_qualifier: Optional[str] = Field(None) - qualifiers: Optional[List[str]] = Field(default_factory=list) - qualifiers_label: Optional[str] = Field(None, description="""The name of the frequency_qualifier entity""") + None, + description="""List of ExpandedCuries with id and url for publications""", + json_schema_extra={"linkml_meta": {"alias": "publications_links", "domain_of": ["Association"]}}, + ) + frequency_qualifier: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier", "domain_of": ["Association"]}} + ) + onset_qualifier: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "onset_qualifier", "domain_of": ["Association"]}} + ) + sex_qualifier: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "sex_qualifier", "domain_of": ["Association"]}} + ) + stage_qualifier: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "stage_qualifier", "domain_of": ["Association"]}} + ) + qualifiers: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "qualifiers", "domain_of": ["Association"]}} + ) + qualifiers_label: Optional[str] = Field( + None, + description="""The name of the frequency_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "qualifiers_label", "domain_of": ["Association"], "is_a": "name"}}, + ) qualifiers_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the frequency_qualifier entity""" + None, + description="""The namespace/prefix of the frequency_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "qualifiers_namespace", "domain_of": ["Association"]}}, + ) + qualifiers_category: Optional[str] = Field( + None, + description="""The category of the frequency_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "qualifiers_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - qualifiers_category: Optional[str] = Field(None, description="""The category of the frequency_qualifier entity""") qualifiers_closure: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "qualifiers_closure", "domain_of": ["Association"]}}, ) qualifiers_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "qualifiers_closure_label", "domain_of": ["Association"]}}, + ) + qualifier: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "qualifier", "domain_of": ["Association"]}} + ) + qualifier_label: Optional[str] = Field( + None, + description="""The name of the frequency_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "qualifier_label", "domain_of": ["Association"], "is_a": "name"}}, ) - qualifier: Optional[List[str]] = Field(default_factory=list) - qualifier_label: Optional[str] = Field(None, description="""The name of the frequency_qualifier entity""") qualifier_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the frequency_qualifier entity""" + None, + description="""The namespace/prefix of the frequency_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "qualifier_namespace", "domain_of": ["Association"]}}, + ) + qualifier_category: Optional[str] = Field( + None, + description="""The category of the frequency_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "qualifier_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - qualifier_category: Optional[str] = Field(None, description="""The category of the frequency_qualifier entity""") qualifier_closure: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "qualifier_closure", "domain_of": ["Association"]}}, ) qualifier_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "qualifier_closure_label", "domain_of": ["Association"]}}, + ) + frequency_qualifier_label: Optional[str] = Field( + None, + description="""The name of the frequency_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "frequency_qualifier_label", "domain_of": ["Association"], "is_a": "name"} + }, ) - frequency_qualifier_label: Optional[str] = Field(None, description="""The name of the frequency_qualifier entity""") frequency_qualifier_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the frequency_qualifier entity""" + None, + description="""The namespace/prefix of the frequency_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier_namespace", "domain_of": ["Association"]}}, ) frequency_qualifier_category: Optional[str] = Field( - None, description="""The category of the frequency_qualifier entity""" + None, + description="""The category of the frequency_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "frequency_qualifier_category", "domain_of": ["Association"], "is_a": "category"} + }, ) frequency_qualifier_closure: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier_closure", "domain_of": ["Association"]}}, ) frequency_qualifier_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier_closure_label", "domain_of": ["Association"]}}, + ) + onset_qualifier_label: Optional[str] = Field( + None, + description="""The name of the onset_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "onset_qualifier_label", "domain_of": ["Association"], "is_a": "name"} + }, ) - onset_qualifier_label: Optional[str] = Field(None, description="""The name of the onset_qualifier entity""") onset_qualifier_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the onset_qualifier entity""" + None, + description="""The namespace/prefix of the onset_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "onset_qualifier_namespace", "domain_of": ["Association"]}}, + ) + onset_qualifier_category: Optional[str] = Field( + None, + description="""The category of the onset_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "onset_qualifier_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - onset_qualifier_category: Optional[str] = Field(None, description="""The category of the onset_qualifier entity""") onset_qualifier_closure: Optional[List[str]] = Field( - default_factory=list, description="""Field containing onset_qualifier id and the ids of all of it's ancestors""" + None, + description="""Field containing onset_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "onset_qualifier_closure", "domain_of": ["Association"]}}, ) onset_qualifier_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing onset_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "onset_qualifier_closure_label", "domain_of": ["Association"]}}, + ) + sex_qualifier_label: Optional[str] = Field( + None, + description="""The name of the sex_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "sex_qualifier_label", "domain_of": ["Association"], "is_a": "name"} + }, ) - sex_qualifier_label: Optional[str] = Field(None, description="""The name of the sex_qualifier entity""") sex_qualifier_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the sex_qualifier entity""" + None, + description="""The namespace/prefix of the sex_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "sex_qualifier_namespace", "domain_of": ["Association"]}}, + ) + sex_qualifier_category: Optional[str] = Field( + None, + description="""The category of the sex_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "sex_qualifier_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - sex_qualifier_category: Optional[str] = Field(None, description="""The category of the sex_qualifier entity""") sex_qualifier_closure: Optional[List[str]] = Field( - default_factory=list, description="""Field containing sex_qualifier id and the ids of all of it's ancestors""" + None, + description="""Field containing sex_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "sex_qualifier_closure", "domain_of": ["Association"]}}, ) sex_qualifier_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing sex_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "sex_qualifier_closure_label", "domain_of": ["Association"]}}, + ) + stage_qualifier_label: Optional[str] = Field( + None, + description="""The name of the stage_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "stage_qualifier_label", "domain_of": ["Association"], "is_a": "name"} + }, ) - stage_qualifier_label: Optional[str] = Field(None, description="""The name of the stage_qualifier entity""") stage_qualifier_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the stage_qualifier entity""" + None, + description="""The namespace/prefix of the stage_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "stage_qualifier_namespace", "domain_of": ["Association"]}}, + ) + stage_qualifier_category: Optional[str] = Field( + None, + description="""The category of the stage_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "stage_qualifier_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - stage_qualifier_category: Optional[str] = Field(None, description="""The category of the stage_qualifier entity""") stage_qualifier_closure: Optional[List[str]] = Field( - default_factory=list, description="""Field containing stage_qualifier id and the ids of all of it's ancestors""" + None, + description="""Field containing stage_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "stage_qualifier_closure", "domain_of": ["Association"]}}, ) stage_qualifier_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing stage_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "stage_qualifier_closure_label", "domain_of": ["Association"]}}, + ) + disease_context_qualifier: Optional[str] = Field( + None, + description="""A context qualifier representing a disease or condition in which a relationship expressed in an association took place.""", + json_schema_extra={ + "linkml_meta": { + "alias": "disease_context_qualifier", + "domain_of": ["Association"], + "examples": [{"value": "MONDO:0004979"}, {"value": "MONDO:0005148"}], + } + }, + ) + disease_context_qualifier_label: Optional[str] = Field( + None, + description="""The name of the disease_context_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "disease_context_qualifier_label", "domain_of": ["Association"], "is_a": "name"} + }, + ) + disease_context_qualifier_namespace: Optional[str] = Field( + None, + description="""The namespace/prefix of the disease_context_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "disease_context_qualifier_namespace", "domain_of": ["Association"]} + }, + ) + disease_context_qualifier_category: Optional[str] = Field( + None, + description="""The category of the disease_context_qualifier entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "disease_context_qualifier_category", + "domain_of": ["Association"], + "is_a": "category", + } + }, + ) + disease_context_qualifier_closure: Optional[List[str]] = Field( + None, + description="""Field containing disease_context_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "disease_context_qualifier_closure", "domain_of": ["Association"]}}, + ) + disease_context_qualifier_closure_label: Optional[List[str]] = Field( + None, + description="""Field containing disease_context_qualifier name and the names of all of it's ancestors""", + json_schema_extra={ + "linkml_meta": {"alias": "disease_context_qualifier_closure_label", "domain_of": ["Association"]} + }, ) @@ -196,20 +873,107 @@ class AssociationCountList(ConfiguredBaseModel): Container class for a list of association counts """ + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": {"items": {"name": "items", "range": "AssociationCount"}}, + } + ) + items: List[AssociationCount] = Field( - default_factory=list, description="""A collection of items, with the type to be overriden by slot_usage""" + ..., + description="""A collection of items, with the type to be overriden by slot_usage""", + json_schema_extra={ + "linkml_meta": { + "alias": "items", + "domain_of": [ + "AssociationCountList", + "AssociationResults", + "CompactAssociationResults", + "AssociationTableResults", + "CategoryGroupedAssociationResults", + "EntityResults", + "HistoPheno", + "MappingResults", + "SearchResults", + ], + } + }, ) class CompactAssociation(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) - category: Optional[str] = Field(None) - subject: str = Field(...) - subject_label: Optional[str] = Field(None, description="""The name of the subject entity""") - predicate: str = Field(...) - object: str = Field(...) - object_label: Optional[str] = Field(None, description="""The name of the object entity""") - negated: Optional[bool] = Field(None) + category: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": { + "alias": "category", + "domain_of": [ + "Association", + "AssociationCount", + "CompactAssociation", + "AssociationTypeMapping", + "Entity", + ], + } + }, + ) + subject: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "subject", + "domain_of": ["SemsimSearchResult", "Association", "CompactAssociation"], + } + }, + ) + subject_label: Optional[str] = Field( + None, + description="""The name of the subject entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "subject_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, + ) + predicate: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "predicate", "domain_of": ["Association", "CompactAssociation"]}}, + ) + object: str = Field( + ..., json_schema_extra={"linkml_meta": {"alias": "object", "domain_of": ["Association", "CompactAssociation"]}} + ) + object_label: Optional[str] = Field( + None, + description="""The name of the object entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "object_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, + ) + negated: Optional[bool] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "negated", "domain_of": ["Association", "CompactAssociation"]}}, + ) class AssociationTypeMapping(ConfiguredBaseModel): @@ -217,17 +981,100 @@ class AssociationTypeMapping(ConfiguredBaseModel): A data class to hold the necessary information to produce association type counts for given entities with appropriate directional labels """ + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": { + "category": { + "description": "The biolink category to use in " "queries for this association type", + "multivalued": False, + "name": "category", + "required": True, + }, + "object_label": { + "description": "A label to describe the " + "objects of the association " + "type as a whole for use in " + "the UI", + "name": "object_label", + }, + "subject_label": { + "description": "A label to describe the " + "subjects of the association " + "type as a whole for use in " + "the UI", + "name": "subject_label", + }, + "symmetric": { + "description": "Whether the association type is " + "symmetric, meaning that the " + "subject and object labels should " + "be interchangeable", + "ifabsent": "False", + "name": "symmetric", + "required": True, + }, + }, + } + ) + subject_label: Optional[str] = Field( - None, description="""A label to describe the subjects of the association type as a whole for use in the UI""" + None, + description="""A label to describe the subjects of the association type as a whole for use in the UI""", + json_schema_extra={ + "linkml_meta": { + "alias": "subject_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, ) object_label: Optional[str] = Field( - None, description="""A label to describe the objects of the association type as a whole for use in the UI""" + None, + description="""A label to describe the objects of the association type as a whole for use in the UI""", + json_schema_extra={ + "linkml_meta": { + "alias": "object_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, ) symmetric: bool = Field( False, description="""Whether the association type is symmetric, meaning that the subject and object labels should be interchangeable""", + json_schema_extra={ + "linkml_meta": {"alias": "symmetric", "domain_of": ["AssociationTypeMapping"], "ifabsent": "False"} + }, + ) + category: str = Field( + ..., + description="""The biolink category to use in queries for this association type""", + json_schema_extra={ + "linkml_meta": { + "alias": "category", + "domain_of": [ + "Association", + "AssociationCount", + "CompactAssociation", + "AssociationTypeMapping", + "Entity", + ], + } + }, ) - category: str = Field(..., description="""The biolink category to use in queries for this association type""") class DirectionalAssociation(Association): @@ -235,159 +1082,499 @@ class DirectionalAssociation(Association): An association that gives it's direction relative to a specified entity """ + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) + direction: AssociationDirectionEnum = Field( ..., description="""The directionality of the association relative to a given entity for an association_count. If the entity is the subject or in the subject closure, the direction is forwards, if it is the object or in the object closure, the direction is backwards.""", + json_schema_extra={"linkml_meta": {"alias": "direction", "domain_of": ["DirectionalAssociation"]}}, + ) + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) + category: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": { + "alias": "category", + "domain_of": [ + "Association", + "AssociationCount", + "CompactAssociation", + "AssociationTypeMapping", + "Entity", + ], + } + }, + ) + subject: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "subject", + "domain_of": ["SemsimSearchResult", "Association", "CompactAssociation"], + } + }, + ) + original_subject: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "original_subject", "domain_of": ["Association"]}} + ) + subject_namespace: Optional[str] = Field( + None, + description="""The namespace/prefix of the subject entity""", + json_schema_extra={"linkml_meta": {"alias": "subject_namespace", "domain_of": ["Association"]}}, + ) + subject_category: Optional[str] = Field( + None, + description="""The category of the subject entity""", + json_schema_extra={ + "linkml_meta": {"alias": "subject_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - id: str = Field(...) - category: Optional[str] = Field(None) - subject: str = Field(...) - original_subject: Optional[str] = Field(None) - subject_namespace: Optional[str] = Field(None, description="""The namespace/prefix of the subject entity""") - subject_category: Optional[str] = Field(None, description="""The category of the subject entity""") subject_closure: Optional[List[str]] = Field( - default_factory=list, description="""Field containing subject id and the ids of all of it's ancestors""" + None, + description="""Field containing subject id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "subject_closure", "domain_of": ["Association"]}}, + ) + subject_label: Optional[str] = Field( + None, + description="""The name of the subject entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "subject_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, ) - subject_label: Optional[str] = Field(None, description="""The name of the subject entity""") subject_closure_label: Optional[List[str]] = Field( - default_factory=list, description="""Field containing subject name and the names of all of it's ancestors""" - ) - subject_taxon: Optional[str] = Field(None) - subject_taxon_label: Optional[str] = Field(None) - predicate: str = Field(...) - object: str = Field(...) - original_object: Optional[str] = Field(None) - object_namespace: Optional[str] = Field(None, description="""The namespace/prefix of the object entity""") - object_category: Optional[str] = Field(None, description="""The category of the object entity""") + None, + description="""Field containing subject name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "subject_closure_label", "domain_of": ["Association"]}}, + ) + subject_taxon: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "subject_taxon", "domain_of": ["Association"], "is_a": "in_taxon"}}, + ) + subject_taxon_label: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": {"alias": "subject_taxon_label", "domain_of": ["Association"], "is_a": "in_taxon_label"} + }, + ) + predicate: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "predicate", "domain_of": ["Association", "CompactAssociation"]}}, + ) + object: str = Field( + ..., json_schema_extra={"linkml_meta": {"alias": "object", "domain_of": ["Association", "CompactAssociation"]}} + ) + original_object: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "original_object", "domain_of": ["Association"]}} + ) + object_namespace: Optional[str] = Field( + None, + description="""The namespace/prefix of the object entity""", + json_schema_extra={"linkml_meta": {"alias": "object_namespace", "domain_of": ["Association"]}}, + ) + object_category: Optional[str] = Field( + None, + description="""The category of the object entity""", + json_schema_extra={ + "linkml_meta": {"alias": "object_category", "domain_of": ["Association"], "is_a": "category"} + }, + ) object_closure: Optional[List[str]] = Field( - default_factory=list, description="""Field containing object id and the ids of all of it's ancestors""" + None, + description="""Field containing object id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "object_closure", "domain_of": ["Association"]}}, + ) + object_label: Optional[str] = Field( + None, + description="""The name of the object entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "object_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, ) - object_label: Optional[str] = Field(None, description="""The name of the object entity""") object_closure_label: Optional[List[str]] = Field( - default_factory=list, description="""Field containing object name and the names of all of it's ancestors""" - ) - object_taxon: Optional[str] = Field(None) - object_taxon_label: Optional[str] = Field(None) - primary_knowledge_source: Optional[str] = Field(None) - aggregator_knowledge_source: Optional[List[str]] = Field(default_factory=list) - negated: Optional[bool] = Field(None) - pathway: Optional[str] = Field(None) + None, + description="""Field containing object name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "object_closure_label", "domain_of": ["Association"]}}, + ) + object_taxon: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "object_taxon", "domain_of": ["Association"], "is_a": "in_taxon"}}, + ) + object_taxon_label: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": {"alias": "object_taxon_label", "domain_of": ["Association"], "is_a": "in_taxon_label"} + }, + ) + primary_knowledge_source: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "primary_knowledge_source", "domain_of": ["Association"]}} + ) + aggregator_knowledge_source: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "aggregator_knowledge_source", "domain_of": ["Association"]}} + ) + negated: Optional[bool] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "negated", "domain_of": ["Association", "CompactAssociation"]}}, + ) + pathway: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "pathway", "domain_of": ["Association"]}} + ) evidence_count: Optional[int] = Field( - None, description="""count of supporting documents, evidence codes, and sources supplying evidence""" + None, + description="""count of supporting documents, evidence codes, and sources supplying evidence""", + json_schema_extra={"linkml_meta": {"alias": "evidence_count", "domain_of": ["Association"]}}, ) knowledge_level: str = Field( ..., description="""Describes the level of knowledge expressed in a statement, based on the reasoning or analysis methods used to generate the statement, or the scope or specificity of what the statement expresses to be true.""", + json_schema_extra={ + "linkml_meta": { + "alias": "knowledge_level", + "domain_of": ["Association"], + "notes": [ + "The range in this schema is represented as a string, but is " + "constrained to values from biolink:KnowledgeLevelEnum at ingest " + "time" + ], + "slot_uri": "biolink:knowledge_level", + } + }, ) agent_type: str = Field( ..., description="""Describes the high-level category of agent who originally generated a statement of knowledge or other type of information.""", + json_schema_extra={ + "linkml_meta": { + "alias": "agent_type", + "domain_of": ["Association"], + "notes": [ + "The range in this schema is represented as a string, but is " + "constrained to values from biolink:AgentTypeEnum at ingest time" + ], + "slot_uri": "biolink:agent_type", + } + }, + ) + has_evidence: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "has_evidence", "domain_of": ["Association"]}} ) - has_evidence: Optional[List[str]] = Field(default_factory=list) has_evidence_links: Optional[List[ExpandedCurie]] = Field( - default_factory=list, description="""List of ExpandedCuries with id and url for evidence""" + None, + description="""List of ExpandedCuries with id and url for evidence""", + json_schema_extra={"linkml_meta": {"alias": "has_evidence_links", "domain_of": ["Association"]}}, + ) + has_count: Optional[int] = Field( + None, + description="""count of out of has_total representing a frequency""", + json_schema_extra={"linkml_meta": {"alias": "has_count", "domain_of": ["Association"]}}, + ) + has_total: Optional[int] = Field( + None, + description="""total, devided by has_count, representing a frequency""", + json_schema_extra={"linkml_meta": {"alias": "has_total", "domain_of": ["Association"]}}, ) - has_count: Optional[int] = Field(None, description="""count of out of has_total representing a frequency""") - has_total: Optional[int] = Field(None, description="""total, devided by has_count, representing a frequency""") has_percentage: Optional[float] = Field( None, description="""percentage, which may be calculated from has_count and has_total, as 100 * quotient or provided directly, rounded to the integer level""", + json_schema_extra={"linkml_meta": {"alias": "has_percentage", "domain_of": ["Association"]}}, + ) + has_quotient: Optional[float] = Field( + None, + description="""quotient, which should be 1/100 of has_percentage""", + json_schema_extra={"linkml_meta": {"alias": "has_quotient", "domain_of": ["Association"]}}, ) - has_quotient: Optional[float] = Field(None, description="""quotient, which should be 1/100 of has_percentage""") grouping_key: Optional[str] = Field( None, description="""A concatenation of fields used to group associations with the same essential/defining properties""", + json_schema_extra={"linkml_meta": {"alias": "grouping_key", "domain_of": ["Association"]}}, + ) + provided_by: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "provided_by", "domain_of": ["Association", "Entity"]}} ) - provided_by: Optional[str] = Field(None) provided_by_link: Optional[ExpandedCurie] = Field( - None, description="""A link to the docs for the knowledge source that provided the node/edge.""" + None, + description="""A link to the docs for the knowledge source that provided the node/edge.""", + json_schema_extra={"linkml_meta": {"alias": "provided_by_link", "domain_of": ["Association", "Node"]}}, + ) + publications: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "publications", "domain_of": ["Association"]}} ) - publications: Optional[List[str]] = Field(default_factory=list) publications_links: Optional[List[ExpandedCurie]] = Field( - default_factory=list, description="""List of ExpandedCuries with id and url for publications""" - ) - frequency_qualifier: Optional[str] = Field(None) - onset_qualifier: Optional[str] = Field(None) - sex_qualifier: Optional[str] = Field(None) - stage_qualifier: Optional[str] = Field(None) - qualifiers: Optional[List[str]] = Field(default_factory=list) - qualifiers_label: Optional[str] = Field(None, description="""The name of the frequency_qualifier entity""") + None, + description="""List of ExpandedCuries with id and url for publications""", + json_schema_extra={"linkml_meta": {"alias": "publications_links", "domain_of": ["Association"]}}, + ) + frequency_qualifier: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier", "domain_of": ["Association"]}} + ) + onset_qualifier: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "onset_qualifier", "domain_of": ["Association"]}} + ) + sex_qualifier: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "sex_qualifier", "domain_of": ["Association"]}} + ) + stage_qualifier: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "stage_qualifier", "domain_of": ["Association"]}} + ) + qualifiers: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "qualifiers", "domain_of": ["Association"]}} + ) + qualifiers_label: Optional[str] = Field( + None, + description="""The name of the frequency_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "qualifiers_label", "domain_of": ["Association"], "is_a": "name"}}, + ) qualifiers_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the frequency_qualifier entity""" + None, + description="""The namespace/prefix of the frequency_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "qualifiers_namespace", "domain_of": ["Association"]}}, + ) + qualifiers_category: Optional[str] = Field( + None, + description="""The category of the frequency_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "qualifiers_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - qualifiers_category: Optional[str] = Field(None, description="""The category of the frequency_qualifier entity""") qualifiers_closure: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "qualifiers_closure", "domain_of": ["Association"]}}, ) qualifiers_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "qualifiers_closure_label", "domain_of": ["Association"]}}, + ) + qualifier: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "qualifier", "domain_of": ["Association"]}} + ) + qualifier_label: Optional[str] = Field( + None, + description="""The name of the frequency_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "qualifier_label", "domain_of": ["Association"], "is_a": "name"}}, ) - qualifier: Optional[List[str]] = Field(default_factory=list) - qualifier_label: Optional[str] = Field(None, description="""The name of the frequency_qualifier entity""") qualifier_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the frequency_qualifier entity""" + None, + description="""The namespace/prefix of the frequency_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "qualifier_namespace", "domain_of": ["Association"]}}, + ) + qualifier_category: Optional[str] = Field( + None, + description="""The category of the frequency_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "qualifier_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - qualifier_category: Optional[str] = Field(None, description="""The category of the frequency_qualifier entity""") qualifier_closure: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "qualifier_closure", "domain_of": ["Association"]}}, ) qualifier_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "qualifier_closure_label", "domain_of": ["Association"]}}, + ) + frequency_qualifier_label: Optional[str] = Field( + None, + description="""The name of the frequency_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "frequency_qualifier_label", "domain_of": ["Association"], "is_a": "name"} + }, ) - frequency_qualifier_label: Optional[str] = Field(None, description="""The name of the frequency_qualifier entity""") frequency_qualifier_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the frequency_qualifier entity""" + None, + description="""The namespace/prefix of the frequency_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier_namespace", "domain_of": ["Association"]}}, ) frequency_qualifier_category: Optional[str] = Field( - None, description="""The category of the frequency_qualifier entity""" + None, + description="""The category of the frequency_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "frequency_qualifier_category", "domain_of": ["Association"], "is_a": "category"} + }, ) frequency_qualifier_closure: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier_closure", "domain_of": ["Association"]}}, ) frequency_qualifier_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing frequency_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier_closure_label", "domain_of": ["Association"]}}, + ) + onset_qualifier_label: Optional[str] = Field( + None, + description="""The name of the onset_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "onset_qualifier_label", "domain_of": ["Association"], "is_a": "name"} + }, ) - onset_qualifier_label: Optional[str] = Field(None, description="""The name of the onset_qualifier entity""") onset_qualifier_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the onset_qualifier entity""" + None, + description="""The namespace/prefix of the onset_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "onset_qualifier_namespace", "domain_of": ["Association"]}}, + ) + onset_qualifier_category: Optional[str] = Field( + None, + description="""The category of the onset_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "onset_qualifier_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - onset_qualifier_category: Optional[str] = Field(None, description="""The category of the onset_qualifier entity""") onset_qualifier_closure: Optional[List[str]] = Field( - default_factory=list, description="""Field containing onset_qualifier id and the ids of all of it's ancestors""" + None, + description="""Field containing onset_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "onset_qualifier_closure", "domain_of": ["Association"]}}, ) onset_qualifier_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing onset_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "onset_qualifier_closure_label", "domain_of": ["Association"]}}, + ) + sex_qualifier_label: Optional[str] = Field( + None, + description="""The name of the sex_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "sex_qualifier_label", "domain_of": ["Association"], "is_a": "name"} + }, ) - sex_qualifier_label: Optional[str] = Field(None, description="""The name of the sex_qualifier entity""") sex_qualifier_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the sex_qualifier entity""" + None, + description="""The namespace/prefix of the sex_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "sex_qualifier_namespace", "domain_of": ["Association"]}}, + ) + sex_qualifier_category: Optional[str] = Field( + None, + description="""The category of the sex_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "sex_qualifier_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - sex_qualifier_category: Optional[str] = Field(None, description="""The category of the sex_qualifier entity""") sex_qualifier_closure: Optional[List[str]] = Field( - default_factory=list, description="""Field containing sex_qualifier id and the ids of all of it's ancestors""" + None, + description="""Field containing sex_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "sex_qualifier_closure", "domain_of": ["Association"]}}, ) sex_qualifier_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing sex_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "sex_qualifier_closure_label", "domain_of": ["Association"]}}, + ) + stage_qualifier_label: Optional[str] = Field( + None, + description="""The name of the stage_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "stage_qualifier_label", "domain_of": ["Association"], "is_a": "name"} + }, ) - stage_qualifier_label: Optional[str] = Field(None, description="""The name of the stage_qualifier entity""") stage_qualifier_namespace: Optional[str] = Field( - None, description="""The namespace/prefix of the stage_qualifier entity""" + None, + description="""The namespace/prefix of the stage_qualifier entity""", + json_schema_extra={"linkml_meta": {"alias": "stage_qualifier_namespace", "domain_of": ["Association"]}}, + ) + stage_qualifier_category: Optional[str] = Field( + None, + description="""The category of the stage_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "stage_qualifier_category", "domain_of": ["Association"], "is_a": "category"} + }, ) - stage_qualifier_category: Optional[str] = Field(None, description="""The category of the stage_qualifier entity""") stage_qualifier_closure: Optional[List[str]] = Field( - default_factory=list, description="""Field containing stage_qualifier id and the ids of all of it's ancestors""" + None, + description="""Field containing stage_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "stage_qualifier_closure", "domain_of": ["Association"]}}, ) stage_qualifier_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""Field containing stage_qualifier name and the names of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "stage_qualifier_closure_label", "domain_of": ["Association"]}}, + ) + disease_context_qualifier: Optional[str] = Field( + None, + description="""A context qualifier representing a disease or condition in which a relationship expressed in an association took place.""", + json_schema_extra={ + "linkml_meta": { + "alias": "disease_context_qualifier", + "domain_of": ["Association"], + "examples": [{"value": "MONDO:0004979"}, {"value": "MONDO:0005148"}], + } + }, + ) + disease_context_qualifier_label: Optional[str] = Field( + None, + description="""The name of the disease_context_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "disease_context_qualifier_label", "domain_of": ["Association"], "is_a": "name"} + }, + ) + disease_context_qualifier_namespace: Optional[str] = Field( + None, + description="""The namespace/prefix of the disease_context_qualifier entity""", + json_schema_extra={ + "linkml_meta": {"alias": "disease_context_qualifier_namespace", "domain_of": ["Association"]} + }, + ) + disease_context_qualifier_category: Optional[str] = Field( + None, + description="""The category of the disease_context_qualifier entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "disease_context_qualifier_category", + "domain_of": ["Association"], + "is_a": "category", + } + }, + ) + disease_context_qualifier_closure: Optional[List[str]] = Field( + None, + description="""Field containing disease_context_qualifier id and the ids of all of it's ancestors""", + json_schema_extra={"linkml_meta": {"alias": "disease_context_qualifier_closure", "domain_of": ["Association"]}}, + ) + disease_context_qualifier_closure_label: Optional[List[str]] = Field( + None, + description="""Field containing disease_context_qualifier name and the names of all of it's ancestors""", + json_schema_extra={ + "linkml_meta": {"alias": "disease_context_qualifier_closure_label", "domain_of": ["Association"]} + }, ) @@ -396,8 +1583,29 @@ class ExpandedCurie(ConfiguredBaseModel): A curie bundled along with its expanded url """ - id: str = Field(...) - url: Optional[str] = Field(None) + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) + + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) + url: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "url", "domain_of": ["ExpandedCurie", "Release"]}} + ) class Entity(ConfiguredBaseModel): @@ -405,80 +1613,262 @@ class Entity(ConfiguredBaseModel): Represents an Entity in the Monarch KG data model """ - id: str = Field(...) - category: Optional[str] = Field(None) - name: Optional[str] = Field(None) - full_name: Optional[str] = Field(None, description="""The long form name of an entity""") + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) + + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) + category: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": { + "alias": "category", + "domain_of": [ + "Association", + "AssociationCount", + "CompactAssociation", + "AssociationTypeMapping", + "Entity", + ], + } + }, + ) + name: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "name", "domain_of": ["Entity", "MultiEntityAssociationResults"]}}, + ) + full_name: Optional[str] = Field( + None, + description="""The long form name of an entity""", + json_schema_extra={"linkml_meta": {"alias": "full_name", "domain_of": ["Entity"]}}, + ) deprecated: Optional[bool] = Field( - None, description="""A boolean flag indicating that an entity is no longer considered current or valid.""" + None, + description="""A boolean flag indicating that an entity is no longer considered current or valid.""", + json_schema_extra={ + "linkml_meta": { + "alias": "deprecated", + "domain_of": ["Entity"], + "exact_mappings": ["oboInOwl:ObsoleteClass"], + } + }, + ) + description: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "description", "domain_of": ["Entity"]}} + ) + xref: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "xref", "domain_of": ["Entity"]}} + ) + provided_by: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "provided_by", "domain_of": ["Association", "Entity"]}} + ) + in_taxon: Optional[str] = Field( + None, + description="""The biolink taxon that the entity is in the closure of.""", + json_schema_extra={"linkml_meta": {"alias": "in_taxon", "domain_of": ["Entity", "Node"]}}, ) - description: Optional[str] = Field(None) - xref: Optional[List[str]] = Field(default_factory=list) - provided_by: Optional[str] = Field(None) - in_taxon: Optional[str] = Field(None, description="""The biolink taxon that the entity is in the closure of.""") in_taxon_label: Optional[str] = Field( - None, description="""The label of the biolink taxon that the entity is in the closure of.""" + None, + description="""The label of the biolink taxon that the entity is in the closure of.""", + json_schema_extra={"linkml_meta": {"alias": "in_taxon_label", "domain_of": ["Entity", "Node"]}}, + ) + symbol: Optional[str] = Field(None, json_schema_extra={"linkml_meta": {"alias": "symbol", "domain_of": ["Entity"]}}) + synonym: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "synonym", "domain_of": ["Entity"]}} + ) + uri: Optional[str] = Field( + None, + description="""The URI of the entity""", + json_schema_extra={"linkml_meta": {"alias": "uri", "domain_of": ["Entity"]}}, + ) + iri: Optional[str] = Field(None, json_schema_extra={"linkml_meta": {"alias": "iri", "domain_of": ["Entity"]}}) + namespace: Optional[str] = Field( + None, + description="""The namespace/prefix portion of this entity's identifier""", + json_schema_extra={"linkml_meta": {"alias": "namespace", "domain_of": ["Entity"]}}, ) - symbol: Optional[str] = Field(None) - synonym: Optional[List[str]] = Field(default_factory=list) - uri: Optional[str] = Field(None, description="""The URI of the entity""") - iri: Optional[str] = Field(None) - namespace: Optional[str] = Field(None, description="""The namespace/prefix portion of this entity's identifier""") has_phenotype: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype identifiers that are known to be associated with this entity""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype", "domain_of": ["Entity"]}}, ) has_phenotype_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype labels that are known to be associated with this entity""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_label", "domain_of": ["Entity"]}}, ) has_phenotype_closure: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype identifiers that are known to be associated with this entity expanded to include all ancestors""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_closure", "domain_of": ["Entity"]}}, ) has_phenotype_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype labels that are known to be associated with this entity expanded to include all ancestors""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_closure_label", "domain_of": ["Entity"]}}, ) has_phenotype_count: Optional[int] = Field( - None, description="""A count of the number of phenotypes that are known to be associated with this entity""" + None, + description="""A count of the number of phenotypes that are known to be associated with this entity""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_count", "domain_of": ["Entity"]}}, ) class FacetValue(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) - label: str = Field(...) - count: Optional[int] = Field(None, description="""count of documents""") + label: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "label", "domain_of": ["TermInfo", "FacetValue", "FacetField"]}}, + ) + count: Optional[int] = Field( + None, + description="""count of documents""", + json_schema_extra={"linkml_meta": {"alias": "count", "domain_of": ["FacetValue"]}}, + ) class AssociationCount(FacetValue): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": {"category": {"multivalued": False, "name": "category"}}, + } + ) - category: Optional[str] = Field(None) - label: str = Field(...) - count: Optional[int] = Field(None, description="""count of documents""") + category: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": { + "alias": "category", + "domain_of": [ + "Association", + "AssociationCount", + "CompactAssociation", + "AssociationTypeMapping", + "Entity", + ], + } + }, + ) + label: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "label", "domain_of": ["TermInfo", "FacetValue", "FacetField"]}}, + ) + count: Optional[int] = Field( + None, + description="""count of documents""", + json_schema_extra={"linkml_meta": {"alias": "count", "domain_of": ["FacetValue"]}}, + ) class FacetField(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) - label: str = Field(...) + label: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "label", "domain_of": ["TermInfo", "FacetValue", "FacetField"]}}, + ) facet_values: Optional[List[FacetValue]] = Field( - default_factory=list, description="""Collection of FacetValue label/value instances belonging to a FacetField""" + None, + description="""Collection of FacetValue label/value instances belonging to a FacetField""", + json_schema_extra={"linkml_meta": {"alias": "facet_values", "domain_of": ["FacetField"]}}, ) class HistoPheno(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": {"items": {"name": "items", "range": "HistoBin"}}, + } + ) - id: str = Field(...) + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) items: List[HistoBin] = Field( - default_factory=list, description="""A collection of items, with the type to be overriden by slot_usage""" + ..., + description="""A collection of items, with the type to be overriden by slot_usage""", + json_schema_extra={ + "linkml_meta": { + "alias": "items", + "domain_of": [ + "AssociationCountList", + "AssociationResults", + "CompactAssociationResults", + "AssociationTableResults", + "CategoryGroupedAssociationResults", + "EntityResults", + "HistoPheno", + "MappingResults", + "SearchResults", + ], + } + }, ) class HistoBin(FacetValue): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) - id: str = Field(...) - label: str = Field(...) - count: Optional[int] = Field(None, description="""count of documents""") + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) + label: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "label", "domain_of": ["TermInfo", "FacetValue", "FacetField"]}}, + ) + count: Optional[int] = Field( + None, + description="""count of documents""", + json_schema_extra={"linkml_meta": {"alias": "count", "domain_of": ["FacetValue"]}}, + ) class Mapping(ConfiguredBaseModel): @@ -486,13 +1876,74 @@ class Mapping(ConfiguredBaseModel): A minimal class to hold a SSSOM mapping """ - subject_id: str = Field(...) - subject_label: Optional[str] = Field(None, description="""The name of the subject entity""") - predicate_id: str = Field(...) - object_id: str = Field(...) - object_label: Optional[str] = Field(None, description="""The name of the object entity""") - mapping_justification: Optional[str] = Field(None) - id: str = Field(...) + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) + + subject_id: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "subject_id", "domain_of": ["TermPairwiseSimilarity", "Mapping"]}}, + ) + subject_label: Optional[str] = Field( + None, + description="""The name of the subject entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "subject_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, + ) + predicate_id: str = Field( + ..., json_schema_extra={"linkml_meta": {"alias": "predicate_id", "domain_of": ["Mapping"]}} + ) + object_id: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "object_id", "domain_of": ["TermPairwiseSimilarity", "Mapping"]}}, + ) + object_label: Optional[str] = Field( + None, + description="""The name of the object entity""", + json_schema_extra={ + "linkml_meta": { + "alias": "object_label", + "domain_of": [ + "TermPairwiseSimilarity", + "Association", + "CompactAssociation", + "AssociationTypeMapping", + "Mapping", + ], + "is_a": "name", + } + }, + ) + mapping_justification: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "mapping_justification", "domain_of": ["Mapping"]}} + ) + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) class Node(Entity): @@ -500,68 +1951,165 @@ class Node(Entity): UI container class extending Entity with additional information """ - in_taxon: Optional[str] = Field(None, description="""The biolink taxon that the entity is in the closure of.""") + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) + + in_taxon: Optional[str] = Field( + None, + description="""The biolink taxon that the entity is in the closure of.""", + json_schema_extra={"linkml_meta": {"alias": "in_taxon", "domain_of": ["Entity", "Node"]}}, + ) in_taxon_label: Optional[str] = Field( - None, description="""The label of the biolink taxon that the entity is in the closure of.""" + None, + description="""The label of the biolink taxon that the entity is in the closure of.""", + json_schema_extra={"linkml_meta": {"alias": "in_taxon_label", "domain_of": ["Entity", "Node"]}}, + ) + inheritance: Optional[Entity] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "inheritance", "domain_of": ["Node"]}} ) - inheritance: Optional[Entity] = Field(None) causal_gene: Optional[List[Entity]] = Field( - default_factory=list, description="""A list of genes that are known to be causally associated with a disease""" + None, + description="""A list of genes that are known to be causally associated with a disease""", + json_schema_extra={"linkml_meta": {"alias": "causal_gene", "domain_of": ["Node"]}}, ) causes_disease: Optional[List[Entity]] = Field( - default_factory=list, description="""A list of diseases that are known to be causally associated with a gene""" + None, + description="""A list of diseases that are known to be causally associated with a gene""", + json_schema_extra={"linkml_meta": {"alias": "causes_disease", "domain_of": ["Node"]}}, ) mappings: Optional[List[ExpandedCurie]] = Field( - default_factory=list, description="""List of ExpandedCuries with id and url for mapped entities""" + None, + description="""List of ExpandedCuries with id and url for mapped entities""", + json_schema_extra={"linkml_meta": {"alias": "mappings", "domain_of": ["Node"]}}, ) external_links: Optional[List[ExpandedCurie]] = Field( - default_factory=list, description="""ExpandedCurie with id and url for xrefs""" + None, + description="""ExpandedCurie with id and url for xrefs""", + json_schema_extra={"linkml_meta": {"alias": "external_links", "domain_of": ["Node"]}}, ) provided_by_link: Optional[ExpandedCurie] = Field( - None, description="""A link to the docs for the knowledge source that provided the node/edge.""" - ) - association_counts: List[AssociationCount] = Field(default_factory=list) - node_hierarchy: Optional[NodeHierarchy] = Field(None) - id: str = Field(...) - category: Optional[str] = Field(None) - name: Optional[str] = Field(None) - full_name: Optional[str] = Field(None, description="""The long form name of an entity""") + None, + description="""A link to the docs for the knowledge source that provided the node/edge.""", + json_schema_extra={"linkml_meta": {"alias": "provided_by_link", "domain_of": ["Association", "Node"]}}, + ) + association_counts: List[AssociationCount] = Field( + ..., json_schema_extra={"linkml_meta": {"alias": "association_counts", "domain_of": ["Node"]}} + ) + node_hierarchy: Optional[NodeHierarchy] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "node_hierarchy", "domain_of": ["Node"]}} + ) + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) + category: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": { + "alias": "category", + "domain_of": [ + "Association", + "AssociationCount", + "CompactAssociation", + "AssociationTypeMapping", + "Entity", + ], + } + }, + ) + name: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "name", "domain_of": ["Entity", "MultiEntityAssociationResults"]}}, + ) + full_name: Optional[str] = Field( + None, + description="""The long form name of an entity""", + json_schema_extra={"linkml_meta": {"alias": "full_name", "domain_of": ["Entity"]}}, + ) deprecated: Optional[bool] = Field( - None, description="""A boolean flag indicating that an entity is no longer considered current or valid.""" - ) - description: Optional[str] = Field(None) - xref: Optional[List[str]] = Field(default_factory=list) - provided_by: Optional[str] = Field(None) - symbol: Optional[str] = Field(None) - synonym: Optional[List[str]] = Field(default_factory=list) - uri: Optional[str] = Field(None, description="""The URI of the entity""") - iri: Optional[str] = Field(None) - namespace: Optional[str] = Field(None, description="""The namespace/prefix portion of this entity's identifier""") + None, + description="""A boolean flag indicating that an entity is no longer considered current or valid.""", + json_schema_extra={ + "linkml_meta": { + "alias": "deprecated", + "domain_of": ["Entity"], + "exact_mappings": ["oboInOwl:ObsoleteClass"], + } + }, + ) + description: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "description", "domain_of": ["Entity"]}} + ) + xref: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "xref", "domain_of": ["Entity"]}} + ) + provided_by: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "provided_by", "domain_of": ["Association", "Entity"]}} + ) + symbol: Optional[str] = Field(None, json_schema_extra={"linkml_meta": {"alias": "symbol", "domain_of": ["Entity"]}}) + synonym: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "synonym", "domain_of": ["Entity"]}} + ) + uri: Optional[str] = Field( + None, + description="""The URI of the entity""", + json_schema_extra={"linkml_meta": {"alias": "uri", "domain_of": ["Entity"]}}, + ) + iri: Optional[str] = Field(None, json_schema_extra={"linkml_meta": {"alias": "iri", "domain_of": ["Entity"]}}) + namespace: Optional[str] = Field( + None, + description="""The namespace/prefix portion of this entity's identifier""", + json_schema_extra={"linkml_meta": {"alias": "namespace", "domain_of": ["Entity"]}}, + ) has_phenotype: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype identifiers that are known to be associated with this entity""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype", "domain_of": ["Entity"]}}, ) has_phenotype_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype labels that are known to be associated with this entity""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_label", "domain_of": ["Entity"]}}, ) has_phenotype_closure: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype identifiers that are known to be associated with this entity expanded to include all ancestors""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_closure", "domain_of": ["Entity"]}}, ) has_phenotype_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype labels that are known to be associated with this entity expanded to include all ancestors""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_closure_label", "domain_of": ["Entity"]}}, ) has_phenotype_count: Optional[int] = Field( - None, description="""A count of the number of phenotypes that are known to be associated with this entity""" + None, + description="""A count of the number of phenotypes that are known to be associated with this entity""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_count", "domain_of": ["Entity"]}}, ) class NodeHierarchy(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) - super_classes: List[Entity] = Field(default_factory=list) - sub_classes: List[Entity] = Field(default_factory=list) + super_classes: List[Entity] = Field( + ..., json_schema_extra={"linkml_meta": {"alias": "super_classes", "domain_of": ["NodeHierarchy"]}} + ) + sub_classes: List[Entity] = Field( + ..., json_schema_extra={"linkml_meta": {"alias": "sub_classes", "domain_of": ["NodeHierarchy"]}} + ) class Release(ConfiguredBaseModel): @@ -569,76 +2117,296 @@ class Release(ConfiguredBaseModel): A class to hold information about a release of the Monarch KG """ - version: Optional[str] = Field(None) - url: Optional[str] = Field(None) - kg: Optional[str] = Field(None) - sqlite: Optional[str] = Field(None) - solr: Optional[str] = Field(None) - neo4j: Optional[str] = Field(None) - metadata: Optional[str] = Field(None) - graph_stats: Optional[str] = Field(None) - qc_report: Optional[str] = Field(None) + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) + + version: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "version", "domain_of": ["Release"], "id_prefixes": ["string"]}}, + ) + url: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "url", "domain_of": ["ExpandedCurie", "Release"]}} + ) + kg: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "kg", "domain_of": ["Release"], "id_prefixes": ["string"]}} + ) + sqlite: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "sqlite", "domain_of": ["Release"], "id_prefixes": ["string"]}}, + ) + solr: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "solr", "domain_of": ["Release"], "id_prefixes": ["string"]}} + ) + neo4j: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "neo4j", "domain_of": ["Release"], "id_prefixes": ["string"]}} + ) + metadata: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "metadata", "domain_of": ["Release"], "id_prefixes": ["string"]}}, + ) + graph_stats: Optional[str] = Field( + None, + json_schema_extra={ + "linkml_meta": {"alias": "graph_stats", "domain_of": ["Release"], "id_prefixes": ["string"]} + }, + ) + qc_report: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "qc_report", "domain_of": ["Release"], "id_prefixes": ["string"]}}, + ) class Results(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + {"abstract": True, "from_schema": "https://w3id.org/monarch/monarch-py"} + ) - limit: int = Field(..., description="""number of items to return in a response""") - offset: int = Field(..., description="""offset into the total number of items""") - total: int = Field(..., description="""total number of items matching a query""") + limit: int = Field( + ..., + description="""number of items to return in a response""", + json_schema_extra={"linkml_meta": {"alias": "limit", "domain_of": ["Results"]}}, + ) + offset: int = Field( + ..., + description="""offset into the total number of items""", + json_schema_extra={"linkml_meta": {"alias": "offset", "domain_of": ["Results"]}}, + ) + total: int = Field( + ..., + description="""total number of items matching a query""", + json_schema_extra={"linkml_meta": {"alias": "total", "domain_of": ["Results"]}}, + ) class AssociationResults(Results): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": {"items": {"name": "items", "range": "Association"}}, + } + ) items: List[Association] = Field( - default_factory=list, description="""A collection of items, with the type to be overriden by slot_usage""" + ..., + description="""A collection of items, with the type to be overriden by slot_usage""", + json_schema_extra={ + "linkml_meta": { + "alias": "items", + "domain_of": [ + "AssociationCountList", + "AssociationResults", + "CompactAssociationResults", + "AssociationTableResults", + "CategoryGroupedAssociationResults", + "EntityResults", + "HistoPheno", + "MappingResults", + "SearchResults", + ], + } + }, + ) + limit: int = Field( + ..., + description="""number of items to return in a response""", + json_schema_extra={"linkml_meta": {"alias": "limit", "domain_of": ["Results"]}}, + ) + offset: int = Field( + ..., + description="""offset into the total number of items""", + json_schema_extra={"linkml_meta": {"alias": "offset", "domain_of": ["Results"]}}, + ) + total: int = Field( + ..., + description="""total number of items matching a query""", + json_schema_extra={"linkml_meta": {"alias": "total", "domain_of": ["Results"]}}, ) - limit: int = Field(..., description="""number of items to return in a response""") - offset: int = Field(..., description="""offset into the total number of items""") - total: int = Field(..., description="""total number of items matching a query""") class CompactAssociationResults(Results): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": {"items": {"name": "items", "range": "CompactAssociation"}}, + } + ) items: List[CompactAssociation] = Field( - default_factory=list, description="""A collection of items, with the type to be overriden by slot_usage""" + ..., + description="""A collection of items, with the type to be overriden by slot_usage""", + json_schema_extra={ + "linkml_meta": { + "alias": "items", + "domain_of": [ + "AssociationCountList", + "AssociationResults", + "CompactAssociationResults", + "AssociationTableResults", + "CategoryGroupedAssociationResults", + "EntityResults", + "HistoPheno", + "MappingResults", + "SearchResults", + ], + } + }, + ) + limit: int = Field( + ..., + description="""number of items to return in a response""", + json_schema_extra={"linkml_meta": {"alias": "limit", "domain_of": ["Results"]}}, + ) + offset: int = Field( + ..., + description="""offset into the total number of items""", + json_schema_extra={"linkml_meta": {"alias": "offset", "domain_of": ["Results"]}}, + ) + total: int = Field( + ..., + description="""total number of items matching a query""", + json_schema_extra={"linkml_meta": {"alias": "total", "domain_of": ["Results"]}}, ) - limit: int = Field(..., description="""number of items to return in a response""") - offset: int = Field(..., description="""offset into the total number of items""") - total: int = Field(..., description="""total number of items matching a query""") class AssociationTableResults(Results): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": {"items": {"name": "items", "range": "DirectionalAssociation"}}, + } + ) items: List[DirectionalAssociation] = Field( - default_factory=list, description="""A collection of items, with the type to be overriden by slot_usage""" + ..., + description="""A collection of items, with the type to be overriden by slot_usage""", + json_schema_extra={ + "linkml_meta": { + "alias": "items", + "domain_of": [ + "AssociationCountList", + "AssociationResults", + "CompactAssociationResults", + "AssociationTableResults", + "CategoryGroupedAssociationResults", + "EntityResults", + "HistoPheno", + "MappingResults", + "SearchResults", + ], + } + }, + ) + limit: int = Field( + ..., + description="""number of items to return in a response""", + json_schema_extra={"linkml_meta": {"alias": "limit", "domain_of": ["Results"]}}, + ) + offset: int = Field( + ..., + description="""offset into the total number of items""", + json_schema_extra={"linkml_meta": {"alias": "offset", "domain_of": ["Results"]}}, + ) + total: int = Field( + ..., + description="""total number of items matching a query""", + json_schema_extra={"linkml_meta": {"alias": "total", "domain_of": ["Results"]}}, ) - limit: int = Field(..., description="""number of items to return in a response""") - offset: int = Field(..., description="""offset into the total number of items""") - total: int = Field(..., description="""total number of items matching a query""") class CategoryGroupedAssociationResults(Results): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": {"items": {"name": "items", "range": "Association"}}, + } + ) counterpart_category: Optional[str] = Field( None, description="""The category of the counterpart entity in a given association, eg. the category of the entity that is not the subject""", + json_schema_extra={ + "linkml_meta": {"alias": "counterpart_category", "domain_of": ["CategoryGroupedAssociationResults"]} + }, ) items: List[Association] = Field( - default_factory=list, description="""A collection of items, with the type to be overriden by slot_usage""" + ..., + description="""A collection of items, with the type to be overriden by slot_usage""", + json_schema_extra={ + "linkml_meta": { + "alias": "items", + "domain_of": [ + "AssociationCountList", + "AssociationResults", + "CompactAssociationResults", + "AssociationTableResults", + "CategoryGroupedAssociationResults", + "EntityResults", + "HistoPheno", + "MappingResults", + "SearchResults", + ], + } + }, + ) + limit: int = Field( + ..., + description="""number of items to return in a response""", + json_schema_extra={"linkml_meta": {"alias": "limit", "domain_of": ["Results"]}}, + ) + offset: int = Field( + ..., + description="""offset into the total number of items""", + json_schema_extra={"linkml_meta": {"alias": "offset", "domain_of": ["Results"]}}, + ) + total: int = Field( + ..., + description="""total number of items matching a query""", + json_schema_extra={"linkml_meta": {"alias": "total", "domain_of": ["Results"]}}, ) - limit: int = Field(..., description="""number of items to return in a response""") - offset: int = Field(..., description="""offset into the total number of items""") - total: int = Field(..., description="""total number of items matching a query""") class EntityResults(Results): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": {"items": {"name": "items", "range": "Entity"}}, + } + ) items: List[Entity] = Field( - default_factory=list, description="""A collection of items, with the type to be overriden by slot_usage""" + ..., + description="""A collection of items, with the type to be overriden by slot_usage""", + json_schema_extra={ + "linkml_meta": { + "alias": "items", + "domain_of": [ + "AssociationCountList", + "AssociationResults", + "CompactAssociationResults", + "AssociationTableResults", + "CategoryGroupedAssociationResults", + "EntityResults", + "HistoPheno", + "MappingResults", + "SearchResults", + ], + } + }, + ) + limit: int = Field( + ..., + description="""number of items to return in a response""", + json_schema_extra={"linkml_meta": {"alias": "limit", "domain_of": ["Results"]}}, + ) + offset: int = Field( + ..., + description="""offset into the total number of items""", + json_schema_extra={"linkml_meta": {"alias": "offset", "domain_of": ["Results"]}}, + ) + total: int = Field( + ..., + description="""total number of items matching a query""", + json_schema_extra={"linkml_meta": {"alias": "total", "domain_of": ["Results"]}}, ) - limit: int = Field(..., description="""number of items to return in a response""") - offset: int = Field(..., description="""offset into the total number of items""") - total: int = Field(..., description="""total number of items matching a query""") class MappingResults(Results): @@ -646,174 +2414,322 @@ class MappingResults(Results): SSSOM Mappings returned as a results collection """ + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": {"items": {"name": "items", "range": "Mapping"}}, + } + ) + items: List[Mapping] = Field( - default_factory=list, description="""A collection of items, with the type to be overriden by slot_usage""" + ..., + description="""A collection of items, with the type to be overriden by slot_usage""", + json_schema_extra={ + "linkml_meta": { + "alias": "items", + "domain_of": [ + "AssociationCountList", + "AssociationResults", + "CompactAssociationResults", + "AssociationTableResults", + "CategoryGroupedAssociationResults", + "EntityResults", + "HistoPheno", + "MappingResults", + "SearchResults", + ], + } + }, + ) + limit: int = Field( + ..., + description="""number of items to return in a response""", + json_schema_extra={"linkml_meta": {"alias": "limit", "domain_of": ["Results"]}}, + ) + offset: int = Field( + ..., + description="""offset into the total number of items""", + json_schema_extra={"linkml_meta": {"alias": "offset", "domain_of": ["Results"]}}, + ) + total: int = Field( + ..., + description="""total number of items matching a query""", + json_schema_extra={"linkml_meta": {"alias": "total", "domain_of": ["Results"]}}, ) - limit: int = Field(..., description="""number of items to return in a response""") - offset: int = Field(..., description="""offset into the total number of items""") - total: int = Field(..., description="""total number of items matching a query""") class MultiEntityAssociationResults(Results): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) - id: str = Field(...) - name: Optional[str] = Field(None) - associated_categories: List[CategoryGroupedAssociationResults] = Field(default_factory=list) - limit: int = Field(..., description="""number of items to return in a response""") - offset: int = Field(..., description="""offset into the total number of items""") - total: int = Field(..., description="""total number of items matching a query""") + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) + name: Optional[str] = Field( + None, + json_schema_extra={"linkml_meta": {"alias": "name", "domain_of": ["Entity", "MultiEntityAssociationResults"]}}, + ) + associated_categories: List[CategoryGroupedAssociationResults] = Field( + ..., + json_schema_extra={ + "linkml_meta": {"alias": "associated_categories", "domain_of": ["MultiEntityAssociationResults"]} + }, + ) + limit: int = Field( + ..., + description="""number of items to return in a response""", + json_schema_extra={"linkml_meta": {"alias": "limit", "domain_of": ["Results"]}}, + ) + offset: int = Field( + ..., + description="""offset into the total number of items""", + json_schema_extra={"linkml_meta": {"alias": "offset", "domain_of": ["Results"]}}, + ) + total: int = Field( + ..., + description="""total number of items matching a query""", + json_schema_extra={"linkml_meta": {"alias": "total", "domain_of": ["Results"]}}, + ) class SearchResult(Entity): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": { + "category": {"name": "category", "required": True}, + "name": {"name": "name", "required": True}, + }, + } + ) - highlight: Optional[str] = Field(None, description="""matching text snippet containing html tags""") - score: Optional[float] = Field(None) - id: str = Field(...) - category: str = Field(...) - name: str = Field(...) - full_name: Optional[str] = Field(None, description="""The long form name of an entity""") + highlight: Optional[str] = Field( + None, + description="""matching text snippet containing html tags""", + json_schema_extra={"linkml_meta": {"alias": "highlight", "domain_of": ["SearchResult"]}}, + ) + score: Optional[float] = Field( + None, + json_schema_extra={ + "linkml_meta": {"alias": "score", "domain_of": ["BestMatch", "SemsimSearchResult", "SearchResult"]} + }, + ) + id: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "id", + "domain_of": [ + "TermInfo", + "Association", + "ExpandedCurie", + "Entity", + "HistoPheno", + "HistoBin", + "Mapping", + "MultiEntityAssociationResults", + ], + } + }, + ) + category: str = Field( + ..., + json_schema_extra={ + "linkml_meta": { + "alias": "category", + "domain_of": [ + "Association", + "AssociationCount", + "CompactAssociation", + "AssociationTypeMapping", + "Entity", + ], + } + }, + ) + name: str = Field( + ..., + json_schema_extra={"linkml_meta": {"alias": "name", "domain_of": ["Entity", "MultiEntityAssociationResults"]}}, + ) + full_name: Optional[str] = Field( + None, + description="""The long form name of an entity""", + json_schema_extra={"linkml_meta": {"alias": "full_name", "domain_of": ["Entity"]}}, + ) deprecated: Optional[bool] = Field( - None, description="""A boolean flag indicating that an entity is no longer considered current or valid.""" + None, + description="""A boolean flag indicating that an entity is no longer considered current or valid.""", + json_schema_extra={ + "linkml_meta": { + "alias": "deprecated", + "domain_of": ["Entity"], + "exact_mappings": ["oboInOwl:ObsoleteClass"], + } + }, + ) + description: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "description", "domain_of": ["Entity"]}} + ) + xref: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "xref", "domain_of": ["Entity"]}} + ) + provided_by: Optional[str] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "provided_by", "domain_of": ["Association", "Entity"]}} + ) + in_taxon: Optional[str] = Field( + None, + description="""The biolink taxon that the entity is in the closure of.""", + json_schema_extra={"linkml_meta": {"alias": "in_taxon", "domain_of": ["Entity", "Node"]}}, ) - description: Optional[str] = Field(None) - xref: Optional[List[str]] = Field(default_factory=list) - provided_by: Optional[str] = Field(None) - in_taxon: Optional[str] = Field(None, description="""The biolink taxon that the entity is in the closure of.""") in_taxon_label: Optional[str] = Field( - None, description="""The label of the biolink taxon that the entity is in the closure of.""" + None, + description="""The label of the biolink taxon that the entity is in the closure of.""", + json_schema_extra={"linkml_meta": {"alias": "in_taxon_label", "domain_of": ["Entity", "Node"]}}, + ) + symbol: Optional[str] = Field(None, json_schema_extra={"linkml_meta": {"alias": "symbol", "domain_of": ["Entity"]}}) + synonym: Optional[List[str]] = Field( + None, json_schema_extra={"linkml_meta": {"alias": "synonym", "domain_of": ["Entity"]}} + ) + uri: Optional[str] = Field( + None, + description="""The URI of the entity""", + json_schema_extra={"linkml_meta": {"alias": "uri", "domain_of": ["Entity"]}}, + ) + iri: Optional[str] = Field(None, json_schema_extra={"linkml_meta": {"alias": "iri", "domain_of": ["Entity"]}}) + namespace: Optional[str] = Field( + None, + description="""The namespace/prefix portion of this entity's identifier""", + json_schema_extra={"linkml_meta": {"alias": "namespace", "domain_of": ["Entity"]}}, ) - symbol: Optional[str] = Field(None) - synonym: Optional[List[str]] = Field(default_factory=list) - uri: Optional[str] = Field(None, description="""The URI of the entity""") - iri: Optional[str] = Field(None) - namespace: Optional[str] = Field(None, description="""The namespace/prefix portion of this entity's identifier""") has_phenotype: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype identifiers that are known to be associated with this entity""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype", "domain_of": ["Entity"]}}, ) has_phenotype_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype labels that are known to be associated with this entity""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_label", "domain_of": ["Entity"]}}, ) has_phenotype_closure: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype identifiers that are known to be associated with this entity expanded to include all ancestors""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_closure", "domain_of": ["Entity"]}}, ) has_phenotype_closure_label: Optional[List[str]] = Field( - default_factory=list, + None, description="""A list of phenotype labels that are known to be associated with this entity expanded to include all ancestors""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_closure_label", "domain_of": ["Entity"]}}, ) has_phenotype_count: Optional[int] = Field( - None, description="""A count of the number of phenotypes that are known to be associated with this entity""" + None, + description="""A count of the number of phenotypes that are known to be associated with this entity""", + json_schema_extra={"linkml_meta": {"alias": "has_phenotype_count", "domain_of": ["Entity"]}}, ) class SearchResults(Results): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta( + { + "from_schema": "https://w3id.org/monarch/monarch-py", + "slot_usage": {"items": {"name": "items", "range": "SearchResult"}}, + } + ) items: List[SearchResult] = Field( - default_factory=list, description="""A collection of items, with the type to be overriden by slot_usage""" + ..., + description="""A collection of items, with the type to be overriden by slot_usage""", + json_schema_extra={ + "linkml_meta": { + "alias": "items", + "domain_of": [ + "AssociationCountList", + "AssociationResults", + "CompactAssociationResults", + "AssociationTableResults", + "CategoryGroupedAssociationResults", + "EntityResults", + "HistoPheno", + "MappingResults", + "SearchResults", + ], + } + }, ) facet_fields: Optional[List[FacetField]] = Field( - default_factory=list, description="""Collection of facet field responses with the field values and counts""" + None, + description="""Collection of facet field responses with the field values and counts""", + json_schema_extra={"linkml_meta": {"alias": "facet_fields", "domain_of": ["SearchResults"]}}, ) facet_queries: Optional[List[FacetValue]] = Field( - default_factory=list, + None, description="""Collection of facet query responses with the query string values and counts""", + json_schema_extra={"linkml_meta": {"alias": "facet_queries", "domain_of": ["SearchResults"]}}, + ) + limit: int = Field( + ..., + description="""number of items to return in a response""", + json_schema_extra={"linkml_meta": {"alias": "limit", "domain_of": ["Results"]}}, + ) + offset: int = Field( + ..., + description="""offset into the total number of items""", + json_schema_extra={"linkml_meta": {"alias": "offset", "domain_of": ["Results"]}}, + ) + total: int = Field( + ..., + description="""total number of items matching a query""", + json_schema_extra={"linkml_meta": {"alias": "total", "domain_of": ["Results"]}}, ) - limit: int = Field(..., description="""number of items to return in a response""") - offset: int = Field(..., description="""offset into the total number of items""") - total: int = Field(..., description="""total number of items matching a query""") class TextAnnotationResult(ConfiguredBaseModel): + linkml_meta: ClassVar[LinkMLMeta] = LinkMLMeta({"from_schema": "https://w3id.org/monarch/monarch-py"}) - text: Optional[str] = Field(None, description="""text without tokens""") - tokens: Optional[List[Entity]] = Field(default_factory=list, description="""A collection of entities or concepts""") - start: Optional[int] = Field(None, description="""start position of the annotation""") - end: Optional[int] = Field(None, description="""end position of the annotation""") - - -class PairwiseSimilarity(ConfiguredBaseModel): - """ - Abstract grouping for representing individual pairwise similarities - """ - - None - - -class TermPairwiseSimilarity(PairwiseSimilarity): - """ - A simple pairwise similarity between two atomic concepts/terms - """ - - subject_id: str = Field(...) - subject_label: Optional[str] = Field(None, description="""The name of the subject entity""") - subject_source: Optional[str] = Field(None, description="""the source for the first entity""") - object_id: str = Field(...) - object_label: Optional[str] = Field(None, description="""The name of the object entity""") - object_source: Optional[str] = Field(None, description="""the source for the second entity""") - ancestor_id: Optional[str] = Field( + text: Optional[str] = Field( None, - description="""the most recent common ancestor of the two compared entities. If there are multiple MRCAs then the most informative one is selected""", + description="""text without tokens""", + json_schema_extra={"linkml_meta": {"alias": "text", "domain_of": ["TextAnnotationResult"]}}, ) - ancestor_label: Optional[str] = Field(None, description="""the name or label of the ancestor concept""") - ancestor_source: Optional[str] = Field(None) - object_information_content: Optional[float] = Field(None, description="""The IC of the object""") - subject_information_content: Optional[float] = Field(None, description="""The IC of the subject""") - ancestor_information_content: Optional[float] = Field(None, description="""The IC of the object""") - jaccard_similarity: Optional[float] = Field( - None, description="""The number of concepts in the intersection divided by the number in the union""" + tokens: Optional[List[Entity]] = Field( + None, + description="""A collection of entities or concepts""", + json_schema_extra={"linkml_meta": {"alias": "tokens", "domain_of": ["TextAnnotationResult"]}}, ) - cosine_similarity: Optional[float] = Field( - None, description="""the dot product of two node embeddings divided by the product of their lengths""" + start: Optional[int] = Field( + None, + description="""start position of the annotation""", + json_schema_extra={"linkml_meta": {"alias": "start", "domain_of": ["TextAnnotationResult"]}}, ) - dice_similarity: Optional[float] = Field(None) - phenodigm_score: Optional[float] = Field( - None, description="""the geometric mean of the jaccard similarity and the information content""" + end: Optional[int] = Field( + None, + description="""end position of the annotation""", + json_schema_extra={"linkml_meta": {"alias": "end", "domain_of": ["TextAnnotationResult"]}}, ) -class TermSetPairwiseSimilarity(PairwiseSimilarity): - """ - A simple pairwise similarity between two sets of concepts/terms - """ - - subject_termset: Optional[Dict[str, TermInfo]] = Field(default_factory=dict) - object_termset: Optional[Dict[str, TermInfo]] = Field(default_factory=dict) - subject_best_matches: Optional[Dict[str, BestMatch]] = Field(default_factory=dict) - object_best_matches: Optional[Dict[str, BestMatch]] = Field(default_factory=dict) - average_score: Optional[float] = Field(None) - best_score: Optional[float] = Field(None) - metric: Optional[str] = Field(None) - - -class TermInfo(ConfiguredBaseModel): - - id: str = Field(...) - label: Optional[str] = Field(None) - - -class BestMatch(ConfiguredBaseModel): - - match_source: str = Field(...) - match_source_label: Optional[str] = Field(None) - match_target: Optional[str] = Field(None, description="""the entity matches""") - match_target_label: Optional[str] = Field(None) - score: float = Field(...) - match_subsumer: Optional[str] = Field(None) - match_subsumer_label: Optional[str] = Field(None) - similarity: TermPairwiseSimilarity = Field(...) - - -class SemsimSearchResult(ConfiguredBaseModel): - - subject: Entity = Field(...) - score: Optional[float] = Field(None) - similarity: Optional[TermSetPairwiseSimilarity] = Field(None) - - # Model rebuild # see https://pydantic-docs.helpmanual.io/usage/models/#rebuilding-a-model +PairwiseSimilarity.model_rebuild() +TermPairwiseSimilarity.model_rebuild() +TermSetPairwiseSimilarity.model_rebuild() +TermInfo.model_rebuild() +BestMatch.model_rebuild() +SemsimSearchResult.model_rebuild() Association.model_rebuild() AssociationCountList.model_rebuild() CompactAssociation.model_rebuild() @@ -841,9 +2757,3 @@ class SemsimSearchResult(ConfiguredBaseModel): SearchResult.model_rebuild() SearchResults.model_rebuild() TextAnnotationResult.model_rebuild() -PairwiseSimilarity.model_rebuild() -TermPairwiseSimilarity.model_rebuild() -TermSetPairwiseSimilarity.model_rebuild() -TermInfo.model_rebuild() -BestMatch.model_rebuild() -SemsimSearchResult.model_rebuild() diff --git a/backend/src/monarch_py/datamodels/model.yaml b/backend/src/monarch_py/datamodels/model.yaml index b66b48b18..b31c5ec6e 100644 --- a/backend/src/monarch_py/datamodels/model.yaml +++ b/backend/src/monarch_py/datamodels/model.yaml @@ -100,6 +100,13 @@ classes: - stage_qualifier_category - stage_qualifier_closure - stage_qualifier_closure_label + - disease_context_qualifier + - disease_context_qualifier_label + - disease_context_qualifier_namespace + - disease_context_qualifier_category + - disease_context_qualifier_closure + - disease_context_qualifier_closure_label + AssociationCount: is_a: FacetValue slots: @@ -374,6 +381,13 @@ slots: the object or in the object closure, the direction is backwards. range: AssociationDirectionEnum required: true + disease_context_qualifier: + description: >- + A context qualifier representing a disease or condition in which a relationship expressed in an association took place. + examples: + - value: MONDO:0004979 # Asthma + - value: MONDO:0005148 # type 2 diabetes mellitus + range: string evidence_count: description: count of supporting documents, evidence codes, and sources supplying evidence range: integer @@ -731,6 +745,23 @@ slots: stage_qualifier_closure_label: multivalued: true description: Field containing stage_qualifier name and the names of all of it's ancestors + disease_context_qualifier_label: + is_a: name + description: The name of the disease_context_qualifier entity + disease_context_qualifier_namespace: + range: string + description: The namespace/prefix of the disease_context_qualifier entity + disease_context_qualifier_category: + is_a: category + description: The category of the disease_context_qualifier entity + disease_context_qualifier_closure: + multivalued: true + description: Field containing disease_context_qualifier id and the ids of all of it's ancestors + disease_context_qualifier_closure_label: + multivalued: true + description: Field containing disease_context_qualifier name and the names of all of it's ancestors + + # sssom slots mappings: diff --git a/backend/src/monarch_py/implementations/solr/solr_implementation.py b/backend/src/monarch_py/implementations/solr/solr_implementation.py index a432af2bf..6ca787f3c 100644 --- a/backend/src/monarch_py/implementations/solr/solr_implementation.py +++ b/backend/src/monarch_py/implementations/solr/solr_implementation.py @@ -93,18 +93,18 @@ def get_entity(self, id: str, extra: bool) -> Optional[Union[Node, Entity]]: return parse_entity(solr_document) # Get extra data (this logic is very tricky to test because of the calls to Solr) - node = Node(**solr_document) - node.uri = get_uri(node.id) - if "biolink:Disease" == node.category: + entity = Entity(**solr_document) + entity.uri = get_uri(entity.id) + if "biolink:Disease" == entity.category: # Get mode of inheritance mode_of_inheritance_associations = self.get_associations( subject=id, predicate=[AssociationPredicate.HAS_MODE_OF_INHERITANCE], direct=True, offset=0 ) if mode_of_inheritance_associations is not None and len(mode_of_inheritance_associations.items) == 1: - node.inheritance = self._get_counterpart_entity(mode_of_inheritance_associations.items[0], node) + entity.inheritance = self._get_counterpart_entity(mode_of_inheritance_associations.items[0], entity) # Get causal gene - node.causal_gene = [ - self._get_counterpart_entity(association, node) + entity.causal_gene = [ + self._get_counterpart_entity(association, entity) for association in self.get_associations( object=id, direct=True, @@ -112,9 +112,9 @@ def get_entity(self, id: str, extra: bool) -> Optional[Union[Node, Entity]]: category=[AssociationCategory.CAUSAL_GENE_TO_DISEASE_ASSOCIATION], ).items ] - if "biolink:Gene" == node.category: - node.causes_disease = [ - self._get_counterpart_entity(association, node) + if "biolink:Gene" == entity.category: + entity.causes_disease = [ + self._get_counterpart_entity(association, entity) for association in self.get_associations( subject=id, direct=True, @@ -122,12 +122,14 @@ def get_entity(self, id: str, extra: bool) -> Optional[Union[Node, Entity]]: category=[AssociationCategory.CAUSAL_GENE_TO_DISEASE_ASSOCIATION], ).items ] - - node.node_hierarchy = self._get_node_hierarchy(node) - node.association_counts = self.get_association_counts(id).items - node.external_links = get_links_for_field(node.xref) if node.xref else [] - node.provided_by_link = get_provided_by_link(node.provided_by) - node.mappings = self._get_mapped_entities(node) + node: Node = Node( + **entity.dict(), + node_hierarchy=self._get_node_hierarchy(entity), + association_counts=self.get_association_counts(id).items, + external_links=get_links_for_field(entity.xref) if entity.xref else [], + provided_by_link=get_provided_by_link(entity.provided_by), + mappings=self._get_mapped_entities(entity), + ) return node diff --git a/backend/tests/fixtures/association_counts.py b/backend/tests/fixtures/association_counts.py index 29d5ea233..689aba5d0 100644 --- a/backend/tests/fixtures/association_counts.py +++ b/backend/tests/fixtures/association_counts.py @@ -7,11 +7,11 @@ def association_counts(): "items": [ { "label": "Phenotype to Disease", - "count": 4012, + "count": 4115, "category": "biolink:DiseaseToPhenotypicFeatureAssociation", }, {"label": "Causal Gene", "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation"}, - {"label": "Correlated Gene", "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, + {"label": "Correlated Gene", "count": 151, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, {"label": "Variant to Disease", "count": 1, "category": "biolink:VariantToDiseaseAssociation"}, {"label": "Disease Model", "count": 237, "category": "biolink:GenotypeToDiseaseAssociation"}, ] diff --git a/backend/tests/fixtures/association_counts_response.py b/backend/tests/fixtures/association_counts_response.py index fbc288d79..d2b288345 100644 --- a/backend/tests/fixtures/association_counts_response.py +++ b/backend/tests/fixtures/association_counts_response.py @@ -5,7 +5,7 @@ def association_counts_response(): return { "responseHeader": { - "QTime": 2, + "QTime": 1, "params": { "facet.query": [ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', @@ -53,4691 +53,4644 @@ def association_counts_response(): }, }, "response": { - "num_found": 5013, + "num_found": 5116, "start": 0, "docs": [ { - "id": "uuid:1ccfb83b-400a-11ef-89e7-6fe0be41fbbf", - "original_subject": "OMIM:253280", + "id": "uuid:c66e15a4-8b41-11ef-b621-6045bdbae67e", + "original_subject": "Orphanet:397744", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:15236414"], + "primary_knowledge_source": "infores:orphanet", "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 2, - "has_percentage": 100.0, - "has_quotient": 1.0, - "has_total": 2, - "onset_qualifier": "HP:0003577", - "subject": "MONDO:0009667", - "object": "HP:0001290", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "frequency_qualifier": "HP:0040282", + "has_evidence": ["ECO:0000304"], + "negated": False, + "subject": "MONDO:0013711", + "object": "HP:0000762", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Generalized hypotonia", + "object_label": "Decreased nerve conduction velocity", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0082555", - "HP:0001290", - "BFO:0000002", - "UPHENO:0002320", - "UPHENO:0002816", + "UPHENO:0002976", + "UBERON:0001062", + "UBERON:0011216", + "BFO:0000020", + "UPHENO:0002433", + "UPHENO:0002530", + "BFO:0000015", + "UBERON:0000468", + "UPHENO:0002281", + "HP:0000118", + "GO:0003008", + "UBERON:0000061", + "UBERON:0000467", "BFO:0000002", - "UPHENO:0082557", - "BFO:0000001", + "UBERON:0010000", "UPHENO:0001001", - "HP:0011804", - "HP:0033127", - "UPHENO:0001003", - "UBERON:0000468", - "UBERON:0011216", + "UPHENO:0002963", + "HP:0001311", + "CL:0000111", + "HP:0032120", + "UPHENO:0002308", + "UPHENO:0004523", + "UPHENO:0002525", + "BFO:0000003", + "BFO:0000002", + "GO:0007154", "HP:0000001", - "HP:0003011", - "PATO:0000001", - "HP:0003808", - "UPHENO:0001002", - "UBERON:0001062", - "HP:0000118", + "UPHENO:0002385", + "HP:0012638", + "HP:0040129", "UPHENO:0002536", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0001630", - "BFO:0000020", "BFO:0000001", - "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0002332", - "HP:0001252", + "BFO:0000004", + "GO:0019226", + "HP:0030177", + "UPHENO:0005116", + "PATO:0000001", + "HP:0003134", + "GO:0009987", + "GO:0032501", + "GO:0050877", + "UBERON:0001016", + "HP:0000762", + "HP:0410008", + "UPHENO:0002568", + "UPHENO:0002463", + "UPHENO:0001002", + "GO:0008150", "BFO:0000040", - "UBERON:0000467", - "UBERON:0005090", + "UBERON:0000010", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", "UPHENO:0082875", - "UBERON:0000061", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", - "UBERON:0000062", + "UPHENO:0001003", + "BFO:0000001", + "UBERON:0000465", ], "object_closure_label": [ + "Abnormality of the peripheral nervous system", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "multicellular anatomical structure phenotype", + "entity", + "anatomical entity", + "nervous system process", + "Abnormality of peripheral nervous system electrophysiology", + "peripheral nervous system phenotype", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "organ system subdivision", + "entity", + "process", "specifically dependent continuant", - "decreased muscle organ tone", - "decreased anatomical entity tone", - "abnormal musculature", - "quality", - "phenotype", - "Phenotypic abnormality", - "material entity", - "Abnormal muscle tone", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", + "nervous system physiology phenotype", + "organ system subdivision phenotype", + "phenotypic effect", + "multicellular anatomical structure physiology phenotype", + "nervous system phenotype", + "Abnormal nerve conduction velocity", + "taxon specific phenotype", + "peripheral nervous system physiology phenotype", + "system process", + "anatomical structure", + "anatomical entity physiology phenotype", + "anatomical system phenotype", "multicellular organism", - "organ system subdivision", - "All", + "phenotype", "continuant", - "organ", - "abnormal anatomical entity", - "independent continuant", + "Abnormal nervous system electrophysiology", + "anatomical structure phenotype", + "Decreased nerve conduction velocity", + "quality", + "Abnormality of peripheral nerve conduction", + "organ system subdivision physiology phenotype", + "Phenotypic abnormality", + "cellular process", + "multicellular organismal process", "multicellular anatomical structure", - "Abnormality of the musculature", - "anatomical structure", - "muscle organ", - "abnormality of muscle organ physiology", - "abnormality of anatomical entity physiology", - "Hypotonia", - "material anatomical entity", - "Abnormal muscle physiology", + "anatomical entity phenotype", + "occurrent", "continuant", - "entity", - "musculature of body", - "musculature", - "Generalized hypotonia", - "abnormal anatomical entity", - "Phenotypic abnormality", - "anatomical system", - "muscle structure", - "abnormality of anatomical entity physiology", - "entity", - "abnormal phenotype by ontology source", - "anatomical entity", - ], - "onset_qualifier_label": "Congenital onset", - "onset_qualifier_category": "biolink:PhenotypicFeature", - "onset_qualifier_namespace": "HP", - "onset_qualifier_closure": ["HP:0031797", "HP:0000001", "HP:0003577", "HP:0012823", "HP:0003674"], - "onset_qualifier_closure_label": [ + "material anatomical entity", "All", - "Congenital onset", - "Clinical modifier", - "Clinical course", - "Onset", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "biological_process", + "material entity", + "nervous system", + "Abnormal peripheral nervous system physiology", + "independent continuant", + "peripheral nervous system", + "cell communication", + "transmission of nerve impulse", ], - "evidence_count": 2, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0001290", + "evidence_count": 1, + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0000762", }, { - "id": "uuid:1ccfb864-400a-11ef-89e7-6fe0be41fbbf", - "original_subject": "OMIM:253280", + "id": "uuid:c66e15a5-8b41-11ef-b621-6045bdbae67e", + "original_subject": "Orphanet:397744", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:15236414"], + "primary_knowledge_source": "infores:orphanet", "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 2, - "has_percentage": 100.0, - "has_quotient": 1.0, - "has_total": 2, - "onset_qualifier": "HP:0003577", - "subject": "MONDO:0009667", - "object": "HP:0000545", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "frequency_qualifier": "HP:0040282", + "has_evidence": ["ECO:0000304"], + "negated": False, + "subject": "MONDO:0013711", + "object": "HP:0001265", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", + "disease", + "hereditary neuromuscular disease", "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Myopia", + "object_label": "Hyporeflexia", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "HP:0000234", - "UBERON:0002104", - "HP:0000539", - "BFO:0000002", - "UPHENO:0001003", - "UBERON:0001444", - "UBERON:0013702", - "UBERON:0007811", - "UBERON:0000020", - "UPHENO:0001002", - "BFO:0000001", + "UPHENO:0049622", + "UPHENO:0005629", + "UPHENO:0005491", + "UPHENO:0050606", + "UBERON:0001062", + "UPHENO:0049587", "UBERON:0000061", - "UBERON:0000019", - "UBERON:0010230", - "UBERON:0000153", - "UBERON:0011676", - "UBERON:0013701", - "UPHENO:0001001", - "HP:0012373", - "UBERON:0015203", - "UPHENO:0075997", + "NBO:0000389", + "UPHENO:0002433", + "UPHENO:0053473", + "UPHENO:0002530", + "UPHENO:0079833", + "BFO:0000015", "UBERON:0000468", - "HP:0000315", - "HP:0000001", - "UPHENO:0003020", - "PATO:0000001", - "HP:0000271", - "BFO:0000040", - "UBERON:0001062", - "HP:0000152", - "UPHENO:0002910", - "HP:0000478", "HP:0000118", + "BFO:0000001", + "GO:0003008", + "NBO:0000403", + "NBO:0000001", + "HP:0001265", + "UPHENO:0049708", "UPHENO:0002536", - "BFO:0000004", - "UBERON:0015212", - "UBERON:0010314", - "UBERON:0001456", - "UBERON:0000970", + "UBERON:0000467", "BFO:0000002", - "UPHENO:0002844", - "UBERON:0004121", + "HP:0001315", + "UPHENO:0049703", + "GO:0008150", "UBERON:0010000", - "UBERON:0004456", - "UBERON:0000033", - "UBERON:0004088", - "BFO:0000001", - "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0002219", + "UPHENO:0001001", + "UPHENO:0052915", "BFO:0000020", - "UBERON:0001032", - "UPHENO:0002764", - "UPHENO:0002332", - "UBERON:0000467", - "UBERON:0000047", - "UPHENO:0082875", - "UBERON:0034923", - "HP:0000545", - "UPHENO:0075696", - "UBERON:0000475", - "UBERON:0000062", - ], - "object_closure_label": [ - "anatomical structure", - "subdivision of head", - "body proper", - "craniocervical region", - "sense organ", - "quality", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "phenotype", - "Abnormality of the face", + "UPHENO:0002963", + "HP:0011446", + "UPHENO:0049699", + "HP:0031826", + "UPHENO:0050613", + "UPHENO:0079826", + "UPHENO:0004523", + "UPHENO:0002525", + "UPHENO:0052178", + "UPHENO:0005433", + "UPHENO:0051276", + "BFO:0000003", + "BFO:0000002", + "GO:0009605", + "GO:0050879", + "GO:0007610", + "HP:0000001", + "UPHENO:0005625", + "UPHENO:0050079", + "UPHENO:0002385", + "HP:0012638", + "UPHENO:0050875", + "UPHENO:0049586", + "UPHENO:0080377", + "BFO:0000004", + "GO:0050882", + "NBO:0000338", + "GO:0050905", + "UPHENO:0001002", + "PATO:0000001", + "GO:0050896", + "GO:0032501", + "GO:0050881", + "NBO:0000313", + "GO:0050877", + "UBERON:0001016", + "UPHENO:0053022", + "NBO:0000388", + "HP:0100022", + "HP:0000708", + "BFO:0000040", + "GO:0060004", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", + "UPHENO:0050106", + "UPHENO:0082875", + "UPHENO:0001003", + "BFO:0000001", + "UBERON:0000465", + ], + "object_closure_label": [ + "multicellular organismal movement phenotype", + "biological_process phenotype", + "anatomical system", + "anatomical system physiology phenotype", + "decreased qualitatively response to external stimulus", + "material anatomical entity phenotype", + "entity", + "anatomical entity", + "musculoskeletal movement", + "behavior process", + "nervous system process", + "phenotypic effect", + "Atypical behavior", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "neuromuscular process phenotype", + "behavior phenotype", + "decreased response to external stimulus", + "decreased response to stimulus", + "process", + "anatomical structure", + "nervous system physiology phenotype", + "reflexive behavior", + "musculoskeletal movement phenotype", + "behavior process phenotype", + "nervous system phenotype", + "taxon specific phenotype", + "decreased qualitatively reflex", + "system process", + "multicellular organismal process phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "biological_process", + "reflex", "multicellular organism", - 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"has_evidence": ["ECO:0000269"], - "has_total": 10, - "subject": "MONDO:0024771", - "object": "HP:0000365", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "frequency_qualifier": "HP:0040282", + "has_evidence": ["ECO:0000304"], + "negated": False, + "subject": "MONDO:0013711", + "object": "HP:0003458", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000002", - "MONDO:0018949", - "MONDO:0100546", - "BFO:0000017", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "OGMS:0000031", - "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0024771", - "MONDO:0003847", - "MONDO:0020121", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", + "MONDO:0002545", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "specifically dependent continuant", - "disease", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", "distal myopathy", - "skeletal muscle disorder", - "neuromuscular disease", + "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "realizable entity", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "entity", - "myopathy, distal, 7, adult-onset, X-linked", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Hearing impairment", + "object_label": "EMG: myopathic abnormalities", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0049587", - "UBERON:0000465", - "GO:0007600", - "UBERON:0002105", - "HP:0031704", - "BFO:0000002", - "UPHENO:0001003", - "UBERON:0013702", - 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"UPHENO:0001005", "BFO:0000020", - "BFO:0000001", - "UBERON:0001032", - "UPHENO:0002903", - "UPHENO:0002764", - "UPHENO:0002332", - "GO:0008150", - "UBERON:0000467", - "HP:0000364", - "UPHENO:0050620", + "UPHENO:0003047", + "HP:0003011", + "UPHENO:0002308", + "UPHENO:0002525", + "UBERON:0005090", + "UPHENO:0002359", + "UPHENO:0003022", + "HP:0003458", + "UPHENO:0002568", + "BFO:0000002", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0002385", + "UBERON:0000465", + "UPHENO:0002536", + "BFO:0000004", + "UPHENO:0002320", + "UPHENO:0001002", + "UPHENO:0002386", + "HP:0011805", + "PATO:0000001", + "BFO:0000040", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0076710", + "UPHENO:0002267", "UPHENO:0082875", - "UBERON:0000061", - "UBERON:0034923", - "UPHENO:0050625", - "UPHENO:0052178", - "GO:0003008", - "UBERON:0000475", - "UBERON:0000062", + "UPHENO:0001003", + "BFO:0000001", ], "object_closure_label": [ - "abnormal anatomical entity", - "changed biological_process rate", + "organ physiology phenotype", + "anatomical system", + "muscle organ", + "material anatomical entity phenotype", "entity", - "body proper", - "craniocervical region", - "sense organ", - "decreased qualitatively sensory perception of sound", + "anatomical entity", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "multicellular organism", + "organ system subdivision", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormal skeletal muscle morphology", + "Abnormality of the musculature", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "taxon specific phenotype", + "anatomical structure", + "anatomical entity physiology phenotype", + "anatomical entity morphology phenotype", "quality", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "phenotype", + "organ", + "musculature phenotype", + "anatomical structure phenotype", + "material anatomical entity", "Phenotypic abnormality", - 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"non-connected functional system", - "abnormal ear", + "All", "continuant", - "entity", - "structure with developmental contribution from neural crest", - "abnormal craniocervical region", - "phenotype by ontology source", - "system process", - "sensory perception", - "Abnormal ear physiology", - "abnormal anatomical entity", - "material anatomical entity", - "ear", - "sensory perception of mechanical stimulus", - "decreased sensory perception of sound", - "Phenotypic abnormality", - "anatomical system", - "sensory system", - "Hearing abnormality", - "abnormal sensory perception", - "abnormality of anatomical entity physiology", - "Abnormality of the head", - "decreased biological_process", - "abnormal phenotype by ontology source", + "muscle organ morphology phenotype", + "material anatomical entity physiology phenotype", "material entity", - "anatomical entity", + "phenotype", + "muscle structure phenotype", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "EMG: myopathic abnormalities", + "multicellular anatomical structure phenotype", + "independent continuant", + "musculature of body", + "musculature", + "organ phenotype", ], - "evidence_count": 2, - "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0000365", + "evidence_count": 1, + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003458", }, { - "id": "uuid:1cc2bd25-400a-11ef-89e7-6fe0be41fbbf", - "original_subject": "OMIM:301075", + "id": "uuid:c66e15a9-8b41-11ef-b621-6045bdbae67e", + "original_subject": "Orphanet:397744", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:33974137"], + "primary_knowledge_source": "infores:orphanet", "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 5, - "has_percentage": 50.0, - "has_quotient": 0.5, - 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"MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", + "MONDO:0002545", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "specifically dependent continuant", - "disease", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", "distal myopathy", - "skeletal muscle disorder", - "neuromuscular disease", + "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - 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"UBERON:0007271", - "UBERON:0012475", - "UBERON:0010719", - "UBERON:0010712", - "UBERON:0014793", - "UBERON:0002091", - "UBERON:0005944", - "UBERON:0002090", - "UPHENO:0002964", - "BFO:0000040", - "UBERON:0001062", - "UBERON:0002529", - "UBERON:0007831", - "UBERON:0007269", - "UBERON:0004480", + "UBERON:0000062", + "UBERON:0000468", "HP:0000118", + "BFO:0000001", "BFO:0000002", - "UPHENO:0002536", - "BFO:0000004", - "UBERON:0015212", - "UBERON:0000915", - "UBERON:0002100", - "UBERON:0001474", - "UBERON:0010363", - "UBERON:0006058", - "UBERON:0010538", - "UBERON:0011249", - "UBERON:0011137", - "UPHENO:0002931", - "UPHENO:0015280", - "BFO:0000002", - "UPHENO:0087089", - "UPHENO:0079872", - "UPHENO:0002647", + "UBERON:0000061", "UBERON:0010000", - "UBERON:0002204", + "UBERON:0000467", + "CL:0002242", + "CL:0000188", + "CL:0000183", "UBERON:0001630", - "UBERON:0001443", + "UBERON:0002385", + "CL:0000211", + "UPHENO:0001001", "BFO:0000020", - "BFO:0000001", - "HP:0040070", - "UBERON:0000465", - "UPHENO:0001005", - "HP:0009127", - "UPHENO:0084763", - "UPHENO:0076727", - "UPHENO:0020584", - "UBERON:0011582", - "UBERON:0015061", - "UBERON:0004375", - "UBERON:0002102", - "UPHENO:0076718", - "UPHENO:0002896", - "UPHENO:0086635", - "UPHENO:0076710", - "UBERON:0000467", + "HP:0012084", + "CL:0002372", + "CL:0000737", + "UBERON:0001134", + "UPHENO:0087047", + "HP:0003011", + "UPHENO:0086462", + "UPHENO:0002525", + "CL:0000000", "UBERON:0005090", - "UBERON:0010740", - "UBERON:0002513", - "UBERON:0015057", - "UBERON:0001460", - "UPHENO:0002649", - "HP:0002813", - "HP:0001435", - "UBERON:0034925", - "UBERON:0004708", - "UBERON:0000075", - "UBERON:0000383", - "UBERON:0001015", - "UBERON:0010912", - "UPHENO:0075696", - "HP:0001446", - "HP:0011844", - "UBERON:0000475", - "UBERON:0000062", - "UBERON:0010741", - "UBERON:0007828", - "UBERON:0006849", - "UBERON:0008785", - "UBERON:0004481", - ], - "object_closure_label": [ - "abnormal appendicular skeleton morphology", - "specifically dependent continuant", - "Abnormal scapula morphology", - "anatomical structure", - "body proper", - "subdivision of organism along appendicular axis", - "skeletal element", - "bone of pectoral complex", - "girdle bone/zone", - "scapula", - "upper limb segment", - "musculature of upper limb", - "abnormal skeletal system morphology", - "abnormal musculature", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "appendage", - "appendage girdle region", - "subdivision of trunk", - "phenotype", - "abnormal skeletal system", - "skeletal system", - "Abnormality of the skeletal system", - "Abnormality of the musculoskeletal system", - "quality", - "Abnormality of limb bone", - "abnormal postcranial axial skeleton morphology", - "abnormal scapula morphology", - "abnormal arm", - "abnormal limb", - "multicellular organism", - "organ system subdivision", - "Scapular winging", - "All", - "abnormal limb bone morphology", - "abnormal anatomical entity morphology", - "organism subdivision", - "organ", - "limb bone", - "skeleton of limb", - "abnormal anatomical entity", - "Abnormality of limb bone morphology", - "Abnormality of the shoulder girdle musculature", + "UBERON:0018254", + "UBERON:0004120", + "UPHENO:0002568", + "HP:0000001", + "HP:0004303", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0077801", + "UPHENO:0079572", + "UBERON:0000465", + "UPHENO:0002536", + "BFO:0000004", + "CL:0000228", + "CL:0008002", + "CL:0000187", + "UBERON:0014892", + "UBERON:0002036", + "CL:0000393", + "UPHENO:0001002", + "UPHENO:0079562", + "HP:0003557", + "UPHENO:0075195", + "UPHENO:0088180", + "HP:0011805", + "PATO:0000001", + "BFO:0000040", + "UBERON:0000479", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0076710", + "UPHENO:0086172", + "UPHENO:0001003", + "BFO:0000001", + "RO:0002577", + ], + "object_closure_label": [ + "cell of skeletal muscle morphology phenotype", "multicellular anatomical structure", - "limb segment", - "pectoral girdle skeleton", - "pectoral appendage musculature", - "musculature of limb", - "Abnormality of the musculature", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical collection", - "paired limb/fin", - "musculoskeletal system", + "anatomical system", + "nucleate cell", + "cell of skeletal muscle", + "contractile cell", "muscle organ", - "chest", - "Abnormal skeletal morphology", + "muscle tissue", + "electrically active cell", + "entity", + "anatomical entity", + "phenotypic effect", + "morphology of myotube phenotype", + "organ system subdivision", + "myotube", + "striated muscle cell", + "skeletal muscle tissue", + "morphology of cell of skeletal muscle phenotype", + "Abnormal cell morphology", + "multinucleate cell", + "skeletal muscle fiber", + "muscle cell", + "skeletal muscle organ, vertebrate", + "striated muscle tissue", + "electrically responsive cell", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", "Abnormal skeletal muscle morphology", - "Phenotypic abnormality", - "abnormal limb bone", - "Abnormality of limbs", - "material anatomical entity", - "pectoral complex", - "thoracic segment of trunk", - "trunk", - "bone element", - "endochondral element", - "multi-limb segment region", - "paired limb/fin segment", - "appendicular skeletal system", - "axial skeletal system", - "Abnormality of the musculature of the upper limbs", - "abnormal anatomical entity morphology", - "continuant", - "Abnormality of the upper limb", - "abnormal pectoral girdle region", - "abnormal scapula morphology", + "Abnormality of the musculature", + "size of skeletal muscle fiber phenotype", + "cell", + "muscle structure", + "skeletal musculature", "mesoderm-derived structure", - "skeleton", - "limb", - "pectoral appendage", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "lateral structure", - "postcranial axial skeletal system", - "appendage musculature", - "skeleton of pectoral complex", - "girdle skeleton", - "limb skeleton subdivision", - "musculature of pectoral complex", - "appendicular skeleton", - "axial skeleton plus cranial skeleton", - "postcranial axial skeleton", - "Abnormal thorax morphology", - "abnormal bone of pectoral complex morphology", - "phenotype by ontology source", - "entity", - "Abnormal upper limb bone morphology", - "pectoral girdle region", - "appendage girdle complex", - "subdivision of skeletal system", - "musculature of body", - "musculature", - "subdivision of skeleton", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity", - "abnormal limb morphology", - "abnormal muscle organ morphology", - "system", - "protein-containing material entity", - "bone of appendage girdle complex", - "endochondral bone", - "scapula endochondral element", - "arm", + "taxon specific phenotype", + "anatomical structure", + "cell phenotype", + "Abnormal cellular phenotype", + "Abnormality of skeletal muscle fiber size", + "anatomical entity morphology phenotype", + "size of cell phenotype", + "quality", + "organ", + "multicellular organism", + "phenotype", + "musculature phenotype", + "anatomical structure phenotype", + "material anatomical entity", + "Increased variability in muscle fiber diameter", + "size of anatomical entity phenotype", + "morphology of muscle cell phenotype", "Phenotypic abnormality", + "material anatomical entity phenotype", + "size of cell of skeletal muscle phenotype", + "specifically dependent continuant", + "anatomical entity phenotype", + "system", + "All", + "Abnormal muscle fiber morphology", "continuant", - "abnormal chest", - "abnormal anatomical entity morphology in the independent continuant", + "muscle organ morphology phenotype", + "material entity", + "skeletal muscle tissue morphology phenotype", + "multicellular anatomical structure phenotype", "independent continuant", - "anatomical system", - "muscle structure", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "forelimb", - "abnormal musculature of upper limb", - "abnormal musculature of limb", + "tissue", + "musculature of body", + "musculature", "entity", - "pectoral girdle bone", - "abnormal phenotype by ontology source", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal axial skeleton morphology", - "Abnormal appendicular skeleton morphology", - "material entity", - "anatomical entity", + "continuant", ], - "evidence_count": 2, - "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0003691", + "evidence_count": 1, + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003557", }, { - "id": "uuid:1cc2bd26-400a-11ef-89e7-6fe0be41fbbf", - "original_subject": "OMIM:301075", + "id": "uuid:c66e15ab-8b41-11ef-b621-6045bdbae67e", + "original_subject": "Orphanet:397744", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:33974137"], + "primary_knowledge_source": "infores:orphanet", "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 7, - "has_percentage": 87.5, - "has_quotient": 0.875, - "has_total": 8, - "subject": "MONDO:0024771", - "object": "HP:0012548", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "frequency_qualifier": "HP:0040282", + "has_evidence": ["ECO:0000304"], + "negated": False, + "subject": "MONDO:0013711", + "object": "HP:0008180", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000002", - "MONDO:0018949", - "MONDO:0100546", - "BFO:0000017", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "OGMS:0000031", - "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0024771", - "MONDO:0003847", - "MONDO:0020121", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", + "MONDO:0002545", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "specifically dependent continuant", - "disease", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", "distal myopathy", - "skeletal muscle disorder", - "neuromuscular disease", + "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "realizable entity", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "entity", - "myopathy, distal, 7, adult-onset, X-linked", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Fatty replacement of skeletal muscle", + "object_label": "Mildly elevated creatine kinase", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "BFO:0000002", - "UPHENO:0001003", - "HP:0011805", - "UPHENO:0002816", - "UPHENO:0076692", - "BFO:0000001", - "UPHENO:0001001", - "HP:0033127", - "UBERON:0000468", - "UBERON:0011216", - "HP:0000001", - "HP:0003011", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000001", + "HP:0003236", "BFO:0000040", "UBERON:0001062", + "UPHENO:0076286", + "HP:0040081", + "UPHENO:0049587", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000468", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", + "BFO:0000020", + "UPHENO:0002530", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "BFO:0000015", + "UBERON:0000178", "HP:0000118", + "GO:0032991", + "CHEBI:23367", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", "UPHENO:0002536", + "UPHENO:0002554", + "UBERON:0000467", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", + "UPHENO:0089759", "BFO:0000002", - "BFO:0000004", "UBERON:0010000", - "UBERON:0001630", + "UPHENO:0001001", + "UPHENO:0089764", + "UPHENO:0002963", + "HP:0008180", + "HP:0430071", + "UBERON:0004120", + "UBERON:0006314", + "UPHENO:0051763", + "UPHENO:0046383", + "HP:0001871", + "UPHENO:0004459", + "BFO:0000003", + "BFO:0000002", + "HP:0000001", + "HP:0011021", + "UPHENO:0046284", + "UPHENO:0051612", + "UPHENO:0051804", + "UPHENO:0002525", + "GO:0042592", + "GO:0005575", + "CHEBI:24431", "UBERON:0000465", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0076710", - "HP:0012548", - "UBERON:0000467", - "UBERON:0005090", - "UBERON:0000061", - "UBERON:0000383", - "UBERON:0001015", - "UBERON:0000062", + "UPHENO:0077817", + "BFO:0000001", + "BFO:0000004", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "GO:0008152", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", + "CHEBI:16541", + "GO:0002185", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0049904", + "UPHENO:0001002", + "HP:0001939", + "PATO:0000001", + "GO:0008150", + "HP:0010876", + "HP:0033405", + "HP:0004364", + "UPHENO:0001003", + "BFO:0000001", + "PR:000050567", ], "object_closure_label": [ - "abnormal musculature", - "quality", - "phenotype", - "Phenotypic abnormality", + "homeostatic process phenotype", + "biological_process phenotype", + "anatomical system", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid", + "organic amino compound", + "carboxamide", + "primary amide", + "material anatomical entity phenotype", "entity", - "Abnormality of the musculoskeletal system", + "material entity", + "anatomical entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "Abnormality of metabolism/homeostasis", + "blood protein polypeptide chain level phenotype", + "blood chemical entity level phenotype", + "anatomical structure phenotype", + "blood", "multicellular organism", - "organ system subdivision", - "All", - "specifically dependent continuant", - "organ", - "independent continuant", - "multicellular anatomical structure", - "Abnormality of the musculature", + "entity", + "process", "anatomical structure", - "muscle organ", - "Abnormal skeletal muscle morphology", - "material anatomical entity", - "abnormal anatomical entity morphology", - "continuant", + "organism substance", + "specifically dependent continuant", + "role blood level phenotype", + "Abnormal circulating creatine kinase concentration", + "Elevated circulating creatine kinase concentration", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "Abnormal circulating organic compound concentration", + "phenotypic effect", + "mesoderm-derived structure", + "bodily fluid", + "peptide", + "multicellular organism chemical entity level phenotype", + "nitrogen molecular entity level phenotype", + "taxon specific phenotype", + "protein-containing complex", + "molecular entity", + "Abnormal circulating nitrogen compound concentration", + "anatomical system phenotype", + "Mildly elevated creatine kinase", + "quality", + "protein polypeptide chain", + "creatine kinase complex", + "organic molecular entity", + "nitrogen molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "phenotype", + "blood organic molecular entity level phenotype", "continuant", - "phenotype by ontology source", - "musculature of body", - "musculature", - "abnormal anatomical entity", - "abnormal muscle organ morphology", - "Fatty replacement of skeletal muscle", + "chemical entity level phenotype", + "homeostatic process", + "cellular_component", + "chemical entity", + "material anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", "Phenotypic abnormality", - "anatomical system", - "muscle structure", - "entity", - "abnormal phenotype by ontology source", - "material entity", - "anatomical entity", + "mesoderm-derived structure phenotype", + "metabolic process", + "multicellular anatomical structure", + "blood organic amino compound level phenotype", + "occurrent", + "continuant", + "protein-containing material entity", + "All", + "Abnormal circulating enzyme concentration", + "Abnormal circulating protein concentration", + "Abnormal circulating organic amino compound concentration", + "biological_process", + "hematopoietic system phenotype", + "independent continuant", + "blood oxygen molecular entity level phenotype", + "Abnormality of blood and blood-forming tissues", + "role bodily fluid level phenotype", + "blood nitrogen molecular entity level phenotype", + "Abnormal circulating metabolite concentration", + "anatomical entity phenotype", + "transferase complex", + "macromolecule", + "p-block molecular entity", ], - "evidence_count": 2, - "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0012548", + "evidence_count": 1, + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0008180", }, { - "id": "uuid:1cc2bd28-400a-11ef-89e7-6fe0be41fbbf", - "original_subject": "OMIM:301075", + "id": "uuid:c66e15ac-8b41-11ef-b621-6045bdbae67e", + "original_subject": "Orphanet:397744", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:33974137"], + "primary_knowledge_source": "infores:orphanet", "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 10, - "has_percentage": 100.0, - "has_quotient": 1.0, - "has_total": 10, - "subject": "MONDO:0024771", - "object": "HP:0009053", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "frequency_qualifier": "HP:0040282", + "has_evidence": ["ECO:0000304"], + "negated": False, + "subject": "MONDO:0013711", + "object": "HP:0008619", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000002", - "MONDO:0018949", - "MONDO:0100546", - "BFO:0000017", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "OGMS:0000031", - "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0024771", - "MONDO:0003847", - "MONDO:0020121", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", + "MONDO:0002545", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "specifically dependent continuant", - "disease", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", "distal myopathy", - "skeletal muscle disorder", - "neuromuscular disease", + "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "realizable entity", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "entity", - "myopathy, distal, 7, adult-onset, X-linked", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Distal lower limb muscle weakness", + "object_label": "Bilateral sensorineural hearing impairment", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "HP:0009053", - "HP:0040064", - "RO:0002577", - "PR:000050567", - "UBERON:0010707", - "UBERON:0014892", - "UPHENO:0001003", - "UBERON:0000154", - "UBERON:0010758", - "UPHENO:0002320", - "HP:0011805", - "UPHENO:0002816", - "UPHENO:0076692", - "UPHENO:0080575", - "HP:0002460", - "UBERON:0000061", - "UBERON:0000026", + "UPHENO:0089283", + "UPHENO:3000000", + "HP:0008619", + "UPHENO:0002240", + "UBERON:0001062", + "UBERON:0001032", + "UPHENO:0003025", + "UPHENO:0081581", + "HP:0000598", + "UPHENO:0049587", + "UBERON:0034923", + "UBERON:0034921", + "UBERON:0001846", "UPHENO:0001001", - "HP:0011804", - "UBERON:0002101", - "UBERON:0004709", - "HP:0001324", - "HP:0003690", - "HP:0033127", - "PATO:0000001", - "UPHENO:0002830", + "UPHENO:0005517", + "UPHENO:0002530", + "BFO:0000015", + "UBERON:0000062", "UBERON:0000468", - "UBERON:0011216", - "HP:0000001", - "HP:0003011", - "UBERON:0010709", - "UBERON:0007271", - "UBERON:0014792", - "UBERON:0010890", - "UPHENO:0001005", - "UPHENO:0001002", - "UPHENO:0080556", - "UBERON:0001062", - "UBERON:0000978", - "UBERON:0002529", - "UBERON:0004480", + "UPHENO:0078017", + "UPHENO:0087907", + "UPHENO:0005518", "HP:0000118", - "BFO:0000002", - "UPHENO:0002536", + "UPHENO:0002643", + "UPHENO:0052161", "BFO:0000001", - "BFO:0000004", - "UBERON:0015212", - "UBERON:0006058", - "UBERON:0010538", - "HP:0002814", - "UPHENO:0003070", + "UPHENO:0005513", + "UPHENO:0002211", "BFO:0000002", - "UPHENO:0080555", - "UPHENO:0002647", + "GO:0003008", + "UBERON:0000061", + "GO:0050954", + "UPHENO:0002526", + "HP:0000152", + "UPHENO:0077965", + "HP:0011389", + "UPHENO:0005512", + "UPHENO:0077889", + "UBERON:0000467", + "HP:0031704", + "UPHENO:0049703", + "GO:0008150", + "UBERON:0010314", + "UBERON:0004121", "UBERON:0010000", - "UBERON:0001630", "BFO:0000020", + "HP:0000407", + "UPHENO:0049699", + "UPHENO:0077990", + "UPHENO:0002903", + "UPHENO:0002764", + "UPHENO:0005437", + "UPHENO:0002308", + "UPHENO:0002525", + "UBERON:0000153", + "UBERON:0011676", + "UBERON:0013701", + "UPHENO:0052231", + "UPHENO:0050625", + "UPHENO:0052178", + "UPHENO:0005433", + "UPHENO:0078736", + "HP:0031703", + "UPHENO:0002301", + "UPHENO:0002568", + "BFO:0000003", + "HP:0000001", + "BFO:0000002", + "UPHENO:0052970", + "UPHENO:0076692", + "UPHENO:0002385", + "UPHENO:0052159", "UBERON:0000465", - "HP:0009127", - "BFO:0000001", - "UBERON:0002103", - "UPHENO:0002332", - "UPHENO:0076710", + "UBERON:0015203", + "UBERON:0013702", + "UBERON:0007811", + "UBERON:0000020", + "UPHENO:0080377", + "HP:0000359", + "UPHENO:0002536", + "BFO:0000004", + "GO:0007600", + "UBERON:0001690", + "UBERON:0002105", + "UPHENO:0001002", + "UPHENO:0002866", + "HP:0000234", + "PATO:0000001", + "UPHENO:0005596", + "GO:0032501", + "GO:0050877", + "UBERON:0004456", + "UBERON:0000033", + "UPHENO:0083958", + "HP:0000365", + "UPHENO:0086589", + "UPHENO:0002548", + "UPHENO:0083952", + "UPHENO:0052165", + "UPHENO:0002386", + "GO:0007605", + "UPHENO:0002844", + "UPHENO:0003044", + "UPHENO:0076730", + "UPHENO:0002467", + "UPHENO:0002553", "BFO:0000040", - "UBERON:0000467", - "UBERON:0005090", - "UBERON:0018254", - "HP:0007340", - "UPHENO:0082875", - "UBERON:0004708", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", "UBERON:0000475", - "UBERON:0000062", - "UBERON:0008784", + "UPHENO:0050234", + "UPHENO:0002267", + "UPHENO:0002926", + "HP:0000364", + "UPHENO:0050620", + "UPHENO:0002352", + "UPHENO:0050106", + "UPHENO:0082875", + "UPHENO:0052160", + "UPHENO:0001003", + "BFO:0000001", ], "object_closure_label": [ - "decreased pelvic complex muscle strength", - "specifically dependent continuant", - "Distal muscle weakness", + "biological_process in peripheral nervous system phenotype", + "craniocervical region morphology phenotype", + "decreased biological_process in nerve", + "Functional abnormality of the inner ear", + "organ physiology phenotype", + "Hearing impairment", + "biological_process phenotype", + "anatomical system", + "sensory perception of mechanical stimulus phenotype", + "decreased system process", + "material anatomical entity phenotype", "entity", + "anatomical entity", + "nervous system process", + "sensory system", + "phenotypic effect", + "sense organ phenotype", + "Abnormality of the head", + "ear morphology phenotype", + "multi organ part structure physiology phenotype", + "structure with developmental contribution from neural crest phenotype", + "anatomical structure physiology phenotype", + "decreased qualitatively nervous system process", + "multi organ part structure", + "internal ear", + "decreased qualitatively biological_process in peripheral nervous system", + "craniofacial/craniocervical phenotype", + "multi organ part structure phenotype", + "decreased qualitatively sensory perception", + "process", + "disconnected anatomical group", + "vestibulo-auditory system", + "multicellular organism morphology phenotype", + "Abnormality of the ear", + "Bilateral sensorineural hearing impairment", + "ear physiology phenotype", + "decreased sensory perception of sound in nerve", + "ear phenotype", + "internal ear phenotype", + "decreased sensory perception of mechanical stimulus", + "multicellular anatomical structure physiology phenotype", + "decreased qualitatively sensory perception of mechanical stimulus", + "Abnormality of the inner ear", + "taxon specific phenotype", + "system process", "anatomical structure", - "posterior region of body", - "subdivision of organism along appendicular axis", - "lower limb segment", - "abnormal musculature", - "appendage", - "phenotype", - "Phenotypic abnormality", - "decreased muscle organ strength", - "material entity", - "abnormal phenotype by ontology source", - "Muscle weakness", - "Limb muscle weakness", - "Abnormality of the musculoskeletal system", - "quality", - "abnormal limb", - "multicellular organism", - "organ system subdivision", - "All", - "organism subdivision", + "non-connected functional system", + "body proper", + "craniocervical region", + "sense organ", + "Hearing abnormality", + "sensory perception phenotype", + "structure with developmental contribution from neural crest physiology phenotype", + "multicellular organismal process phenotype", + "anatomical entity physiology phenotype", + "subdivision of organism along main body axis phenotype", + "Sensorineural hearing impairment", + "anatomical entity morphology phenotype", + "biological_process", "organ", - 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"disease", - "disposition", - "muscle tissue disorder", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Increased variability in muscle fiber diameter", + "object_label": "Areflexia", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UBERON:0000465", - "RO:0002577", - "CL:0000187", - "UBERON:0014892", - "UBERON:0002036", + "UPHENO:0049622", + "UPHENO:0050606", + "UBERON:0001062", "BFO:0000002", - "UPHENO:0085135", - "HP:0011805", - "UPHENO:0002816", - "UPHENO:0076692", - "UPHENO:0077801", - "CL:0000228", - "CL:0008002", - "CL:0000393", - "HP:0003557", - "UPHENO:0075195", - "UPHENO:0086462", - "BFO:0000001", - "UBERON:0000061", - "UPHENO:0001001", - "UBERON:0004120", - "UPHENO:0084928", - "HP:0025461", - "HP:0033127", - "UPHENO:0001003", + "HP:0001284", + "UPHENO:0049587", + "NBO:0000389", + "UPHENO:0002433", + "UPHENO:0002530", + "UPHENO:0079833", + "BFO:0000015", "UBERON:0000468", - 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"UBERON:0000467", - "CL:0000000", - "UBERON:0005090", - "UBERON:0018254", - "UPHENO:0086172", - "HP:0025354", - "UPHENO:0088180", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", - "UBERON:0000479", - "UBERON:0000062", + "GO:0060004", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", + "UPHENO:0050106", + "UPHENO:0082875", + "UPHENO:0001003", + "BFO:0000001", ], "object_closure_label": [ - "abnormal size of skeletal muscle fiber", + "multicellular organismal movement phenotype", + "biological_process phenotype", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "entity", + "anatomical entity", + "musculoskeletal movement", + "behavior process", + "nervous system process", + "phenotypic effect", + "Atypical behavior", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "neuromuscular process phenotype", + "behavior phenotype", + "entity", + "process", + "nervous system physiology phenotype", + "reflexive behavior", + "musculoskeletal movement phenotype", + "behavior process phenotype", + "nervous system phenotype", + "taxon specific phenotype", + "system process", "anatomical structure", - 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"Abnormality of the musculature", - "abnormal cell of skeletal muscle morphology", - "nucleate cell", - "cell of skeletal muscle", - "electrically active cell", - "contractile cell", - "muscle organ", - "muscle tissue", - "abnormal myotube morphology", - "Abnormal skeletal muscle morphology", - "abnormal cellular_component", - "cellular_component", - "abnormal size of cellular_component", - "abnormal anatomical entity morphology", - "abnormal size of cell", - "continuant", - "mesoderm-derived structure", - "abnormal muscle cell morphology", - "continuant", - "Abnormality of skeletal muscle fiber size", - "myotube", - "striated muscle cell", - "skeletal muscle tissue", - "abnormal cell morphology", - "abnormal skeletal muscle tissue morphology", - "entity", - "musculature of body", - "musculature", - "abnormal anatomical entity", - "abnormal muscle organ morphology", + "phenotype", + "Abnormality of mental function", + "nervous system process phenotype", + "anatomical structure phenotype", "material anatomical entity", - 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"subdivision of head", - "body proper", - "craniocervical region", - "sense organ", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "Phenotypic abnormality", - "Abnormality of the face", - "material entity", - "organ part", - "anterior segment of eyeball", - "anatomical wall", - "organ component layer", - "stroma", - "organ subunit", - "abnormal craniocervical region morphology", - "quality", - "tunica fibrosa of eyeball", - "cornea", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "musculoskeletal movement", + "behavior process", + "nervous system process", + "muscle system process", + "phenotypic effect", + "Atypical behavior", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "neuromuscular process phenotype", + "anatomical structure phenotype", "multicellular organism", - "Abnormality of the orbital region", - "All", - "specifically dependent continuant", - 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"lateral structure", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "Corneal opacity", - "abnormal orbital region", - "Abnormal eye morphology", - "abnormal face morphology", - "abnormal craniocervical region", - "phenotype by ontology source", - "Abnormal corneal stroma morphology", - "Abnormal cornea morphology", - "abnormal anatomical entity", - "protein-containing material entity", - "camera-type eye", - "neural crest-derived structure", - "eyeball of camera-type eye", - "ocular surface region", - "simple eye", + "muscle contraction phenotype", + "muscle system process phenotype", + "voluntary skeletal muscle contraction", + "musculoskeletal movement phenotype", + "behavior process phenotype", + "nervous system phenotype", + "anatomical entity", + "taxon specific phenotype", + "behavior", + "system process", + "multicellular organismal process phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "biological_process", "phenotype", + "continuant", + "Abnormality of mental function", + "nervous system process phenotype", + "material anatomical entity", + "Tremor", + "Abnormal central motor function", + "striated muscle contraction phenotype", + "quality", + "voluntary movement behavior", + "body part movement", + "striated muscle contraction", + "Abnormality of movement", + "voluntary skeletal muscle contraction phenotype", "Phenotypic abnormality", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical system", - "sensory system", + "voluntary musculoskeletal movement phenotype", + "multicellular organismal process", + "multicellular anatomical structure", + "skeletal muscle contraction", + "specifically dependent continuant", + "entity", + "occurrent", "continuant", - "Abnormality of the head", - "abnormal substantia propria of cornea morphology", - "abnormal phenotype by ontology source", - "abnormal anterior segment of eyeball morphology", - "anatomical entity", + "All", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "material entity", + "nervous system", + "Involuntary movements", + "independent continuant", + "system process phenotype", + "voluntary movement behavior phenotype", + "anatomical entity phenotype", + "multicellular organismal movement", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "neuromuscular process", + "muscle contraction", ], "evidence_count": 1, - 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"abnormal response to stimulus", - "specifically dependent continuant", - "abnormality of nervous system physiology", - "abnormal behavior process", - "abnormal nervous system", + "Abnormality of the musculature of the limbs", + "paired limb/fin phenotype", + "decreased anatomical entity strength", + "organ physiology phenotype", + "entity", + "anatomical system", + "muscle organ", + "material anatomical entity phenotype", + "multicellular anatomical structure phenotype", + "musculature of limb phenotype", + "anatomical entity", + "lateral structure", + "musculature of limb", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "limb phenotype", + "paired limb/fin", + "organ system subdivision", + "pelvic complex muscle", + "Muscle weakness", + "Limb muscle weakness", + "entity", + "skeletal muscle organ, vertebrate", + "decreased pelvic complex muscle strength", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormal skeletal muscle morphology", + "Abnormality of the musculature", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "skeletal musculature", + "limb", + "appendage musculature phenotype", + "skeletal muscle organ, vertebrate phenotype", "anatomical structure", - "subdivision of head", - "body proper", - "craniocervical region", - "sense organ", + "anatomical entity physiology phenotype", + "anatomical entity morphology phenotype", "quality", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "physiologic nystagmus", - "phenotype", - "Phenotypic abnormality", - "Abnormality of the face", - "Abnormality of the nervous system", - "biological_process", - "material entity", - "behavior process", - "musculoskeletal movement", - "nervous system process", - "multi organ part structure", - "internal ear", - "nervous system", - "abnormal craniocervical region morphology", - "Abnormality of the ear", - "Abnormal vestibulo-ocular reflex", - "multicellular organism", - "Abnormality of the orbital region", - "All", - "Abnormality of the inner ear", - "abnormal vestibulo-ocular reflex", - "occurrent", - "organism subdivision", + "Lower limb muscle weakness", "organ", - "vestibulo-auditory system", - "visual system", - "abnormal anatomical entity", - "abnormal ear morphology", - "Atypical behavior", - "process", - "independent continuant", - "ectoderm-derived structure", - "multicellular anatomical structure", - "abnormal behavior", - "abnormal musculoskeletal movement", - "abnormal physiologic nystagmus", - "abnormal eyeball of camera-type eye", - "abnormal eye movement", - "Abnormality of mental function", - "Abnormal nervous system physiology", - "disconnected anatomical group", - "entire sense organ system", - "involuntary movement behavior", - "eye movement", - "head", - "orbital region", - "face", - "abnormal internal ear", - "abnormal vestibulo-ocular reflex", - "abnormality of anatomical entity physiology", - "abnormal voluntary musculoskeletal movement", - "abnormal biological_process", - "material anatomical entity", - "eye", - "abnormal behavior process", - "Abnormality of head or neck", - "abnormal head morphology", - "abnormal face", - "Abnormality of the eye", - "abnormal eye movement", - "abnormal anatomical entity morphology", + "multicellular organism", + "phenotype", "continuant", - "Abnormality of movement", - "abnormal head", - "Abnormal eye physiology", - "abnormal physiologic nystagmus", - "abnormality of ear physiology", - "response to stimulus", - "multicellular organismal process", - "non-connected functional system", - "abnormal ear", - "Abnormality of eye movement", - "lateral structure", - "structure with developmental contribution from neural crest", - "abnormal orbital region", - "abnormal craniocervical region", - "Abnormal reflex", - "phenotype by ontology source", - "Nystagmus", - "entity", - "multicellular organismal movement", - "behavior", - "system process", - "kinesthetic behavior", - "voluntary musculoskeletal movement", - "neuromuscular process", - "Abnormal ear physiology", - "Abnormal involuntary eye movements", - "Functional abnormality of the inner ear", - "abnormal anatomical entity", - "camera-type eye", - "ear", - "eyeball of camera-type eye", - "body part movement", - "voluntary movement behavior", - "reflexive behavior", - "simple eye", + "musculature phenotype", + "anatomical structure phenotype", + "appendage phenotype", + "pelvic complex", "Phenotypic abnormality", - "anatomical system", - "sensory system", - "abnormality of anatomical entity physiology", + "Abnormal muscle physiology", + "multicellular anatomical structure", + "specifically dependent continuant", + "taxon specific phenotype", "continuant", - "Abnormality of the head", - "abnormality of internal ear physiology", - "Abnormal ear morphology", - "abnormal voluntary movement behavior", - "entity", - "vestibulo-ocular reflex", - "abnormal phenotype by ontology source", - "abnormality of camera-type eye physiology", - "Abnormal vestibular function", - "anatomical entity", - "cranial nerve related reflex", + "material anatomical entity", + "protein-containing material entity", + "system", + "appendage musculature", + "musculature of pelvic complex", + "All", + "muscle organ morphology phenotype", + "material anatomical entity physiology phenotype", + "organism subdivision phenotype", + "Abnormality of limbs", + "material entity", + "appendage", + "muscle structure phenotype", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "independent continuant", + "organism subdivision", + "musculature of body", + "musculature", + "decreased muscle organ strength", + "organ phenotype", + "anatomical entity phenotype", + "appendage girdle complex", ], "evidence_count": 1, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000639", + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0007340", }, ], }, "facet_counts": { "facet_fields": {}, "facet_queries": { - '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 4012, + '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 4115, '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, '(category:"biolink:PairwiseGeneToGeneInteraction") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, '(category:"biolink:GeneToPathwayAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, @@ -4764,7 +4717,7 @@ def association_counts_response(): '(category:"biolink:MacromolecularMachineToCellularComponentAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 126, - '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 146, + '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 151, '(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, '(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 1, '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, diff --git a/backend/tests/fixtures/association_response.py b/backend/tests/fixtures/association_response.py index 5ecde5b1b..af6520502 100644 --- a/backend/tests/fixtures/association_response.py +++ b/backend/tests/fixtures/association_response.py @@ -19,4684 +19,4637 @@ def association_response(): }, }, "response": { - "num_found": 5013, + "num_found": 5116, "start": 0, "docs": [ { - "id": "uuid:1ccfb83b-400a-11ef-89e7-6fe0be41fbbf", - "original_subject": "OMIM:253280", + "id": "uuid:c66e15a4-8b41-11ef-b621-6045bdbae67e", + "original_subject": "Orphanet:397744", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:15236414"], + "primary_knowledge_source": "infores:orphanet", "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 2, - "has_percentage": 100.0, - "has_quotient": 1.0, - "has_total": 2, - "onset_qualifier": "HP:0003577", - "subject": "MONDO:0009667", - "object": "HP:0001290", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "frequency_qualifier": "HP:0040282", + "has_evidence": ["ECO:0000304"], + "negated": False, + "subject": "MONDO:0013711", + "object": "HP:0000762", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Generalized hypotonia", + "object_label": "Decreased nerve conduction velocity", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0082555", - "HP:0001290", - "BFO:0000002", - "UPHENO:0002320", - "UPHENO:0002816", + "UPHENO:0002976", + "UBERON:0001062", + "UBERON:0011216", + "BFO:0000020", + "UPHENO:0002433", + "UPHENO:0002530", + "BFO:0000015", + "UBERON:0000468", + "UPHENO:0002281", + "HP:0000118", + "GO:0003008", + "UBERON:0000061", + "UBERON:0000467", "BFO:0000002", - "UPHENO:0082557", - "BFO:0000001", + "UBERON:0010000", "UPHENO:0001001", - "HP:0011804", - "HP:0033127", - "UPHENO:0001003", - "UBERON:0000468", - "UBERON:0011216", + "UPHENO:0002963", + "HP:0001311", + "CL:0000111", + "HP:0032120", + "UPHENO:0002308", + "UPHENO:0004523", + "UPHENO:0002525", + "BFO:0000003", + "BFO:0000002", + "GO:0007154", "HP:0000001", - "HP:0003011", - "PATO:0000001", - "HP:0003808", - "UPHENO:0001002", - "UBERON:0001062", - "HP:0000118", + "UPHENO:0002385", + "HP:0012638", + "HP:0040129", "UPHENO:0002536", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0001630", - "BFO:0000020", "BFO:0000001", - "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0002332", - "HP:0001252", + "BFO:0000004", + "GO:0019226", + "HP:0030177", + "UPHENO:0005116", + "PATO:0000001", + "HP:0003134", + "GO:0009987", + "GO:0032501", + "GO:0050877", + "UBERON:0001016", + "HP:0000762", + "HP:0410008", + "UPHENO:0002568", + "UPHENO:0002463", + "UPHENO:0001002", + "GO:0008150", "BFO:0000040", - "UBERON:0000467", - "UBERON:0005090", + "UBERON:0000010", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", "UPHENO:0082875", - "UBERON:0000061", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", - "UBERON:0000062", + "UPHENO:0001003", + "BFO:0000001", + "UBERON:0000465", ], "object_closure_label": [ + "Abnormality of the peripheral nervous system", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "multicellular anatomical structure phenotype", + "entity", + "anatomical entity", + "nervous system process", + "Abnormality of peripheral nervous system electrophysiology", + "peripheral nervous system phenotype", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "organ system subdivision", + "entity", + "process", "specifically dependent continuant", - "decreased muscle organ tone", - "decreased anatomical entity tone", - "abnormal musculature", - "quality", - "phenotype", - "Phenotypic abnormality", - "material entity", - "Abnormal muscle tone", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", + "nervous system physiology phenotype", + "organ system subdivision phenotype", + "phenotypic effect", + "multicellular anatomical structure physiology phenotype", + "nervous system phenotype", + "Abnormal nerve conduction velocity", + "taxon specific phenotype", + "peripheral nervous system physiology phenotype", + "system process", + "anatomical structure", + "anatomical entity physiology phenotype", + "anatomical system phenotype", "multicellular organism", - "organ system subdivision", - "All", + "phenotype", "continuant", - "organ", - "abnormal anatomical entity", - "independent continuant", + "Abnormal nervous system electrophysiology", + "anatomical structure phenotype", + "Decreased nerve conduction velocity", + "quality", + "Abnormality of peripheral nerve conduction", + "organ system subdivision physiology phenotype", + "Phenotypic abnormality", + "cellular process", + "multicellular organismal process", "multicellular anatomical structure", - "Abnormality of the musculature", - "anatomical structure", - "muscle organ", - "abnormality of muscle organ physiology", - "abnormality of anatomical entity physiology", - "Hypotonia", - "material anatomical entity", - "Abnormal muscle physiology", + "anatomical entity phenotype", + "occurrent", "continuant", - "entity", - "musculature of body", - "musculature", - "Generalized hypotonia", - "abnormal anatomical entity", - "Phenotypic abnormality", - "anatomical system", - "muscle structure", - "abnormality of anatomical entity physiology", - "entity", - "abnormal phenotype by ontology source", - "anatomical entity", - ], - "onset_qualifier_label": "Congenital onset", - "onset_qualifier_category": "biolink:PhenotypicFeature", - "onset_qualifier_namespace": "HP", - "onset_qualifier_closure": ["HP:0031797", "HP:0000001", "HP:0003577", "HP:0012823", "HP:0003674"], - "onset_qualifier_closure_label": [ + "material anatomical entity", "All", - "Congenital onset", - "Clinical modifier", - "Clinical course", - "Onset", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "biological_process", + "material entity", + "nervous system", + "Abnormal peripheral nervous system physiology", + "independent continuant", + "peripheral nervous system", + "cell communication", + "transmission of nerve impulse", ], - "evidence_count": 2, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0001290", + "evidence_count": 1, + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0000762", }, { - "id": "uuid:1ccfb864-400a-11ef-89e7-6fe0be41fbbf", - "original_subject": "OMIM:253280", + "id": "uuid:c66e15a5-8b41-11ef-b621-6045bdbae67e", + "original_subject": "Orphanet:397744", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:15236414"], + "primary_knowledge_source": "infores:orphanet", "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 2, - "has_percentage": 100.0, - "has_quotient": 1.0, - "has_total": 2, - "onset_qualifier": "HP:0003577", - "subject": "MONDO:0009667", - "object": "HP:0000545", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "frequency_qualifier": "HP:0040282", + "has_evidence": ["ECO:0000304"], + "negated": False, + "subject": "MONDO:0013711", + "object": "HP:0001265", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", + "disease", + "hereditary neuromuscular disease", "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Myopia", + "object_label": "Hyporeflexia", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "HP:0000234", - 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"UPHENO:0001005", "BFO:0000020", - "BFO:0000001", - "UBERON:0001032", - "UPHENO:0002903", - "UPHENO:0002764", - "UPHENO:0002332", - "GO:0008150", - "UBERON:0000467", - "HP:0000364", - "UPHENO:0050620", + "UPHENO:0003047", + "HP:0003011", + "UPHENO:0002308", + "UPHENO:0002525", + "UBERON:0005090", + "UPHENO:0002359", + "UPHENO:0003022", + "HP:0003458", + "UPHENO:0002568", + "BFO:0000002", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0002385", + "UBERON:0000465", + "UPHENO:0002536", + "BFO:0000004", + "UPHENO:0002320", + "UPHENO:0001002", + "UPHENO:0002386", + "HP:0011805", + "PATO:0000001", + "BFO:0000040", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0076710", + "UPHENO:0002267", "UPHENO:0082875", - "UBERON:0000061", - "UBERON:0034923", - "UPHENO:0050625", - "UPHENO:0052178", - "GO:0003008", - "UBERON:0000475", - "UBERON:0000062", + "UPHENO:0001003", + "BFO:0000001", ], "object_closure_label": [ - "abnormal anatomical entity", - "changed biological_process rate", + "organ physiology phenotype", + "anatomical system", + "muscle organ", + "material anatomical entity phenotype", "entity", - 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"organ", - "limb bone", - "skeleton of limb", - "abnormal anatomical entity", - "Abnormality of limb bone morphology", - "Abnormality of the shoulder girdle musculature", + "UBERON:0018254", + "UBERON:0004120", + "UPHENO:0002568", + "HP:0000001", + "HP:0004303", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0077801", + "UPHENO:0079572", + "UBERON:0000465", + "UPHENO:0002536", + "BFO:0000004", + "CL:0000228", + "CL:0008002", + "CL:0000187", + "UBERON:0014892", + "UBERON:0002036", + "CL:0000393", + "UPHENO:0001002", + "UPHENO:0079562", + "HP:0003557", + "UPHENO:0075195", + "UPHENO:0088180", + "HP:0011805", + "PATO:0000001", + "BFO:0000040", + "UBERON:0000479", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0076710", + "UPHENO:0086172", + "UPHENO:0001003", + "BFO:0000001", + "RO:0002577", + ], + "object_closure_label": [ + "cell of skeletal muscle morphology phenotype", "multicellular anatomical structure", - "limb segment", - "pectoral girdle skeleton", - "pectoral appendage musculature", - "musculature of limb", - "Abnormality of the musculature", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical collection", - "paired limb/fin", - "musculoskeletal system", + "anatomical system", + "nucleate cell", + "cell of skeletal muscle", + "contractile cell", "muscle organ", - "chest", - "Abnormal skeletal morphology", + "muscle tissue", + "electrically active cell", + "entity", + "anatomical entity", + "phenotypic effect", + "morphology of myotube phenotype", + "organ system subdivision", + "myotube", + "striated muscle cell", + "skeletal muscle tissue", + "morphology of cell of skeletal muscle phenotype", + "Abnormal cell morphology", + "multinucleate cell", + "skeletal muscle fiber", + "muscle cell", + "skeletal muscle organ, vertebrate", + "striated muscle tissue", + "electrically responsive cell", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", "Abnormal skeletal muscle morphology", - "Phenotypic abnormality", - "abnormal limb bone", - "Abnormality of limbs", - "material anatomical entity", - "pectoral complex", - "thoracic segment of trunk", - "trunk", - "bone element", - "endochondral element", - "multi-limb segment region", - "paired limb/fin segment", - "appendicular skeletal system", - "axial skeletal system", - "Abnormality of the musculature of the upper limbs", - "abnormal anatomical entity morphology", - "continuant", - "Abnormality of the upper limb", - "abnormal pectoral girdle region", - "abnormal scapula morphology", + "Abnormality of the musculature", + "size of skeletal muscle fiber phenotype", + "cell", + "muscle structure", + "skeletal musculature", "mesoderm-derived structure", - "skeleton", - "limb", - "pectoral appendage", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "lateral structure", - "postcranial axial skeletal system", - "appendage musculature", - "skeleton of pectoral complex", - "girdle skeleton", - "limb skeleton subdivision", - "musculature of pectoral complex", - "appendicular skeleton", - "axial skeleton plus cranial skeleton", - "postcranial axial skeleton", - "Abnormal thorax morphology", - "abnormal bone of pectoral complex morphology", - "phenotype by ontology source", - "entity", - "Abnormal upper limb bone morphology", - "pectoral girdle region", - "appendage girdle complex", - "subdivision of skeletal system", - "musculature of body", - "musculature", - "subdivision of skeleton", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity", - "abnormal limb morphology", - "abnormal muscle organ morphology", - "system", - "protein-containing material entity", - "bone of appendage girdle complex", - "endochondral bone", - "scapula endochondral element", - "arm", + "taxon specific phenotype", + "anatomical structure", + "cell phenotype", + "Abnormal cellular phenotype", + "Abnormality of skeletal muscle fiber size", + "anatomical entity morphology phenotype", + "size of cell phenotype", + "quality", + "organ", + "multicellular organism", + "phenotype", + "musculature phenotype", + "anatomical structure phenotype", + "material anatomical entity", + "Increased variability in muscle fiber diameter", + "size of anatomical entity phenotype", + "morphology of muscle cell phenotype", "Phenotypic abnormality", + "material anatomical entity phenotype", + "size of cell of skeletal muscle phenotype", + "specifically dependent continuant", + "anatomical entity phenotype", + "system", + "All", + "Abnormal muscle fiber morphology", "continuant", - "abnormal chest", - "abnormal anatomical entity morphology in the independent continuant", + "muscle organ morphology phenotype", + "material entity", + "skeletal muscle tissue morphology phenotype", + "multicellular anatomical structure phenotype", "independent continuant", - "anatomical system", - "muscle structure", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "forelimb", - "abnormal musculature of upper limb", - "abnormal musculature of limb", + "tissue", + "musculature of body", + "musculature", "entity", - "pectoral girdle bone", - "abnormal phenotype by ontology source", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal axial skeleton morphology", - "Abnormal appendicular skeleton morphology", - "material entity", - "anatomical entity", + "continuant", ], - "evidence_count": 2, - "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0003691", + "evidence_count": 1, + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003557", }, { - "id": "uuid:1cc2bd26-400a-11ef-89e7-6fe0be41fbbf", - "original_subject": "OMIM:301075", + "id": "uuid:c66e15ab-8b41-11ef-b621-6045bdbae67e", + "original_subject": "Orphanet:397744", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:33974137"], + "primary_knowledge_source": "infores:orphanet", "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 7, - "has_percentage": 87.5, - "has_quotient": 0.875, - "has_total": 8, - "subject": "MONDO:0024771", - "object": "HP:0012548", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "frequency_qualifier": "HP:0040282", + "has_evidence": ["ECO:0000304"], + "negated": False, + "subject": "MONDO:0013711", + "object": "HP:0008180", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000002", - "MONDO:0018949", - "MONDO:0100546", - "BFO:0000017", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "OGMS:0000031", - "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0024771", - "MONDO:0003847", - "MONDO:0020121", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", + "MONDO:0002545", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "specifically dependent continuant", - "disease", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", "distal myopathy", - "skeletal muscle disorder", - "neuromuscular disease", + "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "realizable entity", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "entity", - "myopathy, distal, 7, adult-onset, X-linked", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Fatty replacement of skeletal muscle", + "object_label": "Mildly elevated creatine kinase", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "BFO:0000002", - "UPHENO:0001003", - "HP:0011805", - "UPHENO:0002816", - "UPHENO:0076692", - "BFO:0000001", - "UPHENO:0001001", - "HP:0033127", - "UBERON:0000468", - "UBERON:0011216", - "HP:0000001", - "HP:0003011", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000001", + "HP:0003236", "BFO:0000040", "UBERON:0001062", + "UPHENO:0076286", + "HP:0040081", + "UPHENO:0049587", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000468", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", + "BFO:0000020", + "UPHENO:0002530", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "BFO:0000015", + "UBERON:0000178", "HP:0000118", + "GO:0032991", + "CHEBI:23367", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", "UPHENO:0002536", + "UPHENO:0002554", + "UBERON:0000467", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", + "UPHENO:0089759", "BFO:0000002", - "BFO:0000004", "UBERON:0010000", - "UBERON:0001630", + "UPHENO:0001001", + "UPHENO:0089764", + "UPHENO:0002963", + "HP:0008180", + "HP:0430071", + "UBERON:0004120", + "UBERON:0006314", + "UPHENO:0051763", + "UPHENO:0046383", + "HP:0001871", + "UPHENO:0004459", + "BFO:0000003", + "BFO:0000002", + "HP:0000001", + "HP:0011021", + "UPHENO:0046284", + "UPHENO:0051612", + "UPHENO:0051804", + "UPHENO:0002525", + "GO:0042592", + "GO:0005575", + "CHEBI:24431", "UBERON:0000465", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0076710", - "HP:0012548", - "UBERON:0000467", - "UBERON:0005090", - "UBERON:0000061", - "UBERON:0000383", - "UBERON:0001015", - "UBERON:0000062", + "UPHENO:0077817", + "BFO:0000001", + "BFO:0000004", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "GO:0008152", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", + "CHEBI:16541", + "GO:0002185", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0049904", + "UPHENO:0001002", + "HP:0001939", + "PATO:0000001", + "GO:0008150", + "HP:0010876", + "HP:0033405", + "HP:0004364", + "UPHENO:0001003", + "BFO:0000001", + "PR:000050567", ], "object_closure_label": [ - "abnormal musculature", - "quality", - "phenotype", - "Phenotypic abnormality", + "homeostatic process phenotype", + "biological_process phenotype", + "anatomical system", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid", + "organic amino compound", + "carboxamide", + "primary amide", + "material anatomical entity phenotype", "entity", - "Abnormality of the musculoskeletal system", + "material entity", + "anatomical entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "Abnormality of metabolism/homeostasis", + "blood protein polypeptide chain level phenotype", + "blood chemical entity level phenotype", + "anatomical structure phenotype", + "blood", "multicellular organism", - "organ system subdivision", - "All", - "specifically dependent continuant", - "organ", - "independent continuant", - "multicellular anatomical structure", - "Abnormality of the musculature", + "entity", + "process", "anatomical structure", - "muscle organ", - "Abnormal skeletal muscle morphology", - "material anatomical entity", - "abnormal anatomical entity morphology", - "continuant", + "organism substance", + "specifically dependent continuant", + "role blood level phenotype", + "Abnormal circulating creatine kinase concentration", + "Elevated circulating creatine kinase concentration", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "Abnormal circulating organic compound concentration", + "phenotypic effect", + "mesoderm-derived structure", + "bodily fluid", + "peptide", + "multicellular organism chemical entity level phenotype", + "nitrogen molecular entity level phenotype", + "taxon specific phenotype", + "protein-containing complex", + "molecular entity", + "Abnormal circulating nitrogen compound concentration", + "anatomical system phenotype", + "Mildly elevated creatine kinase", + "quality", + "protein polypeptide chain", + "creatine kinase complex", + "organic molecular entity", + "nitrogen molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "phenotype", + "blood organic molecular entity level phenotype", "continuant", - "phenotype by ontology source", - "musculature of body", - "musculature", - "abnormal anatomical entity", - "abnormal muscle organ morphology", - "Fatty replacement of skeletal muscle", + "chemical entity level phenotype", + "homeostatic process", + "cellular_component", + "chemical entity", + "material anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", "Phenotypic abnormality", - "anatomical system", - "muscle structure", - "entity", - "abnormal phenotype by ontology source", - "material entity", - "anatomical entity", + "mesoderm-derived structure phenotype", + "metabolic process", + "multicellular anatomical structure", + "blood organic amino compound level phenotype", + "occurrent", + "continuant", + "protein-containing material entity", + "All", + "Abnormal circulating enzyme concentration", + "Abnormal circulating protein concentration", + "Abnormal circulating organic amino compound concentration", + "biological_process", + "hematopoietic system phenotype", + "independent continuant", + "blood oxygen molecular entity level phenotype", + "Abnormality of blood and blood-forming tissues", + "role bodily fluid level phenotype", + "blood nitrogen molecular entity level phenotype", + "Abnormal circulating metabolite concentration", + "anatomical entity phenotype", + "transferase complex", + "macromolecule", + "p-block molecular entity", ], - "evidence_count": 2, - "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0012548", + "evidence_count": 1, + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0008180", }, { - "id": "uuid:1cc2bd28-400a-11ef-89e7-6fe0be41fbbf", - "original_subject": "OMIM:301075", + "id": "uuid:c66e15ac-8b41-11ef-b621-6045bdbae67e", + "original_subject": "Orphanet:397744", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:33974137"], + "primary_knowledge_source": "infores:orphanet", "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 10, - "has_percentage": 100.0, - "has_quotient": 1.0, - "has_total": 10, - "subject": "MONDO:0024771", - "object": "HP:0009053", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "frequency_qualifier": "HP:0040282", + "has_evidence": ["ECO:0000304"], + "negated": False, + "subject": "MONDO:0013711", + "object": "HP:0008619", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000002", - "MONDO:0018949", - "MONDO:0100546", - "BFO:0000017", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "OGMS:0000031", - "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0024771", - "MONDO:0003847", - "MONDO:0020121", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", + "MONDO:0002545", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "specifically dependent continuant", - "disease", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", "distal myopathy", - "skeletal muscle disorder", - "neuromuscular disease", + "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "realizable entity", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "entity", - "myopathy, distal, 7, adult-onset, X-linked", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Distal lower limb muscle weakness", + "object_label": "Bilateral sensorineural hearing impairment", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "HP:0009053", - "HP:0040064", - "RO:0002577", - "PR:000050567", - "UBERON:0010707", - "UBERON:0014892", - "UPHENO:0001003", - "UBERON:0000154", - "UBERON:0010758", - "UPHENO:0002320", - "HP:0011805", - "UPHENO:0002816", - "UPHENO:0076692", - "UPHENO:0080575", - "HP:0002460", - "UBERON:0000061", - "UBERON:0000026", + "UPHENO:0089283", + "UPHENO:3000000", + "HP:0008619", + "UPHENO:0002240", + "UBERON:0001062", + "UBERON:0001032", + "UPHENO:0003025", + "UPHENO:0081581", + "HP:0000598", + "UPHENO:0049587", + "UBERON:0034923", + "UBERON:0034921", + "UBERON:0001846", "UPHENO:0001001", - "HP:0011804", - "UBERON:0002101", - "UBERON:0004709", - "HP:0001324", - "HP:0003690", - "HP:0033127", - "PATO:0000001", - "UPHENO:0002830", + "UPHENO:0005517", + "UPHENO:0002530", + "BFO:0000015", + "UBERON:0000062", "UBERON:0000468", - "UBERON:0011216", - "HP:0000001", - "HP:0003011", - "UBERON:0010709", - "UBERON:0007271", - "UBERON:0014792", - "UBERON:0010890", - "UPHENO:0001005", - "UPHENO:0001002", - "UPHENO:0080556", - "UBERON:0001062", - "UBERON:0000978", - "UBERON:0002529", - "UBERON:0004480", + "UPHENO:0078017", + "UPHENO:0087907", + "UPHENO:0005518", "HP:0000118", - "BFO:0000002", - "UPHENO:0002536", + "UPHENO:0002643", + "UPHENO:0052161", "BFO:0000001", - "BFO:0000004", - "UBERON:0015212", - "UBERON:0006058", - "UBERON:0010538", - "HP:0002814", - "UPHENO:0003070", + "UPHENO:0005513", + "UPHENO:0002211", "BFO:0000002", - "UPHENO:0080555", - "UPHENO:0002647", + "GO:0003008", + "UBERON:0000061", + "GO:0050954", + "UPHENO:0002526", + "HP:0000152", + "UPHENO:0077965", + "HP:0011389", + "UPHENO:0005512", + "UPHENO:0077889", + "UBERON:0000467", + "HP:0031704", + "UPHENO:0049703", + "GO:0008150", + "UBERON:0010314", + "UBERON:0004121", "UBERON:0010000", - "UBERON:0001630", "BFO:0000020", + "HP:0000407", + "UPHENO:0049699", + "UPHENO:0077990", + "UPHENO:0002903", + "UPHENO:0002764", + "UPHENO:0005437", + "UPHENO:0002308", + "UPHENO:0002525", + "UBERON:0000153", + "UBERON:0011676", + "UBERON:0013701", + "UPHENO:0052231", + "UPHENO:0050625", + "UPHENO:0052178", + "UPHENO:0005433", + "UPHENO:0078736", + "HP:0031703", + "UPHENO:0002301", + "UPHENO:0002568", + "BFO:0000003", + "HP:0000001", + "BFO:0000002", + "UPHENO:0052970", + "UPHENO:0076692", + "UPHENO:0002385", + "UPHENO:0052159", "UBERON:0000465", - "HP:0009127", - "BFO:0000001", - "UBERON:0002103", - "UPHENO:0002332", - "UPHENO:0076710", + "UBERON:0015203", + "UBERON:0013702", + "UBERON:0007811", + "UBERON:0000020", + "UPHENO:0080377", + "HP:0000359", + "UPHENO:0002536", + "BFO:0000004", + "GO:0007600", + "UBERON:0001690", + "UBERON:0002105", + "UPHENO:0001002", + "UPHENO:0002866", + "HP:0000234", + "PATO:0000001", + "UPHENO:0005596", + "GO:0032501", + "GO:0050877", + "UBERON:0004456", + "UBERON:0000033", + "UPHENO:0083958", + "HP:0000365", + "UPHENO:0086589", + "UPHENO:0002548", + "UPHENO:0083952", + "UPHENO:0052165", + "UPHENO:0002386", + "GO:0007605", + "UPHENO:0002844", + "UPHENO:0003044", + "UPHENO:0076730", + "UPHENO:0002467", + "UPHENO:0002553", "BFO:0000040", - "UBERON:0000467", - "UBERON:0005090", - "UBERON:0018254", - "HP:0007340", - "UPHENO:0082875", - "UBERON:0004708", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", "UBERON:0000475", - "UBERON:0000062", - "UBERON:0008784", + "UPHENO:0050234", + "UPHENO:0002267", + "UPHENO:0002926", + "HP:0000364", + "UPHENO:0050620", + "UPHENO:0002352", + "UPHENO:0050106", + "UPHENO:0082875", + "UPHENO:0052160", + "UPHENO:0001003", + "BFO:0000001", ], "object_closure_label": [ - "decreased pelvic complex muscle strength", - "specifically dependent continuant", - "Distal muscle weakness", + "biological_process in peripheral nervous system phenotype", + "craniocervical region morphology phenotype", + "decreased biological_process in nerve", + "Functional abnormality of the inner ear", + "organ physiology phenotype", + "Hearing impairment", + "biological_process phenotype", + "anatomical system", + "sensory perception of mechanical stimulus phenotype", + "decreased system process", + "material anatomical entity phenotype", "entity", + "anatomical entity", + "nervous system process", + "sensory system", + "phenotypic effect", + "sense organ phenotype", + "Abnormality of the head", + "ear morphology phenotype", + "multi organ part structure physiology phenotype", + "structure with developmental contribution from neural crest phenotype", + "anatomical structure physiology phenotype", + "decreased qualitatively nervous system process", + "multi organ part structure", + "internal ear", + "decreased qualitatively biological_process in peripheral nervous system", + "craniofacial/craniocervical phenotype", + "multi organ part structure phenotype", + "decreased qualitatively sensory perception", + "process", + "disconnected anatomical group", + "vestibulo-auditory system", + "multicellular organism morphology phenotype", + "Abnormality of the ear", + "Bilateral sensorineural hearing impairment", + "ear physiology phenotype", + "decreased sensory perception of sound in nerve", + "ear phenotype", + "internal ear phenotype", + "decreased sensory perception of mechanical stimulus", + "multicellular anatomical structure physiology phenotype", + "decreased qualitatively sensory perception of mechanical stimulus", + "Abnormality of the inner ear", + "taxon specific phenotype", + "system process", "anatomical structure", - "posterior region of body", - "subdivision of organism along appendicular axis", - "lower limb segment", - "abnormal musculature", - "appendage", - "phenotype", - "Phenotypic abnormality", - "decreased muscle organ strength", - "material entity", - "abnormal phenotype by ontology source", - "Muscle weakness", - "Limb muscle weakness", - "Abnormality of the musculoskeletal system", - "quality", - "abnormal limb", - "multicellular organism", - "organ system subdivision", - "All", - "organism subdivision", + "non-connected functional system", + "body proper", + "craniocervical region", + "sense organ", + "Hearing abnormality", + "sensory perception phenotype", + "structure with developmental contribution from neural crest physiology phenotype", + "multicellular organismal process phenotype", + "anatomical entity physiology phenotype", + "subdivision of organism along main body axis phenotype", + "Sensorineural hearing impairment", + "anatomical entity morphology phenotype", + "biological_process", "organ", - 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"disease", - "disposition", - "muscle tissue disorder", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], - "object_label": "Increased variability in muscle fiber diameter", + "object_label": "Areflexia", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UBERON:0000465", - "RO:0002577", - "CL:0000187", - "UBERON:0014892", - "UBERON:0002036", + "UPHENO:0049622", + "UPHENO:0050606", + "UBERON:0001062", "BFO:0000002", - "UPHENO:0085135", - "HP:0011805", - "UPHENO:0002816", - "UPHENO:0076692", - "UPHENO:0077801", - "CL:0000228", - "CL:0008002", - "CL:0000393", - "HP:0003557", - "UPHENO:0075195", - "UPHENO:0086462", - "BFO:0000001", - "UBERON:0000061", - "UPHENO:0001001", - "UBERON:0004120", - "UPHENO:0084928", - "HP:0025461", - "HP:0033127", - "UPHENO:0001003", + "HP:0001284", + "UPHENO:0049587", + "NBO:0000389", + "UPHENO:0002433", + "UPHENO:0002530", + "UPHENO:0079833", + "BFO:0000015", "UBERON:0000468", - 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"UBERON:0000467", - "CL:0000000", - "UBERON:0005090", - "UBERON:0018254", - "UPHENO:0086172", - "HP:0025354", - "UPHENO:0088180", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", - "UBERON:0000479", - "UBERON:0000062", + "GO:0060004", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", + "UPHENO:0050106", + "UPHENO:0082875", + "UPHENO:0001003", + "BFO:0000001", ], "object_closure_label": [ - "abnormal size of skeletal muscle fiber", + "multicellular organismal movement phenotype", + "biological_process phenotype", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "entity", + "anatomical entity", + "musculoskeletal movement", + "behavior process", + "nervous system process", + "phenotypic effect", + "Atypical behavior", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "neuromuscular process phenotype", + "behavior phenotype", + "entity", + "process", + "nervous system physiology phenotype", + "reflexive behavior", + "musculoskeletal movement phenotype", + "behavior process phenotype", + "nervous system phenotype", + "taxon specific phenotype", + "system process", "anatomical structure", - 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"Abnormality of the musculature", - "abnormal cell of skeletal muscle morphology", - "nucleate cell", - "cell of skeletal muscle", - "electrically active cell", - "contractile cell", - "muscle organ", - "muscle tissue", - "abnormal myotube morphology", - "Abnormal skeletal muscle morphology", - "abnormal cellular_component", - "cellular_component", - "abnormal size of cellular_component", - "abnormal anatomical entity morphology", - "abnormal size of cell", - "continuant", - "mesoderm-derived structure", - "abnormal muscle cell morphology", - "continuant", - "Abnormality of skeletal muscle fiber size", - "myotube", - "striated muscle cell", - "skeletal muscle tissue", - "abnormal cell morphology", - "abnormal skeletal muscle tissue morphology", - "entity", - "musculature of body", - "musculature", - "abnormal anatomical entity", - "abnormal muscle organ morphology", + "phenotype", + "Abnormality of mental function", + "nervous system process phenotype", + "anatomical structure phenotype", "material anatomical entity", - 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"subdivision of head", - "body proper", - "craniocervical region", - "sense organ", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "Phenotypic abnormality", - "Abnormality of the face", - "material entity", - "organ part", - "anterior segment of eyeball", - "anatomical wall", - "organ component layer", - "stroma", - "organ subunit", - "abnormal craniocervical region morphology", - "quality", - "tunica fibrosa of eyeball", - "cornea", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "musculoskeletal movement", + "behavior process", + "nervous system process", + "muscle system process", + "phenotypic effect", + "Atypical behavior", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "neuromuscular process phenotype", + "anatomical structure phenotype", "multicellular organism", - "Abnormality of the orbital region", - "All", - "specifically dependent continuant", - 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"lateral structure", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "Corneal opacity", - "abnormal orbital region", - "Abnormal eye morphology", - "abnormal face morphology", - "abnormal craniocervical region", - "phenotype by ontology source", - "Abnormal corneal stroma morphology", - "Abnormal cornea morphology", - "abnormal anatomical entity", - "protein-containing material entity", - "camera-type eye", - "neural crest-derived structure", - "eyeball of camera-type eye", - "ocular surface region", - "simple eye", + "muscle contraction phenotype", + "muscle system process phenotype", + "voluntary skeletal muscle contraction", + "musculoskeletal movement phenotype", + "behavior process phenotype", + "nervous system phenotype", + "anatomical entity", + "taxon specific phenotype", + "behavior", + "system process", + "multicellular organismal process phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "biological_process", "phenotype", + "continuant", + "Abnormality of mental function", + "nervous system process phenotype", + "material anatomical entity", + "Tremor", + "Abnormal central motor function", + "striated muscle contraction phenotype", + "quality", + "voluntary movement behavior", + "body part movement", + "striated muscle contraction", + "Abnormality of movement", + "voluntary skeletal muscle contraction phenotype", "Phenotypic abnormality", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical system", - "sensory system", + "voluntary musculoskeletal movement phenotype", + "multicellular organismal process", + "multicellular anatomical structure", + "skeletal muscle contraction", + "specifically dependent continuant", + "entity", + "occurrent", "continuant", - "Abnormality of the head", - "abnormal substantia propria of cornea morphology", - "abnormal phenotype by ontology source", - "abnormal anterior segment of eyeball morphology", - "anatomical entity", + "All", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "material entity", + "nervous system", + "Involuntary movements", + "independent continuant", + "system process phenotype", + "voluntary movement behavior phenotype", + "anatomical entity phenotype", + "multicellular organismal movement", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "neuromuscular process", + "muscle contraction", ], "evidence_count": 1, - 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"abnormal response to stimulus", - "specifically dependent continuant", - "abnormality of nervous system physiology", - "abnormal behavior process", - "abnormal nervous system", + "Abnormality of the musculature of the limbs", + "paired limb/fin phenotype", + "decreased anatomical entity strength", + "organ physiology phenotype", + "entity", + "anatomical system", + "muscle organ", + "material anatomical entity phenotype", + "multicellular anatomical structure phenotype", + "musculature of limb phenotype", + "anatomical entity", + "lateral structure", + "musculature of limb", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "limb phenotype", + "paired limb/fin", + "organ system subdivision", + "pelvic complex muscle", + "Muscle weakness", + "Limb muscle weakness", + "entity", + "skeletal muscle organ, vertebrate", + "decreased pelvic complex muscle strength", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormal skeletal muscle morphology", + "Abnormality of the musculature", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "skeletal musculature", + "limb", + "appendage musculature phenotype", + "skeletal muscle organ, vertebrate phenotype", "anatomical structure", - "subdivision of head", - "body proper", - "craniocervical region", - "sense organ", + "anatomical entity physiology phenotype", + "anatomical entity morphology phenotype", "quality", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "physiologic nystagmus", - "phenotype", - "Phenotypic abnormality", - "Abnormality of the face", - "Abnormality of the nervous system", - "biological_process", - "material entity", - "behavior process", - "musculoskeletal movement", - "nervous system process", - "multi organ part structure", - "internal ear", - "nervous system", - "abnormal craniocervical region morphology", - "Abnormality of the ear", - "Abnormal vestibulo-ocular reflex", - "multicellular organism", - "Abnormality of the orbital region", - "All", - "Abnormality of the inner ear", - "abnormal vestibulo-ocular reflex", - "occurrent", - "organism subdivision", + "Lower limb muscle weakness", "organ", - "vestibulo-auditory system", - "visual system", - "abnormal anatomical entity", - "abnormal ear morphology", - "Atypical behavior", - "process", - "independent continuant", - "ectoderm-derived structure", - "multicellular anatomical structure", - "abnormal behavior", - "abnormal musculoskeletal movement", - "abnormal physiologic nystagmus", - "abnormal eyeball of camera-type eye", - "abnormal eye movement", - "Abnormality of mental function", - "Abnormal nervous system physiology", - "disconnected anatomical group", - "entire sense organ system", - "involuntary movement behavior", - "eye movement", - "head", - "orbital region", - "face", - "abnormal internal ear", - "abnormal vestibulo-ocular reflex", - "abnormality of anatomical entity physiology", - "abnormal voluntary musculoskeletal movement", - "abnormal biological_process", - "material anatomical entity", - "eye", - "abnormal behavior process", - "Abnormality of head or neck", - "abnormal head morphology", - "abnormal face", - "Abnormality of the eye", - "abnormal eye movement", - "abnormal anatomical entity morphology", + "multicellular organism", + "phenotype", "continuant", - "Abnormality of movement", - "abnormal head", - "Abnormal eye physiology", - "abnormal physiologic nystagmus", - "abnormality of ear physiology", - "response to stimulus", - "multicellular organismal process", - "non-connected functional system", - "abnormal ear", - "Abnormality of eye movement", - "lateral structure", - "structure with developmental contribution from neural crest", - "abnormal orbital region", - "abnormal craniocervical region", - "Abnormal reflex", - "phenotype by ontology source", - "Nystagmus", - "entity", - "multicellular organismal movement", - "behavior", - "system process", - "kinesthetic behavior", - "voluntary musculoskeletal movement", - "neuromuscular process", - "Abnormal ear physiology", - "Abnormal involuntary eye movements", - "Functional abnormality of the inner ear", - "abnormal anatomical entity", - "camera-type eye", - "ear", - "eyeball of camera-type eye", - "body part movement", - "voluntary movement behavior", - "reflexive behavior", - "simple eye", + "musculature phenotype", + "anatomical structure phenotype", + "appendage phenotype", + "pelvic complex", "Phenotypic abnormality", - "anatomical system", - "sensory system", - "abnormality of anatomical entity physiology", + "Abnormal muscle physiology", + "multicellular anatomical structure", + "specifically dependent continuant", + "taxon specific phenotype", "continuant", - "Abnormality of the head", - "abnormality of internal ear physiology", - "Abnormal ear morphology", - "abnormal voluntary movement behavior", - "entity", - "vestibulo-ocular reflex", - "abnormal phenotype by ontology source", - "abnormality of camera-type eye physiology", - "Abnormal vestibular function", - "anatomical entity", - "cranial nerve related reflex", + "material anatomical entity", + "protein-containing material entity", + "system", + "appendage musculature", + "musculature of pelvic complex", + "All", + "muscle organ morphology phenotype", + "material anatomical entity physiology phenotype", + "organism subdivision phenotype", + "Abnormality of limbs", + "material entity", + "appendage", + "muscle structure phenotype", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "independent continuant", + "organism subdivision", + "musculature of body", + "musculature", + "decreased muscle organ strength", + "organ phenotype", + "anatomical entity phenotype", + "appendage girdle complex", ], "evidence_count": 1, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000639", + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0007340", }, ], }, diff --git a/backend/tests/fixtures/association_table.py b/backend/tests/fixtures/association_table.py index c63daeebb..ead69f3e4 100644 --- a/backend/tests/fixtures/association_table.py +++ b/backend/tests/fixtures/association_table.py @@ -6,10 +6,10 @@ def association_table(): return { "limit": 5, "offset": 0, - "total": 4012, + "total": 4115, "items": [ { - "id": "uuid:22c98bea-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c0785538-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0958235", "original_subject": "OMIM:620727", @@ -17,56 +17,56 @@ def association_table(): "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0958235", - "MONDO:0100546", + "MONDO:0100545", + "MONDO:0002081", + "BFO:0000020", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000001", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0958235", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0000355", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001", ], "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "specifically dependent continuant", - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", - "entity", "hereditary skeletal muscle disorder", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "specifically dependent continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Ullrich congenital muscular dystrophy 1B", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", - "myopathy", - "congenital nervous system disorder", - "Ullrich congenital muscular dystrophy", - "hereditary disease", "disease", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "Ullrich congenital muscular dystrophy", + "entity", "continuant", - "disposition", - "muscle tissue disorder", + "human disease", + "skeletal muscle disorder", + "hereditary disease", + "Ullrich congenital muscular dystrophy 1B", + "congenital nervous system disorder", ], "subject_taxon": None, "subject_taxon_label": None, @@ -76,282 +76,342 @@ def association_table(): "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0076703", - "HP:0040064", - "RO:0002577", - "PR:000050567", - "UBERON:0010707", - "UBERON:0004905", - "UBERON:0002428", - "UBERON:0004381", - "UBERON:0005451", - "UBERON:0012140", - "UBERON:0012354", - "UBERON:0002398", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0076944", - "UPHENO:0086700", - "UPHENO:0079876", - "HP:0011843", - "UBERON:5002544", - "UBERON:0005881", - "UBERON:0010758", - "UBERON:0004765", - "UBERON:0012141", - "HP:0001155", - "HP:0011842", - "UPHENO:0076692", - "UPHENO:0084761", - "HP:0011297", - "UBERON:0034921", - "UBERON:0001434", - "UPHENO:0076740", - "BFO:0000001", - "UBERON:0000061", - "UBERON:0000153", - "UBERON:0000026", - "HP:0002817", - "HP:0006256", - "UBERON:0004770", - "UBERON:0004288", - "UBERON:0002101", - "UBERON:0004710", + "UPHENO:0003015", "UPHENO:0076723", "UPHENO:0002905", "HP:0034430", "HP:0000924", + "UPHENO:0076727", + "UPHENO:0002976", + "UBERON:0002102", + "UBERON:0002389", + "UBERON:0001460", + "UBERON:0010740", + "UBERON:0002513", + "UBERON:0002529", + "UBERON:0003657", + "UPHENO:0081581", "HP:0033127", - "HP:0040068", - "UPHENO:0002880", - "UPHENO:0002830", - "UBERON:0000468", + "UBERON:0034925", "UBERON:0011216", - "HP:0000001", - "PATO:0000001", - "UBERON:0010708", + "UBERON:0034921", + "UPHENO:0001001", + "BFO:0000020", + "UPHENO:0002530", + "UPHENO:0081440", + "UPHENO:0086635", + "UBERON:0004708", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0000468", + "UBERON:0010363", + "UBERON:0011249", + "UBERON:0010538", "UBERON:0010712", "UBERON:0002091", - "UBERON:0000982", - "UPHENO:0086633", - "UPHENO:0077421", - "UPHENO:0001002", - "HP:0006094", - "UPHENO:0002964", - "UBERON:0001062", - "UBERON:0002529", - "UBERON:0003657", - "HP:0001167", + "UPHENO:0002861", "HP:0001382", "HP:0000118", - "UPHENO:0002536", - "BFO:0000001", - "UBERON:0015212", - "UBERON:0001474", - "UBERON:0010363", - "UBERON:0006058", - "UBERON:0010538", - "UBERON:0011249", - "UPHENO:0001001", - "UPHENO:0015280", - "BFO:0000002", "UPHENO:0077419", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0002204", - "UBERON:5002389", - "UBERON:0002544", - "HP:0011729", - "BFO:0000020", + "UPHENO:0002643", + "BFO:0000002", + "UBERON:0000061", + "UBERON:0010708", + "UBERON:0005881", + "UBERON:0002470", + "UBERON:0008785", + "UBERON:0012139", + "UBERON:0003839", + "UPHENO:0002526", + "UPHENO:0076703", + "HP:0001167", "UPHENO:0002708", + "UPHENO:0002945", + "UPHENO:0002782", + "UPHENO:0002536", + "UPHENO:0076943", "HP:0430046", - "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0084763", - "UPHENO:0076727", - "UPHENO:0020584", + "UPHENO:0002600", + "UPHENO:0005092", + "UPHENO:0002554", + "UBERON:0001062", + "UBERON:0010000", + "UBERON:0000467", "UBERON:0011582", "UBERON:0015061", "UBERON:0004375", - "UBERON:0002102", - "UPHENO:0084766", + "UPHENO:0003095", + "UPHENO:0002964", + "UPHENO:0002632", + "UBERON:0005451", + "UBERON:0012140", + "UBERON:0012354", + "UBERON:0002398", + "UBERON:0012141", + "UPHENO:0002963", + "UPHENO:0003066", + "UBERON:0000982", "HP:0005922", "UPHENO:0087006", - "UPHENO:0002332", + "UPHENO:0002525", + "UBERON:0004120", + "UBERON:0004288", + "UBERON:0004770", + "UBERON:0002101", + "UBERON:0004710", + "UBERON:0000153", + "UBERON:0000026", + "UBERON:5002544", + "HP:0011729", + "UPHENO:0002559", + "UPHENO:0002983", + "UPHENO:0002870", "UPHENO:0002896", - "UPHENO:0081440", - "UPHENO:0086635", + "UPHENO:0002568", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0004476", + "UPHENO:0002733", + "UPHENO:0076692", + "UPHENO:0084761", + "UPHENO:0002385", + "UPHENO:0002880", + "UPHENO:0002830", + "UPHENO:0076944", + "UBERON:0000465", + "UBERON:0010758", + "UBERON:0004765", + "UPHENO:0076740", + "UPHENO:0002593", + "HP:0002817", + "UPHENO:0003065", + "BFO:0000001", + "BFO:0000004", + "UBERON:0010707", + "UBERON:0004381", + "UBERON:0002428", + "UBERON:0001434", + "UPHENO:0001002", + "UPHENO:0003049", + "PATO:0000001", + "HP:0040068", + "UBERON:0015212", + "UBERON:0002204", + "UBERON:0002544", + "UBERON:5002389", + "UBERON:0006058", + "UBERON:0001474", + "UPHENO:0086633", + "UPHENO:0077421", + "UPHENO:0084763", + "UPHENO:0003005", + "UPHENO:0084448", + "HP:0011844", + "UPHENO:0086700", + "UPHENO:0079876", + "HP:0011843", + "HP:0001155", + "HP:0011842", + "HP:0006094", "BFO:0000040", - "UBERON:0000467", - "UBERON:0004120", - "UBERON:0002389", - "UBERON:0010740", - "UBERON:0002513", - "UBERON:0001460", - "UPHENO:0082875", - "HP:0002813", - "UBERON:0034925", - "UBERON:0004708", "UBERON:0000075", + "UBERON:0000383", + "UBERON:0001015", "UBERON:0010912", - "UPHENO:0075696", - "UPHENO:0076943", - "UPHENO:0084448", - "HP:0011844", - "UBERON:0000475", - "UBERON:0000062", - "UBERON:0002470", - "UBERON:0008785", - "UBERON:0012139", - "UBERON:0003839", + "UBERON:0004905", + "UPHENO:0002269", + "HP:0006256", + "UPHENO:0002267", + "UPHENO:0002926", + "HP:0040064", + "UPHENO:0002944", + "UPHENO:0082875", + "HP:0002813", + "UPHENO:0001003", + "HP:0011297", + "UPHENO:0002586", + "BFO:0000001", + "PR:000050567", + "RO:0002577", ], "object_label": "Finger joint hypermobility", "object_closure_label": [ - "abnormal appendicular skeleton morphology", + "forelimb morphology phenotype", + "increased skeletal joint mobility", + "anatomical entity morphology in the appendage girdle complex phenotype", + "manus phenotype", + "paired limb/fin phenotype", + "autopod region phenotype", + "anatomical entity morphology in the manus phenotype", + "Abnormal appendicular skeleton morphology", + "multicellular anatomical structure", + "anatomical system", + "paired limb/fin skeleton", + "limb endochondral element", + "bone of free limb or fin", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "entity", + "lateral structure", + "forelimb", + "manual digit", + "arm", + "bone of appendage girdle complex", + "endochondral bone", + "limb segment", + "limb joint", + "phenotypic effect", + "anatomical structure physiology phenotype", + "arm phenotype", + "limb phenotype", + "skeletal joint mobility phenotype", + "paired limb/fin", + "organ system subdivision", + "multi organ part structure", + "skeletal joint", + "articulation phenotype", + "manus morphology phenotype", + "digit phenotype", + "Abnormal joint physiology", + "Abnormality of the skeletal system", + "increased anatomical entity mobility", + "multi organ part structure phenotype", + "paired limb/fin segment phenotype", + "entity", + "anatomical collection", + "skeleton of limb", + "limb bone", + "skeletal system", + "segment of manus", + "digitopodium region", + "acropodium region", + "manus", + "manual digitopodium region", "specifically dependent continuant", - "abnormal manus", - "anatomical structure", - "digit plus metapodial segment", - "autopodial extension", - "subdivision of organism along appendicular axis", - "skeletal element", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormality of the hand", + "Abnormal skeletal morphology", + "Finger joint hypermobility", + "anatomical entity", + "mesoderm-derived structure", + "skeleton", + "articular system", + "limb", + "pectoral appendage", "autopod region", "upper limb segment", "segment of autopod", "forelimb joint", - "abnormal skeletal system morphology", - "quality", - "anterior region of body", - "appendage", - "manual digitopodium region", - "Phenotypic abnormality", - "Finger joint hypermobility", - "abnormal skeletal system", - "material entity", - "multi organ part structure", - "skeletal system", - "abnormal forelimb morphology", - "increased skeletal joint mobility", - "abnormal manus morphology", - "abnormal digit", - "Abnormal joint physiology", - "Abnormality of the skeletal system", - "Abnormality of the musculoskeletal system", - "Abnormality of limb bone", - "abnormal arm", - "abnormal limb", - "multicellular organism", - "organ system subdivision", - "All", - "abnormal limb bone morphology", - "abnormal anatomical entity morphology", - "organism subdivision", - "organ", - "articulation", - "limb bone", - "skeleton of limb", - "abnormal anatomical entity", - "Abnormality of limb bone morphology", - "independent continuant", - "multicellular anatomical structure", - "limb segment", - "limb joint", "Abnormality of joint mobility", - "abnormal skeletal joint mobility", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal musculoskeletal physiology", - "anatomical collection", - "paired limb/fin", - "musculoskeletal system", - "manual digit plus metapodial segment", + "Abnormality of the upper limb", + "taxon specific phenotype", + "Abnormal digit morphology", + "upper limb segment phenotype", + "digit morphology phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "Abnormal musculoskeletal physiology", + "anatomical structure", + "subdivision of organism along appendicular axis", + "skeletal element", + "limb segment phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "skeletal joint phenotype", + "autopodial extension phenotype", + "anatomical entity morphology phenotype", + "manual digit morphology in the manus phenotype", + "organism subdivision", + "organ", + "multicellular organism", "digit", - "Abnormality of the hand", - "Abnormal skeletal morphology", - "abnormality of anatomical entity physiology", - "abnormal limb bone", - "Abnormality of limbs", + "manual digit plus metapodial segment", + "multi-limb segment region", + "bone element", + "musculature phenotype", + "manual digit phenotype", + "anatomical structure phenotype", "material anatomical entity", + "appendage phenotype", + "Joint hypermobility", + "endochondral element phenotype", + "multi-limb segment region phenotype", + "quality", + "Abnormality of limb bone", "pectoral complex", - "bone element", + "autopodial extension", + "Phenotypic abnormality", + "limb bone morphology phenotype", + "Small joint hypermobilty", + "limb endochondral element phenotype", + "musculoskeletal system phenotype", + "mesoderm-derived structure phenotype", + "subdivision of organism along appendicular axis phenotype", + "protein-containing material entity", + "system", "endochondral element", - "multi-limb segment region", - "paired limb/fin segment", "appendicular skeletal system", - "Abnormal finger morphology", - "Joint hypermobility", - "abnormal anatomical entity morphology", - "abnormal manual digit morphology in the manus", - "Abnormal digit morphology", - "continuant", - "Abnormality of the upper limb", - "Abnormality of hand joint mobility", - "articular system", - "skeleton", - "limb", - "pectoral appendage", - "abnormal manual digit morphology in the independent continuant", - "continuant", - "increased anatomical entity mobility", - "entity", - "lateral structure", + "paired limb/fin segment", "limb skeleton subdivision", "appendicular skeleton", - "skeletal joint", + "All", + "continuant", + "Abnormality of hand joint mobility", + "material anatomical entity physiology phenotype", + "organism subdivision phenotype", + "Abnormality of limbs", + "material entity", + "musculoskeletal system", + "anterior region of body", + "appendage", + "digit plus metapodial segment", + "phenotype", "Abnormal hand morphology", - "abnormal autopod region morphology", - "phenotype by ontology source", - "Small joint hypermobilty", - "appendage girdle complex", + "autopod region morphology phenotype", + "bone element phenotype", + "limb bone phenotype", + "multicellular anatomical structure phenotype", + "independent continuant", "subdivision of skeletal system", + "musculature of body", + "musculature", "subdivision of skeleton", - "abnormal anatomical entity", - "abnormality of musculoskeletal system physiology", - "abnormal limb morphology", - "system", - "protein-containing material entity", - "manual digit", - "bone of appendage girdle complex", - "endochondral bone", - "arm", - "phenotype", - "Phenotypic abnormality", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical system", - "mesoderm-derived structure", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "forelimb", - "abnormality of anatomical entity physiology", - "entity", - "segment of manus", - "digitopodium region", - "acropodium region", - "manus", - "abnormal phenotype by ontology source", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal anatomical entity mobility", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "anatomical entity", + "articulation", + "appendicular skeleton morphology phenotype", + "bone of appendage girdle complex phenotype", + "skeletal element phenotype", + "endochondral bone phenotype", + "skeletal system phenotype", + "bone of free limb or fin phenotype", + "musculoskeletal system physiology phenotype", + "limb morphology phenotype", + "organ phenotype", + "skeletal system morphology phenotype", + "Abnormal finger morphology", + "Abnormal limb bone morphology", + "anatomical entity phenotype", + "anatomical entity mobility phenotype", + "continuant", + "appendage girdle complex", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, "evidence_count": 6, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000269"], - "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], + "has_evidence": ["ECO:0006017"], + "has_evidence_links": [{"id": "ECO:0006017", "url": "http://purl.obolibrary.org/obo/ECO_0006017"}], "has_count": 7, "has_total": 7, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0006094", + "grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0006094", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", @@ -369,42 +429,48 @@ def association_table(): "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, "direction": "outgoing", }, { - "id": "uuid:22c98be5-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c0785533-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0958235", "original_subject": "OMIM:620727", @@ -412,56 +478,56 @@ def association_table(): "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0958235", - "MONDO:0100546", + "MONDO:0100545", + "MONDO:0002081", + "BFO:0000020", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000001", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0958235", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0000355", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001", ], "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "specifically dependent continuant", - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", - "entity", "hereditary skeletal muscle disorder", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "specifically dependent continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Ullrich congenital muscular dystrophy 1B", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", - "myopathy", - "congenital nervous system disorder", - "Ullrich congenital muscular dystrophy", - "hereditary disease", "disease", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "Ullrich congenital muscular dystrophy", + "entity", "continuant", - "disposition", - "muscle tissue disorder", + "human disease", + "skeletal muscle disorder", + "hereditary disease", + "Ullrich congenital muscular dystrophy 1B", + "congenital nervous system disorder", ], "subject_taxon": None, "subject_taxon_label": None, @@ -471,104 +537,122 @@ def association_table(): "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0082555", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0002320", - "UPHENO:0002816", - "BFO:0000002", - "UBERON:0011216", - "UPHENO:0075696", - "UPHENO:0082557", - "UPHENO:0001001", - "HP:0011804", + "UPHENO:0002976", + "UBERON:0001062", "HP:0033127", - "UBERON:0000468", - "HP:0000001", - "HP:0003011", - "PATO:0000001", - "HP:0003808", - "UPHENO:0001002", "BFO:0000001", - "BFO:0000040", - "UBERON:0001062", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", + "HP:0001252", + "UPHENO:0002530", + "UBERON:0000062", "HP:0000118", + "UPHENO:0082555", + "UPHENO:0002526", "UPHENO:0002536", - "BFO:0000004", - "UBERON:0010000", + "HP:0011804", + "UBERON:0000467", "UBERON:0001630", - "UBERON:0000465", - "UPHENO:0001005", - "BFO:0000020", "BFO:0000001", - "UPHENO:0002332", - "HP:0001252", - "UBERON:0000467", + "UBERON:0010000", + "UPHENO:0001001", + "BFO:0000020", + "UPHENO:0003047", + "HP:0003011", + "UPHENO:0082557", + "UPHENO:0002308", + "UPHENO:0002525", "UBERON:0005090", - "UPHENO:0082875", - "UBERON:0000061", + "UPHENO:0002359", + "UPHENO:0003022", + "UPHENO:0002568", + "BFO:0000002", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0002385", + "UBERON:0000465", + "UPHENO:0001003", + "BFO:0000004", + "UPHENO:0002320", + "UPHENO:0001002", + "PATO:0000001", + "HP:0003808", + "UPHENO:0002386", + "BFO:0000040", "UBERON:0000383", "UBERON:0001015", - "UBERON:0000062", + "UPHENO:0002267", + "UPHENO:0082875", ], "object_label": "Hypotonia", "object_closure_label": [ - "abnormal anatomical entity", - "decreased muscle organ tone", - "entity", - "decreased anatomical entity tone", - "abnormal musculature", - "quality", - "phenotype", - "Phenotypic abnormality", + "Abnormal muscle tone", + "organ physiology phenotype", "entity", + "anatomical system", + "muscle organ", + "Hypotonia", + "material anatomical entity phenotype", + "anatomical entity", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "multicellular organism", "organ system subdivision", - "Abnormal muscle tone", + "anatomical structure", "Abnormality of the musculoskeletal system", - "multicellular organism", - "All", - "specifically dependent continuant", - "continuant", - "organ", - "independent continuant", - "multicellular anatomical structure", + "organ system subdivision phenotype", "Abnormality of the musculature", - "anatomical structure", - "muscle organ", - "abnormality of muscle organ physiology", - "abnormality of anatomical entity physiology", - "Hypotonia", + "decreased muscle organ tone", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "anatomical entity physiology phenotype", + "organ", + "phenotype", + "musculature phenotype", + "anatomical structure phenotype", "material anatomical entity", + "quality", + "Phenotypic abnormality", "Abnormal muscle physiology", + "multicellular anatomical structure", + "specifically dependent continuant", + "taxon specific phenotype", + "entity", + "continuant", + "All", "continuant", - "phenotype by ontology source", + "material anatomical entity physiology phenotype", + "material entity", + "muscle structure phenotype", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "multicellular anatomical structure phenotype", + "independent continuant", "musculature of body", "musculature", - "abnormal anatomical entity", - "Phenotypic abnormality", - "anatomical system", - "muscle structure", - "abnormality of anatomical entity physiology", - "abnormal phenotype by ontology source", - "material entity", - "anatomical entity", + "decreased anatomical entity tone", + "organ phenotype", + "anatomical entity phenotype", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, "evidence_count": 6, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000269"], - "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], + "has_evidence": ["ECO:0006017"], + "has_evidence_links": [{"id": "ECO:0006017", "url": "http://purl.obolibrary.org/obo/ECO_0006017"}], "has_count": 5, "has_total": 5, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0001252", + "grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0001252", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", @@ -586,42 +670,48 @@ def association_table(): "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, "direction": "outgoing", }, { - "id": "uuid:22c98c06-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c0785554-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0958235", "original_subject": "OMIM:620727", @@ -629,56 +719,56 @@ def association_table(): "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0958235", + "MONDO:0100545", + "MONDO:0002081", + "BFO:0000020", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000001", + "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "BFO:0000002", "MONDO:0100546", - "OGMS:0000031", + "MONDO:0958235", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0000355", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001", ], "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "specifically dependent continuant", - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", - "entity", "hereditary skeletal muscle disorder", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "specifically dependent continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Ullrich congenital muscular dystrophy 1B", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", - "myopathy", - "congenital nervous system disorder", - "Ullrich congenital muscular dystrophy", - "hereditary disease", "disease", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "Ullrich congenital muscular dystrophy", + "entity", "continuant", - "disposition", - "muscle tissue disorder", + "human disease", + "skeletal muscle disorder", + "hereditary disease", + "Ullrich congenital muscular dystrophy 1B", + "congenital nervous system disorder", ], "subject_taxon": None, "subject_taxon_label": None, @@ -688,176 +778,168 @@ def association_table(): "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UBERON:0000465", - "RO:0002577", - "CL:0000187", - "UBERON:0014892", - "UBERON:0002036", - "BFO:0000002", - "UPHENO:0085135", - "HP:0011805", - "UPHENO:0002816", - "UPHENO:0076692", - "UPHENO:0077801", - "CL:0000228", - "CL:0008002", - "CL:0000393", - "HP:0003557", - "UPHENO:0075195", - "UPHENO:0086462", - "BFO:0000001", - "UBERON:0000061", - "UPHENO:0001001", - "UBERON:0004120", - "UPHENO:0084928", + "UPHENO:0079564", "HP:0025461", + "UPHENO:0002530", + "UPHENO:0086457", + "UPHENO:0002976", + "UBERON:0001062", + "HP:0025354", + "UPHENO:0081581", "HP:0033127", - "UPHENO:0001003", - "UBERON:0000468", "UBERON:0011216", - "HP:0000001", - "HP:0004303", - "HP:0003011", - "UPHENO:0085099", - "PATO:0000001", - "CL:0002372", - "CL:0000737", - "UBERON:0001134", - "UPHENO:0067691", - "UPHENO:0001002", - "UBERON:0001062", - "UPHENO:0080626", + "UBERON:0000062", + "UBERON:0000468", "HP:0000118", - "UPHENO:0002536", - "BFO:0000004", - "UPHENO:0015280", + "BFO:0000001", "BFO:0000002", - "HP:0012084", + "UBERON:0000061", "UBERON:0010000", + "UBERON:0000467", "CL:0002242", "CL:0000188", - "CL:0000211", "CL:0000183", "UBERON:0001630", "UBERON:0002385", - "BFO:0000001", - "GO:0005575", - "UPHENO:0001005", + "CL:0000211", + "UPHENO:0001001", "BFO:0000020", - "UPHENO:0086457", - "UPHENO:0020584", - "UPHENO:0085097", + "HP:0012084", + "CL:0002372", + "CL:0000737", + "UBERON:0001134", "UPHENO:0087047", - "UPHENO:0006889", - "UPHENO:0076710", - "BFO:0000040", - "UBERON:0000467", + "HP:0003011", + "UPHENO:0086462", + "UPHENO:0002525", "CL:0000000", "UBERON:0005090", "UBERON:0018254", - "UPHENO:0086172", - "HP:0025354", + "UBERON:0004120", + "UPHENO:0002568", + "HP:0000001", + "HP:0004303", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0077801", + "UPHENO:0079572", + "UBERON:0000465", + "UPHENO:0002536", + "BFO:0000004", + "CL:0000228", + "CL:0008002", + "CL:0000187", + "UBERON:0014892", + "UBERON:0002036", + "CL:0000393", + "UPHENO:0001002", + "UPHENO:0079562", + "HP:0003557", + "UPHENO:0075195", "UPHENO:0088180", + "HP:0011805", + "PATO:0000001", + "BFO:0000040", + "UBERON:0000479", "UBERON:0000383", "UBERON:0001015", - "UPHENO:0075696", - "UBERON:0000479", - "UBERON:0000062", + "UPHENO:0076710", + "UPHENO:0086172", + "UPHENO:0001003", + "BFO:0000001", + "RO:0002577", ], "object_label": "Increased variability in muscle fiber diameter", "object_closure_label": [ - "abnormal size of skeletal muscle fiber", - "anatomical structure", - "abnormal musculature", - "quality", - "phenotype", - "Phenotypic abnormality", - "material entity", - "multinucleate cell", - "skeletal muscle fiber", - "electrically responsive cell", - "abnormal morphology of cellular_component", - "Abnormal cell morphology", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "multicellular organism", - "organ system subdivision", - "All", - "Abnormal muscle fiber morphology", - "specifically dependent continuant", - "abnormal size of cell of skeletal muscle", - "abnormal anatomical entity morphology", - "tissue", - "organ", - "muscle cell", - "skeletal muscle organ, vertebrate", - "striated muscle tissue", - "abnormal anatomical entity", - "Abnormal cellular phenotype", - "abnormal cell of skeletal muscle morphology", + "cell of skeletal muscle morphology phenotype", "multicellular anatomical structure", - "Abnormality of the musculature", - "abnormal cell of skeletal muscle morphology", + "anatomical system", "nucleate cell", "cell of skeletal muscle", - "electrically active cell", "contractile cell", "muscle organ", "muscle tissue", - "abnormal myotube morphology", - "Abnormal skeletal muscle morphology", - "abnormal cellular_component", - "cellular_component", - "abnormal size of cellular_component", - "abnormal anatomical entity morphology", - "abnormal size of cell", - "continuant", - "mesoderm-derived structure", - "abnormal muscle cell morphology", - "continuant", - "Abnormality of skeletal muscle fiber size", + "electrically active cell", + "entity", + "anatomical entity", + "phenotypic effect", + "morphology of myotube phenotype", + "organ system subdivision", "myotube", "striated muscle cell", "skeletal muscle tissue", - "abnormal cell morphology", - "abnormal skeletal muscle tissue morphology", - "entity", - "musculature of body", - "musculature", - "abnormal anatomical entity", - "abnormal muscle organ morphology", - "material anatomical entity", - "system", - "Phenotypic abnormality", - "abnormal anatomical entity morphology in the independent continuant", - "independent continuant", - "anatomical system", + "morphology of cell of skeletal muscle phenotype", + "Abnormal cell morphology", + "multinucleate cell", + "skeletal muscle fiber", + "muscle cell", + "skeletal muscle organ, vertebrate", + "striated muscle tissue", + "electrically responsive cell", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormal skeletal muscle morphology", + "Abnormality of the musculature", + "size of skeletal muscle fiber phenotype", "cell", "muscle structure", "skeletal musculature", - "abnormal cell", - "entity", - "abnormal phenotype by ontology source", + "mesoderm-derived structure", + "taxon specific phenotype", + "anatomical structure", + "cell phenotype", + "Abnormal cellular phenotype", + "Abnormality of skeletal muscle fiber size", + "anatomical entity morphology phenotype", + "size of cell phenotype", + "quality", + "organ", + "multicellular organism", + "phenotype", + "musculature phenotype", + "anatomical structure phenotype", + "material anatomical entity", "Increased variability in muscle fiber diameter", - "abnormal size of anatomical entity", - "anatomical entity", + "size of anatomical entity phenotype", + "morphology of muscle cell phenotype", + "Phenotypic abnormality", + "material anatomical entity phenotype", + "size of cell of skeletal muscle phenotype", + "specifically dependent continuant", + "anatomical entity phenotype", + "system", + "All", + "Abnormal muscle fiber morphology", + "continuant", + "muscle organ morphology phenotype", + "material entity", + "skeletal muscle tissue morphology phenotype", + "multicellular anatomical structure phenotype", + "independent continuant", + "tissue", + "musculature of body", + "musculature", + "entity", + "continuant", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, "evidence_count": 4, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000269"], - "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], + "has_evidence": ["ECO:0006017"], + "has_evidence_links": [{"id": "ECO:0006017", "url": "http://purl.obolibrary.org/obo/ECO_0006017"}], "has_count": 4, "has_total": 4, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0003557", + "grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0003557", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", @@ -873,42 +955,48 @@ def association_table(): "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, "direction": "outgoing", }, { - "id": "uuid:22c98be7-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c0785535-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0958235", "original_subject": "OMIM:620727", @@ -916,56 +1004,56 @@ def association_table(): "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0958235", - "MONDO:0100546", + "MONDO:0100545", + "MONDO:0002081", + "BFO:0000020", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000001", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0958235", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0000355", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001", ], "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "specifically dependent continuant", - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", - "entity", "hereditary skeletal muscle disorder", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "specifically dependent continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Ullrich congenital muscular dystrophy 1B", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", - "myopathy", - "congenital nervous system disorder", - "Ullrich congenital muscular dystrophy", - "hereditary disease", "disease", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "Ullrich congenital muscular dystrophy", + "entity", "continuant", - "disposition", - "muscle tissue disorder", + "human disease", + "skeletal muscle disorder", + "hereditary disease", + "Ullrich congenital muscular dystrophy 1B", + "congenital nervous system disorder", ], "subject_taxon": None, "subject_taxon_label": None, @@ -975,90 +1063,96 @@ def association_table(): "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "BFO:0000002", - "UPHENO:0001003", - "HP:0012638", - "BFO:0000002", - "UBERON:0001016", - "UPHENO:0004523", - "BFO:0000001", - "UPHENO:0001001", - "HP:0012759", - "UBERON:0000468", - "HP:0000001", - "PATO:0000001", - "UPHENO:0001002", - "HP:0000707", "BFO:0000040", "UBERON:0001062", + "BFO:0000001", + "UBERON:0000061", + "UBERON:0000468", + "UPHENO:0002530", "HP:0001270", "HP:0000118", + "UPHENO:0002433", "UPHENO:0002536", - "BFO:0000001", - "BFO:0000004", + "HP:0012758", + "UBERON:0000467", "UBERON:0010000", - "UPHENO:0002433", - "UBERON:0000465", - "UPHENO:0001005", + "UPHENO:0001001", "BFO:0000020", - "UPHENO:0002332", - "UBERON:0000467", + "UPHENO:0002963", + "UPHENO:0004523", + "UPHENO:0002525", + "BFO:0000002", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002385", + "HP:0012638", + "UBERON:0000465", + "HP:0012759", + "UPHENO:0001003", + "BFO:0000001", + "UPHENO:0001002", + "UBERON:0001016", + "PATO:0000001", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", + "BFO:0000004", "UPHENO:0082875", - "UBERON:0000061", - "UPHENO:0075696", - "HP:0012758", ], "object_label": "Motor delay", "object_closure_label": [ - "abnormality of nervous system physiology", - "abnormal nervous system", + "nervous system physiology phenotype", + "entity", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "material entity", + "anatomical entity", + "phenotypic effect", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "multicellular organism", + "entity", + "anatomical structure", + "nervous system phenotype", + "Neurodevelopmental abnormality", + "anatomical entity physiology phenotype", + "anatomical system phenotype", "quality", "phenotype", + "anatomical structure phenotype", + "material anatomical entity", + "Motor delay", "Phenotypic abnormality", - "Abnormality of the nervous system", - "nervous system", - "multicellular organism", - "All", + "multicellular anatomical structure", "specifically dependent continuant", + "taxon specific phenotype", "continuant", - "abnormal anatomical entity", - "multicellular anatomical structure", - "Abnormal nervous system physiology", - "anatomical structure", - "abnormality of anatomical entity physiology", - "material anatomical entity", - "Motor delay", - "Neurodevelopmental abnormality", + "All", "continuant", - "entity", - "phenotype by ontology source", - "abnormal anatomical entity", - "Phenotypic abnormality", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "nervous system", "independent continuant", - "anatomical system", - "abnormality of anatomical entity physiology", - "entity", - "abnormal phenotype by ontology source", + "anatomical entity phenotype", "Neurodevelopmental delay", - "material entity", - "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, "evidence_count": 4, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000269"], - "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], + "has_evidence": ["ECO:0006017"], + "has_evidence_links": [{"id": "ECO:0006017", "url": "http://purl.obolibrary.org/obo/ECO_0006017"}], "has_count": 3, "has_total": 3, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0001270", + "grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0001270", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", @@ -1074,101 +1168,111 @@ def association_table(): "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, "direction": "outgoing", }, { - "id": "uuid:2360805d-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:bab4851b-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0958233", - "original_subject": "OMIM:620725", + "subject": "MONDO:0024530", + "original_subject": "OMIM:158810", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0100225", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0016106", "BFO:0000002", - "MONDO:0100546", + "MONDO:0024530", + "MONDO:0016139", + "BFO:0000001", + "BFO:0000020", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "MONDO:0008029", + "MONDO:0100546", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", - "MONDO:0008029", "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "BFO:0000001", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0016106", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0958233", ], - "subject_label": "Bethlem myopathy 1B", + "subject_label": "Bethlem myopathy 1A", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "progressive muscular dystrophy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "collagen 6-related myopathy", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Bethlem myopathy", - "specifically dependent continuant", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", + "disease", "continuant", - "myopathy", - "congenital nervous system disorder", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "specifically dependent continuant", "entity", - "progressive muscular dystrophy", + "human disease", + "Bethlem myopathy", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "Bethlem myopathy 1B", + "Bethlem myopathy 1A", + "qualitative or quantitative protein defects in neuromuscular diseases", + "congenital nervous system disorder", ], "subject_taxon": None, "subject_taxon_label": None, @@ -1178,150 +1282,174 @@ def association_table(): "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0002320", - "UPHENO:0002816", - "BFO:0000002", - "UPHENO:0075696", - "BFO:0000001", - "UBERON:0000061", - "HP:0011804", "HP:0001324", - "HP:0033127", - "UPHENO:0001003", - "UBERON:0000468", - "UBERON:0011216", - "HP:0000001", - "HP:0003011", - "PATO:0000001", - "UPHENO:0001005", - "UPHENO:0001002", - "UPHENO:0080556", - "BFO:0000001", + "UPHENO:0002976", "BFO:0000040", "UBERON:0001062", - "HP:0000118", - "UPHENO:0002536", + "HP:0033127", + "UBERON:0011216", "UPHENO:0001001", - "BFO:0000002", + "BFO:0000020", + "UPHENO:0002530", + "UBERON:0000062", + "UBERON:0000468", + "HP:0000118", + "UBERON:0000061", + "UPHENO:0002526", "UPHENO:0080555", - "BFO:0000004", - "UBERON:0010000", + "UPHENO:0002536", + "HP:0011804", + "UBERON:0000467", "UBERON:0001630", - "BFO:0000020", - "UBERON:0000465", + "UPHENO:0080556", + "BFO:0000001", + "UBERON:0010000", + "UPHENO:0003047", "HP:0003701", - "UPHENO:0002332", - "UBERON:0000467", + "HP:0003011", + "UPHENO:0002308", + "UPHENO:0002525", "UBERON:0005090", - "UPHENO:0082875", + "UPHENO:0002359", + "UPHENO:0003022", + "UPHENO:0002568", + "BFO:0000002", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0002385", + "UBERON:0000465", + "BFO:0000004", + "UPHENO:0002320", + "UPHENO:0001002", + "UPHENO:0002386", + "PATO:0000001", "UBERON:0000383", "UBERON:0001015", - "UBERON:0000062", + "UPHENO:0002267", + "UPHENO:0082875", + "UPHENO:0001003", + "BFO:0000001", ], "object_label": "Proximal muscle weakness", "object_closure_label": [ - "abnormal anatomical entity", + "decreased anatomical entity strength", + "organ physiology phenotype", + "anatomical system", + "muscle organ", + "material anatomical entity phenotype", + "entity", + "material entity", + "anatomical entity", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "organ system subdivision", + "Muscle weakness", "specifically dependent continuant", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormality of the musculature", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "taxon specific phenotype", "anatomical structure", - "abnormal musculature", + "anatomical entity physiology phenotype", "quality", + "organ", + "multicellular organism", + "musculature phenotype", + "anatomical structure phenotype", + "material anatomical entity", "Phenotypic abnormality", - "decreased muscle organ strength", + "Abnormal muscle physiology", + "multicellular anatomical structure", "entity", - "abnormal phenotype by ontology source", - "Muscle weakness", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "multicellular organism", - "organ system subdivision", + "continuant", "All", "continuant", - "organ", - "independent continuant", - "multicellular anatomical structure", - "Abnormality of the musculature", - "muscle organ", - "abnormality of muscle organ physiology", - "abnormality of anatomical entity physiology", - "material anatomical entity", - "Abnormal muscle physiology", + "material anatomical entity physiology phenotype", + "phenotype", + "muscle structure phenotype", "Proximal muscle weakness", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "multicellular anatomical structure phenotype", + "independent continuant", "musculature of body", "musculature", - "decreased anatomical entity strength", - "abnormal anatomical entity", - "phenotype", - "Phenotypic abnormality", - "anatomical system", - "muscle structure", - "abnormality of anatomical entity physiology", - "continuant", - "entity", - "material entity", - "anatomical entity", + "decreased muscle organ strength", + "organ phenotype", + "anatomical entity phenotype", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, "evidence_count": 3, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000269"], - "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "has_count": 11, - "has_total": 11, + "has_evidence": ["ECO:0006017"], + "has_evidence_links": [{"id": "ECO:0006017", "url": "http://purl.obolibrary.org/obo/ECO_0006017"}], + "has_count": 4, + "has_total": 4, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0958233||biolink:has_phenotype|HP:0003701", + "grouping_key": "MONDO:0024530|False|biolink:has_phenotype|HP:0003701", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:11865138", "PMID:17886299"], + "publications": ["PMID:30808312", "PMID:17886299"], "publications_links": [ - {"id": "PMID:11865138", "url": "http://identifiers.org/pubmed/11865138"}, + {"id": "PMID:30808312", "url": "http://identifiers.org/pubmed/30808312"}, {"id": "PMID:17886299", "url": "http://identifiers.org/pubmed/17886299"}, ], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, "direction": "outgoing", }, ], diff --git a/backend/tests/fixtures/association_table_response.py b/backend/tests/fixtures/association_table_response.py index c98ca9ec8..ec3c6100e 100644 --- a/backend/tests/fixtures/association_table_response.py +++ b/backend/tests/fixtures/association_table_response.py @@ -5,7 +5,7 @@ def association_table_response(): return { "responseHeader": { - "QTime": 1, + "QTime": 0, "params": { "mm": "100%", "q": "*:*", @@ -23,18 +23,18 @@ def association_table_response(): }, }, "response": { - "num_found": 4012, + "num_found": 4115, "start": 0, "docs": [ { - "id": "uuid:22c98bea-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c0785538-8b41-11ef-b621-6045bdbae67e", "original_subject": "OMIM:620727", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", + "primary_knowledge_source": "infores:omim", "publications": [ "PMID:16075202", "PMID:11381124", @@ -43,11 +43,12 @@ def association_table_response(): "PMID:20106987", ], "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], "has_count": 7, "has_percentage": 100.0, "has_quotient": 1.0, "has_total": 7, + "has_evidence": ["ECO:0006017"], + "negated": False, "subject": "MONDO:0958235", "object": "HP:0006094", "subject_label": "Ullrich congenital muscular dystrophy 1B", @@ -55,331 +56,391 @@ def association_table_response(): "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0958235", - "MONDO:0100546", + "MONDO:0100545", + "MONDO:0002081", + "BFO:0000020", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000001", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0958235", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0000355", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001", ], "subject_closure_label": [ - "specifically dependent continuant", - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", - "entity", "hereditary skeletal muscle disorder", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "specifically dependent continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Ullrich congenital muscular dystrophy 1B", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", - "myopathy", - "congenital nervous system disorder", - "Ullrich congenital muscular dystrophy", - "hereditary disease", "disease", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "Ullrich congenital muscular dystrophy", + "entity", "continuant", - "disposition", - "muscle tissue disorder", + "human disease", + "skeletal muscle disorder", + "hereditary disease", + "Ullrich congenital muscular dystrophy 1B", + "congenital nervous system disorder", ], "object_label": "Finger joint hypermobility", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0076703", - "HP:0040064", - "RO:0002577", - "PR:000050567", - "UBERON:0010707", - "UBERON:0004905", - "UBERON:0002428", - "UBERON:0004381", - "UBERON:0005451", - "UBERON:0012140", - "UBERON:0012354", - "UBERON:0002398", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0076944", - "UPHENO:0086700", - "UPHENO:0079876", - "HP:0011843", - "UBERON:5002544", - "UBERON:0005881", - "UBERON:0010758", - "UBERON:0004765", - "UBERON:0012141", - "HP:0001155", - "HP:0011842", - "UPHENO:0076692", - "UPHENO:0084761", - "HP:0011297", - "UBERON:0034921", - "UBERON:0001434", - "UPHENO:0076740", - "BFO:0000001", - "UBERON:0000061", - "UBERON:0000153", - "UBERON:0000026", - "HP:0002817", - "HP:0006256", - "UBERON:0004770", - "UBERON:0004288", - "UBERON:0002101", - "UBERON:0004710", + "UPHENO:0003015", "UPHENO:0076723", "UPHENO:0002905", "HP:0034430", "HP:0000924", + "UPHENO:0076727", + "UPHENO:0002976", + "UBERON:0002102", + "UBERON:0002389", + "UBERON:0001460", + "UBERON:0010740", + "UBERON:0002513", + "UBERON:0002529", + "UBERON:0003657", + "UPHENO:0081581", "HP:0033127", - "HP:0040068", - "UPHENO:0002880", - "UPHENO:0002830", - "UBERON:0000468", + "UBERON:0034925", "UBERON:0011216", - "HP:0000001", - "PATO:0000001", - "UBERON:0010708", + "UBERON:0034921", + "UPHENO:0001001", + "BFO:0000020", + "UPHENO:0002530", + "UPHENO:0081440", + "UPHENO:0086635", + "UBERON:0004708", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0000468", + "UBERON:0010363", + "UBERON:0011249", + "UBERON:0010538", "UBERON:0010712", "UBERON:0002091", - "UBERON:0000982", - "UPHENO:0086633", - "UPHENO:0077421", - "UPHENO:0001002", - "HP:0006094", - "UPHENO:0002964", - "UBERON:0001062", - "UBERON:0002529", - "UBERON:0003657", - "HP:0001167", + "UPHENO:0002861", "HP:0001382", "HP:0000118", - "UPHENO:0002536", - "BFO:0000001", - "UBERON:0015212", - "UBERON:0001474", - "UBERON:0010363", - "UBERON:0006058", - "UBERON:0010538", - "UBERON:0011249", - "UPHENO:0001001", - "UPHENO:0015280", - "BFO:0000002", "UPHENO:0077419", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0002204", - "UBERON:5002389", - "UBERON:0002544", - "HP:0011729", - "BFO:0000020", + "UPHENO:0002643", + "BFO:0000002", + "UBERON:0000061", + "UBERON:0010708", + "UBERON:0005881", + "UBERON:0002470", + "UBERON:0008785", + "UBERON:0012139", + "UBERON:0003839", + "UPHENO:0002526", + "UPHENO:0076703", + "HP:0001167", "UPHENO:0002708", + "UPHENO:0002945", + "UPHENO:0002782", + "UPHENO:0002536", + "UPHENO:0076943", "HP:0430046", - "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0084763", - "UPHENO:0076727", - "UPHENO:0020584", + "UPHENO:0002600", + "UPHENO:0005092", + "UPHENO:0002554", + "UBERON:0001062", + "UBERON:0010000", + "UBERON:0000467", "UBERON:0011582", "UBERON:0015061", "UBERON:0004375", - "UBERON:0002102", - "UPHENO:0084766", + "UPHENO:0003095", + "UPHENO:0002964", + "UPHENO:0002632", + "UBERON:0005451", + "UBERON:0012140", + "UBERON:0012354", + "UBERON:0002398", + "UBERON:0012141", + "UPHENO:0002963", + "UPHENO:0003066", + "UBERON:0000982", "HP:0005922", "UPHENO:0087006", - "UPHENO:0002332", + "UPHENO:0002525", + "UBERON:0004120", + "UBERON:0004288", + "UBERON:0004770", + "UBERON:0002101", + "UBERON:0004710", + "UBERON:0000153", + "UBERON:0000026", + "UBERON:5002544", + "HP:0011729", + "UPHENO:0002559", + "UPHENO:0002983", + "UPHENO:0002870", "UPHENO:0002896", - "UPHENO:0081440", - "UPHENO:0086635", + "UPHENO:0002568", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0004476", + "UPHENO:0002733", + "UPHENO:0076692", + "UPHENO:0084761", + "UPHENO:0002385", + "UPHENO:0002880", + "UPHENO:0002830", + "UPHENO:0076944", + "UBERON:0000465", + "UBERON:0010758", + "UBERON:0004765", + "UPHENO:0076740", + "UPHENO:0002593", + "HP:0002817", + "UPHENO:0003065", + "BFO:0000001", + "BFO:0000004", + "UBERON:0010707", + "UBERON:0004381", + "UBERON:0002428", + "UBERON:0001434", + "UPHENO:0001002", + "UPHENO:0003049", + "PATO:0000001", + "HP:0040068", + "UBERON:0015212", + "UBERON:0002204", + "UBERON:0002544", + "UBERON:5002389", + "UBERON:0006058", + "UBERON:0001474", + "UPHENO:0086633", + "UPHENO:0077421", + "UPHENO:0084763", + "UPHENO:0003005", + "UPHENO:0084448", + "HP:0011844", + "UPHENO:0086700", + "UPHENO:0079876", + "HP:0011843", + "HP:0001155", + "HP:0011842", + "HP:0006094", "BFO:0000040", - "UBERON:0000467", - "UBERON:0004120", - "UBERON:0002389", - "UBERON:0010740", - "UBERON:0002513", - "UBERON:0001460", - "UPHENO:0082875", - "HP:0002813", - "UBERON:0034925", - "UBERON:0004708", "UBERON:0000075", + "UBERON:0000383", + "UBERON:0001015", "UBERON:0010912", - "UPHENO:0075696", - "UPHENO:0076943", - "UPHENO:0084448", - "HP:0011844", - "UBERON:0000475", - "UBERON:0000062", - "UBERON:0002470", - "UBERON:0008785", - "UBERON:0012139", - "UBERON:0003839", + "UBERON:0004905", + "UPHENO:0002269", + "HP:0006256", + "UPHENO:0002267", + "UPHENO:0002926", + "HP:0040064", + "UPHENO:0002944", + "UPHENO:0082875", + "HP:0002813", + "UPHENO:0001003", + "HP:0011297", + "UPHENO:0002586", + "BFO:0000001", + "PR:000050567", + "RO:0002577", ], "object_closure_label": [ - "abnormal appendicular skeleton morphology", + "forelimb morphology phenotype", + "increased skeletal joint mobility", + "anatomical entity morphology in the appendage girdle complex phenotype", + "manus phenotype", + "paired limb/fin phenotype", + "autopod region phenotype", + "anatomical entity morphology in the manus phenotype", + "Abnormal appendicular skeleton morphology", + "multicellular anatomical structure", + "anatomical system", + "paired limb/fin skeleton", + "limb endochondral element", + "bone of free limb or fin", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "entity", + "lateral structure", + "forelimb", + "manual digit", + "arm", + "bone of appendage girdle complex", + "endochondral bone", + "limb segment", + "limb joint", + "phenotypic effect", + "anatomical structure physiology phenotype", + "arm phenotype", + "limb phenotype", + "skeletal joint mobility phenotype", + "paired limb/fin", + "organ system subdivision", + "multi organ part structure", + "skeletal joint", + "articulation phenotype", + "manus morphology phenotype", + "digit phenotype", + "Abnormal joint physiology", + "Abnormality of the skeletal system", + "increased anatomical entity mobility", + "multi organ part structure phenotype", + "paired limb/fin segment phenotype", + "entity", + "anatomical collection", + "skeleton of limb", + "limb bone", + "skeletal system", + "segment of manus", + "digitopodium region", + "acropodium region", + "manus", + "manual digitopodium region", "specifically dependent continuant", - "abnormal manus", - "anatomical structure", - "digit plus metapodial segment", - "autopodial extension", - "subdivision of organism along appendicular axis", - "skeletal element", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormality of the hand", + "Abnormal skeletal morphology", + "Finger joint hypermobility", + "anatomical entity", + "mesoderm-derived structure", + "skeleton", + "articular system", + "limb", + "pectoral appendage", "autopod region", "upper limb segment", "segment of autopod", "forelimb joint", - "abnormal skeletal system morphology", - "quality", - "anterior region of body", - "appendage", - "manual digitopodium region", - "Phenotypic abnormality", - "Finger joint hypermobility", - "abnormal skeletal system", - "material entity", - "multi organ part structure", - "skeletal system", - "abnormal forelimb morphology", - "increased skeletal joint mobility", - "abnormal manus morphology", - "abnormal digit", - "Abnormal joint physiology", - "Abnormality of the skeletal system", - "Abnormality of the musculoskeletal system", - "Abnormality of limb bone", - "abnormal arm", - "abnormal limb", - "multicellular organism", - "organ system subdivision", - "All", - "abnormal limb bone morphology", - "abnormal anatomical entity morphology", - "organism subdivision", - "organ", - "articulation", - "limb bone", - "skeleton of limb", - "abnormal anatomical entity", - "Abnormality of limb bone morphology", - "independent continuant", - "multicellular anatomical structure", - "limb segment", - "limb joint", "Abnormality of joint mobility", - "abnormal skeletal joint mobility", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal musculoskeletal physiology", - "anatomical collection", - "paired limb/fin", - "musculoskeletal system", - "manual digit plus metapodial segment", + "Abnormality of the upper limb", + "taxon specific phenotype", + "Abnormal digit morphology", + "upper limb segment phenotype", + "digit morphology phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "Abnormal musculoskeletal physiology", + "anatomical structure", + "subdivision of organism along appendicular axis", + "skeletal element", + "limb segment phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "skeletal joint phenotype", + "autopodial extension phenotype", + "anatomical entity morphology phenotype", + "manual digit morphology in the manus phenotype", + "organism subdivision", + "organ", + "multicellular organism", "digit", - "Abnormality of the hand", - "Abnormal skeletal morphology", - "abnormality of anatomical entity physiology", - "abnormal limb bone", - "Abnormality of limbs", + "manual digit plus metapodial segment", + "multi-limb segment region", + "bone element", + "musculature phenotype", + "manual digit phenotype", + "anatomical structure phenotype", "material anatomical entity", + "appendage phenotype", + "Joint hypermobility", + "endochondral element phenotype", + "multi-limb segment region phenotype", + "quality", + "Abnormality of limb bone", "pectoral complex", - "bone element", + "autopodial extension", + "Phenotypic abnormality", + "limb bone morphology phenotype", + "Small joint hypermobilty", + "limb endochondral element phenotype", + "musculoskeletal system phenotype", + "mesoderm-derived structure phenotype", + "subdivision of organism along appendicular axis phenotype", + "protein-containing material entity", + "system", "endochondral element", - "multi-limb segment region", - "paired limb/fin segment", "appendicular skeletal system", - "Abnormal finger morphology", - "Joint hypermobility", - "abnormal anatomical entity morphology", - "abnormal manual digit morphology in the manus", - "Abnormal digit morphology", - "continuant", - "Abnormality of the upper limb", - "Abnormality of hand joint mobility", - "articular system", - "skeleton", - "limb", - "pectoral appendage", - "abnormal manual digit morphology in the independent continuant", - "continuant", - "increased anatomical entity mobility", - "entity", - "lateral structure", + "paired limb/fin segment", "limb skeleton subdivision", "appendicular skeleton", - "skeletal joint", + "All", + "continuant", + "Abnormality of hand joint mobility", + "material anatomical entity physiology phenotype", + "organism subdivision phenotype", + "Abnormality of limbs", + "material entity", + "musculoskeletal system", + "anterior region of body", + "appendage", + "digit plus metapodial segment", + "phenotype", "Abnormal hand morphology", - "abnormal autopod region morphology", - "phenotype by ontology source", - "Small joint hypermobilty", - "appendage girdle complex", + "autopod region morphology phenotype", + "bone element phenotype", + "limb bone phenotype", + "multicellular anatomical structure phenotype", + "independent continuant", "subdivision of skeletal system", + "musculature of body", + "musculature", "subdivision of skeleton", - "abnormal anatomical entity", - "abnormality of musculoskeletal system physiology", - "abnormal limb morphology", - "system", - "protein-containing material entity", - "manual digit", - "bone of appendage girdle complex", - "endochondral bone", - "arm", - "phenotype", - "Phenotypic abnormality", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical system", - "mesoderm-derived structure", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "forelimb", - "abnormality of anatomical entity physiology", - "entity", - "segment of manus", - "digitopodium region", - "acropodium region", - "manus", - "abnormal phenotype by ontology source", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal anatomical entity mobility", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "anatomical entity", + "articulation", + "appendicular skeleton morphology phenotype", + "bone of appendage girdle complex phenotype", + "skeletal element phenotype", + "endochondral bone phenotype", + "skeletal system phenotype", + "bone of free limb or fin phenotype", + "musculoskeletal system physiology phenotype", + "limb morphology phenotype", + "organ phenotype", + "skeletal system morphology phenotype", + "Abnormal finger morphology", + "Abnormal limb bone morphology", + "anatomical entity phenotype", + "anatomical entity mobility phenotype", + "continuant", + "appendage girdle complex", ], "evidence_count": 6, - "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0006094", + "grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0006094", }, { - "id": "uuid:22c98be5-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c0785533-8b41-11ef-b621-6045bdbae67e", "original_subject": "OMIM:620727", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", + "primary_knowledge_source": "infores:omim", "publications": [ "PMID:16075202", "PMID:11381124", @@ -388,11 +449,12 @@ def association_table_response(): "PMID:20106987", ], "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], "has_count": 5, "has_percentage": 100.0, "has_quotient": 1.0, "has_total": 5, + "has_evidence": ["ECO:0006017"], + "negated": False, "subject": "MONDO:0958235", "object": "HP:0001252", "subject_label": "Ullrich congenital muscular dystrophy 1B", @@ -400,160 +462,179 @@ def association_table_response(): "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0958235", - "MONDO:0100546", + "MONDO:0100545", + "MONDO:0002081", + "BFO:0000020", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000001", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0958235", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0000355", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001", ], "subject_closure_label": [ - "specifically dependent continuant", - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", - "entity", "hereditary skeletal muscle disorder", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "specifically dependent continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Ullrich congenital muscular dystrophy 1B", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", - "myopathy", - "congenital nervous system disorder", - "Ullrich congenital muscular dystrophy", - "hereditary disease", "disease", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "Ullrich congenital muscular dystrophy", + "entity", "continuant", - "disposition", - "muscle tissue disorder", + "human disease", + "skeletal muscle disorder", + "hereditary disease", + "Ullrich congenital muscular dystrophy 1B", + "congenital nervous system disorder", ], "object_label": "Hypotonia", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0082555", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0002320", - "UPHENO:0002816", - "BFO:0000002", - "UBERON:0011216", - "UPHENO:0075696", - "UPHENO:0082557", - "UPHENO:0001001", - "HP:0011804", + "UPHENO:0002976", + "UBERON:0001062", "HP:0033127", - "UBERON:0000468", - "HP:0000001", - "HP:0003011", - "PATO:0000001", - "HP:0003808", - "UPHENO:0001002", "BFO:0000001", - "BFO:0000040", - "UBERON:0001062", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", + "HP:0001252", + "UPHENO:0002530", + "UBERON:0000062", "HP:0000118", + "UPHENO:0082555", + "UPHENO:0002526", "UPHENO:0002536", - "BFO:0000004", - "UBERON:0010000", + "HP:0011804", + "UBERON:0000467", "UBERON:0001630", - "UBERON:0000465", - "UPHENO:0001005", - "BFO:0000020", "BFO:0000001", - "UPHENO:0002332", - "HP:0001252", - "UBERON:0000467", + "UBERON:0010000", + "UPHENO:0001001", + "BFO:0000020", + "UPHENO:0003047", + "HP:0003011", + "UPHENO:0082557", + "UPHENO:0002308", + "UPHENO:0002525", "UBERON:0005090", - "UPHENO:0082875", - "UBERON:0000061", + "UPHENO:0002359", + "UPHENO:0003022", + "UPHENO:0002568", + "BFO:0000002", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0002385", + "UBERON:0000465", + "UPHENO:0001003", + "BFO:0000004", + "UPHENO:0002320", + "UPHENO:0001002", + "PATO:0000001", + "HP:0003808", + "UPHENO:0002386", + "BFO:0000040", "UBERON:0000383", "UBERON:0001015", - "UBERON:0000062", + "UPHENO:0002267", + "UPHENO:0082875", ], "object_closure_label": [ - "abnormal anatomical entity", - "decreased muscle organ tone", - "entity", - "decreased anatomical entity tone", - "abnormal musculature", - "quality", - "phenotype", - "Phenotypic abnormality", + "Abnormal muscle tone", + "organ physiology phenotype", "entity", + "anatomical system", + "muscle organ", + "Hypotonia", + "material anatomical entity phenotype", + "anatomical entity", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "multicellular organism", "organ system subdivision", - "Abnormal muscle tone", + "anatomical structure", "Abnormality of the musculoskeletal system", - "multicellular organism", - "All", - "specifically dependent continuant", - "continuant", - "organ", - "independent continuant", - "multicellular anatomical structure", + "organ system subdivision phenotype", "Abnormality of the musculature", - "anatomical structure", - "muscle organ", - "abnormality of muscle organ physiology", - "abnormality of anatomical entity physiology", - "Hypotonia", + "decreased muscle organ tone", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "anatomical entity physiology phenotype", + "organ", + "phenotype", + "musculature phenotype", + "anatomical structure phenotype", "material anatomical entity", + "quality", + "Phenotypic abnormality", "Abnormal muscle physiology", + "multicellular anatomical structure", + "specifically dependent continuant", + "taxon specific phenotype", + "entity", + "continuant", + "All", "continuant", - "phenotype by ontology source", + "material anatomical entity physiology phenotype", + "material entity", + "muscle structure phenotype", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "multicellular anatomical structure phenotype", + "independent continuant", "musculature of body", "musculature", - "abnormal anatomical entity", - "Phenotypic abnormality", - "anatomical system", - "muscle structure", - "abnormality of anatomical entity physiology", - "abnormal phenotype by ontology source", - "material entity", - "anatomical entity", + "decreased anatomical entity tone", + "organ phenotype", + "anatomical entity phenotype", ], "evidence_count": 6, - "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0001252", + "grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0001252", }, { - "id": "uuid:22c98c06-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c0785554-8b41-11ef-b621-6045bdbae67e", "original_subject": "OMIM:620727", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", + "primary_knowledge_source": "infores:omim", "publications": ["PMID:16075202", "PMID:11381124", "PMID:20106987"], "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], "has_count": 4, "has_percentage": 100.0, "has_quotient": 1.0, "has_total": 4, + "has_evidence": ["ECO:0006017"], + "negated": False, "subject": "MONDO:0958235", "object": "HP:0003557", "subject_label": "Ullrich congenital muscular dystrophy 1B", @@ -561,232 +642,225 @@ def association_table_response(): "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0958235", + "MONDO:0100545", + "MONDO:0002081", + "BFO:0000020", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000001", + "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "BFO:0000002", "MONDO:0100546", - "OGMS:0000031", + "MONDO:0958235", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0000355", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001", ], "subject_closure_label": [ - "specifically dependent continuant", - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", - "entity", "hereditary skeletal muscle disorder", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "specifically dependent continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Ullrich congenital muscular dystrophy 1B", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", - "myopathy", - "congenital nervous system disorder", - "Ullrich congenital muscular dystrophy", - "hereditary disease", "disease", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "Ullrich congenital muscular dystrophy", + "entity", "continuant", - "disposition", - "muscle tissue disorder", + "human disease", + "skeletal muscle disorder", + "hereditary disease", + "Ullrich congenital muscular dystrophy 1B", + "congenital nervous system disorder", ], "object_label": "Increased variability in muscle fiber diameter", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UBERON:0000465", - "RO:0002577", - "CL:0000187", - "UBERON:0014892", - "UBERON:0002036", - "BFO:0000002", - "UPHENO:0085135", - "HP:0011805", - "UPHENO:0002816", - "UPHENO:0076692", - "UPHENO:0077801", - "CL:0000228", - "CL:0008002", - "CL:0000393", - "HP:0003557", - "UPHENO:0075195", - "UPHENO:0086462", - "BFO:0000001", - "UBERON:0000061", - "UPHENO:0001001", - "UBERON:0004120", - "UPHENO:0084928", + "UPHENO:0079564", "HP:0025461", + "UPHENO:0002530", + "UPHENO:0086457", + "UPHENO:0002976", + "UBERON:0001062", + "HP:0025354", + "UPHENO:0081581", "HP:0033127", - "UPHENO:0001003", - "UBERON:0000468", "UBERON:0011216", - "HP:0000001", - "HP:0004303", - "HP:0003011", - "UPHENO:0085099", - "PATO:0000001", - "CL:0002372", - "CL:0000737", - "UBERON:0001134", - "UPHENO:0067691", - "UPHENO:0001002", - "UBERON:0001062", - "UPHENO:0080626", + "UBERON:0000062", + "UBERON:0000468", "HP:0000118", - "UPHENO:0002536", - "BFO:0000004", - "UPHENO:0015280", + "BFO:0000001", "BFO:0000002", - "HP:0012084", + "UBERON:0000061", "UBERON:0010000", + "UBERON:0000467", "CL:0002242", "CL:0000188", - "CL:0000211", "CL:0000183", "UBERON:0001630", "UBERON:0002385", - "BFO:0000001", - "GO:0005575", - "UPHENO:0001005", + "CL:0000211", + "UPHENO:0001001", "BFO:0000020", - "UPHENO:0086457", - "UPHENO:0020584", - "UPHENO:0085097", + "HP:0012084", + "CL:0002372", + "CL:0000737", + "UBERON:0001134", "UPHENO:0087047", - "UPHENO:0006889", - "UPHENO:0076710", - "BFO:0000040", - "UBERON:0000467", + "HP:0003011", + "UPHENO:0086462", + "UPHENO:0002525", "CL:0000000", "UBERON:0005090", "UBERON:0018254", - "UPHENO:0086172", - "HP:0025354", + "UBERON:0004120", + "UPHENO:0002568", + "HP:0000001", + "HP:0004303", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0077801", + "UPHENO:0079572", + "UBERON:0000465", + "UPHENO:0002536", + "BFO:0000004", + "CL:0000228", + "CL:0008002", + "CL:0000187", + "UBERON:0014892", + "UBERON:0002036", + "CL:0000393", + "UPHENO:0001002", + "UPHENO:0079562", + "HP:0003557", + "UPHENO:0075195", "UPHENO:0088180", + "HP:0011805", + "PATO:0000001", + "BFO:0000040", + "UBERON:0000479", "UBERON:0000383", "UBERON:0001015", - "UPHENO:0075696", - "UBERON:0000479", - "UBERON:0000062", + "UPHENO:0076710", + "UPHENO:0086172", + "UPHENO:0001003", + "BFO:0000001", + "RO:0002577", ], "object_closure_label": [ - "abnormal size of skeletal muscle fiber", - "anatomical structure", - "abnormal musculature", - "quality", - "phenotype", - "Phenotypic abnormality", - "material entity", - "multinucleate cell", - "skeletal muscle fiber", - "electrically responsive cell", - "abnormal morphology of cellular_component", - "Abnormal cell morphology", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "multicellular organism", - "organ system subdivision", - "All", - "Abnormal muscle fiber morphology", - "specifically dependent continuant", - "abnormal size of cell of skeletal muscle", - "abnormal anatomical entity morphology", - "tissue", - "organ", - "muscle cell", - "skeletal muscle organ, vertebrate", - "striated muscle tissue", - "abnormal anatomical entity", - "Abnormal cellular phenotype", - "abnormal cell of skeletal muscle morphology", + "cell of skeletal muscle morphology phenotype", "multicellular anatomical structure", - "Abnormality of the musculature", - "abnormal cell of skeletal muscle morphology", + "anatomical system", "nucleate cell", "cell of skeletal muscle", - "electrically active cell", "contractile cell", "muscle organ", "muscle tissue", - "abnormal myotube morphology", - "Abnormal skeletal muscle morphology", - "abnormal cellular_component", - "cellular_component", - "abnormal size of cellular_component", - "abnormal anatomical entity morphology", - "abnormal size of cell", - "continuant", - "mesoderm-derived structure", - "abnormal muscle cell morphology", - "continuant", - "Abnormality of skeletal muscle fiber size", + "electrically active cell", + "entity", + "anatomical entity", + "phenotypic effect", + "morphology of myotube phenotype", + "organ system subdivision", "myotube", "striated muscle cell", "skeletal muscle tissue", - "abnormal cell morphology", - "abnormal skeletal muscle tissue morphology", - "entity", - "musculature of body", - "musculature", - "abnormal anatomical entity", - "abnormal muscle organ morphology", - "material anatomical entity", - "system", - "Phenotypic abnormality", - "abnormal anatomical entity morphology in the independent continuant", - "independent continuant", - "anatomical system", + "morphology of cell of skeletal muscle phenotype", + "Abnormal cell morphology", + "multinucleate cell", + "skeletal muscle fiber", + "muscle cell", + "skeletal muscle organ, vertebrate", + "striated muscle tissue", + "electrically responsive cell", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormal skeletal muscle morphology", + "Abnormality of the musculature", + "size of skeletal muscle fiber phenotype", "cell", "muscle structure", "skeletal musculature", - "abnormal cell", - "entity", - "abnormal phenotype by ontology source", + "mesoderm-derived structure", + "taxon specific phenotype", + "anatomical structure", + "cell phenotype", + "Abnormal cellular phenotype", + "Abnormality of skeletal muscle fiber size", + "anatomical entity morphology phenotype", + "size of cell phenotype", + "quality", + "organ", + "multicellular organism", + "phenotype", + "musculature phenotype", + "anatomical structure phenotype", + "material anatomical entity", "Increased variability in muscle fiber diameter", - "abnormal size of anatomical entity", - "anatomical entity", + "size of anatomical entity phenotype", + "morphology of muscle cell phenotype", + "Phenotypic abnormality", + "material anatomical entity phenotype", + "size of cell of skeletal muscle phenotype", + "specifically dependent continuant", + "anatomical entity phenotype", + "system", + "All", + "Abnormal muscle fiber morphology", + "continuant", + "muscle organ morphology phenotype", + "material entity", + "skeletal muscle tissue morphology phenotype", + "multicellular anatomical structure phenotype", + "independent continuant", + "tissue", + "musculature of body", + "musculature", + "entity", + "continuant", ], "evidence_count": 4, - "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0003557", + "grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0003557", }, { - "id": "uuid:22c98be7-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c0785535-8b41-11ef-b621-6045bdbae67e", "original_subject": "OMIM:620727", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", + "primary_knowledge_source": "infores:omim", "publications": ["PMID:16075202", "PMID:11506412", "PMID:20729548"], "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], "has_count": 3, "has_percentage": 100.0, "has_quotient": 1.0, "has_total": 3, + "has_evidence": ["ECO:0006017"], + "negated": False, "subject": "MONDO:0958235", "object": "HP:0001270", "subject_label": "Ullrich congenital muscular dystrophy 1B", @@ -794,292 +868,321 @@ def association_table_response(): "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0958235", - "MONDO:0100546", + "MONDO:0100545", + "MONDO:0002081", + "BFO:0000020", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000001", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0958235", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0000355", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001", ], "subject_closure_label": [ - "specifically dependent continuant", - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", - "entity", "hereditary skeletal muscle disorder", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "specifically dependent continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Ullrich congenital muscular dystrophy 1B", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", - "myopathy", - "congenital nervous system disorder", - "Ullrich congenital muscular dystrophy", - "hereditary disease", "disease", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "Ullrich congenital muscular dystrophy", + "entity", "continuant", - "disposition", - "muscle tissue disorder", + "human disease", + "skeletal muscle disorder", + "hereditary disease", + "Ullrich congenital muscular dystrophy 1B", + "congenital nervous system disorder", ], "object_label": "Motor delay", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "BFO:0000002", - "UPHENO:0001003", - "HP:0012638", - "BFO:0000002", - "UBERON:0001016", - "UPHENO:0004523", - "BFO:0000001", - "UPHENO:0001001", - "HP:0012759", - "UBERON:0000468", - "HP:0000001", - "PATO:0000001", - "UPHENO:0001002", - "HP:0000707", "BFO:0000040", "UBERON:0001062", + "BFO:0000001", + "UBERON:0000061", + "UBERON:0000468", + "UPHENO:0002530", "HP:0001270", "HP:0000118", + "UPHENO:0002433", "UPHENO:0002536", - "BFO:0000001", - "BFO:0000004", + "HP:0012758", + "UBERON:0000467", "UBERON:0010000", - "UPHENO:0002433", - "UBERON:0000465", - "UPHENO:0001005", + "UPHENO:0001001", "BFO:0000020", - "UPHENO:0002332", - "UBERON:0000467", + "UPHENO:0002963", + "UPHENO:0004523", + "UPHENO:0002525", + "BFO:0000002", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002385", + "HP:0012638", + "UBERON:0000465", + "HP:0012759", + "UPHENO:0001003", + "BFO:0000001", + "UPHENO:0001002", + "UBERON:0001016", + "PATO:0000001", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", + "BFO:0000004", "UPHENO:0082875", - "UBERON:0000061", - "UPHENO:0075696", - "HP:0012758", ], "object_closure_label": [ - "abnormality of nervous system physiology", - "abnormal nervous system", + "nervous system physiology phenotype", + "entity", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "material entity", + "anatomical entity", + "phenotypic effect", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "multicellular organism", + "entity", + "anatomical structure", + "nervous system phenotype", + "Neurodevelopmental abnormality", + "anatomical entity physiology phenotype", + "anatomical system phenotype", "quality", "phenotype", + "anatomical structure phenotype", + "material anatomical entity", + "Motor delay", "Phenotypic abnormality", - "Abnormality of the nervous system", - "nervous system", - "multicellular organism", - "All", + "multicellular anatomical structure", "specifically dependent continuant", + "taxon specific phenotype", "continuant", - "abnormal anatomical entity", - "multicellular anatomical structure", - "Abnormal nervous system physiology", - "anatomical structure", - "abnormality of anatomical entity physiology", - "material anatomical entity", - "Motor delay", - "Neurodevelopmental abnormality", + "All", "continuant", - "entity", - "phenotype by ontology source", - "abnormal anatomical entity", - "Phenotypic abnormality", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "nervous system", "independent continuant", - "anatomical system", - "abnormality of anatomical entity physiology", - "entity", - "abnormal phenotype by ontology source", + "anatomical entity phenotype", "Neurodevelopmental delay", - "material entity", - "anatomical entity", ], "evidence_count": 4, - "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0001270", + "grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0001270", }, { - "id": "uuid:2360805d-400a-11ef-89e7-6fe0be41fbbf", - "original_subject": "OMIM:620725", + "id": "uuid:bab4851b-8b41-11ef-b621-6045bdbae67e", + "original_subject": "OMIM:158810", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:11865138", "PMID:17886299"], + "primary_knowledge_source": "infores:omim", + "publications": ["PMID:30808312", "PMID:17886299"], "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 11, + "has_count": 4, "has_percentage": 100.0, "has_quotient": 1.0, - "has_total": 11, - "subject": "MONDO:0958233", + "has_total": 4, + "has_evidence": ["ECO:0006017"], + "negated": False, + "subject": "MONDO:0024530", "object": "HP:0003701", - "subject_label": "Bethlem myopathy 1B", + "subject_label": "Bethlem myopathy 1A", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0100225", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0016106", "BFO:0000002", - "MONDO:0100546", + "MONDO:0024530", + "MONDO:0016139", + "BFO:0000001", + "BFO:0000020", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "MONDO:0008029", + "MONDO:0100546", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", - "MONDO:0008029", "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "BFO:0000001", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0016106", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0958233", ], "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "progressive muscular dystrophy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "collagen 6-related myopathy", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Bethlem myopathy", - "specifically dependent continuant", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", + "disease", "continuant", - "myopathy", - "congenital nervous system disorder", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "specifically dependent continuant", "entity", - "progressive muscular dystrophy", + "human disease", + "Bethlem myopathy", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "Bethlem myopathy 1B", + "Bethlem myopathy 1A", + "qualitative or quantitative protein defects in neuromuscular diseases", + "congenital nervous system disorder", ], "object_label": "Proximal muscle weakness", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0002320", - "UPHENO:0002816", - "BFO:0000002", - "UPHENO:0075696", - "BFO:0000001", - "UBERON:0000061", - "HP:0011804", "HP:0001324", - "HP:0033127", - "UPHENO:0001003", - "UBERON:0000468", - "UBERON:0011216", - "HP:0000001", - "HP:0003011", - "PATO:0000001", - "UPHENO:0001005", - "UPHENO:0001002", - "UPHENO:0080556", - "BFO:0000001", + "UPHENO:0002976", "BFO:0000040", "UBERON:0001062", - "HP:0000118", - "UPHENO:0002536", + "HP:0033127", + "UBERON:0011216", "UPHENO:0001001", - "BFO:0000002", + "BFO:0000020", + "UPHENO:0002530", + "UBERON:0000062", + "UBERON:0000468", + "HP:0000118", + "UBERON:0000061", + "UPHENO:0002526", "UPHENO:0080555", - "BFO:0000004", - "UBERON:0010000", + "UPHENO:0002536", + "HP:0011804", + "UBERON:0000467", "UBERON:0001630", - "BFO:0000020", - "UBERON:0000465", + "UPHENO:0080556", + "BFO:0000001", + "UBERON:0010000", + "UPHENO:0003047", "HP:0003701", - "UPHENO:0002332", - "UBERON:0000467", + "HP:0003011", + "UPHENO:0002308", + "UPHENO:0002525", "UBERON:0005090", - "UPHENO:0082875", + "UPHENO:0002359", + "UPHENO:0003022", + "UPHENO:0002568", + "BFO:0000002", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0002385", + "UBERON:0000465", + "BFO:0000004", + "UPHENO:0002320", + "UPHENO:0001002", + "UPHENO:0002386", + "PATO:0000001", "UBERON:0000383", "UBERON:0001015", - "UBERON:0000062", + "UPHENO:0002267", + "UPHENO:0082875", + "UPHENO:0001003", + "BFO:0000001", ], "object_closure_label": [ - "abnormal anatomical entity", + "decreased anatomical entity strength", + "organ physiology phenotype", + "anatomical system", + "muscle organ", + "material anatomical entity phenotype", + "entity", + "material entity", + "anatomical entity", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "organ system subdivision", + "Muscle weakness", "specifically dependent continuant", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormality of the musculature", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "taxon specific phenotype", "anatomical structure", - "abnormal musculature", + "anatomical entity physiology phenotype", "quality", + "organ", + "multicellular organism", + "musculature phenotype", + "anatomical structure phenotype", + "material anatomical entity", "Phenotypic abnormality", - "decreased muscle organ strength", + "Abnormal muscle physiology", + "multicellular anatomical structure", "entity", - "abnormal phenotype by ontology source", - "Muscle weakness", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "multicellular organism", - "organ system subdivision", + "continuant", "All", "continuant", - "organ", - "independent continuant", - "multicellular anatomical structure", - "Abnormality of the musculature", - "muscle organ", - "abnormality of muscle organ physiology", - "abnormality of anatomical entity physiology", - "material anatomical entity", - "Abnormal muscle physiology", + "material anatomical entity physiology phenotype", + "phenotype", + "muscle structure phenotype", "Proximal muscle weakness", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "multicellular anatomical structure phenotype", + "independent continuant", "musculature of body", "musculature", - "decreased anatomical entity strength", - "abnormal anatomical entity", - "phenotype", - "Phenotypic abnormality", - "anatomical system", - "muscle structure", - "abnormality of anatomical entity physiology", - "continuant", - "entity", - "material entity", - "anatomical entity", + "decreased muscle organ strength", + "organ phenotype", + "anatomical entity phenotype", ], "evidence_count": 3, - "grouping_key": "MONDO:0958233||biolink:has_phenotype|HP:0003701", + "grouping_key": "MONDO:0024530|False|biolink:has_phenotype|HP:0003701", }, ], }, diff --git a/backend/tests/fixtures/associations.py b/backend/tests/fixtures/associations.py index 7d7a4cd14..07f08b23c 100644 --- a/backend/tests/fixtures/associations.py +++ b/backend/tests/fixtures/associations.py @@ -6,3715 +6,3990 @@ def associations(): return { "limit": 20, "offset": 0, - "total": 5013, + "total": 5116, "items": [ { - "id": "uuid:1ccfb83b-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c66e15a4-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "original_subject": "OMIM:253280", + "subject": "MONDO:0013711", + "original_subject": "Orphanet:397744", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", + "disease", + "hereditary neuromuscular disease", "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0001290", + "object": "HP:0000762", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0082555", - "HP:0001290", - "BFO:0000002", - "UPHENO:0002320", - "UPHENO:0002816", + "UPHENO:0002976", + "UBERON:0001062", + "UBERON:0011216", + "BFO:0000020", + "UPHENO:0002433", + "UPHENO:0002530", + "BFO:0000015", + "UBERON:0000468", + "UPHENO:0002281", + "HP:0000118", + "GO:0003008", + "UBERON:0000061", + "UBERON:0000467", "BFO:0000002", - "UPHENO:0082557", - "BFO:0000001", + "UBERON:0010000", "UPHENO:0001001", - "HP:0011804", - "HP:0033127", - "UPHENO:0001003", - "UBERON:0000468", - "UBERON:0011216", + "UPHENO:0002963", + "HP:0001311", + "CL:0000111", + "HP:0032120", + "UPHENO:0002308", + "UPHENO:0004523", + "UPHENO:0002525", + "BFO:0000003", + "BFO:0000002", + "GO:0007154", "HP:0000001", - "HP:0003011", - "PATO:0000001", - "HP:0003808", - "UPHENO:0001002", - "UBERON:0001062", - "HP:0000118", + "UPHENO:0002385", + "HP:0012638", + "HP:0040129", "UPHENO:0002536", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0001630", - "BFO:0000020", "BFO:0000001", - "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0002332", - "HP:0001252", + "BFO:0000004", + "GO:0019226", + "HP:0030177", + "UPHENO:0005116", + "PATO:0000001", + "HP:0003134", + "GO:0009987", + "GO:0032501", + "GO:0050877", + "UBERON:0001016", + "HP:0000762", + "HP:0410008", + "UPHENO:0002568", + "UPHENO:0002463", + "UPHENO:0001002", + "GO:0008150", "BFO:0000040", - "UBERON:0000467", - "UBERON:0005090", + "UBERON:0000010", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", "UPHENO:0082875", - "UBERON:0000061", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", - "UBERON:0000062", + "UPHENO:0001003", + "BFO:0000001", + "UBERON:0000465", ], - "object_label": "Generalized hypotonia", + "object_label": "Decreased nerve conduction velocity", "object_closure_label": [ + "Abnormality of the peripheral nervous system", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "multicellular anatomical structure phenotype", + "entity", + "anatomical entity", + "nervous system process", + "Abnormality of peripheral nervous system electrophysiology", + "peripheral nervous system phenotype", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "organ system subdivision", + "entity", + "process", "specifically dependent continuant", - "decreased muscle organ tone", - "decreased anatomical entity tone", - "abnormal musculature", - "quality", - "phenotype", - "Phenotypic abnormality", - "material entity", - "Abnormal muscle tone", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", + "nervous system physiology phenotype", + "organ system subdivision phenotype", + "phenotypic effect", + "multicellular anatomical structure physiology phenotype", + "nervous system phenotype", + "Abnormal nerve conduction velocity", + "taxon specific phenotype", + "peripheral nervous system physiology phenotype", + "system process", + "anatomical structure", + "anatomical entity physiology phenotype", + "anatomical system phenotype", "multicellular organism", - "organ system subdivision", - "All", + "phenotype", "continuant", - "organ", - "abnormal anatomical entity", - "independent continuant", + "Abnormal nervous system electrophysiology", + "anatomical structure phenotype", + "Decreased nerve conduction velocity", + "quality", + "Abnormality of peripheral nerve conduction", + "organ system subdivision physiology phenotype", + "Phenotypic abnormality", + "cellular process", + "multicellular organismal process", "multicellular anatomical structure", - "Abnormality of the musculature", - "anatomical structure", - "muscle organ", - "abnormality of muscle organ physiology", - "abnormality of anatomical entity physiology", - "Hypotonia", - "material anatomical entity", - "Abnormal muscle physiology", + "anatomical entity phenotype", + "occurrent", "continuant", - "entity", - "musculature of body", - "musculature", - "Generalized hypotonia", - "abnormal anatomical entity", - "Phenotypic abnormality", - "anatomical system", - "muscle structure", - "abnormality of anatomical entity physiology", - "entity", - "abnormal phenotype by ontology source", - "anatomical entity", + "material anatomical entity", + "All", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "biological_process", + "material entity", + "nervous system", + "Abnormal peripheral nervous system physiology", + "independent continuant", + "peripheral nervous system", + "cell communication", + "transmission of nerve impulse", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, - "evidence_count": 2, + "evidence_count": 1, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000269"], - "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "has_count": 2, - "has_total": 2, - "has_percentage": 100.0, - "has_quotient": 1.0, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0001290", + "has_evidence": ["ECO:0000304"], + "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0000762", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:15236414"], - "publications_links": [{"id": "PMID:15236414", "url": "http://identifiers.org/pubmed/15236414"}], - "frequency_qualifier": None, - "onset_qualifier": "HP:0003577", + "publications": None, + "publications_links": [], + "frequency_qualifier": "HP:0040282", + "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], - "onset_qualifier_label": "Congenital onset", - "onset_qualifier_namespace": "HP", - "onset_qualifier_category": "biolink:PhenotypicFeature", - "onset_qualifier_closure": ["HP:0031797", "HP:0000001", "HP:0003577", "HP:0012823", "HP:0003674"], - "onset_qualifier_closure_label": [ - "All", - "Congenital onset", - "Clinical modifier", - "Clinical course", - "Onset", - ], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, + "onset_qualifier_label": None, + "onset_qualifier_namespace": None, + "onset_qualifier_category": None, + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, }, { - "id": "uuid:1ccfb864-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c66e15a5-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "original_subject": "OMIM:253280", + "subject": "MONDO:0013711", + "original_subject": "Orphanet:397744", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", + "disease", + "hereditary neuromuscular disease", "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0000545", + "object": "HP:0001265", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "HP:0000234", - "UBERON:0002104", - "HP:0000539", - "BFO:0000002", - "UPHENO:0001003", - "UBERON:0001444", - "UBERON:0013702", - "UBERON:0007811", - "UBERON:0000020", - "UPHENO:0001002", - "BFO:0000001", + "UPHENO:0049622", + "UPHENO:0005629", + "UPHENO:0005491", + "UPHENO:0050606", + "UBERON:0001062", + "UPHENO:0049587", "UBERON:0000061", - "UBERON:0000019", - "UBERON:0010230", - "UBERON:0000153", - "UBERON:0011676", - "UBERON:0013701", - "UPHENO:0001001", - "HP:0012373", - "UBERON:0015203", - "UPHENO:0075997", + "NBO:0000389", + "UPHENO:0002433", + "UPHENO:0053473", + "UPHENO:0002530", + "UPHENO:0079833", + "BFO:0000015", "UBERON:0000468", - "HP:0000315", - "HP:0000001", - "UPHENO:0003020", - "PATO:0000001", - "HP:0000271", - "BFO:0000040", - "UBERON:0001062", - "HP:0000152", - "UPHENO:0002910", - "HP:0000478", "HP:0000118", + "BFO:0000001", + "GO:0003008", + "NBO:0000403", + "NBO:0000001", + "HP:0001265", + "UPHENO:0049708", "UPHENO:0002536", - "BFO:0000004", - "UBERON:0015212", - "UBERON:0010314", - "UBERON:0001456", - "UBERON:0000970", + "UBERON:0000467", "BFO:0000002", - "UPHENO:0002844", - "UBERON:0004121", + "HP:0001315", + "UPHENO:0049703", + "GO:0008150", "UBERON:0010000", - "UBERON:0004456", - "UBERON:0000033", - "UBERON:0004088", - "BFO:0000001", - "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0002219", + "UPHENO:0001001", + "UPHENO:0052915", "BFO:0000020", - "UBERON:0001032", - "UPHENO:0002764", - "UPHENO:0002332", - "UBERON:0000467", - "UBERON:0000047", - "UPHENO:0082875", - "UBERON:0034923", - "HP:0000545", - "UPHENO:0075696", - "UBERON:0000475", - "UBERON:0000062", + "UPHENO:0002963", + "HP:0011446", + "UPHENO:0049699", + "HP:0031826", + "UPHENO:0050613", + "UPHENO:0079826", + "UPHENO:0004523", + "UPHENO:0002525", + "UPHENO:0052178", + "UPHENO:0005433", + "UPHENO:0051276", + "BFO:0000003", + "BFO:0000002", + "GO:0009605", + "GO:0050879", + "GO:0007610", + "HP:0000001", + "UPHENO:0005625", + "UPHENO:0050079", + "UPHENO:0002385", + "HP:0012638", + "UPHENO:0050875", + "UPHENO:0049586", + "UPHENO:0080377", + "BFO:0000004", + "GO:0050882", + "NBO:0000338", + "GO:0050905", + "UPHENO:0001002", + "PATO:0000001", + "GO:0050896", + "GO:0032501", + "GO:0050881", + "NBO:0000313", + "GO:0050877", + "UBERON:0001016", + "UPHENO:0053022", + "NBO:0000388", + "HP:0100022", + "HP:0000708", + "BFO:0000040", + "GO:0060004", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", + "UPHENO:0050106", + "UPHENO:0082875", + "UPHENO:0001003", + "BFO:0000001", + "UBERON:0000465", ], - "object_label": "Myopia", + "object_label": "Hyporeflexia", "object_closure_label": [ + "multicellular organismal movement phenotype", + "biological_process phenotype", + "anatomical system", + "anatomical system physiology phenotype", + "decreased qualitatively response to external stimulus", + "material anatomical entity phenotype", + "entity", + "anatomical entity", + "musculoskeletal movement", + "behavior process", + "nervous system process", + "phenotypic effect", + "Atypical behavior", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "neuromuscular process phenotype", + "behavior phenotype", + "decreased response to external stimulus", + "decreased response to stimulus", + "process", "anatomical structure", - "subdivision of head", - "body proper", - "craniocervical region", - "sense organ", - "quality", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "phenotype", - "Abnormality of the face", + "nervous system physiology phenotype", + "reflexive behavior", + "musculoskeletal movement phenotype", + "behavior process phenotype", + "nervous system phenotype", + "taxon specific phenotype", + "decreased qualitatively reflex", + "system process", + "multicellular organismal process phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "biological_process", + "reflex", "multicellular organism", - "Abnormality of the orbital region", - "All", - "specifically dependent continuant", - "organism subdivision", - "organ", - "visual system", - "Myopia", - "abnormal anatomical entity", - "ectoderm-derived structure", - "multicellular anatomical structure", - "abnormal eyeball of camera-type eye", - "disconnected anatomical group", - "entire sense organ system", - "head", - "orbital region", - "Phenotypic abnormality", - "abnormality of anatomical entity physiology", - "material anatomical entity", - "face", - "eye", - "Abnormality of head or neck", - "abnormal face", - "Abnormality of the eye", - "continuant", - "abnormal head", - "Abnormal eye physiology", - "non-connected functional system", + "phenotype", + "decreased qualitatively response to stimulus", "continuant", - "lateral structure", - "structure with developmental contribution from neural crest", - "abnormal orbital region", - "abnormal craniocervical region", - "phenotype by ontology source", - "entity", - "Abnormality of refraction", - "abnormal anatomical entity", - "camera-type eye", - "eyeball of camera-type eye", - "simple eye", + "decreased reflex", + "response to external stimulus phenotype", + "Abnormality of mental function", + "nervous system process phenotype", + "anatomical structure phenotype", + "quality", + "voluntary movement behavior", + "body part movement", + "Abnormality of movement", "Phenotypic abnormality", + "voluntary musculoskeletal movement phenotype", + "response to stimulus", + "multicellular organismal process", + "multicellular anatomical structure", + "involuntary movement behavior", + "specifically dependent continuant", + "occurrent", + "continuant", + "material anatomical entity", + "All", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "material entity", + "nervous system", + "Abnormal reflex", + "decreased biological_process", + "reflex phenotype", "independent continuant", - "anatomical system", - "sensory system", - "abnormality of anatomical entity physiology", - "Abnormality of the head", + "response to stimulus phenotype", + "biological_process rate phenotype", + "decreased qualitatively biological_process", + "Reduced tendon reflexes", + "system process phenotype", + "voluntary movement behavior phenotype", + "Hyporeflexia", + "anatomical entity phenotype", "entity", - "abnormal phenotype by ontology source", - "abnormality of camera-type eye physiology", - "material entity", - "anatomical entity", + "response to external stimulus", + "multicellular organismal movement", + "behavior", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "neuromuscular process", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, - 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"BFO:0000001", - "HP:0040070", - "UBERON:0000465", - "UPHENO:0001005", - "HP:0009127", - "UPHENO:0084763", - "UPHENO:0076727", - "UPHENO:0020584", - "UBERON:0011582", - "UBERON:0015061", - "UBERON:0004375", - "UBERON:0002102", - "UPHENO:0076718", - "UPHENO:0002896", - "UPHENO:0086635", - "UPHENO:0076710", - "UBERON:0000467", + "HP:0012084", + "CL:0002372", + "CL:0000737", + "UBERON:0001134", + "UPHENO:0087047", + "HP:0003011", + "UPHENO:0086462", + "UPHENO:0002525", + "CL:0000000", "UBERON:0005090", - "UBERON:0010740", - "UBERON:0002513", - "UBERON:0015057", - "UBERON:0001460", - "UPHENO:0002649", - "HP:0002813", - "HP:0001435", - "UBERON:0034925", - "UBERON:0004708", - "UBERON:0000075", + "UBERON:0018254", + "UBERON:0004120", + "UPHENO:0002568", + "HP:0000001", + "HP:0004303", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0077801", + "UPHENO:0079572", + "UBERON:0000465", + "UPHENO:0002536", + "BFO:0000004", + "CL:0000228", + "CL:0008002", + "CL:0000187", + "UBERON:0014892", + "UBERON:0002036", + "CL:0000393", + "UPHENO:0001002", + "UPHENO:0079562", + "HP:0003557", + "UPHENO:0075195", + "UPHENO:0088180", + "HP:0011805", + "PATO:0000001", + "BFO:0000040", + "UBERON:0000479", "UBERON:0000383", "UBERON:0001015", - "UBERON:0010912", - "UPHENO:0075696", - "HP:0001446", - "HP:0011844", - "UBERON:0000475", - "UBERON:0000062", - "UBERON:0010741", - "UBERON:0007828", - "UBERON:0006849", - "UBERON:0008785", - "UBERON:0004481", + "UPHENO:0076710", + "UPHENO:0086172", + "UPHENO:0001003", + "BFO:0000001", + "RO:0002577", ], - "object_label": "Scapular winging", + "object_label": "Increased variability in muscle fiber diameter", "object_closure_label": [ - "abnormal appendicular skeleton morphology", - "specifically dependent continuant", - "Abnormal scapula morphology", - "anatomical structure", - "body proper", - "subdivision of organism along appendicular axis", - "skeletal element", - "bone of pectoral complex", - "girdle bone/zone", - "scapula", - "upper limb segment", - "musculature of upper limb", - "abnormal skeletal system morphology", - "abnormal musculature", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "appendage", - "appendage girdle region", - "subdivision of trunk", - "phenotype", - "abnormal skeletal system", - "skeletal system", - "Abnormality of the skeletal system", - "Abnormality of the musculoskeletal system", - "quality", - "Abnormality of limb bone", - "abnormal postcranial axial skeleton morphology", - "abnormal scapula morphology", - "abnormal arm", - "abnormal limb", - "multicellular organism", - "organ system subdivision", - "Scapular winging", - "All", - "abnormal limb bone morphology", - "abnormal anatomical entity morphology", - "organism subdivision", - "organ", - "limb bone", - "skeleton of limb", - "abnormal anatomical entity", - "Abnormality of limb bone morphology", - "Abnormality of the shoulder girdle musculature", + "cell of skeletal muscle morphology phenotype", "multicellular anatomical structure", - "limb segment", - "pectoral girdle skeleton", - "pectoral appendage musculature", - "musculature of limb", - "Abnormality of the musculature", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical collection", - "paired limb/fin", - "musculoskeletal system", + "anatomical system", + "nucleate cell", + "cell of skeletal muscle", + "contractile cell", "muscle organ", - "chest", - "Abnormal skeletal morphology", + "muscle tissue", + "electrically active cell", + "entity", + "anatomical entity", + "phenotypic effect", + "morphology of myotube phenotype", + "organ system subdivision", + "myotube", + "striated muscle cell", + "skeletal muscle tissue", + "morphology of cell of skeletal muscle phenotype", + "Abnormal cell morphology", + "multinucleate cell", + "skeletal muscle fiber", + "muscle cell", + "skeletal muscle organ, vertebrate", + "striated muscle tissue", + "electrically responsive cell", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", "Abnormal skeletal muscle morphology", - "Phenotypic abnormality", - "abnormal limb bone", - "Abnormality of limbs", - "material anatomical entity", - "pectoral complex", - "thoracic segment of trunk", - "trunk", - "bone element", - "endochondral element", - "multi-limb segment region", - "paired limb/fin segment", - "appendicular skeletal system", - "axial skeletal system", - "Abnormality of the musculature of the upper limbs", - "abnormal anatomical entity morphology", - "continuant", - "Abnormality of the upper limb", - "abnormal pectoral girdle region", - "abnormal scapula morphology", + "Abnormality of the musculature", + "size of skeletal muscle fiber phenotype", + "cell", + "muscle structure", + "skeletal musculature", "mesoderm-derived structure", - "skeleton", - "limb", - "pectoral appendage", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "lateral structure", - "postcranial axial skeletal system", - "appendage musculature", - "skeleton of pectoral complex", - "girdle skeleton", - "limb skeleton subdivision", - "musculature of pectoral complex", - "appendicular skeleton", - "axial skeleton plus cranial skeleton", - "postcranial axial skeleton", - "Abnormal thorax morphology", - "abnormal bone of pectoral complex morphology", - "phenotype by ontology source", - "entity", - "Abnormal upper limb bone morphology", - "pectoral girdle region", - "appendage girdle complex", - "subdivision of skeletal system", - "musculature of body", - "musculature", - "subdivision of skeleton", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity", - "abnormal limb morphology", - "abnormal muscle organ morphology", - "system", - "protein-containing material entity", - "bone of appendage girdle complex", - "endochondral bone", - "scapula endochondral element", - "arm", + "taxon specific phenotype", + "anatomical structure", + "cell phenotype", + "Abnormal cellular phenotype", + "Abnormality of skeletal muscle fiber size", + "anatomical entity morphology phenotype", + "size of cell phenotype", + "quality", + "organ", + "multicellular organism", + "phenotype", + "musculature phenotype", + "anatomical structure phenotype", + "material anatomical entity", + "Increased variability in muscle fiber diameter", + "size of anatomical entity phenotype", + "morphology of muscle cell phenotype", "Phenotypic abnormality", + "material anatomical entity phenotype", + "size of cell of skeletal muscle phenotype", + "specifically dependent continuant", + "anatomical entity phenotype", + "system", + "All", + "Abnormal muscle fiber morphology", "continuant", - "abnormal chest", - "abnormal anatomical entity morphology in the independent continuant", + "muscle organ morphology phenotype", + "material entity", + "skeletal muscle tissue morphology phenotype", + "multicellular anatomical structure phenotype", "independent continuant", - "anatomical system", - "muscle structure", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "forelimb", - "abnormal musculature of upper limb", - "abnormal musculature of limb", + "tissue", + "musculature of body", + "musculature", "entity", - "pectoral girdle bone", - "abnormal phenotype by ontology source", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal axial skeleton morphology", - "Abnormal appendicular skeleton morphology", - "material entity", - "anatomical entity", + "continuant", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, - "evidence_count": 2, + "evidence_count": 1, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000269"], - "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "has_count": 5, - "has_total": 10, - "has_percentage": 50.0, - "has_quotient": 0.5, - "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0003691", + "has_evidence": ["ECO:0000304"], + "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003557", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:33974137"], - "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], - "frequency_qualifier": None, + "publications": None, + "publications_links": [], + "frequency_qualifier": "HP:0040282", "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, }, { - "id": "uuid:1cc2bd26-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c66e15ab-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "original_subject": "OMIM:301075", + "subject": "MONDO:0013711", + "original_subject": "Orphanet:397744", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000002", - "MONDO:0018949", - "MONDO:0100546", - "BFO:0000017", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "OGMS:0000031", - "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0024771", - "MONDO:0003847", - "MONDO:0020121", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", + "MONDO:0002545", ], - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "specifically dependent continuant", - "disease", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", "distal myopathy", - "skeletal muscle disorder", - "neuromuscular disease", + "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "realizable entity", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "entity", - "myopathy, distal, 7, adult-onset, X-linked", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0012548", + "object": "HP:0008180", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "BFO:0000002", - "UPHENO:0001003", - "HP:0011805", - "UPHENO:0002816", - "UPHENO:0076692", - "BFO:0000001", - "UPHENO:0001001", - "HP:0033127", - "UBERON:0000468", - "UBERON:0011216", - "HP:0000001", - "HP:0003011", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000001", + "HP:0003236", "BFO:0000040", "UBERON:0001062", + "UPHENO:0076286", + "HP:0040081", + "UPHENO:0049587", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000468", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", + "BFO:0000020", + "UPHENO:0002530", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "BFO:0000015", + "UBERON:0000178", "HP:0000118", + "GO:0032991", + "CHEBI:23367", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", "UPHENO:0002536", + "UPHENO:0002554", + "UBERON:0000467", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", + "UPHENO:0089759", "BFO:0000002", - "BFO:0000004", "UBERON:0010000", - "UBERON:0001630", + "UPHENO:0001001", + "UPHENO:0089764", + "UPHENO:0002963", + "HP:0008180", + "HP:0430071", + "UBERON:0004120", + "UBERON:0006314", + "UPHENO:0051763", + "UPHENO:0046383", + "HP:0001871", + "UPHENO:0004459", + "BFO:0000003", + "BFO:0000002", + "HP:0000001", + "HP:0011021", + "UPHENO:0046284", + "UPHENO:0051612", + "UPHENO:0051804", + "UPHENO:0002525", + "GO:0042592", + "GO:0005575", + "CHEBI:24431", "UBERON:0000465", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0076710", - "HP:0012548", - "UBERON:0000467", - "UBERON:0005090", - "UBERON:0000061", - "UBERON:0000383", - "UBERON:0001015", - "UBERON:0000062", + "UPHENO:0077817", + "BFO:0000001", + "BFO:0000004", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "GO:0008152", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", + "CHEBI:16541", + "GO:0002185", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0049904", + "UPHENO:0001002", + "HP:0001939", + "PATO:0000001", + "GO:0008150", + "HP:0010876", + "HP:0033405", + "HP:0004364", + "UPHENO:0001003", + "BFO:0000001", + "PR:000050567", ], - "object_label": "Fatty replacement of skeletal muscle", + "object_label": "Mildly elevated creatine kinase", "object_closure_label": [ - "abnormal musculature", - "quality", - "phenotype", - "Phenotypic abnormality", + "homeostatic process phenotype", + "biological_process phenotype", + "anatomical system", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid", + "organic amino compound", + "carboxamide", + "primary amide", + "material anatomical entity phenotype", "entity", - "Abnormality of the musculoskeletal system", + "material entity", + "anatomical entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "Abnormality of metabolism/homeostasis", + "blood protein polypeptide chain level phenotype", + "blood chemical entity level phenotype", + "anatomical structure phenotype", + "blood", "multicellular organism", - "organ system subdivision", - "All", - "specifically dependent continuant", - "organ", - "independent continuant", - "multicellular anatomical structure", - "Abnormality of the musculature", + "entity", + "process", "anatomical structure", - "muscle organ", - "Abnormal skeletal muscle morphology", - "material anatomical entity", - "abnormal anatomical entity morphology", - "continuant", + "organism substance", + "specifically dependent continuant", + "role blood level phenotype", + "Abnormal circulating creatine kinase concentration", + "Elevated circulating creatine kinase concentration", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "Abnormal circulating organic compound concentration", + "phenotypic effect", + "mesoderm-derived structure", + "bodily fluid", + "peptide", + "multicellular organism chemical entity level phenotype", + "nitrogen molecular entity level phenotype", + "taxon specific phenotype", + "protein-containing complex", + "molecular entity", + "Abnormal circulating nitrogen compound concentration", + "anatomical system phenotype", + "Mildly elevated creatine kinase", + "quality", + "protein polypeptide chain", + "creatine kinase complex", + "organic molecular entity", + "nitrogen molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "phenotype", + "blood organic molecular entity level phenotype", "continuant", - 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"BFO:0000002", - "UPHENO:0002536", + "UPHENO:0002643", + "UPHENO:0052161", "BFO:0000001", - "BFO:0000004", - "UBERON:0015212", - "UBERON:0006058", - "UBERON:0010538", - "HP:0002814", - "UPHENO:0003070", + "UPHENO:0005513", + "UPHENO:0002211", "BFO:0000002", - "UPHENO:0080555", - "UPHENO:0002647", + "GO:0003008", + "UBERON:0000061", + "GO:0050954", + "UPHENO:0002526", + "HP:0000152", + "UPHENO:0077965", + "HP:0011389", + "UPHENO:0005512", + "UPHENO:0077889", + "UBERON:0000467", + "HP:0031704", + "UPHENO:0049703", + "GO:0008150", + "UBERON:0010314", + "UBERON:0004121", "UBERON:0010000", - "UBERON:0001630", "BFO:0000020", + "HP:0000407", + "UPHENO:0049699", + "UPHENO:0077990", + "UPHENO:0002903", + "UPHENO:0002764", + "UPHENO:0005437", + "UPHENO:0002308", + "UPHENO:0002525", + "UBERON:0000153", + "UBERON:0011676", + "UBERON:0013701", + "UPHENO:0052231", + "UPHENO:0050625", + "UPHENO:0052178", + "UPHENO:0005433", + "UPHENO:0078736", + "HP:0031703", + "UPHENO:0002301", + "UPHENO:0002568", + "BFO:0000003", + "HP:0000001", + "BFO:0000002", + "UPHENO:0052970", + "UPHENO:0076692", + "UPHENO:0002385", + "UPHENO:0052159", "UBERON:0000465", - 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"skeletal muscle organ, vertebrate", - "abnormal anatomical entity", - "multicellular anatomical structure", - "leg", - "limb segment", - "musculature of limb", - "Abnormality of the musculature", - "paired limb/fin", - "muscle organ", - "abnormality of muscle organ physiology", - "Abnormal skeletal muscle morphology", - "abnormality of anatomical entity physiology", - "Distal lower limb muscle weakness", - "Abnormality of limbs", + "multicellular organism", + "head", + "decreased qualitatively sensory perception of sound", + "nervous system process phenotype", + "anatomical structure phenotype", "material anatomical entity", - "pelvic complex", - "multi-limb segment region", - "paired limb/fin segment", - "abnormal anatomical entity morphology", - "continuant", - "Abnormal muscle physiology", - "limb", - "pelvic appendage", - "entity", - "lateral structure", - "appendage musculature", - "musculature of pelvic complex", - "pelvic complex muscle", - "phenotype by ontology source", - "appendage girdle complex", - 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"UBERON:0015212", - "UBERON:0010314", - "UBERON:0004121", - "UBERON:0000970", + "GO:0008150", + "UBERON:0010000", "UPHENO:0001001", + "BFO:0000020", + "UPHENO:0002963", + "HP:0011446", + "UPHENO:0049699", + "UPHENO:0050613", + "UPHENO:0079826", + "UPHENO:0004523", + "HP:0004305", + "BFO:0000003", "BFO:0000002", - "UPHENO:0015280", - "UPHENO:0021474", - "UPHENO:0002844", - "HP:0000481", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0004456", - "UBERON:0000033", - "UBERON:0004088", - "UBERON:0001456", + "GO:0050879", + "HP:0000001", + "UPHENO:0002385", + "HP:0012638", + "UPHENO:0050875", + "UPHENO:0002525", "UBERON:0000465", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0020584", - "BFO:0000001", - "UBERON:0001032", - "HP:0007957", - "UPHENO:0002764", - "UPHENO:0087577", + "BFO:0000004", + "GO:0050882", + "NBO:0000338", + "GO:0050905", + "GO:0006936", + "UPHENO:0001002", + "PATO:0000001", + "GO:0032501", + "GO:0050881", + "NBO:0000313", + "GO:0050877", + "GO:0003012", + "UBERON:0001016", + "UPHENO:0051293", + "GO:0003009", + "HP:0100022", + "HP:0000708", "BFO:0000040", - "UBERON:0000467", - "UBERON:0000047", - "UPHENO:0088026", - "HP:0007759", - "UBERON:0000061", - "UBERON:0034923", - "UPHENO:0075696", - "UPHENO:0021038", - "UBERON:0000475", - "UBERON:0000062", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", + "UPHENO:0050106", + "UPHENO:0082875", + "UPHENO:0001003", ], - "object_label": "Opacification of the corneal stroma", + "object_label": "Tremor", "object_closure_label": [ - "Abnormal anterior eye segment morphology", + "nervous system physiology phenotype", + "multicellular organismal movement phenotype", + "skeletal muscle contraction phenotype", + "biological_process phenotype", "entity", - "subdivision of head", - "body proper", - "craniocervical region", - "sense organ", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "Phenotypic abnormality", - "Abnormality of the face", - "material entity", - "organ part", - "anterior segment of eyeball", - "anatomical wall", - "organ component layer", - "stroma", - "organ subunit", - "abnormal craniocervical region morphology", - "quality", - "tunica fibrosa of eyeball", - "cornea", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "musculoskeletal movement", + "behavior process", + "nervous system process", + "muscle system process", + "phenotypic effect", + "Atypical behavior", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "neuromuscular process phenotype", + "anatomical structure phenotype", "multicellular organism", - "Abnormality of the orbital region", - "All", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "continuant", - "organism subdivision", - "organ", - "visual system", - "abnormal anatomical entity", - "Opacification of the corneal stroma", - "independent continuant", - "multicellular anatomical structure", - "abnormal eyeball of camera-type eye", - "abnormal anterior segment of eyeball morphology", - "abnormal ocular surface region morphology", + "behavior phenotype", + "process", "anatomical structure", - "disconnected anatomical group", - "entire sense organ system", - "head", - "orbital region", - "face", - "abnormal cornea morphology", - "abnormal cornea morphology", - "material anatomical entity", - "substantia propria of cornea", - "eye", - "Abnormality of head or neck", - "abnormal head morphology", - "abnormal face", - "Abnormality of the eye", - "abnormal camera-type eye morphology", - "abnormal anatomical entity morphology", - "abnormal camera-type eye morphology", - "abnormal head", - "non-connected functional system", - "entity", - "lateral structure", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "Corneal opacity", - "abnormal orbital region", - "Abnormal eye morphology", - "abnormal face morphology", - "abnormal craniocervical region", - "phenotype by ontology source", - "Abnormal corneal stroma morphology", - "Abnormal cornea morphology", - "abnormal anatomical entity", - "protein-containing material entity", - "camera-type eye", - "neural crest-derived structure", - "eyeball of camera-type eye", - "ocular surface region", - "simple eye", + "muscle contraction phenotype", + "muscle system process phenotype", + "voluntary skeletal muscle contraction", + "musculoskeletal movement phenotype", + "behavior process phenotype", + "nervous system phenotype", + "anatomical entity", + "taxon specific phenotype", + "behavior", + "system process", + "multicellular organismal process phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "biological_process", "phenotype", + "continuant", + "Abnormality of mental function", + "nervous system process phenotype", + "material anatomical entity", + "Tremor", + "Abnormal central motor function", + "striated muscle contraction phenotype", + "quality", + "voluntary movement behavior", + "body part movement", + "striated muscle contraction", + "Abnormality of movement", + "voluntary skeletal muscle contraction phenotype", "Phenotypic abnormality", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical system", - "sensory system", + "voluntary musculoskeletal movement phenotype", + "multicellular organismal process", + "multicellular anatomical structure", + "skeletal muscle contraction", + "specifically dependent continuant", + "entity", + "occurrent", "continuant", - "Abnormality of the head", - "abnormal substantia propria of cornea morphology", - "abnormal phenotype by ontology source", - "abnormal anterior segment of eyeball morphology", - "anatomical entity", + "All", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "material entity", + "nervous system", + "Involuntary movements", + "independent continuant", + "system process phenotype", + "voluntary movement behavior phenotype", + "anatomical entity phenotype", + "multicellular organismal movement", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "neuromuscular process", + "muscle contraction", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, "evidence_count": 1, "knowledge_level": "knowledge_assertion", @@ -3725,328 +4000,256 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0007759", + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001337", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], + "publications": None, "publications_links": [], - "frequency_qualifier": None, + "frequency_qualifier": "HP:0040283", "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, }, { - "id": "uuid:1ccfb836-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c66e15b4-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "original_subject": "OMIM:253280", + "subject": "MONDO:0013711", + "original_subject": "Orphanet:397744", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0000486", + "object": "HP:0003701", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "HP:0000234", - "UPHENO:0049587", - "UBERON:0000466", - "NBO:0000338", - "UBERON:0002104", - "UPHENO:0001003", - "HP:0012638", - "UBERON:0001444", - "UBERON:0013702", - "UBERON:0007811", - "UBERON:0000020", - "BFO:0000003", - "NBO:0000313", - "UPHENO:0049586", - "UPHENO:0079826", - "UPHENO:0004523", - "BFO:0000001", - "UBERON:0000061", - "UBERON:0000019", - "UBERON:0010230", - "UBERON:0000153", - "UBERON:0011676", - "UBERON:0013701", - "HP:0012373", - "GO:0050896", - "GO:0032501", - "UBERON:0015203", - "NBO:0000001", - "UPHENO:0075997", - "PATO:0000001", - "UBERON:0000015", - "UBERON:0000468", - "HP:0000315", - "HP:0000001", - "UPHENO:0003020", - "UPHENO:0079828", - "HP:0011446", - "UPHENO:0001002", - "HP:0000271", - "HP:0000707", - "BFO:0000001", + "HP:0001324", + "UPHENO:0002976", + "BFO:0000040", "UBERON:0001062", - "BFO:0000141", - "UBERON:0006800", - "UPHENO:0080585", - "HP:0000152", - "UPHENO:0002910", - "HP:0000478", + "HP:0033127", + "UBERON:0011216", + "UPHENO:0001001", + "BFO:0000020", + "UPHENO:0002530", + "UBERON:0000062", + "UBERON:0000468", "HP:0000118", - "BFO:0000002", + "UBERON:0000061", + "UPHENO:0002526", + "UPHENO:0080555", "UPHENO:0002536", - "BFO:0000004", - "UBERON:0015212", - "UBERON:0010314", - "UBERON:0000970", - "UPHENO:0001001", - "BFO:0000002", - "UBERON:0010222", - "UPHENO:0002844", - "HP:0000496", - "BFO:0000015", - "UBERON:0004121", + "HP:0011804", + "UBERON:0000467", + "UBERON:0001630", + "UPHENO:0080556", + "BFO:0000001", "UBERON:0010000", - "UBERON:0001016", - "UBERON:0004456", - "NBO:0000444", - "UBERON:0000033", - "UBERON:0004088", - "UBERON:0001456", - "UPHENO:0049622", - "UPHENO:0002433", + "UPHENO:0003047", + "HP:0003701", + "HP:0003011", + "UPHENO:0002308", + "UPHENO:0002525", + "UBERON:0005090", + "UPHENO:0002359", + "UPHENO:0003022", + "UPHENO:0002568", + "BFO:0000002", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0002385", "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0002219", - "BFO:0000020", - "HP:0000486", - "UBERON:0001032", - "UPHENO:0002764", - "UPHENO:0002332", - "HP:0000549", - "GO:0008150", - "BFO:0000040", - "UBERON:0000467", - "UBERON:0000047", + "BFO:0000004", + "UPHENO:0002320", + "UPHENO:0001002", + "UPHENO:0002386", + "PATO:0000001", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0002267", "UPHENO:0082875", - "HP:0000708", - "UBERON:0034923", - "UPHENO:0075696", - "UPHENO:0080581", - "GO:0007610", - "UBERON:0000475", - "UBERON:0000062", + "UPHENO:0001003", + "BFO:0000001", ], - "object_label": "Strabismus", + "object_label": "Proximal muscle weakness", "object_closure_label": [ - "abnormal response to stimulus", - "abnormality of nervous system physiology", - "abnormal behavior process", - "abnormal nervous system", - "anatomical structure", - "subdivision of head", - "body proper", - "craniocervical region", - "sense organ", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "Phenotypic abnormality", - "Abnormality of the face", - "Abnormality of the nervous system", + "decreased anatomical entity strength", + "organ physiology phenotype", + "anatomical system", + "muscle organ", + "material anatomical entity phenotype", "entity", - "biological_process", "material entity", - "behavior process", - "quality", - "non-material anatomical boundary", - "multicellular organism", - "Abnormality of the orbital region", - "All", + "anatomical entity", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "organ system subdivision", + "Muscle weakness", "specifically dependent continuant", - "Strabismus", - "occurrent", - "organism subdivision", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormality of the musculature", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "taxon specific phenotype", + "anatomical structure", + "anatomical entity physiology phenotype", + "quality", "organ", - "visual system", - "abnormal anatomical entity", - "Atypical behavior", - "process", - "ectoderm-derived structure", - "multicellular anatomical structure", - "abnormal behavior", - "abnormal eyeball of camera-type eye", - "abnormal eye movement", - "Abnormality of mental function", - "Abnormal nervous system physiology", - "disconnected anatomical group", - "nervous system", - "entire sense organ system", - "eye movement", - "head", - "orbital region", - "face", - "abnormality of anatomical entity physiology", - "abnormal biological_process", + "multicellular organism", + "musculature phenotype", + "anatomical structure phenotype", "material anatomical entity", - "eye", - "abnormal behavior process", - "Abnormality of head or neck", - "abnormal face", - "Abnormality of the eye", - "abnormal eye movement", - "continuant", - "anatomical line between pupils", - "abnormal head", - "Abnormal eye physiology", - "response to stimulus", - "multicellular organismal process", - "non-connected functional system", - "Abnormality of eye movement", - "lateral structure", - "structure with developmental contribution from neural crest", - "abnormal orbital region", - "abnormal craniocervical region", - "phenotype by ontology source", - "behavior", - "kinesthetic behavior", - "abnormal anatomical entity", - "Abnormal conjugate eye movement", - "immaterial anatomical entity", - "camera-type eye", - "eyeball of camera-type eye", - "body part movement", - "simple eye", - "phenotype", "Phenotypic abnormality", + "Abnormal muscle physiology", + "multicellular anatomical structure", + "entity", "continuant", + "All", + "continuant", + "material anatomical entity physiology phenotype", + "phenotype", + "muscle structure phenotype", + "Proximal muscle weakness", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "multicellular anatomical structure phenotype", "independent continuant", - "anatomical system", - "sensory system", - "abnormality of anatomical entity physiology", - "Abnormality of the head", - "entity", - "abnormal phenotype by ontology source", - "abnormality of camera-type eye physiology", - "anatomical entity", - "immaterial entity", - "anatomical line", + "musculature of body", + "musculature", + "decreased muscle organ strength", + "organ phenotype", + "anatomical entity phenotype", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, "evidence_count": 1, "knowledge_level": "knowledge_assertion", @@ -4057,322 +4260,226 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000486", + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003701", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], + "publications": None, "publications_links": [], - "frequency_qualifier": None, + "frequency_qualifier": "HP:0040283", "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, }, { - "id": "uuid:1ccfb837-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c66e15b5-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "original_subject": "OMIM:253280", + "subject": "MONDO:0013711", + "original_subject": "Orphanet:397744", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0000485", + "object": "HP:0001250", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "HP:0000234", - "PR:000050567", - "UBERON:0002104", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0087232", - "UBERON:0001444", - "UBERON:0013702", - "UBERON:0007811", - "UBERON:0000020", - "UPHENO:0020998", - "UPHENO:0001002", - "HP:0000485", - "UPHENO:0076692", + "UBERON:0001062", + "UBERON:0000468", + "UPHENO:0001001", + "UPHENO:0002433", + "UPHENO:0002530", + "HP:0000118", "BFO:0000002", - "UBERON:0000064", - "UBERON:0001801", - "UBERON:0000060", - "UBERON:0004923", - "UBERON:0000063", - "HP:0004328", - "UPHENO:0075195", - "UPHENO:0075222", - "BFO:0000001", "UBERON:0000061", - "UBERON:0000019", - "UBERON:0010313", - "UBERON:0010230", - "UBERON:0010409", - "UBERON:0000153", - "UBERON:0011676", - "UBERON:0013701", - "UBERON:0015203", - "UPHENO:0075997", - "HP:0012372", - "UPHENO:0087472", - "UPHENO:0001072", - "UBERON:0012430", - "UBERON:0000964", - "UBERON:0000468", - "HP:0000315", + "UBERON:0000467", + "UBERON:0010000", + "BFO:0000020", + "UPHENO:0002963", + "UPHENO:0004523", + "UPHENO:0002525", "HP:0000001", - "UPHENO:0003020", - "UPHENO:0087597", - "PATO:0000001", - "UPHENO:0086589", - "HP:0000271", - "BFO:0000001", - "BFO:0000040", - "UBERON:0001062", - "HP:0000152", - "UPHENO:0087907", - "UPHENO:0002910", - "HP:0000478", - "UPHENO:0087924", - "HP:0000118", + "BFO:0000002", + "UPHENO:0002385", + "HP:0012638", + "UBERON:0000465", "UPHENO:0002536", - "UBERON:0015212", - "UBERON:0010314", - "UBERON:0001456", - "UBERON:0000970", - "UPHENO:0001001", - "UPHENO:0015280", - "UPHENO:0021474", - "UPHENO:0002844", - "UPHENO:0065599", - "HP:0000481", + "BFO:0000001", "BFO:0000004", - "UBERON:0004121", - "UBERON:0010000", - "UBERON:0004456", - "UBERON:0000033", - "UBERON:0004088", - "UBERON:0000465", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0020584", - "UBERON:0001032", - "UPHENO:0002764", - "UPHENO:0087577", - "UBERON:0000467", - "UBERON:0000047", - "UPHENO:0001550", - "UBERON:0034923", - "HP:0001120", - "UPHENO:0075696", - "UPHENO:0021038", - "UBERON:0000475", - "UBERON:0000062", + "UBERON:0001016", + "HP:0001250", + "UPHENO:0001002", + "PATO:0000001", + "BFO:0000040", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", + "UPHENO:0082875", + "UPHENO:0001003", + "BFO:0000001", ], - "object_label": "Megalocornea", + "object_label": "Seizure", "object_closure_label": [ - "Abnormal anterior eye segment morphology", - "abnormal size of cornea", - "anatomical structure", - "subdivision of head", - "body proper", - "craniocervical region", - "sense organ", - "Megalocornea", - "quality", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "Abnormality of the face", + "Seizure", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", "entity", - "organ part", - "anterior segment of eyeball", - "anatomical wall", - "organ component layer", - "organ subunit", - "abnormal craniocervical region morphology", - "increased size of the anatomical entity", - "tunica fibrosa of eyeball", - "cornea", + "anatomical entity", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", "multicellular organism", - "Abnormality of the orbital region", - "All", + "entity", + "nervous system physiology phenotype", + "phenotypic effect", + "nervous system phenotype", + "taxon specific phenotype", + "anatomical structure", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "quality", + "anatomical structure phenotype", + "material anatomical entity", + "Phenotypic abnormality", + "multicellular anatomical structure", "specifically dependent continuant", - "abnormal anatomical entity morphology", + "anatomical entity phenotype", + "All", "continuant", - "organism subdivision", - "organ", - "visual system", - "Abnormality of corneal size", - "abnormal anatomical entity", - "increased size of the cornea", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "material entity", + "nervous system", + "phenotype", "independent continuant", - "ectoderm-derived structure", - "multicellular anatomical structure", - "abnormal eyeball of camera-type eye", - "abnormal anterior segment of eyeball morphology", - "abnormal ocular surface region morphology", - "disconnected anatomical group", - "entire sense organ system", - "head", - "orbital region", - "abnormal cornea morphology", - "Phenotypic abnormality", - "abnormal cornea morphology", - "material anatomical entity", - "face", - "eye", - "Abnormality of head or neck", - "abnormal head morphology", - "abnormal face", - "Abnormality of the eye", - "abnormal camera-type eye morphology", - "abnormal anatomical entity morphology", - "abnormal camera-type eye morphology", - "abnormal head", - "increased size of the anatomical entity in independent continuant", - "non-connected functional system", "continuant", - "lateral structure", - "structure with developmental contribution from neural crest", - "abnormal orbital region", - "Abnormal eye morphology", - "abnormal face morphology", - "abnormal craniocervical region", - "phenotype by ontology source", - "Abnormal cornea morphology", - "abnormal anatomical entity", - "protein-containing material entity", - "camera-type eye", - "neural crest-derived structure", - "eyeball of camera-type eye", - "ocular surface region", - "simple eye", - "phenotype", - "Phenotypic abnormality", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical system", - "sensory system", - "Abnormality of the head", - "entity", - "abnormal phenotype by ontology source", - "abnormal size of anatomical entity", - "abnormal anterior segment of eyeball morphology", - "material entity", - "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, "evidence_count": 1, "knowledge_level": "knowledge_assertion", @@ -4383,226 +4490,326 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000485", + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001250", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], + "publications": None, "publications_links": [], - "frequency_qualifier": None, + "frequency_qualifier": "HP:0040284", "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, }, { - "id": "uuid:1ccfb839-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c66e15b7-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "original_subject": "OMIM:253280", + "subject": "MONDO:0013711", + "original_subject": "Orphanet:397744", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", + "disease", + "hereditary neuromuscular disease", "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0002187", + "object": "HP:0001605", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "GO:0050890", - "UPHENO:0001003", - "HP:0012638", - "BFO:0000003", - "GO:0050877", - "UBERON:0001016", - "UPHENO:0004523", - "BFO:0000001", - "HP:0012759", - "GO:0032501", - "HP:0100543", - "PATO:0000001", - "UBERON:0000468", - "HP:0000001", - "HP:0011446", - "UPHENO:0001002", - "HP:0000707", + "UPHENO:0075901", "BFO:0000040", "UBERON:0001062", + "BFO:0000001", + "UPHENO:0002433", + "UPHENO:0002530", + "NBO:0000644", + "UBERON:0000062", + "UBERON:0004111", + "UBERON:0000468", + "UPHENO:0004536", + "HP:0031801", + "HP:0011442", + "UPHENO:0002731", "HP:0000118", - "UPHENO:0002536", - "HP:0002187", - "UPHENO:0001001", + "UPHENO:0002531", + "UPHENO:0078735", "BFO:0000002", + "UBERON:0000061", + "UPHENO:0002526", + "UPHENO:0002988", + "HP:0002086", + "UBERON:0000467", + "UBERON:0000072", + "UBERON:0002486", + "UBERON:0000065", + "UPHENO:0075930", + "HP:0001605", "BFO:0000002", - "BFO:0000015", - "BFO:0000004", + "HP:0003470", + "NBO:0000009", "UBERON:0010000", - "HP:0001249", + "UPHENO:0001001", "BFO:0000020", - "UPHENO:0002433", - "BFO:0000001", + "UPHENO:0002963", + "NBO:0000243", + "UPHENO:0002308", + "UPHENO:0004523", + "UBERON:0004119", + "UPHENO:0002360", + "HP:0002087", + "NBO:0000568", + "HP:0000001", + "UPHENO:0002313", + "UPHENO:0002574", + "UPHENO:0002385", + "UPHENO:0002734", + "HP:0012638", + "UPHENO:0002525", "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0002332", - "GO:0008150", - "UBERON:0000467", + "UBERON:0034681", + "UBERON:0003103", + "UBERON:0000025", + "UPHENO:0002448", + "UPHENO:0081700", + "UPHENO:0002536", + "BFO:0000001", + "BFO:0000004", + "UBERON:0003706", + "UBERON:0001557", + "UBERON:0001737", + "UPHENO:0001002", + "UPHENO:0081708", + "HP:0002795", + "NBO:0000032", + "UBERON:0015212", + "UBERON:0000064", + "UBERON:0001004", + "UBERON:0001016", + "UPHENO:0002386", + "UPHENO:0002568", + "HP:0001600", + "HP:0012252", + "PATO:0000001", + "UBERON:0001005", + "UBERON:0013522", + "UPHENO:0002269", + "HP:0001608", + "HP:0000707", + "UPHENO:0003032", + "UPHENO:0002267", "UPHENO:0082875", - "UBERON:0000061", - "UPHENO:0075696", - "GO:0003008", + "UPHENO:0001003", ], - "object_label": "Intellectual disability, profound", + "object_label": "Vocal cord paralysis", "object_closure_label": [ - "specifically dependent continuant", - "abnormality of nervous system physiology", - "abnormal nervous system", - "Phenotypic abnormality", - "Abnormality of the nervous system", - "biological_process", - "nervous system process", - "nervous system", - "Cognitive impairment", - "quality", - "multicellular organism", - "All", - "occurrent", - "abnormal anatomical entity", - "process", - "independent continuant", - "multicellular anatomical structure", - "Intellectual disability", - "Abnormality of mental function", + "organ physiology phenotype", + "entity", + "anatomical system", + "proximo-distal subdivision of respiratory tract", + "glottis", + "respiratory tract", + "anatomical system physiology phenotype", + "Abnormality of the voice", + "material anatomical entity phenotype", + "multicellular anatomical structure phenotype", + "Abnormality of the larynx", + "material entity", + "anatomical entity", + "lateral structure", + "phenotypic effect", + "paralysed laryngeal vocal fold", + "anatomical structure physiology phenotype", + "proximo-distal subdivision of respiratory tract phenotype", "Abnormal nervous system physiology", - "anatomical structure", - "abnormality of anatomical entity physiology", - "material anatomical entity", - "continuant", - "Neurodevelopmental abnormality", - "multicellular organismal process", - "phenotype by ontology source", + "anatomical structure phenotype", + "organ part phenotype", "entity", - "system process", - "cognition", - "abnormal anatomical entity", - "Intellectual disability, profound", + "voluntary movement behavior phenotype", + "upper respiratory tract", + "larynx", + "nervous system physiology phenotype", + "vocal organ phenotype", + "Abnormal respiratory system morphology", + "multicellular anatomical structure physiology phenotype", + "nervous system phenotype", + "behavioral phenotype", + "endoderm-derived structure", + "paralysed anatomical entity", + "taxon specific phenotype", + "anatomical structure", + "vocal organ", + "compound organ", + "tube", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "quality", + "locomotory behavior phenotype", + "organ", + "anatomical conduit", + "multicellular organism", "phenotype", + "continuant", + "endoderm-derived structure phenotype", + "material anatomical entity", + "respiratory system phenotype", + "Vocal cord dysfunction", + "Abnormal central motor function", + "Abnormal respiratory system physiology", + "lateral structure phenotype", "Phenotypic abnormality", - "anatomical system", - "abnormality of anatomical entity physiology", + "Abnormality of the respiratory system", + "paralysis", + "multicellular anatomical structure", + "upper respiratory tract phenotype", + "Vocal cord paralysis", + "specifically dependent continuant", + "anatomical entity phenotype", + "kinesthetic behavior phenotype", + "All", + "endoderm-derived structure physiology phenotype", + "Abnormality of the nervous system", + "larynx phenotype", + "material anatomical entity physiology phenotype", + "organ part", + "respiratory system", + "nervous system", + "lateral structure physiology phenotype", + "Abnormality of the upper respiratory tract", + "independent continuant", + "respiratory airway", + "subdivision of tube", + "respiratory system physiology phenotype", + "Paralysis", + "organ phenotype", + "subdivision of tube phenotype", + "laryngeal vocal fold physiology phenotype", "continuant", - "entity", - "abnormal phenotype by ontology source", - "material entity", - "anatomical entity", + "laryngeal vocal fold", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": True, "pathway": None, "evidence_count": 1, "knowledge_level": "knowledge_assertion", @@ -4613,224 +4820,336 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0002187", + "grouping_key": "MONDO:0013711|NOT|biolink:has_phenotype|HP:0001605", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], + "publications": None, "publications_links": [], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, }, { - "id": "uuid:1ccfb83a-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c66e15b8-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "original_subject": "OMIM:253280", + "subject": "MONDO:0013711", + "original_subject": "Orphanet:397744", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", - "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", + "MONDO:0000001", + "MONDO:0002545", ], - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", + "disease", + "hereditary neuromuscular disease", "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0006829", + "object": "HP:0002015", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0082555", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0002320", - "UPHENO:0002816", - "UPHENO:0082557", - "BFO:0000001", - "HP:0011804", - "HP:0033127", - "UBERON:0000468", - "UBERON:0011216", - "HP:0000001", - "HP:0003011", - "PATO:0000001", - "HP:0003808", - "UPHENO:0001002", - "HP:0006829", - "BFO:0000001", + "UPHENO:0002725", "UBERON:0001062", - "HP:0000118", - "UPHENO:0002536", - "BFO:0000004", + "UBERON:0005178", + "UBERON:0004908", + "UPHENO:0002282", + "UBERON:0000468", + "UBERON:0000064", "UPHENO:0001001", + "UPHENO:0002433", + "UPHENO:0002530", + "UPHENO:0002304", + "UBERON:0000062", + "UBERON:0004111", + "UBERON:0005181", + "UBERON:0002075", + "UBERON:0001555", + "UBERON:0002100", + "UPHENO:0002465", + "HP:0000118", + "UPHENO:0002531", "BFO:0000002", + "UBERON:0000061", + "UPHENO:0002526", + "UPHENO:0002634", + "UPHENO:0002988", + "UPHENO:0002422", + "UPHENO:0002536", "UBERON:0010000", - "UBERON:0001630", + "UBERON:0000467", + "UBERON:0005409", + "UPHENO:0002443", + "BFO:0000001", "BFO:0000020", + "UPHENO:0002963", + "UBERON:0001043", + "UBERON:0004921", + "UPHENO:0002833", + "HP:0002015", + "HP:0025032", + "UPHENO:0002308", + "UPHENO:0004523", + "UPHENO:0002525", + "UBERON:0011676", + "UBERON:0013701", + "UBERON:0009569", + "UPHENO:0003084", + "UPHENO:0002471", + "HP:0025270", + "UPHENO:0002568", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002385", + "UPHENO:0004486", + "UPHENO:0002294", + "HP:0025031", + "UPHENO:0002474", + "HP:0012638", "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0002332", - "HP:0001252", + "UBERON:0013702", + "UBERON:0013765", + "UBERON:0005177", + "UBERON:0000025", + "UPHENO:0002464", + "HP:0011024", + "UPHENO:0002994", + "UPHENO:0003086", + "BFO:0000004", + "UPHENO:0003088", + "UBERON:0001007", + "UBERON:0001016", + "UBERON:0000915", + "UPHENO:0002393", + "UPHENO:0002386", + "HP:0012719", + "UPHENO:0001002", + "UPHENO:0002295", + "PATO:0000001", "BFO:0000040", - "UBERON:0000467", - "UBERON:0005090", + "UBERON:0000475", + "UBERON:0013522", + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", "UPHENO:0082875", - "UBERON:0000061", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", - "UBERON:0000062", + "UPHENO:0001003", + "UPHENO:0002546", + "BFO:0000001", + "RO:0002577", ], - "object_label": "Severe muscular hypotonia", + "object_label": "Dysphagia", "object_closure_label": [ - "specifically dependent continuant", - "decreased muscle organ tone", - "decreased anatomical entity tone", - "abnormal musculature", - "quality", - "Phenotypic abnormality", - "Severe muscular hypotonia", + "organ part physiology phenotype", + "trunk region element physiology phenotype", + "organ physiology phenotype", + "multicellular anatomical structure", + "anatomical system", + "alimentary part of gastrointestinal system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", "entity", - "material entity", - "Abnormal muscle tone", - "Abnormality of the musculoskeletal system", + "anatomical entity", + "thoracic cavity element", + "upper digestive tract", + "anatomical structure physiology phenotype", + "esophagus phenotype", + "subdivision of tube physiology phenotype", + "Abnormality of the digestive system", + "esophagus physiology phenotype", + "Abnormal nervous system physiology", "multicellular organism", - "organ system subdivision", - "All", - "organ", - "abnormal anatomical entity", - "multicellular anatomical structure", - "Abnormality of the musculature", + "organ part", + "esophagus", + "subdivision of digestive tract", + "alimentary part of gastrointestinal system phenotype", + "organ part phenotype", + "nervous system physiology phenotype", + "viscus physiology phenotype", + "phenotypic effect", + "Abnormality of digestive system physiology", + "multicellular anatomical structure physiology phenotype", + "nervous system phenotype", + "thoracic segment organ phenotype", + "alimentary part of gastrointestinal system physiology phenotype", + "Abnormal esophagus physiology", + "subdivision of digestive tract phenotype", + "taxon specific phenotype", + "digestive system element phenotype", "anatomical structure", - "muscle organ", - "abnormality of muscle organ physiology", - "abnormality of anatomical entity physiology", - "Hypotonia", + "body proper", + "digestive system element", + "trunk region element", + "tube", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "quality", + "organ", + "anatomical conduit", + "thoracic segment of trunk", + "anatomical structure phenotype", "material anatomical entity", + "trunk region element phenotype", + "Functional abnormality of the gastrointestinal tract", + "thoracic cavity element physiology phenotype", + "Phenotypic abnormality", + "digestive system physiology phenotype", + "specifically dependent continuant", + "thoracic cavity element phenotype", + "entity", + "system", + "thoracic segment organ", + "viscus", + "digestive tract", + "trunk", + "All", "continuant", - "Abnormal muscle physiology", - "continuant", - "phenotype by ontology source", - "musculature of body", - "musculature", - "abnormal anatomical entity", + "digestive system element physiology phenotype", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "material entity", + "digestive system", + "nervous system", + "subdivision of organism along main body axis", + "main body axis", + "subdivision of trunk", "phenotype", - "Phenotypic abnormality", + "digestive system phenotype", + "Dysphagia", + "multicellular anatomical structure phenotype", "independent continuant", - "anatomical system", - "muscle structure", - "abnormality of anatomical entity physiology", - "entity", - "abnormal phenotype by ontology source", - "anatomical entity", + "organism subdivision", + "subdivision of tube", + "thoracic segment organ physiology phenotype", + "Abnormality of the gastrointestinal tract", + "subdivision of digestive tract physiology phenotype", + "organ phenotype", + "viscus phenotype", + "subdivision of tube phenotype", + "anatomical entity phenotype", + "continuant", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": True, "pathway": None, "evidence_count": 1, "knowledge_level": "knowledge_assertion", @@ -4841,852 +5160,644 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0006829", + "grouping_key": "MONDO:0013711|NOT|biolink:has_phenotype|HP:0002015", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], + "publications": None, "publications_links": [], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, }, { - "id": "uuid:1ccfb83c-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c66e15b6-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "original_subject": "OMIM:253280", + "subject": "MONDO:0013711", + "original_subject": "Orphanet:397744", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", + "disease", + "hereditary neuromuscular disease", "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0003194", + "object": "HP:0001369", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0021517", - "UPHENO:0076703", - "HP:0000234", - "UBERON:0001681", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0087950", - "UPHENO:0012541", - "UBERON:0001444", - "UBERON:0013702", - "UBERON:0007811", - "UBERON:0004765", - "UBERON:0000020", - "HP:0011842", - "UPHENO:0076692", - "UBERON:0001434", - "UPHENO:0075195", - "HP:0009121", - "UPHENO:0031839", - "UBERON:0003129", - "UBERON:0010313", - "UBERON:0008340", - "UBERON:0006813", - "UBERON:0004756", - "UBERON:0000004", - "UBERON:0000153", - "UBERON:0011676", - "UBERON:0013701", - "UBERON:0006333", - "UPHENO:0001001", - "HP:0000309", - "UBERON:0015203", - "UBERON:0004288", - "UPHENO:0088184", - "UPHENO:0087472", - "UPHENO:0087585", "HP:0000924", - "UPHENO:0046435", + "UPHENO:0002976", + "UBERON:0001062", + "UPHENO:0081581", + "HP:0001369", "HP:0033127", - "UPHENO:0022529", + "UBERON:0034925", "UBERON:0000468", "UBERON:0011216", - "HP:0000001", - "HP:0010939", - "PATO:0000001", - "UBERON:0003462", - "UBERON:0011156", - "UBERON:0008907", - "UBERON:0011159", - "UBERON:0011158", - "UBERON:0011138", - "UBERON:0005944", - "UBERON:0010364", - "UBERON:0002090", - "UPHENO:0086589", - "UPHENO:0001002", - "UPHENO:0002964", - "HP:0000271", - "UBERON:0001062", - "UBERON:0003113", - "HP:0000152", - "HP:0003194", - "UPHENO:0087907", - "UPHENO:0002910", + "UBERON:0034921", + "UPHENO:0002530", + "BFO:0000015", "HP:0000118", - "UPHENO:0002536", - "BFO:0000001", - "UBERON:0015212", - "UBERON:0010314", - "UBERON:0004121", - "UBERON:0001456", - "UBERON:0001474", - "UBERON:0002268", - "UBERON:0011137", - "UBERON:0010323", - "UPHENO:0068971", - "UPHENO:0081585", - "UPHENO:0015280", "BFO:0000002", - "UPHENO:0002844", - "UPHENO:0087089", - "BFO:0000004", + "UBERON:0000061", + "UPHENO:0076703", + "HP:0001367", + "UBERON:0000467", + "BFO:0000002", + "UPHENO:0002964", + "BFO:0000001", "UBERON:0010000", - "UBERON:0004456", - "UBERON:0002204", - "UBERON:0000033", - "UBERON:0004089", - "HP:0010937", - "UPHENO:0084457", - "UBERON:0000465", - "UPHENO:0001005", - "HP:0000422", + "UPHENO:0001001", "BFO:0000020", - "UPHENO:0020584", - "BFO:0000001", - "UBERON:0001032", - "UPHENO:0087278", - "UPHENO:0002764", - "UPHENO:0046529", - "UPHENO:0088186", + "UBERON:0000982", + "UPHENO:0002525", + "UBERON:0004770", + "UPHENO:0002568", + "BFO:0000003", + "GO:0006950", + "HP:0000001", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0002536", + "BFO:0000004", + "UBERON:0001434", + "PATO:0000001", + "UPHENO:0076767", + "GO:0050896", + "UBERON:0002204", + "GO:0006954", + "HP:0011842", + "UPHENO:0001002", + "GO:0008150", "BFO:0000040", - "UBERON:0000467", - "UBERON:0007842", - "UBERON:0002514", - "UBERON:0010428", - "UBERON:0007914", - "HP:0005105", - "UPHENO:0083645", - "UPHENO:0086595", - "UPHENO:0069248", - "HP:0000929", - "HP:0011821", - "UBERON:0000061", - "UBERON:0034923", - "UBERON:0034925", - "UBERON:0000075", - "UBERON:0010912", - "UPHENO:0046505", - "UPHENO:0075696", - "HP:0000366", - "UPHENO:0081566", - "UPHENO:0002907", - "UBERON:0000475", - "UBERON:0000062", - "UBERON:0003457", + "GO:0006952", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0004905", + "UPHENO:0001003", + "BFO:0000001", + "UBERON:0000465", ], - "object_label": "Short nasal bridge", + "object_label": "Arthritis", "object_closure_label": [ - "decreased length of anatomical entity in independent continuant", + "Abnormal joint morphology", + "anatomical system", + "material anatomical entity phenotype", "entity", - "subdivision of head", - "body proper", - "craniocervical region", - "skeletal element", - "sense organ", - "head bone", - "abnormal nose morphology", - "abnormal skeletal system morphology", - "abnormal facial skeleton morphology", - "quality", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "snout", - "phenotype", - "Phenotypic abnormality", - "abnormal skeletal system", - "Abnormality of the face", - "material entity", - "skeletal system", - "abnormal craniocervical region morphology", - "abnormal midface morphology", - "Abnormality of the skeletal system", - "Abnormality of the musculoskeletal system", - "abnormal postcranial axial skeleton morphology", - "decreased length of nasal bone", + "anatomical entity", "multicellular organism", "organ system subdivision", - "All", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "organism subdivision", - "organ", - "decreased length of anatomical entity", - "abnormal anatomical entity", - "decreased size of the nasal bone", - "Abnormal skull morphology", - "Abnormal facial skeleton morphology", - "independent continuant", - "multicellular anatomical structure", - "dermatocranium", - "Abnormal nasal skeleton morphology", - "Abnormal nasal bone morphology", - "decreased size of the anatomical entity in the independent continuant", - "anatomical structure", - "disconnected anatomical group", + "multi organ part structure", + "skeletal joint", + "Abnormality of the skeletal system", + "process", "anatomical collection", - "entire sense organ system", - "musculoskeletal system", - "head", - "midface", + "inflammatory response", + "skeletal system", + "multicellular organism morphology phenotype", + "Arthritis", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", "Abnormal skeletal morphology", - "decreased length of facial bone", - "material anatomical entity", - "facial bone", - "facial skeleton", - "dermal bone", - "face", - "bone element", - "olfactory organ", - "axial skeletal system", - "cranial skeletal system", - "Abnormality of head or neck", - "Short nasal bridge", - "abnormal head morphology", - "abnormal face", - "Abnormality of the nose", - "abnormal anatomical entity morphology", - "continuant", - "abnormal head", - "Abnormal midface morphology", - "non-connected functional system", - "skeleton", - "abnormal snout morphology", + "phenotypic effect", + "articular system", + "taxon specific phenotype", + "anatomical structure", + "anatomical entity morphology phenotype", + "defense response", + "phenotype", "continuant", - "entity", - "lateral structure", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "primary subdivision of cranial skeletal system", - "primary subdivision of skull", - "postcranial axial skeletal system", - "axial skeleton plus cranial skeleton", - "dermal skeleton", - "postcranial axial skeleton", - "abnormal nasal skeleton morphology", - "abnormal face morphology", - "abnormal craniocervical region", - "phenotype by ontology source", - "abnormal nose morphology", - "nasal bone", - "subdivision of skeletal system", - "subdivision of skeleton", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity", - "abnormal anatomical entity length", - "skull", - "neural crest-derived structure", - "nasal skeleton", - "dermal skeletal element", - "nose", - "membrane bone", - "intramembranous bone", - "bone of craniocervical region", - "flat bone", - "nasal bridge", - "decreased size of the anatomical entity", + "musculature phenotype", + "anatomical structure phenotype", + "quality", + "skeletal joint morphology phenotype", "Phenotypic abnormality", - "abnormal nasal bridge morphology", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical system", - "sensory system", - "Abnormal nasal morphology", - "abnormal nasal bone morphology", - "abnormal head bone morphology", - "Abnormality of the head", - "abnormal phenotype by ontology source", - "Abnormal nasal bridge morphology", - "abnormal size of anatomical entity", - "Abnormal axial skeleton morphology", - "abnormal skull morphology", - "abnormal nose", - "anatomical entity", + "response to stimulus", + "multicellular anatomical structure", + "specifically dependent continuant", + "anatomical entity phenotype", + "entity", + "occurrent", + "material anatomical entity", + "All", + "biological_process", + "material entity", + "musculoskeletal system", + "multicellular anatomical structure phenotype", + "independent continuant", + "musculature of body", + "musculature", + "articulation", + "skeletal system phenotype", + "skeletal system morphology phenotype", + "continuant", + "response to stress", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, - "evidence_count": 2, + "evidence_count": 1, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000269"], - "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "has_count": 2, - "has_total": 2, - "has_percentage": 100.0, - "has_quotient": 1.0, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0003194", + "has_evidence": ["ECO:0000304"], + "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001369", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:15236414"], - "publications_links": [{"id": "PMID:15236414", "url": "http://identifiers.org/pubmed/15236414"}], - "frequency_qualifier": None, + "publications": None, + "publications_links": [], + "frequency_qualifier": "HP:0040284", "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, }, { - "id": "uuid:1ccfb83e-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c66e15aa-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "original_subject": "OMIM:253280", + "subject": "MONDO:0013711", + "original_subject": "Orphanet:397744", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939", + "MONDO:0002545", ], - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", + "disease", + "hereditary neuromuscular disease", "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease", + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0000639", + "object": "HP:0007340", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "HP:0000234", - "UPHENO:0078736", - "HP:0031703", - "UPHENO:0049587", - "NBO:0000338", - "GO:0050882", - "GO:0050905", - "UBERON:0002105", - "UBERON:0002104", - "NBO:0000416", - "HP:0031704", - "HP:0012547", - "UPHENO:0001003", - "HP:0000639", - "HP:0012638", - "UBERON:0001444", - "UBERON:0013702", - "UBERON:0007811", - "UBERON:0000020", - "NBO:0000417", - "UPHENO:0003044", - "UPHENO:0080602", - "UPHENO:0076692", - "BFO:0000003", - "NBO:0000313", - "GO:0050881", - "GO:0050877", - "UBERON:0034921", - "UBERON:0001846", - "UBERON:0001016", - "UPHENO:0078622", - "UPHENO:0049586", - "UPHENO:0079826", - "UPHENO:0004523", + "HP:0001324", + "HP:0003690", + "UPHENO:0002976", + "UBERON:0001062", + "UBERON:0004480", + "UPHENO:0080575", + "UPHENO:0081581", + "HP:0033127", "BFO:0000001", - "UBERON:0000061", - "UBERON:0000019", - "UBERON:0001690", - "UBERON:0010230", - "UBERON:0000153", - "UBERON:0011676", - "UBERON:0013701", - "UPHENO:0001001", - "HP:0012373", - "UPHENO:0080601", - "UPHENO:0002240", - "GO:0050896", - "GO:0032501", - "UBERON:0015203", - "NBO:0000001", - "NBO:0000403", - "NBO:0000411", - "UPHENO:0075997", - "HP:0000598", - "HP:0007670", + "UBERON:0011216", + "UPHENO:0002530", + "UBERON:0004708", + "UBERON:0000062", "UBERON:0000468", - "HP:0000315", - "HP:0000001", - "UPHENO:0050613", - "UPHENO:0079839", - "UPHENO:0003020", - "UPHENO:0079828", - "HP:0011446", - "PATO:0000001", - "UPHENO:0086589", - "UPHENO:0001002", - "HP:0000271", - "HP:0000707", - "UBERON:0001062", - "UPHENO:0080585", - "HP:0000152", - "UPHENO:0087907", - "UPHENO:0002910", - "HP:0000478", + "UBERON:0007271", + "UBERON:0014792", + "UPHENO:0002861", "HP:0000118", + "UBERON:0000061", + "UBERON:0010709", + "UPHENO:0002526", + "UPHENO:0002945", + "UPHENO:0080555", "UPHENO:0002536", - "UBERON:0015212", - "UBERON:0010314", - "UBERON:0000970", - "BFO:0000002", + "HP:0011804", + "UBERON:0000467", + "UBERON:0001630", "BFO:0000002", - "HP:0100022", - "UPHENO:0002844", - "HP:0011389", - "HP:0000496", - "UPHENO:0079833", - "BFO:0000015", - "BFO:0000004", - "UBERON:0004121", + "UPHENO:0080556", "UBERON:0010000", - "UBERON:0004456", - "NBO:0000388", - "NBO:0000444", - "UBERON:0000033", - "UBERON:0004088", - "UBERON:0001456", - "UPHENO:0049622", + "UPHENO:0001001", "BFO:0000020", - "UPHENO:0002433", + "UBERON:0010890", + "UPHENO:0003047", + "HP:0003011", + "UPHENO:0002308", + "UPHENO:0002525", + "UBERON:0005090", + "UBERON:0018254", + "UBERON:0002101", + "UBERON:0000026", + "UPHENO:0002359", + "UPHENO:0003022", + "BFO:0000002", + "HP:0000001", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0002385", + "UPHENO:0002830", + "UPHENO:0003045", + "UPHENO:0002897", + "UPHENO:0001003", "BFO:0000001", - "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0002219", - "HP:0001751", - "HP:0000359", - "UPHENO:0079837", - "UBERON:0001032", - "UPHENO:0002903", - "UPHENO:0002764", - "HP:0031826", - "UPHENO:0002332", - "UPHENO:0050606", - "GO:0008150", + "BFO:0000004", + "UBERON:0010707", + "UBERON:0014892", + "UPHENO:0002320", + "UPHENO:0001002", + "UBERON:0015212", + "HP:0009127", + "UPHENO:0002386", + "UPHENO:0002568", + "UPHENO:0002647", + "HP:0011805", + "PATO:0000001", "BFO:0000040", - "UBERON:0000467", - "NBO:0000389", - "UBERON:0000047", - "UPHENO:0082875", - "UPHENO:0076730", - "HP:0000708", - "UBERON:0034923", - "UPHENO:0075696", - "UPHENO:0080581", - "GO:0050879", - "GO:0007610", - "GO:0003008", "UBERON:0000475", - "UBERON:0000062", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0076710", + "UPHENO:0002267", + "UPHENO:0002926", + "HP:0040064", + "HP:0007340", + "UPHENO:0082875", + "UBERON:0000465", + "PR:000050567", + "RO:0002577", ], - "object_label": "Nystagmus", + "object_label": "Lower limb muscle weakness", "object_closure_label": [ - "abnormal voluntary movement behavior", - "abnormal response to stimulus", - "specifically dependent continuant", - "abnormality of nervous system physiology", - "abnormal behavior process", - "abnormal nervous system", + "Abnormality of the musculature of the limbs", + "paired limb/fin phenotype", + "decreased anatomical entity strength", + "organ physiology phenotype", + "entity", + "anatomical system", + "muscle organ", + "material anatomical entity phenotype", + "multicellular anatomical structure phenotype", + "musculature of limb phenotype", + "anatomical entity", + "lateral structure", + "musculature of limb", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "limb phenotype", + "paired limb/fin", + "organ system subdivision", + "pelvic complex muscle", + "Muscle weakness", + "Limb muscle weakness", + "entity", + "skeletal muscle organ, vertebrate", + "decreased pelvic complex muscle strength", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormal skeletal muscle morphology", + "Abnormality of the musculature", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "skeletal musculature", + "limb", + "appendage musculature phenotype", + "skeletal muscle organ, vertebrate phenotype", "anatomical structure", - "subdivision of head", - "body proper", - "craniocervical region", - "sense organ", + "anatomical entity physiology phenotype", + "anatomical entity morphology phenotype", "quality", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "physiologic nystagmus", - "phenotype", - "Phenotypic abnormality", - "Abnormality of the face", - "Abnormality of the nervous system", - "biological_process", - "material entity", - "behavior process", - "musculoskeletal movement", - "nervous system process", - "multi organ part structure", - "internal ear", - "nervous system", - "abnormal craniocervical region morphology", - "Abnormality of the ear", - "Abnormal vestibulo-ocular reflex", - "multicellular organism", - "Abnormality of the orbital region", - "All", - "Abnormality of the inner ear", - "abnormal vestibulo-ocular reflex", - "occurrent", - "organism subdivision", + "Lower limb muscle weakness", "organ", - "vestibulo-auditory system", - "visual system", - "abnormal anatomical entity", - "abnormal ear morphology", - "Atypical behavior", - "process", - "independent continuant", - "ectoderm-derived structure", - "multicellular anatomical structure", - "abnormal behavior", - "abnormal musculoskeletal movement", - "abnormal physiologic nystagmus", - "abnormal eyeball of camera-type eye", - "abnormal eye movement", - "Abnormality of mental function", - "Abnormal nervous system physiology", - "disconnected anatomical group", - "entire sense organ system", - "involuntary movement behavior", - "eye movement", - "head", - "orbital region", - "face", - "abnormal internal ear", - "abnormal vestibulo-ocular reflex", - "abnormality of anatomical entity physiology", - "abnormal voluntary musculoskeletal movement", - "abnormal biological_process", - "material anatomical entity", - "eye", - "abnormal behavior process", - "Abnormality of head or neck", - "abnormal head morphology", - "abnormal face", - "Abnormality of the eye", - "abnormal eye movement", - "abnormal anatomical entity morphology", + "multicellular organism", + "phenotype", "continuant", - "Abnormality of movement", - "abnormal head", - "Abnormal eye physiology", - "abnormal physiologic nystagmus", - "abnormality of ear physiology", - "response to stimulus", - "multicellular organismal process", - "non-connected functional system", - "abnormal ear", - "Abnormality of eye movement", - "lateral structure", - "structure with developmental contribution from neural crest", - "abnormal orbital region", - "abnormal craniocervical region", - "Abnormal reflex", - "phenotype by ontology source", - "Nystagmus", - "entity", - "multicellular organismal movement", - "behavior", - "system process", - "kinesthetic behavior", - "voluntary musculoskeletal movement", - "neuromuscular process", - "Abnormal ear physiology", - "Abnormal involuntary eye movements", - "Functional abnormality of the inner ear", - "abnormal anatomical entity", - "camera-type eye", - "ear", - "eyeball of camera-type eye", - "body part movement", - "voluntary movement behavior", - "reflexive behavior", - "simple eye", + "musculature phenotype", + "anatomical structure phenotype", + "appendage phenotype", + "pelvic complex", "Phenotypic abnormality", - "anatomical system", - "sensory system", - "abnormality of anatomical entity physiology", + "Abnormal muscle physiology", + "multicellular anatomical structure", + "specifically dependent continuant", + "taxon specific phenotype", "continuant", - "Abnormality of the head", - "abnormality of internal ear physiology", - "Abnormal ear morphology", - "abnormal voluntary movement behavior", - "entity", - "vestibulo-ocular reflex", - "abnormal phenotype by ontology source", - "abnormality of camera-type eye physiology", - "Abnormal vestibular function", - "anatomical entity", - "cranial nerve related reflex", + "material anatomical entity", + "protein-containing material entity", + "system", + "appendage musculature", + "musculature of pelvic complex", + "All", + "muscle organ morphology phenotype", + "material anatomical entity physiology phenotype", + "organism subdivision phenotype", + "Abnormality of limbs", + "material entity", + "appendage", + "muscle structure phenotype", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "independent continuant", + "organism subdivision", + "musculature of body", + "musculature", + "decreased muscle organ strength", + "organ phenotype", + "anatomical entity phenotype", + "appendage girdle complex", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": None, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"], + "negated": False, "pathway": None, "evidence_count": 1, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000501"], - "has_evidence_links": [{"id": "ECO:0000501", "url": "http://purl.obolibrary.org/obo/ECO_0000501"}], + "has_evidence": ["ECO:0000304"], + "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000639", + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0007340", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], + "publications": None, "publications_links": [], - "frequency_qualifier": None, + "frequency_qualifier": "HP:0040282", "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, - "qualifiers": [], + "qualifiers": None, "qualifiers_label": None, "qualifiers_namespace": None, "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": None, + "qualifiers_closure_label": None, + "qualifier": None, "qualifier_label": None, "qualifier_namespace": None, "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": None, + "qualifier_closure_label": None, "frequency_qualifier_label": None, "frequency_qualifier_namespace": None, "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": None, + "frequency_qualifier_closure_label": None, "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": None, + "onset_qualifier_closure_label": None, "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": None, + "sex_qualifier_closure_label": None, "stage_qualifier_label": None, "stage_qualifier_namespace": None, "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": None, + "stage_qualifier_closure_label": None, + "disease_context_qualifier": None, + "disease_context_qualifier_label": None, + "disease_context_qualifier_namespace": None, + "disease_context_qualifier_category": None, + "disease_context_qualifier_closure": None, + "disease_context_qualifier_closure_label": None, }, ], } diff --git a/backend/tests/fixtures/associations_compact.py b/backend/tests/fixtures/associations_compact.py index 0f73740e6..fb8fd4797 100644 --- a/backend/tests/fixtures/associations_compact.py +++ b/backend/tests/fixtures/associations_compact.py @@ -6,187 +6,187 @@ def associations_compact(): return { "limit": 20, "offset": 0, - "total": 5013, + "total": 5116, "items": [ { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0001290", - "object_label": "Generalized hypotonia", - "negated": None, + "object": "HP:0000762", + "object_label": "Decreased nerve conduction velocity", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0000545", - "object_label": "Myopia", - "negated": None, + "object": "HP:0001265", + "object_label": "Hyporeflexia", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0031318", - "object_label": "Myofiber disarray", - "negated": None, + "object": "HP:0001609", + "object_label": "Hoarse voice", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0003687", - "object_label": "Centrally nucleated skeletal muscle fibers", - "negated": None, + "object": "HP:0003198", + "object_label": "Myopathy", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0000365", - "object_label": "Hearing impairment", - "negated": None, + "object": "HP:0003458", + "object_label": "EMG: myopathic abnormalities", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0003691", - "object_label": "Scapular winging", - "negated": None, + "object": "HP:0003557", + "object_label": "Increased variability in muscle fiber diameter", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0012548", - "object_label": "Fatty replacement of skeletal muscle", - "negated": None, + "object": "HP:0008180", + "object_label": "Mildly elevated creatine kinase", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0009053", - "object_label": "Distal lower limb muscle weakness", - "negated": None, + "object": "HP:0008619", + "object_label": "Bilateral sensorineural hearing impairment", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0008994", - "object_label": "Proximal muscle weakness in lower limbs", - "negated": None, + "object": "HP:0009063", + "object_label": "Progressive distal muscle weakness", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0003805", - "object_label": "Rimmed vacuoles", - "negated": None, + "object": "HP:0009830", + "object_label": "Peripheral neuropathy", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0001638", - "object_label": "Cardiomyopathy", - "negated": None, + "object": "HP:0010219", + "object_label": "Structural foot deformity", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0008997", - "object_label": "Proximal muscle weakness in upper limbs", - "negated": None, + "object": "HP:0012548", + "object_label": "Fatty replacement of skeletal muscle", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0024771", - "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0003557", - "object_label": "Increased variability in muscle fiber diameter", - "negated": None, + "object": "HP:0001284", + "object_label": "Areflexia", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0007759", - "object_label": "Opacification of the corneal stroma", - "negated": None, + "object": "HP:0001337", + "object_label": "Tremor", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0000486", - "object_label": "Strabismus", - "negated": None, + "object": "HP:0003701", + "object_label": "Proximal muscle weakness", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0000485", - "object_label": "Megalocornea", - "negated": None, + "object": "HP:0001250", + "object_label": "Seizure", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0002187", - "object_label": "Intellectual disability, profound", - "negated": None, + "object": "HP:0001605", + "object_label": "Vocal cord paralysis", + "negated": True, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0006829", - "object_label": "Severe muscular hypotonia", - "negated": None, + "object": "HP:0002015", + "object_label": "Dysphagia", + "negated": True, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0003194", - "object_label": "Short nasal bridge", - "negated": None, + "object": "HP:0001369", + "object_label": "Arthritis", + "negated": False, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0000639", - "object_label": "Nystagmus", - "negated": None, + "object": "HP:0007340", + "object_label": "Lower limb muscle weakness", + "negated": False, }, ], } diff --git a/backend/tests/fixtures/autocomplete.py b/backend/tests/fixtures/autocomplete.py index e5b219e73..8bb40e69d 100644 --- a/backend/tests/fixtures/autocomplete.py +++ b/backend/tests/fixtures/autocomplete.py @@ -6,7 +6,7 @@ def autocomplete(): return { "limit": 10, "offset": 0, - "total": 320, + "total": 326, "items": [ { "id": "MONDO:0009215", @@ -15,7 +15,15 @@ def autocomplete(): "full_name": None, "deprecated": None, "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.", - "xref": ["DOID:0111095", "GARD:15170", "GTR:AN1051558", "NCIT:C125702", "OMIM:227650", "UMLS:C3469521"], + "xref": [ + "DOID:0111095", + "GARD:15170", + "GTR:AN1051558", + "MEDGEN:483333", + "NCIT:C125702", + "OMIM:227650", + "UMLS:C3469521", + ], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -42,14 +50,7 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", "HP:0001875", - "HP:0009777", - "HP:0001249", - "HP:0000252", - "HP:0001627", - "HP:0000957", - "HP:0000815", "HP:0001017", "HP:0000104", "HP:0003974", @@ -57,35 +58,35 @@ def autocomplete(): "HP:0000028", "HP:0001873", "HP:0009778", + "HP:0009777", + "HP:0001000", + "HP:0001249", + "HP:0000086", + "HP:0000252", + "HP:0000815", "HP:0001896", "HP:0000568", "HP:0001518", "HP:0003221", - "HP:0001000", "HP:0009943", + "HP:0001627", "HP:0000978", "HP:0030680", "HP:0001903", + "HP:0000957", "HP:0001909", "HP:0012210", "HP:0000081", "HP:0000085", + "HP:0003251", "HP:0004322", "HP:0000486", "HP:0000365", "HP:0003214", "HP:0003213", - "HP:0003251", ], "has_phenotype_label": [ - "Ectopic kidney", "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", "Anemic pallor", "Renal agenesis", "Absent radius", @@ -93,126 +94,168 @@ def autocomplete(): "Cryptorchidism", "Thrombocytopenia", "Short thumb", + "Absent thumb", + "Abnormality of skin pigmentation", + "Intellectual disability", + "Ectopic kidney", + "Microcephaly", + "Hypergonadotropic hypogonadism", "Reticulocytopenia", "Microphthalmia", "Small for gestational age", "Chromosomal breakage induced by crosslinking agents", - "Abnormality of skin pigmentation", "Complete duplication of thumb phalanx", + "Abnormal heart morphology", "Bruising susceptibility", - "Abnormality of cardiovascular system morphology", + "Abnormal cardiovascular system morphology", "Anemia", + "Cafe-au-lait spot", "Leukemia", "Abnormal renal morphology", "Duplicated collecting system", "Horseshoe kidney", + "Male infertility", "Short stature", "Strabismus", "Hearing impairment", "Prolonged G2 phase of cell cycle", "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Male infertility", ], "has_phenotype_closure": [ - "GO:0051716", - "GO:0006950", - "HP:0003213", "UPHENO:0051124", - "HP:0003254", + "GO:0046483", + "UPHENO:0050116", + "UPHENO:0049586", "UPHENO:0049964", - "GO:0007049", + "GO:0044238", + "GO:0006950", + "GO:0051716", + "HP:0003213", + "UPHENO:0050121", "GO:0051319", - "UPHENO:0050625", - "HP:0000364", + "GO:0007049", + "HP:0003214", + "UPHENO:0052160", + "UPHENO:0050620", "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", + "GO:0009987", + "HP:0000365", + "UPHENO:0005596", "UBERON:0002105", - "GO:0007610", - "HP:0000708", + "UPHENO:0052159", + "UPHENO:0052970", + "UPHENO:0050625", + "UPHENO:0049699", + "UPHENO:0049703", + "GO:0006807", + "HP:0031704", + "UPHENO:0049989", + "UPHENO:0005512", + "GO:0050954", + "UPHENO:0005518", + "UPHENO:0050106", "HP:0000549", - "HP:0000486", - "UPHENO:0049622", + "HP:0000708", "NBO:0000444", - "HP:0000496", - "UBERON:0010222", - "UPHENO:0080585", - "UBERON:0006800", - "BFO:0000141", + "UPHENO:0002219", + "NBO:0000338", "UPHENO:0079828", + "GO:0007610", + "UPHENO:0002211", + "HP:0000496", "HP:0011018", "UBERON:0000015", - "GO:0050896", - "UPHENO:0049586", - "NBO:0000338", - "UBERON:0000466", - "UPHENO:0081424", - "UPHENO:0080351", + "UBERON:0010222", + "BFO:0000141", + "HP:0000486", "UPHENO:0000543", - "UPHENO:0081423", + "HP:0001510", + "HP:0004322", + "UPHENO:0080351", "UPHENO:0075159", + "UPHENO:0041226", + "UPHENO:0041465", "GO:0007600", "UPHENO:0041075", - "HP:0000085", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", "UPHENO:0041629", - "HP:0000081", "UPHENO:0075787", - "HP:0002664", - "HP:0011793", + "UPHENO:3000003", "HP:0001909", - "HP:0004377", + "HP:0002664", + "UPHENO:0054970", + "UPHENO:0050234", + "UPHENO:0080662", + "UPHENO:0054957", "HP:0002597", - "HP:0001892", - "HP:0011029", - "UPHENO:0002678", - "UBERON:0000477", - "HP:0000978", - "UPHENO:0051097", "HP:0001933", + "GO:0071704", + "MPATH:105", + "UPHENO:0002678", "UBERON:0007798", - "GO:0003013", - "GO:0008015", - "HP:0009943", + "MPATH:603", + "MPATH:119", + "GO:0006139", + "HP:0011354", + "UBERON:0000477", + "MPATH:0", + "HP:0001892", + "MPATH:1000", + "UBERON:0000948", + "HP:0001627", + "HP:0030680", + "HP:0001626", + "UBERON:0001009", + "UPHENO:0050019", + "UBERON:0005181", + "UBERON:0005178", + "UBERON:0015063", + "UBERON:5106048", + "UBERON:5102389", + "UBERON:0010688", + "UBERON:0011818", "HP:0011314", - "HP:0009602", - "UPHENO:0087369", - "HP:0009942", - "UBERON:0003221", - "UBERON:0012357", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0021800", - "UPHENO:0084447", - "GO:0022403", - "UBERON:0004249", - "UBERON:5106048", - "UBERON:5102389", - "UBERON:0010688", + "GO:0090304", + "UBERON:0012150", + "HP:0009942", + "HP:0009943", + "UBERON:0003221", + "UBERON:0012357", "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0080581", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0000541", - "UBERON:0001436", - "GO:0010468", + "UPHENO:0049757", + "UPHENO:0049775", + "UPHENO:0050784", + "HP:0009602", + "UPHENO:0050126", + "HP:0001939", "NBO:0000313", "GO:0010558", "GO:0031327", - "GO:0006325", - "UPHENO:0049700", + "UBERON:0000915", + "UPHENO:0050065", + "UPHENO:0049904", + "GO:0050794", + "GO:0019222", + "GO:0008152", + "GO:0051325", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UPHENO:0050025", + "UPHENO:0049622", + "UPHENO:0050435", + "UBERON:0000466", + "UPHENO:0049868", + "GO:0042592", + "UPHENO:0049743", + "UPHENO:0050063", + "UBERON:0002075", + "GO:0031049", + "GO:0031052", "GO:0010556", "GO:0031326", "GO:0009890", @@ -220,1468 +263,1752 @@ def autocomplete(): "UBERON:0005897", "GO:0010605", "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0008152", - "HP:0000365", - "GO:0009987", "GO:0050789", - "GO:0044238", - "HP:0031704", - "GO:0006807", - "GO:0071704", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", - "HP:0001939", - "UPHENO:0050845", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", + "HP:0003221", + "GO:0010629", + "UPHENO:0050040", + "UPHENO:0050778", "UPHENO:0082794", + "UPHENO:0010799", "GO:0040007", - "UPHENO:0049874", - "UPHENO:0010763", + "UPHENO:0010850", + "UPHENO:0054374", "UBERON:0010543", "HP:0001507", - "UPHENO:0054299", - "UBERON:0000047", - "HP:0000568", - "UPHENO:0075219", + "UPHENO:0054304", + "UPHENO:0010808", + "GO:0006974", + "HP:0004323", + "UPHENO:0049874", + "UBERON:0010230", + "UPHENO:0049642", + "UBERON:0001456", "UBERON:0004088", "UBERON:0004456", + "UBERON:0000019", + "HP:0000568", + "HP:0000315", "UPHENO:0069523", - "UPHENO:0080209", - "GO:0033554", - "UBERON:0000970", - "UBERON:0001456", + "HP:0008056", + "HP:0011793", + "UPHENO:0002928", "UPHENO:0087924", - "HP:0100887", "HP:0000478", + "UPHENO:0002866", + "HP:0100887", "UPHENO:0002910", - "UPHENO:0020041", - "HP:0000271", - "HP:0011025", - "HP:0000315", - "UPHENO:0087472", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", - "UBERON:0000020", - "HP:0004312", + "GO:0033554", + "UBERON:0000970", + "HP:0000978", + "UPHENO:3000007", + "UPHENO:0069161", + "UPHENO:0075219", "HP:0001896", + "UPHENO:0052178", + "UPHENO:0005517", + "UPHENO:0085263", "UPHENO:0086002", + "UPHENO:0088148", + "HP:0001877", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "HP:0004312", "UPHENO:0049588", "CL:0000558", - "UPHENO:0046505", - "UPHENO:0088186", - "HP:0009381", - "UPHENO:0002433", - "CL:0000233", - "UPHENO:0026506", - "UBERON:0015061", - "UBERON:0003129", - "UBERON:0010708", - "UBERON:0012139", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "UPHENO:0080352", - "UBERON:0000075", - "HP:0009815", - "CL:0000775", + "HP:0000815", + "UPHENO:0002386", + "UPHENO:0066927", + "UPHENO:0066925", + "HP:0000135", + "UPHENO:0002378", + "UPHENO:0066972", + "UPHENO:0066903", + "HP:0008373", + "GO:0034641", + "UPHENO:0049720", + "HP:0000929", + "UPHENO:0075220", + "UPHENO:0087472", + "UPHENO:0002553", + "UPHENO:0002844", + "UPHENO:0075804", + "HP:0009121", + "UBERON:0000033", + "HP:0000234", + "HP:0000144", + "HP:0001518", + "HP:0100547", + "UBERON:0001017", + "UBERON:0003129", + "HP:0002977", + "UBERON:0007811", + "OBI:0100026", + "HP:0012372", + "HP:0002060", + "NCBITaxon:33154", + "UPHENO:0005433", + "UPHENO:0002746", + "UPHENO:0003001", + "UBERON:0012151", + "HP:0011017", + "NCBITaxon:33208", + "UPHENO:0002430", + "UBERON:0002090", + "UPHENO:0049990", + "UPHENO:0003004", + "HP:0000252", + "UPHENO:0076776", + "NCBITaxon:6072", + "UBERON:0001893", + "UBERON:0001890", + "UPHENO:0087907", + "UBERON:0011138", + "UPHENO:0080200", + "HP:0000957", + "UBERON:0000481", + "NCBITaxon:1", + "UPHENO:0076805", + "UBERON:0000020", + "UPHENO:0003025", + "UBERON:0015025", + "HP:0002011", + "NCBITaxon:2759", + "UPHENO:0087518", + "UPHENO:0076791", + "UPHENO:3000000", + "HP:0040195", + "UPHENO:0053612", + "UPHENO:0050007", + "UPHENO:0053601", + "UPHENO:0053619", + "HP:0000086", + "HP:0012373", + "HP:0100542", + "UPHENO:0002945", + "UPHENO:0002944", + "UBERON:0010741", + "UPHENO:0026010", + "UPHENO:0025166", + "HP:0000707", + "HP:0000240", + "UPHENO:0086635", + "HP:0007400", + "HP:0033127", "NBO:0000001", "UBERON:0034925", "UPHENO:0088176", - "UBERON:0019221", + "UPHENO:0011548", + "UPHENO:0026096", + "HP:0009380", + "UPHENO:0026073", + "UBERON:0003103", + "UPHENO:0009295", + "UBERON:0002513", "GO:0044848", "UBERON:0001460", - "UBERON:0002513", - "UBERON:0011138", - "GO:0022414", - "NCBITaxon:2759", - "UBERON:0006717", - "UPHENO:0001003", - "UPHENO:0076810", - "CL:0000225", - "UBERON:0011582", - "GO:0006996", - "HP:0008678", - "UPHENO:0085263", - "UPHENO:0052178", - "UPHENO:0076727", - "HP:0005927", - "UBERON:0003101", - "UBERON:0002204", - "UPHENO:0080300", - "UPHENO:0009382", + "UPHENO:0025776", + "UPHENO:0002632", + "UPHENO:0011573", + "UPHENO:0085371", + "HP:0001034", + "UPHENO:0011568", "UBERON:0004708", - "UPHENO:0085068", - "UPHENO:0021474", - "UBERON:5001463", + "UPHENO:0025507", + "UPHENO:0076727", + "UPHENO:0011739", + "MPATH:120", + "UPHENO:0049620", + "UBERON:0000990", + "UPHENO:0008703", + "CL:0000766", + "UBERON:0006800", + "UPHENO:0011931", "UPHENO:0084448", - "UBERON:0010363", - "HP:0002977", - "HP:0001167", - "HP:0040064", - "HP:0045060", - "UPHENO:0086633", - "HP:0009777", - "UPHENO:0026183", - "UPHENO:0002905", - "UPHENO:0076723", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0086172", - "UPHENO:0081435", - "PATO:0000001", - "UBERON:0019231", - "UPHENO:0002844", - "BFO:0000015", - "UPHENO:0049587", - "UBERON:0000026", - "GO:0043933", - "UPHENO:0002896", - "UBERON:0000153", + "UPHENO:0068914", + "UBERON:0001008", + "UPHENO:0026506", + "UPHENO:0002949", + "UPHENO:0026309", + "CL:0000233", + "UPHENO:0002301", + "UPHENO:0026097", + "UPHENO:0002433", + "UPHENO:0025585", + "UBERON:0004535", + "HP:0009142", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0000916", + "UBERON:0015212", + "UPHENO:0046552", + "UPHENO:0008827", + "UPHENO:0069236", + "HP:0008678", + "UBERON:0011582", + "UPHENO:0080187", + "UBERON:0013702", + "UPHENO:0012312", + "HP:0012145", + "UPHENO:0086589", + "UPHENO:0025187", + "UPHENO:0002754", + "UBERON:0002104", + "HP:0006503", + "UPHENO:0069605", + "UPHENO:0075997", + "UBERON:0002371", + "GO:0032501", + "UBERON:0013701", + "UPHENO:0003093", + "UPHENO:0002586", + "HP:0011446", + "HP:0003254", + "UPHENO:0011817", "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", + "UPHENO:0086956", + "UPHENO:0026317", "HP:0009778", - "UPHENO:0080325", - "UPHENO:0002642", - "UBERON:0015203", - "UPHENO:0049952", - "HP:0040068", - "UPHENO:0002708", - "UBERON:0012141", + "HP:0006496", + "UPHENO:0050008", + "NCBITaxon:131567", + "HP:0001017", + "UBERON:0002091", + "HP:0004325", + "UPHENO:0026504", + "HP:0009998", + "UPHENO:0075902", + "HP:0001881", + "UBERON:0004053", + "UPHENO:0026227", + "CL:0002242", + "UPHENO:0025508", + "UPHENO:3000004", + "UPHENO:0049873", + "UPHENO:0011572", + "UPHENO:0003088", + "UBERON:0005177", + "UBERON:0005173", + "UPHENO:0053644", + "UPHENO:0009163", + "UPHENO:0002750", + "UPHENO:0002905", + "HP:0011297", + "UPHENO:0026808", + "UPHENO:0011563", + "UPHENO:0026023", + "UPHENO:0046445", + "UPHENO:0086633", + "CL:0001035", + "UPHENO:0008825", + "UPHENO:0002267", + "UPHENO:0009209", + "UPHENO:0002593", + "CL:0002422", + "CL:0000763", + "UBERON:0010000", + "HP:0000818", + "UPHENO:0063787", + "BFO:0000040", + "UPHENO:0003094", + "HP:0032309", + "UBERON:0002113", + "UPHENO:0049652", + "UPHENO:0066913", + "UPHENO:0012274", + "UPHENO:0085354", + "UPHENO:0076739", + "UBERON:0002529", + "UPHENO:0003056", + "CL:0000775", + "HP:0009815", + "UPHENO:0080352", + "UBERON:0000075", + "CL:0000232", + "UPHENO:0004757", + "UPHENO:0011531", + "UBERON:0008785", + "CL:0000255", + "UBERON:0000479", "UPHENO:0082761", "CL:0000738", - "HP:0000027", - "UPHENO:0086700", - "UPHENO:0086019", - "HP:0012759", - "UBERON:0002097", - "UBERON:0003135", - "UBERON:0012140", - "UBERON:0005451", - "HP:0009822", - "UBERON:0002428", - "UPHENO:0054957", - "UBERON:0007272", - "GO:0050890", + "CL:0000081", + "UPHENO:0052161", + "UPHENO:0002554", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0026600", + "UPHENO:0046528", + "UBERON:0010708", + "UPHENO:0066902", + "UPHENO:0026098", + "UPHENO:0053647", "UBERON:0000073", - "GO:0034641", - "HP:0000929", - "HP:0010461", - "UPHENO:0053644", - "UBERON:8450002", - "UPHENO:0084763", - "HP:0010935", - "UPHENO:0088148", - "UPHENO:0049940", - "UBERON:0003103", - "UBERON:5006048", - "UBERON:0003133", + "GO:0050890", + "UPHENO:0081423", + "UPHENO:0009011", "UBERON:0005881", "UBERON:0001062", - "UPHENO:0088321", - "UPHENO:0049367", - "UPHENO:0075997", - "UBERON:0002371", - "UPHENO:0049671", - "HP:0009601", - "HP:0012373", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0002803", - "UBERON:0005172", - "CL:0001035", - "BFO:0000040", - "UPHENO:0084766", - "UBERON:0015212", - "UPHENO:0059829", - "HP:0011991", - "UBERON:0011250", - "UPHENO:0086176", - "UBERON:0010758", - "UPHENO:0087846", - "UPHENO:0085195", - "UBERON:0010000", - "UBERON:0002390", - "BFO:0000004", - "UBERON:5002544", - "UPHENO:0087510", + "GO:0050896", + "UPHENO:0046483", + "HP:0009777", "GO:0006281", "BFO:0000002", - "HP:0012639", - "UPHENO:0085984", - "HP:0020047", - "GO:0007276", - "HP:0001874", - "UPHENO:0076692", + "UPHENO:0053559", + "UPHENO:0025553", "UPHENO:0002536", - "UBERON:0012151", - "HP:0011017", - "NCBITaxon:33208", - "HP:0009998", - "GO:0016043", - "UPHENO:0015280", - "UPHENO:0075902", - "HP:0001881", - "UBERON:0002049", - "UBERON:0001016", - "HP:0011446", - "UBERON:0005173", - "UBERON:0005177", - "HP:0005922", - "UBERON:0000467", - "UPHENO:0002903", - "CL:0002092", - "UPHENO:0081466", - "UPHENO:0002406", - "UBERON:0001444", - "UPHENO:0018390", - "UBERON:0002193", - "HP:0000077", - "UBERON:0002199", - "UBERON:0005178", - "UPHENO:0049701", - "UBERON:0001008", - "UBERON:0011249", - "UPHENO:0001002", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002371", - "UBERON:0008785", - "CL:0000255", - "UBERON:0002470", - "UPHENO:0075696", - "HP:0011842", - "GO:0043170", - "HP:0011961", - "UPHENO:0077426", - "HP:0009997", - "HP:0001875", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002101", + "UPHENO:0011536", "HP:0000152", + "UPHENO:0009366", + "UPHENO:0002568", + "UPHENO:0026630", + "UBERON:0015061", + "HP:0001249", + "UPHENO:0002861", + "UPHENO:0076779", + "UBERON:0004120", + "HP:0001903", + "UPHENO:0003116", + "UPHENO:0004459", + "UBERON:0002428", + "UPHENO:0069064", + "HP:0001874", + "UBERON:0011584", + "UBERON:0000026", "GO:0048523", "HP:0000079", "UPHENO:0026128", - "UPHENO:0085330", - "UPHENO:0076703", - "HP:0003974", - "UBERON:0004120", - "UPHENO:0076779", - "UPHENO:0020950", - "UPHENO:0085344", - "UPHENO:0088335", - "GO:0032501", - "UBERON:0013701", - "UBERON:0002398", - "UBERON:0009569", - "CL:0000081", - "UPHENO:0002598", - "UPHENO:0002240", - "UBERON:0004765", - "UPHENO:0053588", - "UPHENO:0063722", - "HP:0002817", - "UPHENO:0001001", - "UPHENO:0087547", - "CL:0002422", - "CL:0000763", - "UBERON:0008962", - "HP:0012210", - "UBERON:0001463", - "HP:0001877", - "UBERON:0002389", - "UPHENO:0087349", - "UBERON:0000468", - "HP:0000001", - "UPHENO:0074584", - "UBERON:0001442", - "HP:0012638", - "UPHENO:0079876", - "UPHENO:0053580", - "UBERON:0011143", - "UBERON:0000062", + "UBERON:0007100", + "UPHENO:0005016", + "UBERON:0001032", + "UBERON:0002616", + "HP:0012443", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002101", + "GO:0022403", + "UBERON:0004249", + "UPHENO:0025546", + "UPHENO:0025509", + "UPHENO:0010795", + "UPHENO:0027014", + "HP:0009997", + "HP:0001875", + "UPHENO:0025547", + "HP:0025354", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "UBERON:0002097", + "GO:0065007", + "UPHENO:0025855", + "UBERON:0002417", "UPHENO:0080099", "CL:0000219", - "UPHENO:0085371", - "HP:0025354", - "UBERON:0000465", - "CL:0000988", - "HP:0012372", - "HP:0002060", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0012475", - "UPHENO:0002880", - "HP:0000144", - "HP:0001518", - "HP:0100547", - "HP:0032309", + "HP:0009823", + "UBERON:0000062", + "HP:0000364", + "UPHENO:0009356", + "UPHENO:0002976", + "UPHENO:0002548", + "HP:0020047", + "UBERON:0002193", + "HP:0000077", + "UBERON:0002199", + "UPHENO:0026980", + "UPHENO:0008593", + "UPHENO:0025808", + "HP:0002715", + "CL:0000151", + "UPHENO:0002963", + "HP:0011991", + "UPHENO:0026507", + "UBERON:0011143", + "UPHENO:0002902", + "HP:0012759", + "UPHENO:0002816", + "UPHENO:0009129", + "UPHENO:0053580", + "UPHENO:0009399", + "HP:0025461", + "UPHENO:0053566", + "UBERON:0000383", + "UPHENO:0008523", + "UPHENO:0003095", + "HP:0000081", + "UPHENO:0053632", + "HP:0009822", + "UPHENO:0025497", + "HP:0011121", + "UPHENO:0063722", "UPHENO:0087427", - "CL:0002242", - "UPHENO:0085405", - "UPHENO:0078606", - "HP:0006265", - "UPHENO:0087123", - "UPHENO:0087802", + "GO:1901360", + "UPHENO:0025211", + "HP:0000980", + "UBERON:0000061", + "UPHENO:0076675", + "UBERON:0002100", + "UBERON:0000467", + "UPHENO:0002240", + "UPHENO:0053588", + "UBERON:0004765", + "UPHENO:0002903", + "UPHENO:0077391", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0002360", + "UBERON:0011216", + "HP:0010974", + 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"UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "UPHENO:0046750", + "UPHENO:0049671", + "HP:0009601", "UPHENO:0008668", "UPHENO:0068971", + "CL:0000225", + "UPHENO:0046741", + "UBERON:0002544", + "UPHENO:0026308", + "UBERON:0003133", + "UBERON:5006048", + "UBERON:5002389", + "UPHENO:0025845", + "UPHENO:0075195", + "UPHENO:0002352", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0046411", + "UPHENO:0001002", + "UPHENO:0012308", + "UPHENO:0008548", + "HP:0000085", + "UPHENO:0026108", + "UPHENO:0002576", + "BFO:0000003", + "GO:0043473", + "UPHENO:0049587", + "BFO:0000015", + "UPHENO:0027017", + "HP:0012638", + "HP:0011927", + "GO:0050877", + "UBERON:0002049", + "UPHENO:0011533", + "UBERON:0001016", + "UPHENO:0002269", ], "has_phenotype_closure_label": [ - "Decreased fertility in males", - "Decreased fertility", - "abnormal response to stress", - "DNA repair", "response to stress", - "abnormal cellular response to stress", - "abnormal DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Abnormality of the cell cycle", - "G2 phase", + "Abnormality of DNA repair", + "response to stimulus", + "DNA repair", + "DNA damage response phenotype", + "nucleobase-containing compound metabolic process phenotype", + "organic cyclic compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "metabolic process phenotype", + "macromolecule metabolic process phenotype", "cell cycle phase", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", + "Abnormality of the cell cycle", + "interphase", "ear", - "abnormal ear", + "sensory perception", + "decreased sensory perception", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "anatomical line", - "body part movement", + "decreased qualitatively system process", + "decreased qualitatively sensory perception of sound", + "sensory perception phenotype", + "ear physiology phenotype", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "decreased system process", + "Hearing impairment", + "sense organ physiology phenotype", + "nucleic acid metabolic process phenotype", + "lateral structure physiology phenotype", "immaterial anatomical entity", - "behavior", - "response to stimulus", "eye movement", - "abnormal eye movement", "Strabismus", - "behavior process", - "abnormal response to stimulus", - "Abnormality of body height", + "body part movement", + "multicellular organismal process phenotype", + "anatomical line", + "behavior", + "decreased qualitatively sensory perception of mechanical stimulus", + "eye physiology phenotype", + "Atypical behavior", + "camera-type eye physiology phenotype", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "multicellular organism height phenotype", "Short stature", + "size of multicellular organism phenotype", "delayed biological_process", - "abnormal DNA damage response", - "delayed growth", - "abnormal size of multicellular organism", - "Horseshoe kidney", - "shape anatomical entity", + "Abnormality of body height", + "Decreased fertility in males", + "Decreased fertility", + "Male infertility", + "3-D shape anatomical entity", "Abnormality of eye movement", "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", + "Abnormal renal collecting system morphology", + "macromolecule metabolic process", + "Duplicated collecting system", "Neoplasm", - "Hematological neoplasm", - "vasculature", + "Leukemia", + "neoplasm phenotype", + "biological_process rate phenotype", + "increased qualitatively biological_process", + "Localized skin lesion", + "Hyperpigmentation of the skin", + "Cafe-au-lait spot", + "Macule", + "vascular system", "Abnormality of the vasculature", - "blood circulation", - "Bruising susceptibility", - "Subcutaneous hemorrhage", - "abnormality of cardiovascular system physiology", + "anatomical cluster phenotype", "Generalized abnormality of skin", - "Internal hemorrhage", - "Abnormality of blood circulation", "Vascular skin abnormality", - "vascular system", - "Abnormal bleeding", - "abnormal anatomical entity morphology in the skeleton of manus", + "vasculature", + "Abnormal heart morphology", + "Abnormal cardiovascular system morphology", + "heart morphology phenotype", + "circulatory organ", + "Abnormality of the cardiovascular system", + "heart plus pericardium", + "thoracic cavity element", + "Duplication of thumb phalanx", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", "manual digit bone", - "Duplication of bones involving the upper extremities", + "eye movement phenotype", + "manual digit digitopodial skeleton", "phalanx endochondral element", - "manual digit phalanx endochondral element", - "Duplication of phalanx of hand", - "abnormal phalanx morphology", - "acropodial skeleton", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", "phalanx", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "digitopodium bone", "skeleton of manual acropodium", - "manual digitopodium bone", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", + "digitopodium bone", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular biosynthetic process", + "metabolic process", "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "regulation of biosynthetic process", - "individual digit of digitopodial skeleton", - "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "Abnormality of DNA repair", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "decreased height of the anatomical entity", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "Duplicated collecting system", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "negative regulation of macromolecule metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", + "negative regulation of gene expression", "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "negative regulation of cellular process phenotype", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "regulation of cellular biosynthetic process phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "multicellular organism mass phenotype", + "material anatomical entity mass phenotype", + "decreased anatomical structure mass", + "decreased material anatomical entity mass", "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormal growth", - "decreased anatomical entity mass", - "abnormal cell cycle", - "Duplication of thumb phalanx", - "abnormality of anatomical entity mass", - "sensory system", - "decreased size of the eyeball of camera-type eye", - "simple eye", - "eyeball of camera-type eye", "camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "abnormal camera-type eye morphology", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "entire sense organ system", + "Abnormality of the orbital region", + "camera-type eye morphology phenotype", "Abnormality of the eye", - "abnormal face", + "face phenotype", "orbital region", - "abnormal eyeball of camera-type eye", - "abnormal size of eyeball of camera-type eye", - "visual system", - "Abnormality of the orbital region", - "Abnormality of the face", "sense organ", "Microphthalmia", - "abnormal enucleated reticulocyte morphology", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "size of eyeball of camera-type eye phenotype", + "simple eye", + "sensory system", + "face morphology phenotype", + "Abnormal eye morphology", + "orbital region phenotype", + "number of anatomical enitites of type reticulocyte phenotype", + "decreased number of reticulocyte", + "enucleated reticulocyte", + "reticulocyte", + "enucleated reticulocyte morphology phenotype", + "vasculature phenotype", + "growth phenotype", + "Abnormality of the endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "sense organ phenotype", + "Abnormality of reproductive system physiology", + "decreased functionality of the organ", + "reproductive system physiology phenotype", + "multicellular anatomical structure physiology phenotype", + "Puberty and gonadal disorders", + "decreased functionality of the material anatomical entity", + "reproductive organ physiology phenotype", + "decreased functionality of the anatomical entity", + "endocrine system phenotype", + "Opisthokonta", + "Abnormal brain morphology", + "Abnormal skull morphology", + "Abnormality of head or neck", + "regional part of nervous system", + "brain", + "regional part of brain", + "craniocervical region phenotype", + "cardiovascular system morphology phenotype", + "Growth abnormality", + "axial skeletal system", + "cranial skeletal system", + "structure with developmental contribution from neural crest", + "head phenotype", + "telencephalon", + "Abnormal axial skeleton morphology", + "Hematological neoplasm", + "regional part of nervous system phenotype", + "organism", + "cell cycle phenotype", + "regional part of brain phenotype", + "subdivision of organism along main body axis phenotype", + "size of skull phenotype", + "craniocervical region", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "subdivision of skeletal system phenotype", "Abnormality of body weight", "aplasia or hypoplasia of telencephalon", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Non-obstructive azoospermia", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "system process", - "Duplication of hand bones", - "abnormal nitrogen compound metabolic process", - "nervous system process", + "decreased multicellular organismal process", + "root", + "primary metabolic process phenotype", + "forebrain morphology phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "Decreased head circumference", + "postcranial axial skeleton", "axial skeleton plus cranial skeleton", - "Abnormal appendicular skeleton morphology", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "acropodium region", - "Intellectual disability", - "bone marrow", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "segment of manus", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal immune system morphology", + "structure with developmental contribution from neural crest phenotype", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "Infertility", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "skull phenotype", + "telencephalon morphology phenotype", + "cellular response to stress phenotype", + "craniocervical region morphology phenotype", + "localised cavitated compound organ", + "manual digitopodium bone", + "localised lateral structure", + "negative regulation of gene expression phenotype", + "localised compound organ", + "localised trunk region element", + "Abnormal localization of kidney", + "Duplication of bones involving the upper extremities", + "localised abdominal segment element", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "Aplasia involving bones of the extremities", + "All", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "G2 phase", + "nervous system phenotype", + "paired limb/fin segment phenotype", + "Aplasia involving bones of the upper limbs", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "limb long bone", + "eye", + "compound organ", + "zeugopodial skeleton", + "endocrine system", + "head morphology phenotype", + "forelimb skeleton", "genitourinary system", - "decreased qualitatively reproductive process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", + "skeleton phenotype", + "absent forelimb endochondral element", + "limb phenotype", "paired limb/fin skeleton", - "arm", + "agenesis of anatomical entity", + "absent bone of free limb or fin in the limb", + "absent lateral structure", "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", "Aplasia/Hypoplasia of the radius", - "Abnormal finger phalanx morphology", - "pigmentation", + "subdivision of skeleton", + "decreased length of autopodial extension", + "ectoderm-derived structure", "bone of appendage girdle complex", - "Male infertility", - "abnormal limb morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "entity", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal autopod region morphology", - "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", + "Abnormal forebrain morphology", + "forelimb", + "Abnormal skeletal morphology", + "pathological phenotype observation", + "decreased functionality of the gonad", + "decreased size of the anatomical entity in the pectoral complex", + "skeleton of limb", + "Aplasia involving forearm bones", + "aplastic forelimb zeugopod bone", + "absent limb bone in the limb", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "absent arm bone in the forelimb", + "paired limb/fin phenotype", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "cardiovascular system", + "absent skeletal element", + "aplastic anatomical entity", + "arm phenotype", + "hematopoietic system", + "response to stress phenotype", + "Small for gestational age", + "Abnormal forearm morphology", + "testis phenotype", + "upper urinary tract phenotype", + "absent compound organ", + "decreased size of the organism subdivision", + "Renal hypoplasia/aplasia", + "digit phenotype", + "renal system", + "absent manual digit", + "absent anatomical entity in the renal system", + "cell", "limb", "Neoplasm by anatomical site", "Decreased anatomical entity mass", "Abnormality of the upper limb", - "cell", - "absent anatomical entity in the renal system", - "skeleton", - "male gamete generation", - "absent anatomical entity", - "Abnormal digit morphology", - "appendicular skeletal system", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", - "agenesis of anatomical entity", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "abnormal digit morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of manus", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", - "skeletal system", - "motile cell", - "aplastic anatomical entity", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "abnormally decreased number of myeloid cell", - "face", - "aplasia or hypoplasia of manual digit", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", + "main body axis", + "gonad physiology phenotype", + "forebrain", + "myeloid leukocyte phenotype", + "localised multicellular anatomical structure", + "excretory system", + "cellular process", + "long bone morphology phenotype", + "number of anatomical enitites of type kidney phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "trunk", + "absent trunk region element in the multicellular organism", + "absent material anatomical entity in the multicellular organism", + "lateral structure phenotype", + "Irregular hyperpigmentation", + "male organism", + "absent trunk region element in the renal system", "regulation of metabolic process", "Decreased body weight", + "decreased size of the ectoderm-derived structure", "manual digit 1", "autopodial extension", - "digit plus metapodial segment", - "Short thumb", - "enucleated reticulocyte", + "Chromosome breakage", + "trunk region element phenotype", + "forelimb long bone", + "localised male reproductive organ", + "Abnormal conjugate eye movement", + "forelimb bone", + "renal/urinary system phenotype", + "decreased qualitatively biological_process", + "ear phenotype", + "anatomical entity", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "appendicular skeletal system", + "Renal agenesis", "Abnormality of the kidney", - "excretory system", - "bone marrow cell", - "circulatory system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "abnormal myeloid cell morphology", - "increased biological_process", - "sexual reproduction", - "Macule", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "quality", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abdomen element", + "manual digit phalanx endochondral element", + "number of anatomical enitites of type trunk region element phenotype", + "decreased functionality of the reproductive structure", + "Cryptorchidism", + "cell cycle", + "pectoral complex", + "decreased size of the material anatomical entity", + "body proper", + "absent cavitated compound organ", + "Abnormality of the upper urinary tract", + "number of anatomical enitites of type lateral structure phenotype", + "bone of appendage girdle complex phenotype", + "trunk region element", + "decreased size of the manual digit", + "Hypermelanotic macule", + "absent kidney in the renal system", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent material anatomical entity in the renal system", + "Abnormal platelet count", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "number of anatomical enitites of type organ phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "central nervous system morphology phenotype", + "Abnormality of the nervous system", + "cavitated compound organ phenotype", "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "DNA damage response", - "lateral structure", - "abnormal vasculature", - "abnormal genitourinary system", - "changed developmental process rate", - "Abnormal cerebral morphology", - "abnormal blood circulation", - "arm bone", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "abnormal hematopoietic system", - "Renal agenesis", + "Absent thumb", + "absent radius endochondral element", + "Abnormal reticulocyte morphology", + "number of hematopoietic cell phenotype", + "renal system phenotype", + "nucleic acid metabolic process", + "absent endochondral bone in the limb", + "Abnormal renal morphology", + "absent forelimb zeugopod bone in the forelimb", + "Abnormal myeloid leukocyte morphology", + "compound organ phenotype", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "arm", + "Anemic pallor", + "absent limb long bone in the forelimb", + "multicellular anatomical structure mass phenotype", + "male reproductive organ phenotype", + "number of anatomical enitites of type compound organ phenotype", + "leukocyte", + "simple eye phenotype", + "abdomen element", + "DNA damage response", + "lateral structure", + "cellular process phenotype", + "multicellular organism phenotype", + "external genitalia phenotype", + "appendicular skeleton morphology phenotype", + "occurrent", "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "nucleate cell", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "renal system", - "absent digit", - "phenotype", + "decreased number of platelet", + "decreased number of anatomical entity", + "absent anatomical structure in the forelimb", + "integument phenotype", + "biological regulation", + "absent trunk region element", + "abdominal segment of trunk", + "Abnormal cellular phenotype", + "Duplication of phalanx of hand", + "number of anatomical enitites of type cavitated compound organ phenotype", + "reproductive structure physiology phenotype", + "number of anatomical enitites of type granulocyte phenotype", + "abdominal segment element", + "decreased number of neutrophil", + "renal collecting system phenotype", + "musculature", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "decreased size of the autopodial extension", + "absent bone of pectoral complex in the limb", + "digit 1 digitopodial skeleton", + "decreased number of myeloid cell", + "limb endochondral element", + "absent limb bone", "Abnormal cell morphology", + "phenotype", + "eye phenotype", + "Abnormal cellular immune system morphology", "skeletal element", + "regulation of biosynthetic process phenotype", "zeugopod", - "Abnormal cellular immune system morphology", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "regional part of nervous system", - "abdominal segment element", - "abnormal reproductive system morphology", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "hemolymphoid system", - "biological_process", - "myeloid leukocyte", - "entire sense organ system", - "absent radius bone in the independent continuant", - "Abnormal localization of kidney", - "biological regulation", - "abdominal segment of trunk", + "radius endochondral element", + "taxon specific phenotype", + "granulocyte morphology phenotype", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "nervous system process phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "Bruising susceptibility", + "absent compound organ in the renal system", "renal collecting system", "Ectopic kidney", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal immune system", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", - "abnormal renal system morphology", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "absent kidney in the renal system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "reproduction", - "absent anatomical entity in the multicellular organism", - "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", - "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Aplasia/hypoplasia involving the skeleton", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "subdivision of trunk", - "absent manual digit", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "body proper", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "continuant", - "abnormality of ear physiology", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", - "cellular metabolic process", - "Abnormality of neutrophils", - "leukocyte", - "abnormal gamete generation", - "protein-containing material entity", - "gamete generation", - "abnormally decreased number of cell in the independent continuant", - "abnormal neutrophil", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "phalanx of manus", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", - "abnormal nervous system", - "paired limb/fin segment", - "abnormality of camera-type eye physiology", - "immune system", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "Absent forearm bone", - "Leukemia", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", + "immune system morphology phenotype", + "cell phenotype", + "obsolete cell", + "programmed DNA elimination", + "anatomical entity morphology phenotype", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "localised kidney", + "absent anatomical structure", + "absent cavitated compound organ in the renal system", + "decreased number of anatomical structure", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", + "platelet phenotype", + "integument", + "erythroid lineage cell morphology phenotype", + "Abnormality of the integument", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "Microcephaly", + "multi-tissue structure phenotype", + "Abnormality of the musculoskeletal system", + "circulatory system", + "bone marrow cell", + "regulation of gene expression phenotype", + "brain morphology phenotype", + "system", + "absent forelimb bone in the forelimb", + "multicellular organism morphology phenotype", + "cavitated compound organ", + "Abnormal leukocyte count", + "number of anatomical enitites of type neutrophil phenotype", "blood cell", "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", "Abnormal myeloid cell morphology", "U-shaped kidney", "digit 1 or 5", - "skeleton of manual digitopodium", - "primary circulatory organ", + "entity", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", + "subdivision of organism along main body axis", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "Abnormal immune system morphology", + "number of platelet phenotype", + "external genitalia", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "arm bone", + "absent kidney", + "increased pigmentation", + "material anatomical entity phenotype", + "forelimb long bone phenotype", + "nucleobase-containing compound metabolic process", + "manus morphology phenotype", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "anatomical entity morphology in the appendage girdle complex phenotype", + "bone of free limb or fin phenotype", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "immune system", + "Absent forearm bone", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "organ system subdivision", + "erythrocyte", + "decreased number of cell", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "limb long bone morphology phenotype", + "Abnormality of skin pigmentation", + "phenotypic effect", + "size of anatomical entity phenotype", + "Abnormality of thumb phalanx", + "decreased number of leukocyte", + "absent anatomical structure in the limb", + "absent anatomical entity", + "integumental system", "granulocyte", "Complete duplication of phalanx of hand", "limb bone", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "viscus", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "aplastic manual digit 1", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "abnormality of nervous system physiology", + "absent bone element in the limb", + "myeloid leukocyte", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "Growth delay", + "kidney", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "Abnormal bone marrow cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", + "vision/eye phenotype", + "absent multicellular anatomical structure in the skeletal system", "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", + "number of anatomical enitites of type anatomical entity phenotype", + "neutrophil phenotype", + "external male genitalia", + "decreased functionality of the reproductive organ", + "non-connected functional system", + "skin of body phenotype", + "Abnormal granulocyte count", + "absent bone of appendage girdle complex in the limb", + "number of cell phenotype", + "number of leukocyte phenotype", + "platelet", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "multi-tissue structure", + "limb long bone phenotype", + "musculoskeletal system", + "absent material anatomical entity in the forelimb", + "anatomical system phenotype", + "musculature phenotype", + "number of myeloid cell phenotype", + "absent bone element", + "paired limb/fin", + "decreased size of the digit", + "decreased number of material anatomical entity", + "regulation of macromolecule biosynthetic process", + "anatomical structure mass phenotype", + "decreased functionality of the anatomical structure", + "multicellular organism", + "Thrombocytopenia", + "decreased sensory perception of mechanical stimulus", + "phalanx of manus", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "anatomical entity phenotype", + "appendage", + "localised testis", + "bone element", + "mesoderm-derived structure phenotype", + "decreased number of hematopoietic cell", + "absent organ", + "decreased multicellular anatomical structure mass", + "Absent radius", + "cellular metabolic process", + "superficial fascia", + "Abnormality of neutrophils", + "Abnormal morphology of the radius", + "absent lateral structure in the renal system", + "absent abdominal segment element", + "decreased size of the anatomical entity", + "absent material anatomical entity", + "Aplasia/hypoplasia involving bones of the hand", "Abnormal granulocyte morphology", - "abnormally decreased number of granulocyte", - "manual digit 1 plus metapodial segment", - "abdomen", + "glandular system", + "Abnormal male external genitalia morphology", + "absent abdominal segment element in the renal system", + "motile cell", + "skeletal system", + "sensory perception of mechanical stimulus phenotype", + "anatomical line between pupils", + "independent continuant", + "absent abdomen element", "neutrophil", - "Complete duplication of thumb phalanx", - "manual digit 1 phalanx", - "abnormal forelimb zeugopod bone", - "Abnormal myeloid leukocyte morphology", + "subdivision of head phenotype", + "blood cell phenotype", + "decreased number of granulocyte", + "multicellular anatomical structure phenotype", + "Hearing abnormality", + "absent anatomical structure in the renal system", + "continuant", + "absent bone of free limb or fin in the forelimb", + "manual digit 1 phalanx endochondral element", + "forelimb zeugopod bone morphology phenotype", + "tissue", + "decreased sensory perception of sound", + "anatomical system physiology phenotype", + "anatomical structure", + "Abnormal bleeding", + "immune system phenotype", + "skeleton", + "paired limb/fin segment", + "erythrocyte morphology phenotype", + "skeletal element phenotype", + "limb segment", + "forelimb morphology phenotype", + "cellular organisms", + "Abnormal neutrophil count", + "oxygen accumulating cell", + "protein-containing material entity", + "segment of manus", + "eukaryotic cell", + "absent radius bone in the forelimb", + "skeletal system morphology phenotype", + "kidney phenotype", + "material anatomical entity", + "skin of body morphology phenotype", + "hematopoietic system phenotype", + "ectoderm-derived structure phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "forelimb endochondral element phenotype", + "subdivision of organism along appendicular axis phenotype", "Pancytopenia", - "abnormal head", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", - "organism", - "programmed DNA elimination", - "obsolete cell", - "internal male genitalia", - "Abnormal granulocyte count", - "eye", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal hematopoietic cell morphology", - "biological phase", - "autopod bone", - "mesoderm-derived structure", - "abnormal manus", - "craniocervical region", - "abnormal forebrain morphology", - "multi-tissue structure", - "abnormal craniocervical region morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", - "Decreased head circumference", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "abnormal head morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "spermatogenesis", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "Infertility", - "negative regulation of cellular metabolic process", - "Eukaryota", - "kinesthetic behavior", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "manual digit 1 phalanx endochondral element", - "tissue", - "absent anatomical entity in the semen", - "limb skeleton subdivision", - "skull", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "absent sperm in the semen", - "bone of pectoral complex", - "decreased length of anatomical entity", - "autopod endochondral element", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb", - "Abnormal forebrain morphology", - "multicellular organismal reproductive process", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Abnormal renal morphology", - "abnormal external genitalia", - "Abnormal axial skeleton morphology", + "acropodium region", + "Abnormal skin morphology", + "telencephalon phenotype", + "male reproductive system phenotype", + "forelimb zeugopod", + "absent limb long bone", + "decreased length of material anatomical entity", + "absent organ in the renal system", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "acropodial skeleton", + "autopod region morphology phenotype", + "absent limb endochondral element in the forelimb", + "number of anatomical enitites of type endochondral bone phenotype", + "DNA metabolic process phenotype", + "hemolymphoid system", + "multi-limb segment region phenotype", + "aplasia or hypoplasia of skeleton", + "renal system morphology phenotype", + "radius bone morphology phenotype", + "absent radius endochondral element in the forelimb", "non-material anatomical boundary", "erythroid lineage cell", - "reproductive organ", - "abnormal skull morphology", - "Abnormality of brain morphology", + "absent limb bone in the forelimb", + "Aplasia/hypoplasia involving bones of the extremities", + "absent mesoderm-derived structure", + "digit 1 plus metapodial segment", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "number of anatomical enitites of type abdominal segment element phenotype", + "number of anatomical enitites of type skeletal element phenotype", + "nervous system physiology phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "manus phenotype", + "Aplasia/hypoplasia of the extremities", + "absent skeletal element in the limb", + "Pallor", + "absent radius bone", + "decreased length of anatomical structure", + "absent anatomical structure in the skeletal system", + "absent limb endochondral element in the limb", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "behavior phenotype", "nervous system", "forelimb zeugopod bone", - "heart plus pericardium", - "Cryptorchidism", - "thoracic segment organ", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "circulatory organ", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Abnormality of cardiovascular system morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "integumental system", - "integument", - "absent radius bone in the forelimb", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Growth delay", - "kidney", - "abnormal biological_process", - "Abnormality of skin morphology", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Neutropenia", - "reproductive structure", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "germ line cell", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal integument", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "limb segment", - "absent sperm", - "abnormal endocrine system", - "abnormally decreased number of reticulocyte", - "Abnormality of the endocrine system", - "Abnormality of reproductive system physiology", - "gamete", - "male gamete", - "abnormally decreased functionality of the gonad", + "decreased functionality of the multicellular anatomical structure", + "decreased length of manual digit 1 or 5", + "radius bone phenotype", + "decreased length of digit 1", + "increased biological_process", + "absent bone of free limb or fin", + "aplastic manual digit 1", + "number of anatomical enitites of type bone element phenotype", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "Abnormal cerebral morphology", + "absent endochondral element in the limb", + "limb segment phenotype", + "decreased size of the organ", + "absent forelimb bone", + "multi-limb segment region", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "forelimb bone phenotype", + "absent multicellular anatomical structure in the limb", + "decreased size of the sense organ", + "quality", + "anatomical collection phenotype", + "subdivision of head", + "appendage girdle complex", + "absent mesoderm-derived structure in the forelimb", + "cellular response to stimulus phenotype", + "Abnormal appendicular skeleton morphology", + "absent bone element in the forelimb", + "Reticulocytopenia", + "absent endochondral element in the forelimb", + "absent forelimb bone in the limb", "Abnormality of the genital system", - "glandular system", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "manus bone", - "radius bone", - "Abnormality of the hand", - "Anemia", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "absent kidney", - "subdivision of skeletal system", - "abnormally decreased number of neutrophil", - "absent kidney in the independent continuant", - "Aplasia involving bones of the upper limbs", - "eukaryotic cell", - "abnormal limb long bone morphology", - "absent forelimb zeugopod bone", - "forelimb zeugopod skeleton", - "abnormal size of skull", - "forelimb long bone", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", - "Pallor", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "Absent radius", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal behavior", - "radius endochondral element", + "vestibulo-auditory system", + "absent limb endochondral element", + "upper limb segment phenotype", + "endochondral element phenotype", + "absent long bone in the forelimb", + "manual digit 1 morphology phenotype", + "absent organ in the limb", + "Abnormal leukocyte morphology", + "organ phenotype", + "absent bone of appendage girdle complex", + "Abnormal platelet morphology", + "autopod endochondral element", + "homeostatic process phenotype", + "central nervous system", + "Abnormality of limb bone", + "absent endochondral element", + "absent endochondral bone in the forelimb", + "simple eye physiology phenotype", + "absent organ in the forelimb", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "limb bone morphology phenotype", + "delayed growth", + "arm bone phenotype", + "number of anatomical enitites of type abdomen element phenotype", + "limb endochondral element phenotype", + "anatomical entity length phenotype", + "digit", "sensory perception of mechanical stimulus", - "abnormally decreased number of anatomical entity", "skin of body", "Abnormal upper limb bone morphology", - "abnormal radius bone morphology", - "forelimb zeugopod", - "abnormal testis morphology", - "aplastic forelimb zeugopod bone", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal cellular process", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", + "bone of pectoral complex phenotype", + "aplasia or hypoplasia of manual digit 1", + "endochondral element", + "skeleton of pectoral complex", + "forelimb zeugopod morphology phenotype", + "manual digit morphology in the manus phenotype", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "absent forelimb endochondral element in the limb", + "appendage phenotype", + "organism subdivision phenotype", + "Abnormality of limbs", + "bone of pectoral complex morphology phenotype", + "negative regulation of metabolic process phenotype", + "Short finger", + "absent long bone", + "Aplasia/hypoplasia involving the skeleton", + "Abnormality of globe size", + "bone element phenotype", + "absent bone of pectoral complex in the forelimb", + "aplasia or hypoplasia of radius bone", + "primary circulatory organ", + "skeleton of manual digitopodium", + "absent endochondral bone", + "localised organ", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "absent bone of appendage girdle complex in the forelimb", + "absent skeletal element in the forelimb", + "behavior process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "number of anatomical enitites of type endochondral element phenotype", + "anatomical entity physiology phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "cognition", + "endochondral bone phenotype", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "decreased length of manual digit", + "Aplasia/hypoplasia involving forearm bones", + "absent organ in the multicellular organism", + "multicellular organismal process", + "U-shaped anatomical entity", + "long bone phenotype", + "absent forelimb zeugopod bone", + "forelimb zeugopod bone phenotype", + "Abnormal finger phalanx morphology", + "pigmentation", + "shape of continuant phenotype", "anucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "cellular organisms", - "Abnormal neutrophil count", - "obsolete multicellular organism reproduction", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", "serotonin secreting cell", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "digit 1", - "abnormal platelet morphology", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "developmental process involved in reproduction", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "germ cell", - "absent gamete", - "sperm", - "abnormal gamete", - "Reticulocytopenia", - "organism substance", - "haploid cell", + "Abnormality of thrombocytes", + "limb bone phenotype", + "secretory cell", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "localised anatomical structure", + "testis", + "skull morphology phenotype", + "localised reproductive structure", + "behavior process phenotype", + "reproductive system phenotype", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "nucleate cell", + "reproductive structure phenotype", + "viscus", + "anatomical entity mass phenotype", + "reproductive organ phenotype", + "skull", + "absent material anatomical entity in the skeletal system", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "cardiovascular system phenotype", + "localised abdomen element", + "Abnormal testis morphology", "disconnected anatomical group", - "abnormal cell", "male reproductive organ", - "internal genitalia", - "abnormal internal genitalia", - "platelet", - "absent sperm in the independent continuant", - "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "reproductive process", + "absent arm bone", + "reproductive organ", + "gonad phenotype", + "response to stimulus phenotype", + "reproductive system", + "Abnormal eye physiology", + "segment of autopod", + "localised material anatomical entity", + "Aplasia/Hypoplasia of fingers", + "Neutropenia", + "reproductive structure", + "external male genitalia phenotype", + "Abnormality of mental function", + "increased biological_process in skin of body", + "localised anatomical entity", + "decreased size of the multicellular anatomical structure", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "absent mesoderm-derived structure in the limb", + "autopod region phenotype", + "anatomical entity morphology in the manus phenotype", + "autopodial skeleton", + "ectoderm-derived structure physiology phenotype", "shape kidney", "negative regulation of metabolic process", + "nervous system morphology phenotype", "manual digit 1 or 5", - "developmental process", - "Abnormal external genitalia", "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "interphase", - "semen", - "Abnormal testis morphology", - "male germ cell", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "male organism", - "abnormal granulocyte morphology", - "Azoospermia", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "testis", - "external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "Short finger", - "Abnormal reticulocyte morphology", - "decreased length of anatomical entity in independent continuant", + "abdomen", + "manual digit 1 plus metapodial segment", + "decreased length of organism subdivision", + "bone of pectoral complex", + "decreased length of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", "anterior region of body", "decreased length of manual digit 1", - "manual digitopodium region", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "decreased length of digit", + "skeleton of manus", + "digitopodium region", + "camera-type eye phenotype", + "manus", + "Anemia", + "manus bone", + "radius bone", + "Abnormality of the hand", + "face", + "aplasia or hypoplasia of manual digit", + "digit 1", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "decreased length of multicellular anatomical structure", + "digit 1 phenotype", + "Abnormal digit morphology", + "absent abdomen element in the renal system", + "digit morphology phenotype", + "digit 1 or 5 phenotype", + "autopodial extension phenotype", + "manual digit plus metapodial segment", + "manual digit phenotype", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "pigmentation phenotype", + "Short thumb", + "DNA repair phenotype", "skeleton of digitopodium", + "absent multicellular anatomical structure in the renal system", "Short digit", - "reticulocyte", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "manual digitopodium region", + "decreased length of digit", + "skeletal system phenotype", + "digit plus metapodial segment", + "Metazoa", + "Abnormal hand morphology", + "organ", + "decreased size of the anatomical structure", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "Subcutaneous hemorrhage", + "absent organism subdivision in the multicellular organism", + "abdominal segment element phenotype", + "Finger aplasia", + "absent organism subdivision", + "Neurodevelopmental abnormality", + "absent autopodial extension", + "Abnormal limb bone morphology", + "absent digit", + "number of anatomical enitites of type organism subdivision phenotype", + "genitourinary system phenotype", + "biological_process", + "process", + "Duplication of hand bones", + "nervous system process", + "anatomical structure physiology phenotype", + "bone marrow", + "Intellectual disability", + "system process", + "Hypergonadotropic hypogonadism", + "material anatomical entity physiology phenotype", ], "has_phenotype_count": 34, "highlight": None, @@ -1694,7 +2021,7 @@ def autocomplete(): "full_name": None, "deprecated": None, "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", - "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], + "xref": ["DOID:0111082", "GARD:15754", "MEDGEN:854018", "OMIM:614083", "UMLS:C3469528"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -1716,25 +2043,25 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0007018", "HP:0000470", - "HP:0008551", + "HP:0007018", "HP:0009777", - "HP:0004590", "HP:0002575", "HP:0000238", - "HP:0000369", + "HP:0040012", "HP:0000465", - "HP:0000957", - "HP:0002023", "HP:0000582", - "HP:0001510", + "HP:0008551", + "HP:0004590", "HP:0000316", + "HP:0002188", "HP:0001776", + "HP:0000369", "HP:0000347", "HP:0003974", + "HP:0001510", "HP:0001511", + "HP:0000568", "HP:0009892", "HP:0000151", "HP:0001263", @@ -1742,37 +2069,37 @@ def autocomplete(): "HP:0002032", "HP:0011968", "HP:0001321", + "HP:0000431", "HP:0000175", "HP:0000054", + "HP:0005528", "HP:0000437", "HP:0001903", + "HP:0000957", "HP:0000122", - "HP:0002188", - "HP:0000568", - "HP:0000431", - "HP:0005528", "HP:0000089", + "HP:0002023", ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", "Short neck", - "Microtia", + "Attention deficit hyperactivity disorder", "Absent thumb", - "Hypoplastic sacrum", "Tracheoesophageal fistula", "Hydrocephalus", - "Low-set ears", + "Chromosome breakage", "Webbed neck", - "Cafe-au-lait spot", - "Anal atresia", "Upslanted palpebral fissure", - "Growth delay", + "Microtia", + "Hypoplastic sacrum", "Hypertelorism", + "Delayed CNS myelination", "Bilateral talipes equinovarus", + "Low-set ears", "Micrognathia", "Absent radius", + "Growth delay", "Intrauterine growth retardation", + "Microphthalmia", "Anotia", "Aplasia of the uterus", "Global developmental delay", @@ -1780,1893 +2107,2465 @@ def autocomplete(): "Esophageal atresia", "Feeding difficulties", "Cerebellar hypoplasia", + "Wide nasal bridge", "Cleft palate", "Micropenis", + "Bone marrow hypocellularity", "Depressed nasal tip", "Anemia", + "Cafe-au-lait spot", "Unilateral renal agenesis", - "Delayed CNS myelination", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", "Renal hypoplasia", + "Anal atresia", ], "has_phenotype_closure": [ + "UPHENO:0063577", + "UPHENO:0063599", + "UPHENO:0074227", + "UBERON:0001245", + "UPHENO:0002839", + "UPHENO:0074230", "UPHENO:0081210", - "UBERON:0000479", - "HP:0005528", - "HP:0002715", - "HP:0005561", - "UPHENO:0085195", - "UPHENO:0087355", - "UPHENO:0087123", - "HP:0012145", - "UPHENO:0006147", - "UPHENO:0087278", - "UPHENO:0081800", - "UBERON:0008340", - "HP:0000431", - "UPHENO:0006161", - "HP:0000568", - "HP:0100887", - "HP:0008056", - "UPHENO:0000552", - "UPHENO:0050372", - "GO:0048709", - "GO:0048869", - "HP:0012448", - "GO:0007399", - "GO:0032291", - "GO:0022008", - "GO:0010001", + "HP:0000089", + "UPHENO:0011931", + "UPHENO:0026308", + "UBERON:0001008", + "UPHENO:0087427", "UBERON:0000916", - "UPHENO:0083952", "UBERON:8450002", - "UPHENO:0026980", - "UPHENO:0008593", - "UPHENO:0076779", - "UPHENO:0087427", - "HP:0000122", - "GO:0030154", - "UBERON:0002113", "UBERON:0011143", - "UPHENO:0085118", - "UBERON:0002390", - "HP:0020047", - "GO:0014003", - "HP:0001877", - "CL:0000232", - "CL:0000763", - "HP:0012130", - "HP:0001903", - "UPHENO:0004459", - "HP:0000366", - "UPHENO:0082454", - "UPHENO:0041203", - "UPHENO:0041080", - "UPHENO:0075219", - "HP:0005105", - "UPHENO:0087430", - "UPHENO:0041458", - "UBERON:0002268", - "UPHENO:0081585", - "UPHENO:0082356", - "UBERON:0000004", - "UPHENO:0082467", - "HP:0000436", - "HP:0010935", - "UPHENO:0002907", - "HP:0003241", - "UBERON:0003101", - "UBERON:0004053", - "UBERON:0008811", - "HP:0008736", - "UBERON:0000989", - "HP:0010461", - "UPHENO:0050406", - "HP:0000811", - "UBERON:0001008", - "UPHENO:0081320", - "UPHENO:0002948", - "UPHENO:0087643", - "HP:0000054", - "HP:0000032", - "UPHENO:0087802", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0080209", - "UPHENO:0068843", - "HP:0000175", - "HP:0000202", - "UBERON:0004089", - "UPHENO:0076786", - "UBERON:0002553", - "UBERON:0001716", - "UBERON:0000464", - "UBERON:0001709", - "UPHENO:0075655", - "UPHENO:0033635", - "HP:0011283", - "NCBITaxon:6072", - "UPHENO:0076720", - "UPHENO:0080089", - "NCBITaxon:131567", - "UPHENO:0020013", - "UBERON:0004732", - "UBERON:0002028", - "UBERON:0002037", - "UBERON:0001895", - "NCBITaxon:33154", - "UPHENO:0081601", - "GO:0007417", - "UBERON:0004176", - "UBERON:0004733", - "NCBITaxon:1", - "HP:0002977", - "UBERON:0000063", - "UBERON:0000073", - "NCBITaxon:2759", - "HP:0011968", - "UPHENO:0063603", - "HP:0002589", - "HP:0003221", - "HP:0001263", - "UBERON:0005156", - "HP:0000151", - "UBERON:0003100", - "UPHENO:0003053", 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"UBERON:0003606", - "HP:0040070", - "UPHENO:0026023", - "HP:5201015", - "HP:0009822", - "UBERON:0000167", - "UPHENO:0086956", - "UBERON:0003607", - "UBERON:0001423", - "UPHENO:0062515", - "UPHENO:0087585", - "UPHENO:0079872", - "UPHENO:0009341", - "HP:0006501", - "UBERON:0002386", - "HP:0025461", - "UPHENO:0009399", - "HP:0009823", - "UBERON:0003457", - "HP:0011821", - "HP:0031816", - "UBERON:0002514", - "UBERON:0007842", - "HP:0030791", - "UPHENO:0083646", - "UPHENO:0081314", - "UPHENO:0061854", - "UPHENO:0084457", - "HP:0009118", - "UPHENO:0088116", - "UBERON:0007375", - "UBERON:0012360", - "UBERON:0000489", - "UBERON:0010323", - "UBERON:0000165", - "HP:0012447", - "HP:0034261", - "GO:0042063", - "HP:0000036", - "UBERON:0011156", - "GO:0007272", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0003278", - "UBERON:0003462", - "UBERON:0001684", - "UBERON:0004768", - "UPHENO:0081141", - "UBERON:0003135", - "HP:0009116", - "HP:0000347", - "UBERON:0010712", - "UBERON:0010708", - 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"UPHENO:0060026", - "UBERON:0007827", - "UBERON:0002470", - "UBERON:0012139", - "UPHENO:0081436", - "UPHENO:0081328", - "HP:0008517", - "UBERON:0006314", - "UBERON:0005177", - "UPHENO:0075182", - "HP:0009122", - "UPHENO:0076695", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0083951", - "UPHENO:0087374", - "UPHENO:0049990", - "UPHENO:0020659", - "HP:0012243", - "HP:0008518", - "GO:0060255", - "UBERON:0006075", - "UPHENO:0088170", - "UBERON:0010740", - "UPHENO:0081792", - "UBERON:0005173", - "UBERON:0003463", - "UPHENO:0002536", - "HP:0004590", - "HP:0030669", - "HP:0005107", - "HP:0008678", - "GO:0006996", - "UBERON:0005179", - "UBERON:0003828", - "UBERON:0001558", - "HP:0025031", - "UPHENO:0076735", - "UBERON:0000463", - "CL:0000081", - "UBERON:0000064", + "UPHENO:0087349", + "UPHENO:0009031", + "UBERON:0001463", + "UBERON:0008907", + "UPHENO:0026074", + "UBERON:0008962", + "GO:0031324", + "UPHENO:0005230", + "UPHENO:0072200", + "HP:0100886", + "UPHENO:0002598", "GO:0031326", - "UPHENO:0065599", - "UPHENO:0079876", - "UBERON:0001007", - "UBERON:0001710", - "UBERON:0013522", - "UPHENO:0021517", - "UPHENO:0081784", - "UPHENO:0000543", - "HP:0002575", - "HP:0011793", - "UBERON:0003126", - "UPHENO:0086700", - "UPHENO:0020748", - "UPHENO:0069523", - "UPHENO:0002725", + "HP:0006496", + "UBERON:0002090", + "UPHENO:0002526", + "UPHENO:0033592", + "UPHENO:0026097", + "UBERON:0005174", + "HP:0012243", + "UPHENO:0002963", + "UPHENO:0050784", + "GO:0003008", + "UBERON:0010538", + "UBERON:0001440", + "UBERON:0003458", + "UPHENO:0076761", + "UPHENO:0003092", + "UPHENO:0001025", + "UBERON:0000465", + "UBERON:0001130", + "UBERON:5002544", + "UPHENO:0087510", + "UPHENO:0002385", + "UBERON:0001444", + "HP:0000953", + "UPHENO:0018390", + "UPHENO:0002969", + "HP:0011842", + "BFO:0000004", + "UPHENO:0075997", + "HP:0000925", + "UPHENO:0009305", + "UBERON:0008784", + "GO:0031323", + "UPHENO:0063558", + "GO:0048468", + "UBERON:0011138", + "UBERON:0002513", + "UPHENO:0008816", + 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"HP:0025668", + "UPHENO:0009163", + "UPHENO:0004956", + "HP:0002778", + "UPHENO:0026640", + "UPHENO:0002830", + "UPHENO:0006173", + "UPHENO:0049775", + "UBERON:0008001", + "UBERON:0002204", + "HP:0011282", + "UPHENO:0005596", + "UPHENO:0026506", + "NBO:0000313", + "GO:0010558", + "UPHENO:0002433", + "UPHENO:0002945", + "UPHENO:0002269", + "UPHENO:0086172", + "UPHENO:0002643", + "UBERON:0019221", + "UPHENO:0011845", + "UPHENO:0081119", + "UBERON:0002100", + "UPHENO:0002548", + "HP:5200044", + "UBERON:0001474", + "CL:0000329", + "HP:0000708", + "UPHENO:0003025", + "UPHENO:0082875", + "UPHENO:0011492", + "HP:0011355", + "UPHENO:0002861", + "UBERON:0004120", + "UBERON:0002101", + "UBERON:0002075", + "UPHENO:0005424", + "UPHENO:0049757", + "UPHENO:0009337", + "UPHENO:0076723", + "UPHENO:0002905", + "UPHENO:0049966", + "UPHENO:0014292", + "UBERON:0001690", + "HP:0000582", + "UPHENO:0002736", + "UPHENO:0076752", + "UPHENO:0009396", + "UPHENO:0088170", + "UBERON:0005434", + "UBERON:0007196", 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"UPHENO:0080158", - "UPHENO:0080196", - "UPHENO:0063599", - "UBERON:0010222", - "UPHENO:0087816", - "HP:0001762", - "HP:0001776", - "UBERON:0010709", - "HP:0005656", + "UPHENO:0002962", + "UPHENO:0004788", + "UPHENO:0063603", + "UPHENO:0018424", + "UBERON:0006800", + "HP:0000316", + "UPHENO:0056230", "UPHENO:0072195", + "HP:0025732", "HP:0002814", - "UPHENO:0050008", - "HP:0006496", - "UPHENO:0003070", + "UPHENO:0001570", + "UBERON:0005179", + "HP:0012372", + "UPHENO:0003101", + "HP:0011400", + "UPHENO:0075804", + "UPHENO:0079876", + "UPHENO:0072194", + "HP:0006503", + "UPHENO:0080171", + "GO:0048856", + "UBERON:0001007", + "UPHENO:0001584", + "UPHENO:0072185", + "UBERON:0007272", + "UPHENO:0000553", + "UPHENO:0076692", + "UPHENO:0046445", + "HP:0034261", + "UPHENO:0002864", + "UPHENO:0050372", + "UPHENO:0049622", + "GO:0014003", + "UPHENO:0003074", + "HP:0001877", + "UBERON:0010712", + "GO:0042063", + "UBERON:0011156", + "HP:0000036", + "UPHENO:0000558", + "HP:0012448", + "UBERON:0012139", + "UPHENO:0050406", + "HP:0000811", + "UPHENO:0000555", + "GO:0048869", + "GO:0007272", + "UBERON:0003278", + "UBERON:0000463", + "UBERON:0002495", + "UPHENO:0002751", + "UPHENO:0000554", + "UPHENO:0025817", + "GO:0007399", + "GO:0007417", + "UPHENO:0063575", + "UBERON:0000019", + "UBERON:0000073", + "UBERON:0004733", + "UPHENO:0000556", + "GO:0009987", + "GO:0032502", + "UPHENO:0002988", + "UBERON:0013515", + "UPHENO:0041098", + "UPHENO:0000552", + "GO:0010001", + "HP:0012447", + "GO:0032291", + "UPHENO:0002750", + "UBERON:0003113", + "GO:0042552", + "GO:0030154", + "UPHENO:0000543", + "UPHENO:0050734", + "HP:0000465", + "UPHENO:0050121", + "HP:0005656", + "UBERON:0010709", + "HP:0001762", + "UPHENO:0026808", "UPHENO:0081575", - "HP:0000925", - "UBERON:0008784", + "UBERON:0000154", + "UBERON:0004709", + "HP:0001883", + "UPHENO:0005016", + "UPHENO:0086628", + "UPHENO:0025401", + "HP:0001760", + "UPHENO:0081784", + "UPHENO:0018414", + "HP:0000357", + "HP:0009116", + "UPHENO:0002682", + "UBERON:0003135", + "UPHENO:0083646", + "UBERON:0002113", + "UBERON:0007842", + "HP:0011844", + "UBERON:0002514", + "UBERON:0000165", + "UPHENO:0011548", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0002761", + "HP:0030791", + "UBERON:0010323", + "UPHENO:0063581", + "UPHENO:0087501", + "NBO:0000455", + "UPHENO:0002550", + "UBERON:0001684", + "HP:0000163", + "UBERON:0003462", + "UBERON:0003457", + "UPHENO:0063576", + "UPHENO:0080087", + "UBERON:0003460", + "UPHENO:0002536", + "HP:0012733", + "UPHENO:0002818", + "HP:0012145", + "UPHENO:0087806", + "UPHENO:0002828", + "HP:0000464", "HP:0002692", "UBERON:0004756", - ], - "has_phenotype_closure_label": [ - "decreased size of the kidney", - "Bone marrow hypocellularity", - "bone marrow", - "abnormal immune system morphology", - "bone cell", - "tissue", - "Abnormality of bone marrow cell morphology", - "abnormal immune system", - "increased width of anatomical entity", - "abnormal nasal bridge morphology", - "abnormal snout morphology", - "increased width of nasal bridge", - "increased width of the anatomical entity in independent continuant", - "snout", - "Abnormality of globe size", - "Aplasia/Hypoplasia affecting the eye", - "central nervous system myelination", - "gliogenesis", - "decreased size of the eyeball of camera-type eye", - "oligodendrocyte differentiation", - "oligodendrocyte development", - "nervous system development", - "glial cell differentiation", - "abnormal myelination in independent continuant", - "delayed central nervous system myelination", - "abnormal central nervous system myelination in independent continuant", - "abnormal biological_process in central nervous system", - "Abnormal myelination", - "abnormal hematopoietic system morphology", - "system development", - "axon ensheathment", - "abnormal axon ensheathment in central nervous system in independent continuant", - "cellular developmental process", - "abdomen element", - "Abnormality of the kidney", - "absent anatomical entity in the renal system", - "absent kidney", - "cavitated compound organ", - "excretory system", - "abnormal renal system", - "renal system", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "abnormal upper urinary tract", - "abnormal hematopoietic system", - "hematopoietic system", - "abnormal cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormal erythrocyte morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "abnormal size of eyeball of camera-type eye", - "nose tip", - "nose", - "Abnormality of the nose", - "flattened anatomical entity in independent continuant", - "olfactory organ", - "curvature anatomical entity", - "Abnormal external nose morphology", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "flat nose tip", - "external male genitalia", - "Hypoplasia of penis", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal external genitalia", - "decreased size of the external male genitalia", - "Abnormal renal morphology", - "abnormal external genitalia", - "External genital hypoplasia", - "Abnormal penis morphology", - "abnormal penis", - "male reproductive system", - "anatomical cavity", - "abnormal incomplete closing of the secondary palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal midface morphology", - "Orofacial cleft", - "abnormal roof of mouth morphology", - "Craniofacial cleft", - "Abnormal metencephalon morphology", - "Cerebellar hypoplasia", - "Eumetazoa", - "regional part of brain", - "segmental subdivision of nervous system", - "abnormal cerebellum morphology", - "hindbrain", - "external genitalia", - "cerebellum", - "metencephalon", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal metencephalon morphology", - "Abnormal midface morphology", - "regional part of nervous system", - "delayed myelination", - "abnormal hindbrain morphology", - "cerebellum hypoplasia", - "root", - "Feeding difficulties", - "abnormality of digestive system physiology", - "Esophageal atresia", - "esophagus atresia", - "Chromosomal breakage induced by crosslinking agents", - "Neurodevelopmental abnormality", - "Abdominal symptom", - "Abnormal reproductive system morphology", - "abnormal kidney", - "abnormal reproductive system", - "bone marrow cell", - "internal female genitalia", - "Wide nasal bridge", - "abnormal internal female genitalia morphology", - "female organism", - "abnormal female reproductive system", - "Abnormality of the uterus", - "internal genitalia", - "aplasia or hypoplasia of eyeball of camera-type eye", - "uterus", - "abnormal uterus", - "genitourinary system", - "Abnormal morphology of female internal genitalia", - "Aplasia of the uterus", - "reproductive structure", - "abnormal reproductive system morphology", - "female reproductive system", - "aplasia or hypoplasia of uterus", - "oviduct", - "erythrocyte", - "subdivision of oviduct", - "absent anatomical entity in the head", - "absent external ear", - "Anotia", - "absent external ear in the head", - "abnormal biological_process in nervous system", - "absent anatomical entity in the ear", - "decreased embryo development", - "changed embryo development rate", - "multicellular organism development", - "abnormal genitourinary system", - "changed developmental process rate", - "decreased qualitatively developmental process", - "decreased developmental process", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Intrauterine growth retardation", - "Hypoplastic male external genitalia", - "anatomical structure development", - "abnormal embryo development", - "aplastic forelimb zeugopod bone", - "Aplasia/Hypoplasia of the radius", - "Aplasia involving bones of the extremities", - "Aplasia/Hypoplasia of the cerebellum", - "forelimb zeugopod", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "limb long bone", - "Aplasia/hypoplasia involving forearm bones", - "embryo development", - "abnormal radius bone morphology", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormality of the female genitalia", - "abnormal forelimb zeugopod morphology", - "arm bone", - "forelimb long bone", - "forelimb zeugopod skeleton", - "delayed biological_process in central nervous system", - "Abnormal forearm bone morphology", - "absent forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", - "zeugopod", - "Abnormality of the genital system", - "intramembranous bone", + "UPHENO:0002772", + "UPHENO:0025961", + "UPHENO:0088116", + "UPHENO:0009391", + "UPHENO:0081788", + "UPHENO:0026940", + "HP:0008684", + "UPHENO:0002971", + "UPHENO:0080325", + "UPHENO:0006161", + "UPHENO:0002815", + "UPHENO:0081091", + "UBERON:0010758", + "UPHENO:0002994", + "UBERON:0003129", + "HP:0000315", + "UBERON:0010313", + "CL:0000081", + "UBERON:0012360", + "UBERON:0007375", + "UPHENO:0081314", + "HP:0011821", + "HP:0009118", + "HP:0000347", + "HP:0031816", + "HP:0000929", + "UPHENO:0025708", + "HP:0000736", + "UPHENO:0026023", + "UPHENO:0011563", + "HP:0009823", + "UPHENO:0026098", + "HP:0008518", + "UPHENO:0002738", + "UPHENO:0025845", + "UPHENO:0011573", + "UBERON:0004176", + "UBERON:0001423", + "UPHENO:0009209", + "UPHENO:0009295", + "UPHENO:0008703", + "UPHENO:0009356", + "UPHENO:0009021", + "UPHENO:0074231", + "UPHENO:0087472", + "UPHENO:0025176", + "HP:0003953", + "UBERON:0002390", + "UPHENO:0025195", + "UPHENO:0026073", + "UPHENO:0052160", + "UPHENO:0026082", + "HP:0000369", + "UPHENO:0026317", + "UPHENO:0086956", + "UPHENO:0025187", + "UBERON:0001442", + "UBERON:0000167", + "UBERON:0011159", + "UPHENO:0079872", + "UPHENO:0025508", + "UPHENO:0009341", + "UPHENO:0025570", + "UBERON:0002544", + "UBERON:0000060", + "UPHENO:0087585", + "UPHENO:0025166", + "UBERON:0013522", + "UPHENO:0006140", + "UBERON:0003466", + "UPHENO:0086699", + "UBERON:0010913", + "UPHENO:0009399", + "HP:0009822", + "HP:5201015", + "HP:0040070", + "UPHENO:0008709", + "UPHENO:0002977", + "UPHENO:0080099", + "UPHENO:0027020", + "UPHENO:0026312", + "UPHENO:0025776", + "UPHENO:0026407", + "UPHENO:0076800", + "UBERON:0002386", + "UPHENO:0009115", + "UPHENO:0002668", + "UBERON:0003606", + "UPHENO:0025811", + "UPHENO:0025882", + "UPHENO:0025136", + "UPHENO:0076718", + "HP:0003319", + "UPHENO:0009344", + "HP:0002032", + "UPHENO:0009010", + "UPHENO:0002887", + "HP:0008736", + "UPHENO:0008827", + "UPHENO:0011568", + "UPHENO:0026239", + "UPHENO:0075944", + "UPHENO:0027014", + "UBERON:0003126", + "UPHENO:0002967", + "UPHENO:0025652", + "UPHENO:0002637", + "HP:0009121", + "UBERON:0010741", + "UPHENO:0002523", + "UPHENO:0002685", + "UPHENO:0074229", + "UPHENO:0008604", + "HP:0009825", + "UPHENO:0026806", + "UPHENO:0008430", + "UPHENO:0002593", + "UPHENO:0033591", + "UBERON:0005181", + "HP:0006501", + "UPHENO:0011485", + "UBERON:0013701", + "HP:0011017", + "UPHENO:0025808", + "UPHENO:0026095", + "UPHENO:0002902", + "UPHENO:0076754", + "UPHENO:0025546", + "UPHENO:0026096", + "UBERON:0001895", + "UBERON:0002103", + "UPHENO:0025547", + "UBERON:0002037", + "UPHENO:0008640", + "HP:0003974", + "UPHENO:0049874", + "UPHENO:0026280", + "HP:0001167", + "HP:0001510", + "GO:0040007", + "UPHENO:0050034", + "CL:0001035", + "UPHENO:0005642", + "UPHENO:0052694", + "UPHENO:0050068", + "HP:0200006", + "UPHENO:0080382", + "HP:0001000", + "UPHENO:0080393", + "GO:0009790", + "UBERON:0012128", + "UPHENO:0002934", + "UPHENO:0053456", + "UPHENO:0075219", + "HP:0005105", + "UPHENO:0069161", + "UPHENO:0068914", + "UPHENO:0081320", + "UPHENO:0069064", + "HP:0000568", + "UPHENO:0080209", + "UPHENO:0011770", + "UPHENO:0026514", + "UPHENO:0026706", + "UPHENO:0002530", + "HP:0002715", + "UPHENO:0002875", + "UPHENO:0025777", + "UPHENO:0025666", + "UPHENO:0080662", + "UPHENO:0074228", + "UPHENO:0025234", + "UPHENO:0011739", + "HP:0000151", + "UPHENO:0027008", + "GO:0008150", + "UPHENO:0003055", + "UBERON:0000004", + "UBERON:0010740", + "UPHENO:0002642", + "HP:0010460", + "UPHENO:0026014", + "UPHENO:0026509", + "UPHENO:0051450", + "UPHENO:0003053", + "UBERON:0015001", + "UPHENO:0026152", + "UPHENO:0025875", + "UPHENO:0003086", + "UPHENO:0025243", + "UPHENO:0063586", + "HP:0000436", + "UPHENO:0050106", + "UPHENO:0009181", + "UPHENO:0080165", + "UPHENO:0087547", + "UBERON:0000995", + "UBERON:0003134", + "UPHENO:0011847", + "HP:0000130", + "UBERON:0005156", + "HP:0010938", + "UBERON:0003100", + "UPHENO:0005170", + "HP:0001263", + "HP:0003221", + "UPHENO:0063559", + "HP:0020047", + "HP:0011121", + "UBERON:0010000", + "UBERON:0010230", + "UPHENO:0074237", + "UPHENO:0063562", + "UPHENO:0050007", + "UPHENO:0074245", + "UPHENO:0072264", + "UPHENO:0002634", + "UPHENO:0081095", + "UPHENO:0063615", + "UPHENO:0001003", + "UPHENO:0063594", + "UPHENO:0002948", + "HP:0002589", + "UPHENO:0074310", + "UPHENO:0025497", + "UPHENO:0074232", + "UPHENO:0074311", + "UPHENO:0063574", + "HP:0031703", + "HP:0011968", + "UPHENO:0084763", + "UPHENO:0081099", + "UPHENO:0081601", + "NCBITaxon:1", + "UBERON:0000481", + "UPHENO:0011749", + "HP:0000957", + "NCBITaxon:6072", + "UPHENO:0003004", + "UBERON:0004732", + "UBERON:0004086", + "UPHENO:0076720", + "NCBITaxon:131567", + "UPHENO:0005573", + "NCBITaxon:33154", + "HP:0002977", + "UBERON:0005281", + "UPHENO:0080089", + "HP:0011283", + "HP:0008056", + "UBERON:0000063", + "UBERON:0002268", + "UPHENO:0006146", + "UPHENO:0002907", + "UPHENO:0003067", + "HP:0007360", + "HP:0003241", + "UPHENO:0025739", + "HP:0000366", + "UPHENO:0011531", + "UPHENO:0001134", + "UBERON:0008340", + "UBERON:0004089", + "UPHENO:0001303", + "GO:0032501", + "UPHENO:0006147", + "UBERON:0011676", + "HP:0000175", + "UPHENO:0074360", + "UBERON:0000464", + "UPHENO:0011533", + "UPHENO:0076786", + "UPHENO:0033565", + "UPHENO:0052855", + "UPHENO:0033560", + "UPHENO:0033599", + "UPHENO:0025883", + "UPHENO:0033635", + "UPHENO:0002654", + "UBERON:0002553", + "UBERON:0001709", + "UPHENO:0033589", + "UPHENO:0002838", + "CL:0000763", + "UPHENO:0052778", + "HP:0000202", + "UPHENO:0075655", + "HP:0000050", + "HP:0040072", + "UBERON:0004053", + "UBERON:0008811", + "UBERON:0000989", + "UPHENO:0014240", + "UPHENO:0081566", + "UPHENO:0003082", + "HP:0000054", + "UBERON:0005944", + "UBERON:0001716", + "UBERON:0000079", + "HP:0001871", + "UPHENO:0011566", + "UBERON:0006077", + "HP:0010461", + "UPHENO:0076727", + "UPHENO:0002697", + "HP:0001155", + "UBERON:0003101", + "HP:0000032", + "HP:0000119", + "HP:0005528", + "UPHENO:0004459", + "HP:0001903", + "UPHENO:0002693", + "HP:0005561", + "UBERON:0000479", + "HP:0025461", + "UPHENO:0087430", + "UPHENO:0081511", + "HP:0000437", + "UPHENO:0041203", + "CL:0000764", + "UBERON:0002405", + "NCBITaxon:2759", + "HP:0012130", + "CL:0000232", + "UPHENO:0054957", + "UPHENO:0074575", + "UBERON:0002416", + "UBERON:0002199", + "UBERON:0002097", + "HP:0001574", + "GO:0043473", + ], + "has_phenotype_closure_label": [ + "anus", + "anatomical conduit atresia", + "anus morphology phenotype", + "anus phenotype", + "ectoderm-derived structure atresia", + "orifice atresia", + "closing of the ectoderm-derived structure", "Renal hypoplasia", - "mandible hypoplasia", - "bone of lower jaw", - "neural crest-derived structure", - "dentary", - "aplasia or hypoplasia of skull", - "abnormal mouth", - "primary subdivision of skull", - "abnormal hematopoietic cell morphology", - "primary subdivision of cranial skeletal system", - "Micrognathia", - "abnormal male reproductive system", - "abnormal mouth morphology", - "cranial skeletal system", - "dermal bone", - "jaw skeleton", - "facial skeleton", - "immune system", - "facial bone", - "mandible", - "Abnormal mandible morphology", - "paired limb/fin segment", - "multi-limb segment region", - "Anemia", - "radius bone", - "Abnormality of the hand", - "decreased size of the external ear", - "agenesis of anatomical entity", - "paired limb/fin", - "skeleton of lower jaw", - "abnormal digit morphology", - "Aplasia/Hypoplasia of fingers", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "cell development", - "skeleton of manus", - "Hypertelorism", - "pectoral appendage skeleton", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "negative regulation of macromolecule biosynthetic process", - "abnormal arm", - "head", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal nose", - "Aplasia/Hypoplasia of the mandible", - "aplastic anatomical entity", - "anterior region of body", - "appendage", - "subdivision of organism along appendicular axis", - "autopod region", - "digit 1", - "Hyperactivity", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "sensory system", - "ear", - "anatomical entity hypoplasia in face", - "non-connected functional system", - "manual digit", - "Abnormal eye morphology", - "abnormal head morphology", - "Abnormality of the outer ear", - "multi-tissue structure", - "bodily fluid", - "abnormal external nose morphology", - "absent radius bone in the independent continuant", - "neck bone", - "entire sense organ system", - "continuant", - "orbital region", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormal tracheobronchial morphology", - "Aplasia/hypoplasia of the extremities", - "Hypoplastic facial bones", - "forelimb bone", - "anatomical entity hypoplasia", - "Abnormality of brain morphology", - "abnormal size of anatomical entity", - "Abnormality of the vertebral column", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "trunk", - "Macule", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "postcranial axial skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "cervical vertebra", - "jaw region", - "abnormal head", - "endochondral bone", - "subdivision of skeleton", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal head bone morphology", + "kidney hypoplasia", + "upper urinary tract", + "absent multicellular anatomical structure in the renal system", + "upper urinary tract phenotype", + "absent compound organ", + "kidney morphology phenotype", + "Renal hypoplasia/aplasia", + "abdomen element phenotype", + "renal system", + "absent compound organ in the renal system", + "excretory system", + "number of anatomical enitites of type kidney phenotype", + "cavitated compound organ", + "absent organ in the renal system", + "absent abdominal segment element in the renal system", + "absent trunk region element in the renal system", + "absent lateral structure in the renal system", + "Abnormal anus morphology", + "compound organ phenotype", + "abdomen", + "absent cavitated compound organ", + "number of anatomical enitites of type cavitated compound organ phenotype", + "absent trunk region element in the multicellular organism", + "renal system phenotype", + "absent cavitated compound organ in the renal system", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "kidney phenotype", + "absent abdomen element", + "number of anatomical enitites of type compound organ phenotype", + "absent anatomical structure in the renal system", + "increased biological_process", + "increased pigmentation in skin of body", + "Irregular hyperpigmentation", + "kidney", + "bony pelvis", + "Abnormal sacrum morphology", + "aplastic manual digit 1", + "trunk region element phenotype", + "aplasia or hypoplasia of vertebral column", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "manus morphology phenotype", + "sacral region", + "reproductive system", + "sacral region of vertebral column phenotype", + "trachea", + "Aplasia/Hypoplasia of the sacrum", + "endoderm-derived structure", + "trunk region element", "Abnormal pinna morphology", "dorsal part of neck", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "Aplasia/Hypoplasia of the ear", - "external ear", - "abnormal neck morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "vertebral column", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "paired limb/fin skeleton", - "skeleton of limb", - "Delayed myelination", - "Abnormality of skin pigmentation", - "shape nose tip", - "Abnormality of globe location", - "Aplasia/Hypoplasia involving the central nervous system", - "Short neck", - "skeleton", - "cervical vertebra endochondral element", - "decreased length of neck", - "Abnormality of head or neck", - "bone of dorsum", - "external soft tissue zone", - "digit plus metapodial segment", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal bone marrow cell morphology", - "bone of free limb or fin", - "bone element", - "Abnormality of the eye", - "abnormal pes morphology", - "anatomical collection", - "All", + "lateral structure phenotype", + "shape of external ear phenotype", + "Abnormality of the nervous system", "increased qualitatively biological_process", - "decreased size of the anatomical entity in the independent continuant", - "system", - "abnormal female reproductive system morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "neurogenesis", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "skeletal element", - "nucleic acid metabolic process", - "Abnormal myeloid cell morphology", - "leg", - "process", - "Abnormality of the ear", + "shape of continuant phenotype", + "ear morphology phenotype", + "Abnormality of the face", "eyelid", - "Renal agenesis", - "abnormal respiratory system", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "entity", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "biological_process", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "Abnormal neck morphology", - "negative regulation of gene expression", - "response to stimulus", - "flattened anatomical entity", - "bone element hypoplasia in face", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "vestibulo-auditory system", - "protein-DNA complex organization", - "Abnormal anus morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "cell differentiation", - "appendicular skeletal system", - "Eukaryota", + "appendage girdle complex", + "absent mesoderm-derived structure in the forelimb", + "Abnormality of the orbital region", + "roof of mouth", + "Slanting of the palpebral fissure", + "Aplasia/Hypoplasia of the external ear", + "absent uterus", + "Abnormal eyelid morphology", + "incomplete closing of the structure with developmental contribution from neural crest", + "ocular adnexa phenotype", + "metencephalon", + "face phenotype", + "Reduced attention regulation", + "head morphology phenotype", + "forelimb skeleton", + "absent organism subdivision in the head", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "orbital region", + "non-connected functional system", + "palpebral fissure phenotype", + "orifice phenotype", + "eyelid morphology phenotype", + "male reproductive organ", + "multi organ part structure phenotype", + "Abnormality of the head", + "increased length of the anatomical line between pupils", + "face morphology phenotype", + "negative regulation of cellular process", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "absent kidney", + "decreased social inhibition", + "immaterial entity", + "negative regulation of cellular biosynthetic process", + "organ subunit", + "homeostatic process", + "attention behavior", + "metabolic process", "negative regulation of cellular metabolic process", - "cervical region", - "dorsum", - "Abnormal nasal bridge morphology", - "erythroid lineage cell", - "non-material anatomical boundary", - "postcranial axial skeletal system", - "organelle organization", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of the gastrointestinal tract", - "quality", - "aplasia or hypoplasia of ear", - "absent external ear in the independent continuant", - "regulation of cellular biosynthetic process", - "proximo-distal subdivision of respiratory tract", - "behavior process", - "absent anatomical entity in the reproductive system", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "lateral structure", - "regulation of biological process", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal DNA metabolic process", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Depressed nasal tip", - "Abnormality of mental function", - "abnormal cellular process", - "nasal bridge", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "Webbed neck", - "Talipes", - "cellular metabolic process", - "Atypical behavior", - "simple eye", - "cellular component organization", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "midface", - "abnormal cellular component organization", - "abnormal trachea morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "negative regulation of biological process", - "absent digit", - "glial cell development", - "anatomical space", - "Abnormal hindbrain morphology", - "phenotype", - "regulation of metabolic process", - "manual digit 1", + "Eukaryota", + "negative regulation of biological process phenotype", + "closing of the subdivision of digestive tract", + "Abnormal cellular phenotype", + "regulation of cellular process phenotype", + "regulation of metabolic process phenotype", + "tracheobronchial tree morphology phenotype", + "nose tip", + "zeugopod", + "absent material anatomical entity in the renal system", + "regulation of cellular metabolic process phenotype", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular process phenotype", + "limb morphology phenotype", + "biological regulation phenotype", + "pigmentation phenotype", "autopodial extension", - "abnormal face", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "manual digitopodium region", + "manual digit 1", + "decreased size of the ectoderm-derived structure", + "ear", + "regulation of cellular biosynthetic process phenotype", + "subdivision of digestive tract", + "digestive system", + "obsolete cell", + "anatomical entity morphology phenotype", + "central nervous system", + "Abnormality of limb bone", + "subdivision of organism along main body axis", + "dermal skeletal element", + "number of anatomical enitites of type organ part phenotype", + "external ear", + "structure with developmental contribution from neural crest phenotype", + "increased number of organ part", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "bone of craniocervical region", + "intromittent organ phenotype", + "alimentary part of gastrointestinal system morphology phenotype", + "eyeball of camera-type eye", + "hindbrain morphology phenotype", + "increased number of organ component layer in the cerebrospinal fluid", + "subdivision of head", + "increased number of ectoderm-derived structure", + "system", + "regulation of gene expression phenotype", + "subdivision of head phenotype", + "number of anatomical enitites of type skeletal element phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Hypertelorism", + "Morphological central nervous system abnormality", + "Absent radius", + "Abnormal skin morphology", + "subdivision of vertebral column phenotype", + "Abnormality of the outer ear", + "programmed DNA elimination by chromosome breakage phenotype", + "Abnormal tracheal morphology", + "bodily fluid", + "multi-tissue structure", + "increased number of ectoderm-derived structure in the cerebrospinal fluid", + "Abnormality of the digestive system", + "cerebrospinal fluid", + "organism substance", + "organ part phenotype", + "increased number of multicellular anatomical structure", + "fused sacrum", + "increased number of anatomical structure", + "ventricle of nervous system phenotype", + "transudate", + "cerebellum phenotype", + "brain ventricle morphology phenotype", + "absent anatomical entity in the reproductive system", + "subdivision of tube", + "respiratory airway", + "incomplete closing of the roof of mouth", + "brain ventricle/choroid plexus phenotype", + "digestive system phenotype", + "respiratory system", + "regulation of gene expression", + "pectoral appendage", + "absent bone of appendage girdle complex in the forelimb", + "absent skeletal element in the forelimb", + "increased number of material anatomical entity in the cerebrospinal fluid", + "digestive tract", + "camera-type eye morphology phenotype", + "pelvic region element phenotype", + "viscus", + "vertebral element", + "reproductive organ phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "Abnormality of the respiratory system", + "Abnormal respiratory system physiology", + "thoracic segment of trunk", + "compound organ", + "eye", + "axon ensheathment in central nervous system", + "Aplasia/Hypoplasia of the ear", + "Tracheoesophageal fistula", + "absent anatomical structure in the reproductive system", + "programmed DNA elimination", + "Abnormality of the gastrointestinal tract", + "Abnormal volitional state", + "ventricular system of brain", + "number of anatomical enitites of type organ component layer phenotype", "Abnormal respiratory system morphology", "cervical region of vertebral column", - "aplasia or hypoplasia of external ear", - "pes", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "obsolete nitrogen compound metabolic process", - "lower jaw region", - "abnormal digit", - "thoracic segment of trunk", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", + "manual digitopodium region", + "Abnormality of the male genitalia", + "external ear phenotype", + "Abnormality of blood and blood-forming tissues", + "visual system", + "lower respiratory tract", + "flat anatomical entity", + "alimentary part of gastrointestinal system phenotype", + "regulation of metabolic process", + "pectoral appendage skeleton", + "pes", + "absent trunk region element", + "intramembranous bone phenotype", + "skull phenotype", + "female reproductive system phenotype", + "orifice", + "upper digestive tract", + "anatomical system", + "increased number of brain ventricle/choroid plexus", + "membrane bone", + "bone of pectoral complex morphology phenotype", + "tracheobronchial tree", + "abdominal segment of trunk", + "Global developmental delay", + "organ atresia", "alimentary part of gastrointestinal system", - "metabolic process", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "Abnormality of the palpebral fissures", - "pelvic region element", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "secondary palate", - "organism", - "irregular bone", - "Chromosome breakage", - "abnormal chromatin organization", - "Abnormal cellular phenotype", - "curvature anatomical entity in independent continuant", - "negative regulation of cellular process", - "abnormal limb", - "Abnormality of digestive system morphology", + "Aplasia/hypoplasia involving the skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "absent organ part", + "number of anatomical enitites of type anatomical entity phenotype", + "absent digit", + "Abnormal esophagus morphology", + "absent forelimb endochondral element", + "bone of appendage girdle complex phenotype", + "absent material anatomical entity in the limb", + "behavior process", + "limb bone phenotype", + "autopod region morphology phenotype", + "Abnormal hand morphology", + "Metazoa", + "absent limb endochondral element", + "Micropenis", + "Abnormality of limbs", + "Abnormal affect", + "organ part", + "number of anatomical enitites of type organism subdivision phenotype", + "head bone phenotype", + "cavitated compound organ phenotype", + "Abnormal ocular adnexa morphology", + "subdivision of organism along appendicular axis phenotype", + "jaw region", + "renal system morphology phenotype", + "Abnormality of the female genitalia", + "mesoderm-derived structure phenotype", + "pelvic region of trunk", + "palpebral fissure", + "pectoral complex", + "head", + "disconnected anatomical group", + "absent multicellular anatomical structure in the multicellular organism", + "internal genitalia phenotype", + "esophagus", + "sacral region of vertebral column", + "central nervous system development", + "hemolymphoid system", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "Abnormality of the kidney", + "orbital region phenotype", + "biological regulation", + "Abnormal penis morphology", + "anatomical collection phenotype", + "quality", + "aplasia or hypoplasia of external ear", + "decreased size of the sense organ", + "Abnormally increased volition", + "Abnormal renal morphology", "radius endochondral element", - "abnormal behavior", - "Abnormal sacrum morphology", - "aplastic manual digit 1", - "membrane bone", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", - "independent continuant", - "Microtia", - "Abnormality of the neck", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "ensheathment of neurons", - "regulation of cellular process", + "dorsum", + "closing of the anatomical structure", + "cervical region", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "subdivision of organism along main body axis phenotype", + "cervical vertebra endochondral element phenotype", + "brain ventricle phenotype", + "material anatomical entity", + "skin of body morphology phenotype", + "decreased size of the organism subdivision", + "digit plus metapodial segment", + "external soft tissue zone", + "skeletal element phenotype", + "limb bone morphology phenotype", + "nervous system process", + "anatomical structure physiology phenotype", + "facial bone phenotype", + "bone element", + "aplasia or hypoplasia of cerebellum", + "anatomical structure", + "musculature of body", + "ear phenotype", + "decreased qualitatively biological_process", + "anatomical entity", + "main body axis", + "organism subdivision", + "absent endochondral element in the limb", + "decreased size of the anatomical structure", + "organ", + "vertebral element phenotype", + "vertebra", + "Abnormal forearm morphology", + "proximo-distal subdivision of respiratory tract", + "brain ventricle/choroid plexus", + "Short attention span", + "system process", + "external male genitalia hypoplasia", + "Abnormality of globe size", + "Hypoplastic sacrum", + "Aplasia/Hypoplasia of facial bones", + "increased number of anatomical structure in the cerebrospinal fluid", + "craniocervical region phenotype", + "abdominal segment bone", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "nervous system morphology phenotype", + "developmental process", + "cell phenotype", + "anatomical entity hypoplasia in face", + "opening of the anatomical entity", + "increased number of ventricle of nervous system in the cerebrospinal fluid", + "skeletal system morphology phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", "manus", - "abnormal eyelid morphology", - "cellular process", - "Abnormal digit morphology", + "increased size of the immaterial anatomical entity", "neck", - "abnormal central nervous system myelination", - "organ subunit", - "negative regulation of cellular biosynthetic process", - "forelimb zeugopod bone", - "nervous system", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "abnormal anatomical entity", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "anatomical system", - "upper digestive tract", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "orifice", - "multicellular organism", - "regulation of macromolecule biosynthetic process", - "female reproductive organ", - "long bone", + "absent anatomical structure", + "absent external ear", + "increased size of the ectoderm-derived structure", + "pelvic region element", "material entity", "negative regulation of biosynthetic process", - "decreased size of the penis", - "Abnormality of the lower limb", - "endochondral element", - "abnormal neck", - "abnormal brain ventricle morphology", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal behavior process", - "abnormal ear morphology", - "cellular organisms", - "Decreased anatomical entity position", - "increased size of the anatomical entity", - "limb", - "main body axis", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", + "long bone", + "ocular adnexa", + "female reproductive organ", + "Abnormality of head or neck", + "decreased biological_process", + "anatomical entity length phenotype", + "decreased length of material anatomical entity", + "delayed axon ensheathment in central nervous system", + "organ phenotype", + "absent bone of appendage girdle complex", + "increased number of organ component layer", + "anatomical system physiology phenotype", + "nervous system", + "head phenotype", + "forelimb zeugopod bone", + "aplastic anatomical entity", + "anterior region of body", + "appendicular skeleton", + "Abnormal cerebellum morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "absent anatomical entity in the forelimb", + "abdominal segment element phenotype", + "Finger aplasia", + "aplasia or hypoplasia of ear", + "independent continuant", + "anatomical line between pupils", + "number of anatomical enitites of type trunk region element phenotype", + "increased size of the non-material anatomical boundary", + "negative regulation of gene expression phenotype", + "segment of autopod", + "musculature phenotype", + "aplasia or hypoplasia of skull", + "sense organ", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "regulation of biosynthetic process phenotype", + "anatomical system phenotype", + "central nervous system morphology phenotype", + "cervical vertebra endochondral element", + "Abnormal limb bone morphology", + "decreased length of neck", + "postcranial axial skeleton", + "multicellular organism", + "skeleton", + "negative regulation of gene expression", + "vertebra phenotype", + "upper jaw region", + "nervous system physiology phenotype", + "absent anatomical entity in the limb", + "number of anatomical enitites of type reproductive structure phenotype", + "organ system subdivision", + "closing of the multicellular anatomical structure", + "trunk", + "Abnormality of the vertebral column", + "irregular bone phenotype", + "digit 1 or 5 phenotype", + "respiratory tube", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "organ system subdivision phenotype", + "regulation of biological process phenotype", + "absent multicellular anatomical structure", + "number of anatomical enitites of type endochondral element phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "vertebral column phenotype", + "autopodial extension phenotype", + "abdominal segment element", + "musculoskeletal system", + "Short neck", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "skeleton of limb", + "neck morphology phenotype", + "Abnormality of the urinary system", + "closing of the subdivision of tube", + "subdivision of skeletal system", + "entity", + "dermatocranium", + "Abnormal axial skeleton morphology", + "trunk or cervical vertebra phenotype", + "absent endochondral bone in the forelimb", + "bone of dorsum phenotype", + "trunk or cervical vertebra", + "Recurrent maladaptive behavior", + "ventricular system of central nervous system", + "neck bone", + "regulation of cellular process", + "lower limb segment phenotype", + "absent forelimb long bone in the forelimb", + "Phenotypic abnormality", + "cervical vertebra", + "neck phenotype", + "increased number of anatomical entity", + "craniocervical region", + "axon ensheathment phenotype", + "neck bone phenotype", + "Anal atresia", + "anatomical conduit", + "multicellular anatomical structure phenotype", + "reproductive system phenotype", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "incomplete closing of the anatomical entity", + "nose tip phenotype", + "endochondral element phenotype", + "Abnormality of the neck", + "decreased behavior", + "Abnormal reproductive system morphology", + "delayed ensheathment of neurons", + "Abdominal symptom", + "dermal bone phenotype", + "phenotype", + "brain", + "glial cell development", + "anatomical space", + "cognitive behavior", + "decreased size of the multicellular anatomical structure", + "increased biological_process in skin of body", + "digit 1 or 5", + "bone of jaw", + "absent anatomical entity in the renal system", + "incomplete closing of the material anatomical entity", + "decreased length of multicellular anatomical structure", + "Chromosome breakage", + "paired limb/fin", + "Delayed myelination", + "number of anatomical enitites of type material anatomical entity phenotype", + "bone of jaw phenotype", + "Abnormality of skin pigmentation", + "size of anatomical entity phenotype", + "Abnormal brain morphology", + "skeleton of lower jaw", + "bone of free limb or fin phenotype", + "Attention deficit hyperactivity disorder", + "snout morphology phenotype", + "anatomical entity phenotype", + "mandible phenotype", "axial skeletal system", "Growth abnormality", + "number of anatomical enitites of type abdominal segment element phenotype", + "organism", + "secondary palate", + "vertebral column", + "thoracic cavity element", + "Abnormal nasal morphology", + "absent autopodial extension", + "decreased length of anatomical entity", + "bone of pectoral complex", + "nasal bridge", + "decreased length of organism subdivision", + "bone of lower jaw", + "simple eye", + "cervical vertebra phenotype", + "sensory system", + "endochondral element", + "anatomical entity hypoplasia", + "forelimb bone", + "decreased length of anatomical structure", + "agenesis of anatomical entity", + "All", + "nervous system phenotype", + "regulation of macromolecule metabolic process phenotype", + "Abnormality of the skin", + "biological_process rate phenotype", "skeletal system", - "decreased size of the cerebellum", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "subdivision of vertebral column", - "absent manual digit", - "abnormal development of anatomical entity", - "Abnormal thumb morphology", - "subdivision of trunk", - "axon ensheathment in central nervous system", - "eye", - "compound organ", - "decreased qualitatively biological_process", - "anatomical entity", - "digit", - "Unilateral renal agenesis", - "Abnormal cerebellum morphology", - "upper limb segment", - "appendicular skeleton", - "Abnormal skeletal morphology", - "forelimb", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "abnormal primary metabolic process", + "Abnormality of the ear", + "endochondral bone phenotype", + "Abnormal social development", + "cognition", + "uterus phenotype", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "face", + "aplasia or hypoplasia of manual digit", + "esophagus morphology phenotype", + "subdivision of organism along appendicular axis", + "craniofacial/craniocervical phenotype", + "absent anatomical structure in the multicellular organism", "body proper", - "abnormal opening of the anatomical entity", "dorsal region element", - "chromatin organization", - "Reduced impulse control", - "abnormal location of external ear", - "abnormal nervous system", - "Attention deficit hyperactivity disorder", - "abnormal leg", - "craniocervical region", - "posterior region of body", - "Cleft palate", - "behavior", - "Abnormal appendicular skeleton morphology", - "Abnormal forearm morphology", - "vertebra", - "decreased length of anatomical entity in independent continuant", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal vertebral column", - "subdivision of head", - "appendage girdle complex", - "dermal skeletal element", - "subdivision of organism along main body axis", - "developmental process", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abdominal segment bone", - "abnormal facial skeleton morphology", - "material anatomical entity", - "trachea", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "abnormal skeletal system morphology", + "taxon specific phenotype", + "skeletal element", + "Abnormality of the immune system", + "Absent thumb", + "bone of free limb or fin", + "Abnormal ear morphology", + "Abnormal finger morphology", + "absent organism subdivision in the multicellular organism", + "craniocervical region morphology phenotype", + "tube", + "increased number of ventricle of nervous system", + "aplasia or hypoplasia of skeleton", + "appendicular skeleton morphology phenotype", + "occurrent", + "multicellular organismal process phenotype", + "increased number of material anatomical entity", + "absent anatomical structure in the limb", + "decreased qualitatively multicellular organismal process", + "absent abdominal segment element", + "Unilateral renal agenesis", + "Abnormal thumb morphology", + "subdivision of trunk", + "digitopodium region", + "thoracic segment organ atresia", + "Aplasia/Hypoplasia of fingers", + "mouth morphology phenotype", + "genitourinary system phenotype", + "Abnormality of mental function", + "Depressed nasal tip", + "decreased multicellular organismal process", + "upper limb segment phenotype", + "Cognitive impairment", + "Webbed neck", + "absent material anatomical entity in the multicellular organism", + "Talipes", + "subdivision of vertebral column", + "absent manual digit", + "social inhibition", + "dorsal region element phenotype", + "material anatomical entity physiology phenotype", + "Abnormal digit morphology", + "material anatomical entity phenotype", + "Reduced social responsiveness", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "anatomical entity morphology in the manus phenotype", + "Abnormality of the nose", + "absent material anatomical entity in the forelimb", + "absent multicellular anatomical structure in the head", + "Abnormal neck morphology", "protein-containing material entity", "segment of manus", - "Abnormality of the musculoskeletal system", - "organ system subdivision", - "Abnormality of the anus", - "shape anatomical entity", - "ventricular system of brain", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of digestive system physiology", - "absent anatomical entity", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal palate morphology", - "skeleton of pectoral complex", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "absent anatomical entity in the limb", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "dermal skeleton", - "aplasia or hypoplasia of manual digit 1", - "anatomical conduit", - "abnormal limb morphology", - "abdomen", - "manual digit 1 plus metapodial segment", + "sense organ phenotype", + "anatomical conduit phenotype", + "axial skeleton plus cranial skeleton", + "neurogenesis", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "cerebellum morphology phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "Abnormality of the ocular adnexa", + "Opisthokonta", + "Abnormality of the hand", + "Anemia", + "absent multicellular anatomical structure in the forelimb", + "decreased size of the anatomical entity", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "forelimb morphology phenotype", + "absent skeletal element in the limb", + "digit", + "decreased qualitatively multicellular organism development", + "Aplasia/hypoplasia involving bones of the extremities", + "absent mesoderm-derived structure", + "paired limb/fin phenotype", + "Abnormal internal genitalia", + "autopod region phenotype", + "brain morphology phenotype", + "absent mesoderm-derived structure in the limb", + "abdomen element", + "homeostatic process phenotype", + "behavior", + "Renal agenesis", + "Cleft palate", + "Abnormal appendicular skeleton morphology", + "absent bone element in the forelimb", + "limb endochondral element", + "organ component layer", + "penis hypoplasia", + "autopodial skeleton", + "digit 1 phenotype", + "multi organ part structure", + "Abnormal facial skeleton morphology", + "closing of the anatomical conduit", + "developmental process rate phenotype", + "camera-type eye", + "fused sacrum phenotype", "trunk bone", - "bone of appendage girdle complex", - "anatomical wall", + "manual digit 1 plus metapodial segment", + "lateral structure", + "increased number of organ part in the cerebrospinal fluid", + "Abnormality of the cervical spine", + "increased pigmentation", + "Abnormal skeletal morphology", + "external ear hypoplasia", + "axon ensheathment in central nervous system phenotype", + "number of anatomical enitites of type lateral structure phenotype", + "manual digit", "arm", - "mesoderm-derived structure", - "Abnormal facial skeleton morphology", - "autopodial skeleton", - "forelimb skeleton", - "delayed biological_process in independent continuant", - "digitopodium region", - "abnormal growth", - "pelvic complex", + "increased number of brain ventricle in the cerebrospinal fluid", + "anatomical wall", + "absent bone of free limb or fin", + "bone of appendage girdle complex", + "regulation of biological process", + "decreased multicellular organism development", + "Abnormality of the anus", + "digit 1 plus metapodial segment", + "cerebrospinal fluid morphology phenotype", + "respiratory system physiology phenotype", + "Abnormal nervous system physiology", + "paired limb/fin skeleton", + "esophagus phenotype", + "limb phenotype", + "skeleton phenotype", + "paired limb/fin segment", + "erythrocyte morphology phenotype", + "Abnormal bone marrow cell morphology", "acropodium region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the manus", - "Finger aplasia", - "macromolecule metabolic process", - "pelvic region of trunk", - "palpebral fissure", - "fused sacrum hypoplasia", - "nucleobase-containing compound metabolic process", - "Short attention span", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal internal genitalia", - "aplasia or hypoplasia of vertebral column", - "abnormal fused sacrum morphology", - "skull", - "limb skeleton subdivision", - "Aplasia/Hypoplasia involving the vertebral column", - "abnormal craniocervical region", - "sacral region of vertebral column", - "Abnormal upper limb bone morphology", - "skin of body", - "reproductive system", - "sacral region", - "Aplasia/Hypoplasia of the sacrum", - "Global developmental delay", - "biological regulation", - "abdominal segment of trunk", - "bony pelvis", - "bone element hypoplasia in independent continuant", - "abnormal penis morphology", + "absent anatomical structure in the forelimb", + "multi-limb segment region", + "Abnormal social behavior", + "ventricle of nervous system", + "anatomical point", + "subdivision of digestive tract phenotype", + "number of anatomical enitites of type anatomical structure phenotype", + "skeleton of manus", + "cell development", + "manus phenotype", + "continuant", "hindlimb", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", - "abnormal cellular metabolic process", - "Hypoplastic sacrum", - "aplasia or hypoplasia of fused sacrum", - "Delayed CNS myelination", - "fused sacrum", - "Neoplasm", - "Tracheoesophageal fistula", - "Abnormal jaw morphology", - "abnormal ear", - "Low-set ears", - "abnormal esophagus morphology", - "penis", - "digestive system element", - "kidney", - "abnormal biological_process", - "Growth delay", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", - "organ part", - "regulation of gene expression", - "pectoral appendage", - "respiratory system", - "obsolete cell", - "programmed DNA elimination", - "digestive system", - "subdivision of tube", - "abnormal alimentary part of gastrointestinal system", - "oral cavity", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal respiratory system physiology", - "abnormal female reproductive organ morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "tracheobronchial tree", - "trunk region element", - "Aplasia/Hypoplasia of the external ear", - "endoderm-derived structure", - "pelvic appendage", - "respiratory tube", - "abnormal nose tip morphology", - "alimentary part of gastrointestinal system atresia", - "respiratory tract", - "forelimb endochondral element", - "primary metabolic process", - "Abnormality of the skin", - "abnormal bone marrow morphology", - "flat anatomical entity", - "lower respiratory tract", - "Abnormal esophagus morphology", - "abnormal tracheobronchial tree morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormality of respiratory system physiology", - "thoracic segment organ", - "digestive tract", - "Abnormal tracheal morphology", + "external ear morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "absent organism subdivision", + "digit 1", + "Hyperactivity", + "absent organ in the multicellular organism", + "mesoderm-derived structure", + "Aplasia/Hypoplasia of the thumb", + "cell", + "Abnormality of the mouth", + "limb", + "limb long bone morphology phenotype", + "absent subdivision of oviduct in the female reproductive system", + "increased size of the material anatomical entity", "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Abnormality of the respiratory system", - "central nervous system development", - "hemolymphoid system", - "esophagus", - "Abnormal location of ears", - "subdivision of digestive tract", - "delayed biological_process", - "Abnormality of the cervical spine", - "abnormal digestive system", - "tube", - "respiratory airway", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "abnormal nervous system morphology", - "Hydrocephalus", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", - "cerebrospinal fluid", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "bone of craniocervical region", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Positional foot deformity", - "Abnormality of the urinary system", - "abnormal anus morphology", - "organ component layer", - "Morphological central nervous system abnormality", - "Abnormal cell morphology", - "lower limb segment", - "abnormal brain morphology", - "aplasia or hypoplasia of cerebellum", - "abnormally increased number of anatomical entity in the independent continuant", - "organism substance", - "abnormally increased number of anatomical entity", - "external ear hypoplasia", - "abnormal brain ventricle/choroid plexus morphology", - "flat anatomical entity in independent continuant", - "mouth", - "abnormal mandible morphology", - "anatomical point", - "ventricle of nervous system", - "Abnormality of limb bone", - "central nervous system", - "ventricular system of central nervous system", - "abnormal central nervous system morphology", - "transudate", - "Cafe-au-lait spot", + "reproductive system morphology phenotype", + "endochondral bone", + "subdivision of skeleton", + "Abnormality of the skeletal system", + "bone of dorsum", + "sensation behavior", + "digit morphology phenotype", + "Aplasia/Hypoplasia involving the vertebral column", + "location of anatomical entity phenotype", + "skull", + "absent material anatomical entity in the skeletal system", + "limb endochondral element phenotype", + "ensheathment of neurons", + "increased length of the non-material anatomical boundary", + "fused sacrum hypoplasia", + "forelimb zeugopod morphology phenotype", + "trunk bone phenotype", + "penis", + "increased size of the anatomical line", + "number of anatomical enitites of type abdomen element phenotype", + "Abnormality of globe location", + "shape nose tip", + "non-material anatomical boundary", + "absent limb bone in the forelimb", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", "increased length of the anatomical entity", - "myelination", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "abnormal location of ear", - "abnormal ocular adnexa", - "abnormal anatomical entity topology in independent continuant", - "Decreased external ear position", - "external nose", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal external ear", - "increased biological_process", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "integumental system", - "integument", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "abnormal hindlimb morphology", - "abnormal integument", - "brain ventricle", - "eyeball of camera-type eye", - "abnormal anus", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "Abnormal CNS myelination", - "immaterial anatomical entity", - "penis hypoplasia", - "limb endochondral element", - "Anal atresia", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "Abnormality of the face", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "roof of mouth", - "Abnormality of the orbital region", - "visual system", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormal ocular adnexa morphology", - "Abnormal eyelid morphology", - "absent uterus", - "ectoderm-derived structure", - "Slanting of the palpebral fissure", - "reproductive organ", - "abnormal skull morphology", - "anus atresia", - "abnormal palpebral fissure", - "abnormal face morphology", - "ocular adnexa", - "camera-type eye", - "delayed growth", - "abnormal eyeball of camera-type eye", - "increased anatomical entity length in independent continuant", - "abnormal location of eyeball of camera-type eye", + "Cafe-au-lait spot", "anatomical line", + "decreased qualitatively anatomical structure development", + "immaterial anatomical entity phenotype", + "non-material anatomical boundary phenotype", + "absent multicellular anatomical structure in the limb", + "Abnormality of the eye", + "increased length of the immaterial anatomical entity", + "subdivision of oviduct phenotype", + "ectoderm-derived structure phenotype", + "regulation of biosynthetic process", + "immaterial anatomical entity", + "Abnormal digestive system morphology", + "Abnormal CNS myelination", + "increased length of the anatomical line", + "viscus phenotype", + "regional part of nervous system", + "Abnormal midface morphology", + "location of eyeball of camera-type eye phenotype", + "anatomical line phenotype", + "organism subdivision phenotype", + "Hypoplastic facial bones", + "respiratory system phenotype", + "absent multicellular anatomical structure in the skeletal system", + "delayed biological_process", + "multicellular organism morphology phenotype", + "absent anatomical structure in the head", + "axon ensheathment", + "delayed myelination", + "glial cell differentiation", + "myelination", + "absent subdivision of tube in the female reproductive system", + "myelination phenotype", + "root", + "delayed central nervous system myelination", + "multicellular organism development", + "Hypoplastic male external genitalia", + "ensheathment of neurons phenotype", + "appendage", + "central nervous system myelination phenotype", + "skeletal system phenotype", + "Abnormal mandible morphology", + "anatomical structure development", + "oligodendrocyte development", + "absent anatomical entity", + "decreased size of the eyeball of camera-type eye", + "central nervous system myelination", + "bone of lower jaw phenotype", + "Abnormal myelination", + "cellular process", + "long bone morphology phenotype", + "delayed cellular process", + "dermal skeleton", + "phenotypic effect", + "female reproductive system", + "cellular process phenotype", + "limb segment", + "external genitalia phenotype", + "cellular developmental process", + "limb long bone phenotype", + "facial skeleton morphology phenotype", + "nervous system development", + "anatomical structure phenotype", + "decreased anatomical structure development", "Talipes equinovarus", - "absent kidney in the renal system", + "leg", + "Abnormality of the lower limb", "Hypermelanotic macule", - "Abnormal foot morphology", + "lower limb segment", + "Abnormal palate morphology", + "Abnormality of digestive system physiology", + "Abnormal cell morphology", + "leg phenotype", + "subdivision of skeletal system phenotype", + "incomplete closing of the secondary palate", + "integument", + "pelvic appendage", + "pes morphology phenotype", + "internal genitalia", + "Bilateral talipes equinovarus", "Aplasia/hypoplasia of the uterus", "Hyperpigmentation of the skin", - "Bilateral talipes equinovarus", + "Positional foot deformity", + "absent anatomical entity in the multicellular organism", + "Microphthalmia", + "pelvic complex", + "posterior region of body", + "hindlimb morphology phenotype", + "Decreased external ear position", + "Decreased anatomical entity position", + "cellular organisms", + "regulation of cellular metabolic process", + "arm phenotype", + "location of ear phenotype", + "skeleton of pectoral complex", + "specifically dependent continuant", + "Abnormal location of ears", + "Low-set ears", + "irregular bone", + "Abnormal jaw morphology", + "digestive system morphology phenotype", + "absent bone of pectoral complex in the limb", + "intramembranous bone", + "Abnormality of the genital system", + "mouth", + "Aplasia/Hypoplasia of the mandible", + "primary subdivision of cranial skeletal system", + "absent forelimb endochondral element in the limb", + "embryo development rate phenotype", + "Aplasia/Hypoplasia involving bones of the skull", + "absent radius endochondral element", "aplasia or hypoplasia of mandible", - "blood cell", + "facial bone hypoplasia", "Abnormality of the genitourinary system", - "head bone", - "Aplasia/Hypoplasia involving bones of the skull", - "cell", - "Abnormality of the mouth", - "anus", + "bone of craniocervical region phenotype", + "digestive system element phenotype", + "Abnormal eye morphology", + "head bone morphology phenotype", + "manual digit morphology in the manus phenotype", + "neural crest-derived structure phenotype", + "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", + "absent subdivision of head in the head", + "dentary phenotype", + "metencephalon morphology phenotype", + "regulation of macromolecule biosynthetic process", + "mandible", + "increased number of brain ventricle", + "facial bone", + "immune system", + "facial skeleton", + "absent abdomen element in the renal system", + "jaw skeleton", + "dermal bone", + "absent radius bone", + "cranial skeletal system", + "Wide nasal bridge", + "postcranial axial skeletal system", + "absent multicellular anatomical structure in the ear", + "primary subdivision of skull", + "thoracic segment organ phenotype", + "Micrognathia", + "bone element hypoplasia in face", + "flattened anatomical entity", + "neural crest-derived structure", + "dermal skeletal element phenotype", + "nasal bridge morphology phenotype", + "absent kidney in the renal system", + "subdivision of tube phenotype", + "Abnormality of the uterus", + "membrane bone phenotype", + "Abnormal oral morphology", + "absent arm bone in the forelimb", "Abnormal skull morphology", - "pectoral complex", - "dermatocranium", - "abnormal jaw skeleton morphology", - "facial bone hypoplasia", + "skull morphology phenotype", + "Delayed CNS myelination", + "oral cavity", + "organ component layer phenotype", + "behavior process phenotype", + "programmed DNA elimination by chromosome breakage", + "dentary", + "lower jaw region", + "Abnormal metencephalon morphology", + "absent skeletal element", + "Aplasia involving bones of the extremities", + "Aplasia involving forearm bones", + "absent forelimb bone in the forelimb", + "radius bone morphology phenotype", + "absent radius endochondral element in the forelimb", + "absent limb bone in the limb", + "aplastic forelimb zeugopod bone", + "zeugopodial skeleton", + "forelimb long bone", + "arm bone", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "mandible hypoplasia", + "Aplasia involving bones of the upper limbs", + "shape anatomical entity", + "absent forelimb zeugopod bone in the forelimb", + "forelimb endochondral element", + "increased width of material anatomical entity", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "Aplasia/Hypoplasia of the cerebellum", + "entire sense organ system", + "decreased rate of behavior process", + "absent bone of pectoral complex", + "absent subdivision of oviduct", + "regulation of cellular biosynthetic process", + "absent limb endochondral element in the forelimb", + "number of anatomical enitites of type endochondral bone phenotype", + "delayed axon ensheathment", + "number of anatomical enitites of type organ phenotype", + "closing of the organ part", + "absent forelimb endochondral element in the forelimb", + "closing of the thoracic segment organ", + "absent endochondral bone in the limb", + "autopod region", + "absent anatomical structure in the ear", + "cell differentiation", + "forelimb zeugopod bone morphology phenotype", + "tissue", + "absent anatomical structure in the skeletal system", + "trunk region element atresia", + "absent bone of free limb or fin in the forelimb", + "radius bone phenotype", + "forelimb long bone phenotype", + "number of anatomical enitites of type bone element phenotype", + "aplasia or hypoplasia of fused sacrum", + "absent limb long bone in the forelimb", + "absent forelimb bone in the limb", + "Abnormal morphology of the radius", + "absent bone element", + "absent forelimb bone", + "absent endochondral element in the forelimb", + "decreased size of the organ", + "absent organ", + "absent bone of appendage girdle complex in the limb", + "hindbrain", + "decreased size of the material anatomical entity", + "Absent forearm bone", + "oviduct", + "forelimb bone phenotype", + "absent limb bone", + "Aplasia/Hypoplasia of the radius", + "absent organ in the limb", + "behavior phenotype", "segmental subdivision of hindbrain", - "digit 1 or 5", - "bone of jaw", - ], - "has_phenotype_count": 36, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0010953", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group E", - "full_name": None, - "deprecated": None, - "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", - "xref": ["DOID:0111084", "GARD:15324", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCE", - "FANCE Fanconi anaemia", - "FANCE Fanconi anemia", - "Fanconi Anemia, complementation group type E", - "Fanconi anaemia caused by mutation in FANCE", - "Fanconi anaemia complementation group type E", - "Fanconi anemia caused by mutation in FANCE", - "Fanconi anemia complementation group E", - "Fanconi anemia complementation group type E", - "Fanconi anemia, complementation group E", - "face", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0000086", - "HP:0001875", - "HP:0009777", - "HP:0001249", - "HP:0000252", - "HP:0001627", - "HP:0000957", - "HP:0000815", - "HP:0000104", - "HP:0001017", - "HP:0001876", - "HP:0000028", - "HP:0003974", - "HP:0001873", - "HP:0009778", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0001263", - "HP:0003221", - "HP:0009943", - "HP:0000978", - "HP:0000953", - "HP:0001903", - "HP:0001909", - "HP:0000081", - "HP:0004322", - "HP:0000486", - "HP:0000365", - "HP:0003214", - "HP:0003213", - "HP:0000085", - ], - "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", + "absent endochondral element", + "absent organ in the forelimb", + "arm bone phenotype", + "Abnormal hindbrain morphology", + "delayed growth", + "negative regulation of macromolecule metabolic process", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "thoracic cavity element atresia", + "skin of body", + "absent endochondral bone", + "bone of pectoral complex phenotype", + "absent radius bone in the forelimb", + "Disinhibition", + "Abnormal forearm bone morphology", + "absent long bone", + "absent bone of pectoral complex in the forelimb", + "digestive system element", + "Orofacial cleft", + "absent arm bone", + "reproductive organ", + "multi-limb segment region phenotype", + "olfactory organ phenotype", + "absent bone element in the limb", + "absent material anatomical entity in the ear", + "Aplasia/hypoplasia involving forearm bones", + "long bone phenotype", + "integument phenotype", + "vision/eye phenotype", + "secondary palate morphology phenotype", + "absent forelimb zeugopod bone", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "Growth delay", + "radius bone", + "growth phenotype", + "embryo development phenotype", + "Abnormal tracheobronchial morphology", + "embryo development", + "decreased qualitatively developmental process", + "Intrauterine growth retardation", + "multicellular organism development phenotype", + "developmental process phenotype", + "anatomical structure development phenotype", + "decreased embryo development", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", + "size of eyeball of camera-type eye phenotype", + "Abnormal gastrointestinal tract morphology", + "Aplasia/Hypoplasia affecting the eye", + "absent uterus in the female reproductive system", + "absent material anatomical entity in the head", + "absent lateral structure", + "abdominal segment bone phenotype", + "increased size of the anatomical entity", + "absent lateral structure in the head", + "limb skeleton subdivision", + "absent anatomical entity in the ear", + "Anotia", + "aplasia or hypoplasia of manual digit 1", + "absent subdivision of head", + "male reproductive system", + "absent anatomical entity in the head", + "incomplete closing of the multi-tissue structure", + "female reproductive system morphology phenotype", + "internal female genitalia", + "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid", + "closing of the material anatomical entity", + "upper limb segment", + "biological_process phenotype", + "biological_process", + "bone marrow cell", + "absent limb endochondral element in the limb", + "absent anatomical structure in the female reproductive system", + "forelimb", + "Aplasia of the uterus", + "absent organ part in the female reproductive system", + "absent subdivision of tube", + "hematopoietic system phenotype", + "reproductive structure phenotype", + "female reproductive organ morphology phenotype", + "absent material anatomical entity in the female reproductive system", + "system development", + "absent reproductive structure", + "appendage phenotype", + "number of anatomical enitites of type subdivision of tube phenotype", + "blood cell", + "aplasia or hypoplasia of uterus", + "absent material anatomical entity in the reproductive system", + "limb bone", + "subdivision of oviduct", + "subdivision of tube atresia", + "absent limb long bone", + "internal female genitalia morphology phenotype", + "absent multicellular anatomical structure in the reproductive system", + "Abnormal myeloid cell morphology", + "absent bone of free limb or fin in the limb", + "segmental subdivision of nervous system", + "genitourinary system", + "absent reproductive structure in the reproductive system", + "reproductive structure", + "female organism", + "absent anatomical entity in the female reproductive system", + "multicellular organismal process", + "absent reproductive structure in the female reproductive system", + "Abnormal morphology of female internal genitalia", + "location of external ear phenotype", + "decreased qualitatively behavior", + "absent multicellular anatomical structure in the female reproductive system", + "Neurodevelopmental abnormality", + "Neurodevelopmental delay", + "closing of the organ", + "closing of the trunk region element", + "closing of the anatomical system", + "closing of the anatomical entity", + "mandible morphology phenotype", + "esophagus atresia", + "organ part atresia", + "anatomical structure atresia", + "anatomical entity atresia", + "process", + "gliogenesis", + "Gastrointestinal atresia", + "subdivision of digestive tract atresia", + "Esophageal atresia", + "anatomical system atresia", + "thoracic cavity element phenotype", + "jaw skeleton morphology phenotype", + "multicellular anatomical structure atresia", + "material anatomical entity atresia", + "digestive system physiology phenotype", + "anatomical point phenotype", + "Feeding difficulties", + "Microtia", + "regional part of brain phenotype", + "Eumetazoa", + "increased number of anatomical entity in the cerebrospinal fluid", + "cerebellum hypoplasia", + "brain ventricle", + "regional part of nervous system phenotype", + "Abnormal nervous system morphology", + "cerebellum", + "external genitalia", + "regional part of brain", + "midface morphology phenotype", + "incomplete closing of the ectoderm-derived structure", + "eyeball of camera-type eye phenotype", + "increased size of the anatomical structure", + "increased number of multicellular anatomical structure in the cerebrospinal fluid", + "midface", + "head bone", + "nasal bridge phenotype", + "bone cell", + "nose morphology phenotype", + "vestibulo-auditory system", + "bone element phenotype", + "male reproductive system phenotype", + "olfactory organ", + "increased width of anatomical entity", + "nose", + "Abnormality of the palpebral fissures", + "decreased developmental process", + "snout", + "decreased qualitatively embryo development", + "increased width of ectoderm-derived structure", + "anatomical collection", + "Macule", + "regulation of macromolecule metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "digestive system element atresia", + "increased width of nasal bridge", + "increased width of anatomical structure", + "nose phenotype", + "Abnormal cerebrospinal fluid morphology", + "negative regulation of biological process", + "incomplete closing of the neural crest-derived structure", + "oral cavity morphology phenotype", + "Craniofacial cleft", + "roof of mouth morphology phenotype", + "anatomical cavity", + "Abnormal oral cavity morphology", + "incomplete closing of the anatomical structure", + "Hydrocephalus", + "incomplete closing of the multicellular anatomical structure", + "penis phenotype", + "absent external ear in the head", + "Abnormal male external genitalia morphology", + "brain ventricle/choroid plexus morphology phenotype", + "external male genitalia", + "respiratory system morphology phenotype", + "intromittent organ", + "Abnormal foot morphology", + "External genital hypoplasia", + "male organism", + "social behavior", + "forelimb zeugopod skeleton", + "male reproductive organ phenotype", + "external male genitalia phenotype", + "Cerebellar hypoplasia", + "Hypoplasia of penis", + "Abnormal external genitalia", + "multicellular anatomical structure", + "hematopoietic system", + "anus atresia", + "bone marrow", + "mouth phenotype", + "digit phenotype", + "immune system phenotype", + "Bone marrow hypocellularity", + "Abnormal external nose morphology", + "flat nose tip", + "curvature anatomical entity", + "external nose", + "nose tip morphology phenotype", + "oligodendrocyte differentiation", + "Abnormal nasal tip morphology", + "anatomical entity physiology phenotype", + "erythrocyte", + "external nose morphology phenotype", + "manual digit phenotype", + "oxygen accumulating cell", + "limb segment phenotype", + "erythroid lineage cell morphology phenotype", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "hematopoietic cell", + "Abnormality of the integument", + "integumental system", + "musculature", + "Localized skin lesion", + "pigmentation", + "ectoderm-derived structure", + "skin of body phenotype", + ], + "has_phenotype_count": 36, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0010953", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group E", + "full_name": None, + "deprecated": None, + "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", + "xref": ["DOID:0111084", "GARD:15324", "MEDGEN:463628", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCE", + "FANCE Fanconi anaemia", + "FANCE Fanconi anemia", + "Fanconi Anemia, complementation group type E", + "Fanconi anaemia caused by mutation in FANCE", + "Fanconi anaemia complementation group type E", + "Fanconi anemia caused by mutation in FANCE", + "Fanconi anemia complementation group E", + "Fanconi anemia complementation group type E", + "Fanconi anemia, complementation group E", + "face", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001875", + "HP:0009777", + "HP:0001249", + "HP:0000086", + "HP:0000252", + "HP:0000815", + "HP:0000104", + "HP:0001017", + "HP:0001876", + "HP:0000028", + "HP:0003974", + "HP:0001873", + "HP:0009778", + "HP:0001896", + "HP:0000568", + "HP:0001518", + "HP:0001263", + "HP:0003221", + "HP:0009943", + "HP:0000978", + "HP:0001627", + "HP:0000953", + "HP:0000957", + "HP:0001903", + "HP:0001909", + "HP:0000081", + "HP:0004322", + "HP:0000486", + "HP:0000365", + "HP:0003214", + "HP:0003213", + "HP:0000085", + ], + "has_phenotype_label": [ + "Neutropenia", + "Absent thumb", + "Intellectual disability", + "Ectopic kidney", + "Microcephaly", + "Hypergonadotropic hypogonadism", + "Renal agenesis", + "Anemic pallor", + "Pancytopenia", + "Cryptorchidism", + "Absent radius", + "Thrombocytopenia", + "Short thumb", + "Reticulocytopenia", + "Microphthalmia", + "Small for gestational age", + "Global developmental delay", + "Chromosomal breakage induced by crosslinking agents", + "Complete duplication of thumb phalanx", "Bruising susceptibility", + "Abnormal heart morphology", "Hyperpigmentation of the skin", + "Cafe-au-lait spot", "Anemia", "Leukemia", "Duplicated collecting system", @@ -3678,105 +4577,141 @@ def autocomplete(): "Horseshoe kidney", ], "has_phenotype_closure": [ - "HP:0000085", - "UPHENO:0041465", - "UPHENO:0082444", "UPHENO:0041226", - "UPHENO:0082129", + "UPHENO:0041465", "UPHENO:0041629", - "GO:0051716", - "GO:0006950", - "HP:0003213", "UPHENO:0051124", - "HP:0003254", + "GO:0046483", + "UPHENO:0050116", + "UPHENO:0049586", "UPHENO:0049964", - "GO:0007049", + "GO:0044238", + "GO:0006950", + "GO:0051716", + "HP:0003213", + "UPHENO:0050121", "GO:0051319", - "UPHENO:0050625", - "HP:0000364", + "GO:0007049", + "HP:0003214", + "UPHENO:0052160", + "UPHENO:0050620", "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", + "GO:0009987", + "HP:0000365", + "UPHENO:0005596", "UBERON:0002105", "UPHENO:0041075", "GO:0007600", - "GO:0007610", - "HP:0000708", + "UPHENO:0052159", + "UPHENO:0052970", + "UPHENO:0050625", + "UPHENO:0049699", + "UPHENO:0049703", + "GO:0006807", + "HP:0031704", + "UPHENO:0049989", + "UPHENO:0005512", + "GO:0050954", + "UPHENO:0005518", + "UPHENO:0050106", "HP:0000549", - "HP:0000486", - "UPHENO:0049622", + "HP:0000708", "NBO:0000444", - "HP:0000496", - "UBERON:0010222", - "UPHENO:0080585", - "UBERON:0006800", - "BFO:0000141", + "UPHENO:0002219", + "NBO:0000338", "UPHENO:0079828", + "GO:0007610", + "UPHENO:0002211", + "HP:0000496", "HP:0011018", "UBERON:0000015", - "GO:0050896", - "UPHENO:0049586", - "NBO:0000338", - "UBERON:0000466", - "UPHENO:0081424", - "UPHENO:0080351", + "UBERON:0010222", + "BFO:0000141", + "HP:0000486", "UPHENO:0000543", - "UPHENO:0081423", + "HP:0001510", + "HP:0004322", + "UPHENO:0080351", "UPHENO:0075159", - "HP:0000081", "UPHENO:0075787", - "HP:0002664", - "HP:0011793", + "UPHENO:3000003", "HP:0001909", - "HP:0004377", + "HP:0002664", + "UPHENO:0054970", + "GO:0043473", + "UPHENO:0050234", + "UPHENO:0080662", + "UPHENO:0054957", + "UBERON:0000948", + "HP:0001627", + "HP:0030680", + "UPHENO:0050019", + "UBERON:0005181", + "UBERON:0005178", "HP:0002597", - "HP:0001892", - "HP:0011029", - "UPHENO:0002678", - "UBERON:0000477", - "HP:0000978", - "UPHENO:0051097", "HP:0001933", + "GO:0071704", + "MPATH:105", + "UPHENO:0002678", "UBERON:0007798", - "GO:0003013", - "GO:0008015", - "HP:0009943", + "MPATH:603", + "MPATH:119", + "GO:0006139", + "HP:0011354", + "UBERON:0000477", + "HP:0001626", + "UBERON:0001009", + "MPATH:0", + "HP:0001892", + "MPATH:1000", + "UBERON:0015063", + "UBERON:5106048", + "UBERON:5102389", + "UBERON:0010688", + "UBERON:0011818", "HP:0011314", - "HP:0009602", - "UPHENO:0087369", - "HP:0009942", - "UBERON:0003221", - "UBERON:0012357", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0021800", - "UPHENO:0084447", - "GO:0022403", - "UBERON:0004249", - "UBERON:5106048", - "UBERON:5102389", - "UBERON:0010688", + "GO:0090304", + "UBERON:0012150", + "HP:0009942", + "HP:0009943", + "UBERON:0003221", + "UBERON:0012357", "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0080581", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0000541", - "UBERON:0001436", - "GO:0010468", + "UPHENO:0049757", + "UPHENO:0049775", + "UPHENO:0050784", + "HP:0009602", + "UPHENO:0050126", + "HP:0001939", "NBO:0000313", "GO:0010558", "GO:0031327", - "GO:0006325", - "UPHENO:0049700", + "UBERON:0000915", + "UPHENO:0050065", + "UPHENO:0049904", + "GO:0050794", + "GO:0019222", + "GO:0008152", + "GO:0051325", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UPHENO:0050025", + "UPHENO:0049622", + "UPHENO:0050435", + "UBERON:0000466", + "UPHENO:0049868", + "GO:0042592", + "UPHENO:0049743", + "UPHENO:0050063", + "UBERON:0002075", + "GO:0031049", + "GO:0031052", "GO:0010556", "GO:0031326", "GO:0009890", @@ -3784,1464 +4719,1747 @@ def autocomplete(): "UBERON:0005897", "GO:0010605", "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0008152", - "HP:0000365", - "GO:0009987", "GO:0050789", - "GO:0044238", - "HP:0031704", - "GO:0006807", - "GO:0071704", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", - "HP:0001939", - "UPHENO:0050845", + "HP:0003221", + "GO:0010629", + "UPHENO:0050040", + "UPHENO:0050778", "HP:0001263", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", "UPHENO:0082794", + "UPHENO:0010799", "GO:0040007", - "UPHENO:0049874", - "UPHENO:0010763", + "UPHENO:0010850", + "UPHENO:0054374", "UBERON:0010543", "HP:0001507", - "UPHENO:0054299", - "UBERON:0000047", - "HP:0000568", - "UPHENO:0075219", + "UPHENO:0054304", + "UPHENO:0010808", + "GO:0006974", + "HP:0004323", + "UPHENO:0049874", + "UBERON:0010230", + "UPHENO:0049642", + "UBERON:0001456", "UBERON:0004088", "UBERON:0004456", + "UBERON:0000019", + "HP:0000568", + "HP:0000315", "UPHENO:0069523", - "UPHENO:0080209", - "GO:0033554", - "UBERON:0000970", - "UBERON:0001456", + "HP:0008056", + "HP:0011793", + "UPHENO:0002928", "UPHENO:0087924", - "HP:0100887", "HP:0000478", + "UPHENO:0002866", + "HP:0100887", "UPHENO:0002910", - "UPHENO:0020041", - "HP:0000271", - "HP:0011025", - "HP:0000315", - "UPHENO:0087472", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", - "UBERON:0000020", - "HP:0004312", + "GO:0033554", + "UBERON:0000970", + "HP:0000978", + "UPHENO:3000007", + "UPHENO:0069161", + "UPHENO:0075219", "HP:0001896", + "UPHENO:0052178", + "UPHENO:0005517", + "UPHENO:0085263", "UPHENO:0086002", + "UPHENO:0088148", + "HP:0001877", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "HP:0004312", "UPHENO:0049588", "CL:0000558", + "UPHENO:0046411", + "UPHENO:0046445", + "UPHENO:0069236", + "UPHENO:0012312", + "UPHENO:0069327", + "GO:0006259", + "UPHENO:0046426", + "GO:0050896", + "UPHENO:0046483", + "HP:0009778", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010468", + "UPHENO:0012440", + "UPHENO:0074575", + "UPHENO:0046707", + "UPHENO:0069605", + "UPHENO:0002403", + "HP:0009381", + "UPHENO:0069674", + "UPHENO:0069266", + "UPHENO:0069684", "UPHENO:0046505", + "UPHENO:0046552", + "UPHENO:0046528", + "HP:0003974", + "UPHENO:0025547", + "UPHENO:0025883", + "UPHENO:0026096", + "GO:0022403", + "UBERON:0004249", + "UPHENO:0025546", + "UPHENO:0076754", + "UPHENO:0026095", + "UPHENO:0025808", + "HP:0006501", + "UPHENO:0008430", + "UPHENO:0026806", + "UPHENO:0008604", + "UBERON:0015021", + "UPHENO:0025652", + "HP:0003220", + "UPHENO:0026811", + "UPHENO:0002967", + "UPHENO:0009337", + "UPHENO:0008475", + "UPHENO:0075944", "UPHENO:0088186", - "HP:0009381", - "UPHENO:0002433", - "CL:0000233", - "UPHENO:0026506", - "UBERON:0015061", + "UPHENO:0025852", + "HP:0001034", + "UPHENO:0011568", + "UPHENO:0076810", + "UPHENO:0004507", + "UPHENO:0025961", + "UPHENO:0009391", + "GO:0065007", + "UPHENO:0025855", + "UPHENO:0009344", + "UPHENO:0076718", + "UPHENO:0025136", + "UPHENO:0025882", + "UPHENO:0025811", + "UPHENO:0009115", + "UBERON:0002386", + "UBERON:0003607", + "HP:0001249", + "UPHENO:0002568", "UBERON:0003129", - "UBERON:0010708", - "UBERON:0012139", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", + "UPHENO:0049587", + "BFO:0000015", + "HP:0000815", + "UPHENO:0002586", + "HP:0011446", + "UPHENO:0003093", + "UPHENO:0002944", + "UBERON:0002471", + "UPHENO:0002926", + "UPHENO:0003065", + "UPHENO:0004757", + "UPHENO:0011531", + "CL:0000232", "UPHENO:0080352", "UBERON:0000075", "HP:0009815", "CL:0000775", - "NBO:0000001", - "UBERON:0034925", - "UPHENO:0088176", - "UBERON:0019221", - "GO:0044848", - "UBERON:0001460", - "UBERON:0002513", - "UBERON:0011138", - "GO:0022414", - "NCBITaxon:2759", - "UBERON:0006717", - "UPHENO:0001003", - "UPHENO:0076810", - "CL:0000225", - "UBERON:0011582", - "GO:0006996", - "HP:0008678", - "UPHENO:0085263", - "UPHENO:0052178", - "UPHENO:0076727", - "HP:0005927", - "UBERON:0003101", - "UBERON:0002204", - "UPHENO:0080300", - "UPHENO:0009382", - "UBERON:0004708", - "UPHENO:0085068", - "UPHENO:0021474", - "UBERON:5001463", - "UPHENO:0084448", - "UBERON:0010363", - "HP:0002977", - "HP:0001167", - "HP:0040064", + "UPHENO:0049652", + "UPHENO:0012274", + "UPHENO:0066913", + "UPHENO:0053644", + "UPHENO:0026506", + "UPHENO:0002352", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0086700", + "UPHENO:0084763", "HP:0045060", + "HP:0009380", + "UPHENO:0002378", + "UPHENO:0011548", + "HP:0000085", + "UPHENO:0026108", + "UPHENO:0026640", "UPHENO:0086633", - "HP:0009777", + "GO:0048519", + "UBERON:0006058", + "HP:0000598", + "UPHENO:0002731", + "UPHENO:0026344", "UPHENO:0026183", - "UPHENO:0002905", - "UPHENO:0076723", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0086172", - "UPHENO:0081435", - "PATO:0000001", - "UBERON:0019231", - "UPHENO:0002844", - "BFO:0000015", - "UPHENO:0049587", - "UBERON:0000026", - "GO:0043933", - "UPHENO:0002896", - "UBERON:0000153", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "HP:0009778", "UPHENO:0080325", - "UPHENO:0002642", "UBERON:0015203", + "UPHENO:0002642", + "UBERON:0002428", + "UBERON:0007272", + "UPHENO:0004476", + "HP:0009822", + "UBERON:0003101", + "UPHENO:0003069", + "UPHENO:0002648", + "HP:0000078", + "UPHENO:0049671", + "HP:0009601", + "HP:0000002", + "HP:0000953", + "UPHENO:0076740", + "HP:0000271", + "UPHENO:0053571", + "UPHENO:0003799", + "UPHENO:0026643", + "UPHENO:0008548", + "UPHENO:0002896", + "UBERON:0000153", + "UPHENO:0084448", + "UBERON:0006800", + "UPHENO:0011931", + "UPHENO:0002659", + "UPHENO:0080114", + "UPHENO:0011825", + "UPHENO:0009146", + "UBERON:0012358", + "CL:0000000", + "UPHENO:0087006", + "UPHENO:0009021", + "UBERON:0001440", + "UPHENO:0069062", + "UBERON:0001015", + "UPHENO:0049873", + "UPHENO:0011572", + "UPHENO:0003088", + "HP:0002818", + "HP:0002813", + "UPHENO:0052231", + "HP:0000028", + "UBERON:0002091", + "UPHENO:0087518", + "OBI:0100026", + "UBERON:0003135", + "UBERON:0012140", + "UBERON:0005451", + "HP:0011297", + "UPHENO:0002632", + "UBERON:0015212", + "UPHENO:0008523", + "UPHENO:0003095", + "UBERON:0000383", + "HP:0000081", + "UPHENO:0053632", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0052165", + "HP:0011873", + "UBERON:0004375", + "UPHENO:0085356", + "UPHENO:0046741", + "CL:0000225", + "UBERON:0011582", + "HP:0008678", + "UPHENO:0050008", + "HP:0006496", + "UBERON:0001434", + "HP:0003254", + "UPHENO:0011817", + "UPHENO:0080300", + "UPHENO:0009382", + "UBERON:5001463", + "UPHENO:0002945", + "UPHENO:0046740", + "UPHENO:0025176", + "UBERON:0012141", + "UPHENO:0002976", "UPHENO:0049952", "HP:0040068", "UPHENO:0002708", - "UBERON:0012141", + "UBERON:0011250", + "UPHENO:0086176", + "UBERON:0010758", + "UPHENO:0025585", + "UPHENO:0005437", + "UPHENO:0004523", + "HP:0009115", + "HP:0001167", + "HP:0040064", + "UPHENO:0002526", + "UPHENO:0002430", + "UBERON:0002090", + "UBERON:0012139", "UPHENO:0082761", "CL:0000738", - "HP:0000027", - "UPHENO:0086700", - "UPHENO:0086019", - "HP:0012759", - "UBERON:0002097", - "UBERON:0003135", - "UBERON:0012140", - "UBERON:0005451", - "HP:0009822", - "UBERON:0002428", - "UPHENO:0054957", - "UBERON:0007272", - "GO:0050890", - "UBERON:0000073", - "GO:0034641", - "HP:0000929", - "HP:0010461", - "UPHENO:0053644", + "GO:0003008", + "UBERON:0010538", + "HP:0002977", + "UBERON:0004708", + "UPHENO:0009209", + "UPHENO:0002593", + "HP:0002817", + "UPHENO:0001001", + "CL:0002422", + "CL:0000763", + "HP:0000135", + "UBERON:0010000", + "UPHENO:0002576", + "BFO:0000003", + "PR:000050567", + "UBERON:5002389", "UBERON:8450002", - "UPHENO:0084763", - "HP:0010935", - "UPHENO:0088148", - "UPHENO:0049940", - "UBERON:0003103", - "UBERON:5006048", - "UBERON:0003133", + "BFO:0000040", + "UBERON:0012475", + "UPHENO:0002880", + "HP:0001518", + "HP:0100547", + "UPHENO:0085354", + "UPHENO:0066927", + "UPHENO:0002600", + "HP:0040072", + "UBERON:0010912", + "CL:0000094", + "UPHENO:0076739", + "UBERON:0008785", + "CL:0000255", + "UBERON:0000479", "UBERON:0005881", "UBERON:0001062", - "UPHENO:0088321", - "UPHENO:0049367", + "CL:0000081", + "UPHENO:0052161", + "UPHENO:0002554", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0008743", + "UPHENO:0076692", + "UBERON:0012151", + "HP:0011017", + "NCBITaxon:33208", + "HP:0009777", + "UBERON:0010708", "UPHENO:0075997", "UBERON:0002371", - "UPHENO:0049671", - "HP:0009601", - "HP:0012373", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0002803", - "UBERON:0005172", - "CL:0001035", - "BFO:0000040", - "UPHENO:0084766", - "UBERON:0015212", - "UPHENO:0059829", - "HP:0011991", - "UBERON:0011250", - "UPHENO:0086176", - "UBERON:0010758", - "UPHENO:0087846", - "UPHENO:0085195", - "UBERON:0010000", - "UBERON:0002390", - "BFO:0000004", + "HP:0001911", + "UBERON:0006048", "UBERON:5002544", "UPHENO:0087510", "GO:0006281", "BFO:0000002", - "HP:0012639", - "UPHENO:0085984", - "HP:0020047", - "GO:0007276", - "HP:0001874", - "UPHENO:0076692", + "UPHENO:0053559", "UPHENO:0002536", - "UBERON:0012151", - "HP:0011017", - "NCBITaxon:33208", + "UPHENO:0011536", + "HP:0040012", + "UBERON:0010707", + "UBERON:0002101", + "UPHENO:0002861", + "UBERON:0004120", + "UPHENO:0069064", + "HP:0001874", + "NCBITaxon:2759", + "HP:0007364", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0026813", + "UBERON:0003606", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0011584", + "UPHENO:0025509", + "UPHENO:0010795", + "UPHENO:0027014", + "HP:0009997", + "HP:0001875", + "UPHENO:0009163", + "UBERON:0010712", + "HP:0000080", + "HP:0025354", + "UPHENO:0085371", + "UPHENO:0011573", + "UPHENO:0087349", + "UBERON:0002389", + "UBERON:0000468", + "UPHENO:0068971", + "UPHENO:0008668", + "UBERON:0002193", + "UBERON:0001444", + "UPHENO:0002969", + "UPHENO:0018390", + "UPHENO:0080099", + "CL:0000219", + "UBERON:0000062", + "HP:0000364", + "UPHENO:0009356", + "HP:0007400", + "HP:0033127", + "UPHENO:0008865", + "UPHENO:0079876", + "HP:0020047", + "UPHENO:0076723", + "CL:0001035", + "HP:0002715", + "UPHENO:0002301", + "UPHENO:0026097", + "UPHENO:0002433", + "UPHENO:0002949", + "UPHENO:0026309", + "CL:0000233", + "CL:0000151", + "UPHENO:0002963", + "HP:0011991", + "UPHENO:0009399", + "HP:0025461", + "UPHENO:0053566", + "UPHENO:0076805", + "CL:0000766", + "UPHENO:0008703", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "HP:0001881", "HP:0009998", - "GO:0016043", - "UPHENO:0015280", "UPHENO:0075902", - "HP:0001881", - "UBERON:0002049", - "UBERON:0001016", - "HP:0011446", - "UBERON:0005173", - "UBERON:0005177", + "UPHENO:0002733", + "UPHENO:0085344", + "UPHENO:0076779", + "GO:1901360", + "UPHENO:0025211", + "HP:0000980", + "UBERON:0000061", + "UPHENO:0011749", + "UPHENO:0081451", + "UPHENO:0076724", "HP:0005922", "UBERON:0000467", + "UPHENO:0002360", + "UBERON:0011216", + "HP:0010974", + "UPHENO:0002870", + "UPHENO:0002525", + "UPHENO:0077348", + "UBERON:0002470", + "UPHENO:0053612", + "CL:0002242", + "UPHENO:0026227", + "UPHENO:0081424", + "UPHENO:0003049", + "GO:0008150", + "UPHENO:0026146", + "UPHENO:0077399", + "UPHENO:0002530", + "HP:0012639", + "UPHENO:0003005", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0081566", + "UPHENO:0074584", + "UBERON:0001442", + "HP:0000001", + "UBERON:0002390", + "UPHENO:0003082", + "UPHENO:0088176", + "NBO:0000001", + "UBERON:0034925", + "UPHENO:0053619", + "UPHENO:0009129", + "UPHENO:0053580", + "UPHENO:0076727", + "UPHENO:0025507", + "UBERON:0034923", + "UBERON:0002544", + "UPHENO:0002948", + "UBERON:0000020", + "UPHENO:0003025", + "UPHENO:0025553", + "UPHENO:0005513", + "BFO:0000004", + "UPHENO:0012308", + "UPHENO:0001002", + "HP:0012733", + "UBERON:0003460", + "UBERON:0002204", + "HP:0012372", + "HP:0002060", + "UPHENO:0009020", + "UPHENO:0076675", + "UBERON:0002100", + "UPHENO:0002832", + "UPHENO:0080010", + "HP:0032251", "UPHENO:0002903", "CL:0002092", "UPHENO:0081466", - "UPHENO:0002406", - "UBERON:0001444", - "UPHENO:0018390", - "UBERON:0002193", - "HP:0000077", - "UBERON:0002199", - "UBERON:0005178", - "UPHENO:0049701", - "UBERON:0001008", - "UBERON:0011249", - "UPHENO:0001002", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002371", - "UBERON:0008785", - "CL:0000255", - "UBERON:0002470", - "UPHENO:0075696", + "UPHENO:0077391", + "UBERON:0015061", + "UPHENO:0026630", + "UBERON:0004053", + "UPHENO:0002637", + "UPHENO:0002523", + "UBERON:0019221", + "UPHENO:0085330", + "UPHENO:0076703", + "UBERON:0002529", + "UPHENO:0003056", + "UPHENO:0078606", + "HP:0006265", "HP:0011842", - "GO:0043170", - "HP:0011961", - "UPHENO:0077426", - "HP:0009997", - "HP:0001875", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002101", - "HP:0000152", + "UPHENO:0087123", + "UPHENO:0046624", + "UBERON:0004381", + "UPHENO:0011498", + "UBERON:0011249", + "PATO:0000001", + "UBERON:0010703", + "UBERON:0000955", + "GO:0050890", + "UBERON:0000073", + "GO:0034641", + "UPHENO:0049720", + "HP:0000929", + "HP:0010461", + "UPHENO:0077418", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0025166", + "UBERON:0002513", "GO:0048523", - "HP:0000079", "UPHENO:0026128", - "UPHENO:0085330", - "UPHENO:0076703", - "HP:0003974", - "UBERON:0004120", - "UPHENO:0076779", - "UPHENO:0020950", - "UPHENO:0085344", - "UPHENO:0088335", - "GO:0032501", - "UBERON:0013701", - "UBERON:0002398", - "UBERON:0009569", - "CL:0000081", - "UPHENO:0002598", + "HP:0000079", + "UBERON:0011138", + "UPHENO:0002905", + "UBERON:0002199", + "HP:0000077", + "UPHENO:0026010", + "UBERON:0010741", + "UPHENO:0063722", "UPHENO:0002240", "UBERON:0004765", "UPHENO:0053588", - "UPHENO:0063722", - "HP:0002817", - "UPHENO:0001001", - "UPHENO:0087547", - "CL:0002422", - "CL:0000763", - "UBERON:0008962", - "HP:0012210", - "UBERON:0001463", - "HP:0001877", - "UBERON:0002389", - "UPHENO:0087349", - "UBERON:0000468", - "HP:0000001", - "UPHENO:0074584", - "UBERON:0001442", - "HP:0012638", - "UPHENO:0079876", - "UPHENO:0053580", - "UBERON:0011143", - "UBERON:0000062", - "UPHENO:0080099", - "CL:0000219", - "UPHENO:0085371", - "HP:0025354", - "UBERON:0000465", - "CL:0000988", - "HP:0012372", - "HP:0002060", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0012475", - "UPHENO:0002880", - "HP:0001518", - "HP:0100547", - "HP:0032309", - "UPHENO:0087427", - "CL:0002242", - "UPHENO:0085405", - "UPHENO:0078606", - "HP:0006265", - "UPHENO:0087123", - "UPHENO:0087802", + "GO:0044848", + "UBERON:0001460", + "UPHENO:0025776", + "UPHENO:0086016", + "UPHENO:0005058", "UPHENO:0088170", "UBERON:0010740", - "UPHENO:0086016", - "UBERON:0012358", - "CL:0000000", - "UBERON:0002544", - "UPHENO:0002948", - "HP:0000815", - "GO:0032504", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0002219", - "UPHENO:0006910", - "UBERON:0002529", - "UPHENO:0076739", - "UPHENO:0025100", - "UBERON:0003607", - "UPHENO:0088318", - "HP:0000135", - "UPHENO:0085194", - "UPHENO:0080114", - "UPHENO:0005433", - "HP:0001155", - 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"HP:0000818", - "UBERON:0005156", - "UPHENO:0082875", + "UPHENO:0008825", + "HP:0004325", + "UPHENO:0026504", + "UPHENO:0026600", + "UBERON:0011143", + "UPHENO:0026507", + "NCBITaxon:131567", + "HP:0001017", + "UPHENO:0081423", + "UPHENO:0009011", "HP:0011355", + "UPHENO:0011492", + "UPHENO:0082875", "HP:0000104", + "UBERON:0010363", + "UPHENO:0008816", + "UPHENO:0085302", "UPHENO:0008593", "UPHENO:0026980", - "GO:1901360", - "HP:0000980", - "UBERON:0000061", - "UPHENO:0025211", - "HP:0025461", - "UPHENO:0009399", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "UPHENO:0087089", - "CL:0000764", + "UPHENO:0025661", + "UPHENO:0009010", + "UPHENO:0025631", + "UPHENO:0008827", + "UBERON:0003133", + "UBERON:5006048", + "UPHENO:0026308", + "BFO:0000001", + "UPHENO:0002635", + "UBERON:0004710", + "UPHENO:0002782", + "UPHENO:0088162", + "UPHENO:0054315", + "UBERON:0002416", + "UBERON:0002102", + "UPHENO:0003811", + "UPHENO:0081581", + "RO:0002577", + "HP:0000951", "UBERON:0001474", 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"UPHENO:0080382", - "UPHENO:0085356", - "GO:0019953", - "GO:0000003", - "HP:0001249", - "UBERON:0001968", - "GO:0048609", - "HP:0003953", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0041821", - "HP:0009825", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0015228", - "CL:0000015", - "HP:0008669", - "HP:0000811", - "UPHENO:0086201", - "UPHENO:0053298", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", + "CL:0000457", + "HP:0004275", + "UBERON:0010314", + "UPHENO:0053633", + "HP:0001873", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0000473", "UPHENO:0076941", "UPHENO:0002764", "UPHENO:0002597", - "CL:0000413", - "CL:0000039", - "UBERON:0011216", - "UBERON:0004175", + "HP:0000811", + "UPHENO:0002682", + "HP:0000035", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", + "UPHENO:0002940", + "HP:0001871", + "UBERON:0000079", + "UPHENO:0053610", "UBERON:0004176", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0081511", - "UPHENO:0086635", - "HP:0000240", - "HP:0000812", - "UBERON:0015021", - "UBERON:0002386", - "UPHENO:0086198", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", + "HP:0005918", + "HP:0012243", + "HP:0000032", "UPHENO:0079826", "UBERON:0004122", "UPHENO:0002595", - "UBERON:0015063", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0078452", - "HP:0005918", - "HP:0012243", + "HP:0009823", + "UPHENO:0010763", + "UPHENO:0025955", + "UPHENO:0025545", + "HP:0005927", + "UPHENO:0026486", + "UPHENO:0002738", + "UPHENO:0006894", + "UBERON:0001423", + "UPHENO:0009295", + "HP:0003953", + "UPHENO:0026023", + "UPHENO:0011563", + "UPHENO:0002750", + "UPHENO:0026317", + "UPHENO:0086956", + "UPHENO:0009341", + "UPHENO:0079872", + "UBERON:0004535", + "HP:0009142", + "UBERON:0002495", + "UPHENO:0002751", "UBERON:0013702", "UPHENO:0080187", - "UBERON:0000955", - "UBERON:0010703", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "HP:0040070", "GO:0006725", "UPHENO:0087501", - "UBERON:0010912", - "CL:0000094", - "HP:0040072", - "UPHENO:0079872", - "UPHENO:0009341", - "UBERON:0001423", - "UPHENO:0086956", - "HP:0040070", - "UBERON:0002405", - "UPHENO:0021561", - "UBERON:0003606", - "UPHENO:0005651", - "UPHENO:0076718", - "UBERON:0002104", - "HP:0006503", - "HP:0009142", - "UBERON:0004535", - "UPHENO:0002751", - "UBERON:0002495", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "UBERON:0010741", - "UPHENO:0069254", - "UBERON:0000949", - "UBERON:0003466", - "UPHENO:0012541", - "HP:0004325", - "UPHENO:0031839", - "UPHENO:0046411", - "UBERON:0004381", - "UPHENO:0011498", - "UPHENO:0046624", - "UPHENO:0008668", - "UPHENO:0068971", + "HP:0004377", + "UPHENO:0008709", + "UPHENO:0002594", + "UPHENO:0086019", + "UPHENO:0026312", ], "has_phenotype_closure_label": [ - "Horseshoe kidney", - "shape anatomical entity", "3-D shape anatomical entity", - "U-shaped anatomical entity", - "abnormal response to stress", - "DNA repair", + "shape anatomical entity", + "Horseshoe kidney", "response to stress", - "abnormal cellular response to stress", - "abnormal DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Abnormality of the cell cycle", - "G2 phase", + "Abnormality of DNA repair", + "response to stimulus", + "DNA repair", + "DNA damage response phenotype", + "nucleobase-containing compound metabolic process phenotype", + "organic cyclic compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "metabolic process phenotype", + "macromolecule metabolic process phenotype", "cell cycle phase", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", + "Abnormality of the cell cycle", + "interphase", "ear", - "abnormal ear", + "sensory perception", + "decreased sensory perception", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "anatomical line", - "body part movement", + "decreased qualitatively system process", + "decreased qualitatively sensory perception of sound", + "sensory perception phenotype", + "ear physiology phenotype", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "decreased system process", + "Hearing impairment", + "sense organ physiology phenotype", + "nucleic acid metabolic process phenotype", + "lateral structure physiology phenotype", "immaterial anatomical entity", + "eye movement", + "Strabismus", + "body part movement", + "multicellular organismal process phenotype", + "anatomical line", "behavior", + "decreased qualitatively sensory perception of mechanical stimulus", + "eye physiology phenotype", "concave 3-D shape anatomical entity", "Abnormality of eye movement", - "response to stimulus", - "eye movement", - "abnormal eye movement", - "Strabismus", - "behavior process", - "abnormal response to stimulus", - "Abnormality of body height", + "Atypical behavior", + "camera-type eye physiology phenotype", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "multicellular organism height phenotype", "Short stature", + "size of multicellular organism phenotype", "delayed biological_process", - "abnormal DNA damage response", - "delayed growth", - "abnormal size of multicellular organism", + "Abnormality of body height", + "Abnormal renal collecting system morphology", + "macromolecule metabolic process", + "Duplicated collecting system", "Neoplasm", - "Hematological neoplasm", - "vasculature", + "Leukemia", + "neoplasm phenotype", + "Localized skin lesion", + "Cafe-au-lait spot", + "Macule", + "biological_process rate phenotype", + "increased qualitatively biological_process", + "Hyperpigmentation of the skin", + "Abnormal heart morphology", + "Abnormal cardiovascular system morphology", + "heart morphology phenotype", + "circulatory organ", + "heart plus pericardium", + "thoracic cavity element", + "vascular system", "Abnormality of the vasculature", - "blood circulation", - "Bruising susceptibility", - "Subcutaneous hemorrhage", - "abnormality of cardiovascular system physiology", + "Abnormality of the cardiovascular system", + "anatomical cluster phenotype", "Generalized abnormality of skin", - "Internal hemorrhage", - "Abnormality of blood circulation", "Vascular skin abnormality", - "vascular system", - "Abnormal bleeding", - "abnormal anatomical entity morphology in the skeleton of manus", + "vasculature", + "pigmentation", + "Abnormal finger phalanx morphology", + "Duplication of thumb phalanx", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", "manual digit bone", - "Duplication of bones involving the upper extremities", + "eye movement phenotype", + "manual digit digitopodial skeleton", "phalanx endochondral element", - "manual digit phalanx endochondral element", - "Duplication of phalanx of hand", - "abnormal phalanx morphology", - "acropodial skeleton", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", "phalanx", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "digitopodium bone", "skeleton of manual acropodium", - "manual digitopodium bone", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", + "digitopodium bone", + "regulation of macromolecule metabolic process", "regulation of biosynthetic process", + "pigmentation phenotype", "individual digit of digitopodial skeleton", "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "Abnormality of DNA repair", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "decreased height of the anatomical entity", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "Duplicated collecting system", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "metabolic process", + "regulation of cellular biosynthetic process", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", + "negative regulation of gene expression", "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "negative regulation of cellular process phenotype", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "regulation of cellular biosynthetic process phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Neurodevelopmental delay", + "multicellular organism mass phenotype", + "material anatomical entity mass phenotype", + "decreased anatomical structure mass", + "decreased material anatomical entity mass", "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormal growth", - "decreased anatomical entity mass", - "abnormal cell cycle", - "Duplication of thumb phalanx", - "abnormality of anatomical entity mass", - "sensory system", - "decreased size of the eyeball of camera-type eye", - "simple eye", - "eyeball of camera-type eye", "camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "abnormal camera-type eye morphology", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "entire sense organ system", + "Abnormality of the orbital region", + "camera-type eye morphology phenotype", "Abnormality of the eye", - "abnormal face", + "face phenotype", "orbital region", - "abnormal eyeball of camera-type eye", - "abnormal size of eyeball of camera-type eye", - "visual system", - "Abnormality of the orbital region", - "Abnormality of the face", "sense organ", "Microphthalmia", - "abnormal enucleated reticulocyte morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Non-obstructive azoospermia", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "system process", - "Duplication of hand bones", - "abnormal nitrogen compound metabolic process", - "nervous system process", - "axial skeleton plus cranial skeleton", - "Abnormal appendicular skeleton morphology", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "acropodium region", - "Intellectual disability", - "bone marrow", - "multicellular organismal process", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "size of eyeball of camera-type eye phenotype", + "simple eye", + "sensory system", + "face morphology phenotype", + "Abnormal eye morphology", + "orbital region phenotype", + "number of anatomical enitites of type reticulocyte phenotype", + "decreased number of reticulocyte", + "enucleated reticulocyte", + "reticulocyte", + "enucleated reticulocyte morphology phenotype", + "decreased length of digit 1", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased length of autopodial extension", + "decreased size of the material anatomical entity", + "Short thumb", + "decreased length of multicellular anatomical structure", + "decreased length of manual digit", + "decreased length of anatomical structure", + "decreased length of material anatomical entity", + "decreased size of the organism subdivision", + "decreased size of the anatomical entity", + "decreased length of organism subdivision", + "negative regulation of metabolic process phenotype", + "Short finger", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of radius bone", + "forelimb zeugopod bone phenotype", + "decreased multicellular anatomical structure mass", + "Absent radius", + "absent forelimb zeugopod bone", + "U-shaped anatomical entity", + "long bone phenotype", "Aplasia/hypoplasia involving forearm bones", - "segment of manus", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal immune system morphology", - "genitourinary system", - "decreased qualitatively reproductive process", - "Abnormal skeletal morphology", + "absent bone element in the limb", + "forelimb zeugopod morphology phenotype", + "absent bone of pectoral complex in the forelimb", + "absent long bone", + "bone of pectoral complex morphology phenotype", + "absent forelimb endochondral element in the limb", + "Abnormal forearm bone morphology", + "absent radius bone in the forelimb", + "bone of pectoral complex phenotype", + "limb long bone morphology phenotype", + "absent endochondral bone in the forelimb", + "absent limb endochondral element in the limb", + "delayed growth", + "arm bone phenotype", + "simple eye physiology phenotype", + "absent organ in the forelimb", + "cellular process", + "long bone morphology phenotype", + "absent endochondral element", + "absent organ in the limb", + "Aplasia/Hypoplasia of the radius", + "vestibulo-auditory system", + "absent limb endochondral element", + "absent limb bone", + "forelimb bone phenotype", + "absent bone of free limb or fin in the limb", + "Absent forearm bone", + "decreased size of the organ", + "absent forelimb bone", + "absent bone element", + "Abnormal morphology of the radius", + "Reticulocytopenia", + "absent forelimb bone in the limb", + "absent endochondral element in the forelimb", + "number of anatomical enitites of type bone element phenotype", + "forelimb long bone phenotype", + "nervous system process phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "increased biological_process", + "absent bone of free limb or fin", + "radius bone phenotype", + "absent bone of free limb or fin in the forelimb", + "regulation of biosynthetic process phenotype", + "zeugopod", + "decreased length of anatomical entity", + "bone of pectoral complex", + "nervous system physiology phenotype", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "pathological phenotype observation", "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "paired limb/fin skeleton", - "arm", - "endochondral bone", + "decreased functionality of the gonad", + "decreased sensory perception of sound", + "anatomical system physiology phenotype", + "subdivision of head", + "absent mesoderm-derived structure in the forelimb", + "appendage girdle complex", + "digit phenotype", + "Renal hypoplasia/aplasia", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Hypermelanotic macule", + "absent kidney in the renal system", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "kinesthetic behavior", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "Duplication of hand bones", + "nervous system process", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "decreased size of the anatomical structure", + "organ", + "occurrent", "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "Abnormal finger phalanx morphology", - "pigmentation", - "bone of appendage girdle complex", - "abnormal limb morphology", - "system", - "aplasia or hypoplasia of manual digit 1", + "endochondral bone", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", "entity", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal autopod region morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "forelimb zeugopod bone morphology phenotype", + "behavior process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "acropodial skeleton", + "autopod region morphology phenotype", + "appendage", + "anatomical entity phenotype", + "decreased multicellular organismal process", + "root", + "localised testis", "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "limb", + "bone of free limb or fin", + "cavitated compound organ phenotype", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "cardiovascular system", + "absent skeletal element", + "manual digit morphology in the manus phenotype", + "localised cavitated compound organ", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "number of anatomical enitites of type endochondral bone phenotype", + "upper limb segment phenotype", + "endochondral element phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "protein-containing material entity", + "segment of manus", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "multi-limb segment region", + "manual digit plus metapodial segment", + "digit 1 plus metapodial segment", + "anatomical entity length phenotype", + "digit", + "digit 1 or 5 phenotype", + "Abnormal digit morphology", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", "Neoplasm by anatomical site", "Decreased anatomical entity mass", "Abnormality of the upper limb", + "limb", "cell", "absent anatomical entity in the renal system", - "skeleton", - "male gamete generation", - "absent anatomical entity", - "Abnormal digit morphology", - "appendicular skeletal system", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", - "agenesis of anatomical entity", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "absent skeletal element in the forelimb", + "absent bone of appendage girdle complex in the forelimb", + "pectoral appendage", + "absent organism subdivision", + "Neurodevelopmental abnormality", + "manus phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "axial skeleton plus cranial skeleton", + "Abnormal hand morphology", + "Metazoa", + "absent mesoderm-derived structure", + "Aplasia/hypoplasia involving bones of the extremities", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "digitopodium region", + "skeleton of manus", + "skeleton of limb", + "Aplasia involving forearm bones", + "autopodial extension phenotype", + "regulation of macromolecule metabolic process phenotype", "anatomical collection", + "G2 phase", + "nervous system phenotype", "All", - "increased qualitatively biological_process", "Aplasia involving bones of the extremities", - "abnormal digit morphology", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "paired limb/fin segment phenotype", + "absent anatomical structure in the forelimb", + "acropodium region", + "Intellectual disability", + "bone marrow", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "erythrocyte morphology phenotype", + "paired limb/fin segment", + "Opisthokonta", + "Duplication of bones involving the upper extremities", + "localised abdominal segment element", + "genitourinary system", + "decreased size of the digit", + "paired limb/fin", + "skeleton phenotype", + "absent forelimb endochondral element", + "limb phenotype", + "paired limb/fin skeleton", + "arm phenotype", + "hematopoietic system", + "agenesis of anatomical entity", + "nucleobase-containing compound metabolic process", + "manus morphology phenotype", + "increased pigmentation", + "material anatomical entity phenotype", + "absent kidney", + "digit 1 phenotype", + "bone of appendage girdle complex", + "arm", + "multicellular anatomical structure mass phenotype", + "male reproductive organ phenotype", + "manual digit", + "limb bone morphology phenotype", + "Abnormal skeletal morphology", + "anatomical system", + "absent anatomical structure in the limb", + "Abnormality of thumb phalanx", + "decreased number of leukocyte", + "decreased size of the sense organ", + "anatomical collection phenotype", + "quality", + "decreased number of platelet", + "Aplasia/hypoplasia of the extremities", + "decreased number of anatomical entity", + "Abnormal cellular phenotype", + "abdominal segment element", + "decreased number of neutrophil", + "renal collecting system phenotype", + "musculature", + "regional part of brain", "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of manus", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", "thoracic segment of trunk", - "skeletal system", - "motile cell", - "aplastic anatomical entity", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "abnormally decreased number of myeloid cell", + "number of anatomical enitites of type material anatomical entity phenotype", + "skeletal element", + "taxon specific phenotype", + "granulocyte morphology phenotype", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "cell phenotype", + "obsolete cell", + "programmed DNA elimination", + "anatomical entity morphology phenotype", + "Abnormal localization of kidney", + "size of skull phenotype", + "digit 1", "face", "aplasia or hypoplasia of manual digit", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "regulation of metabolic process", - "Decreased body weight", - "manual digit 1", - "autopodial extension", - "digit plus metapodial segment", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", - "excretory system", - "bone marrow cell", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", "circulatory system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "abnormal myeloid cell morphology", - "increased biological_process", - "sexual reproduction", - "Macule", + "bone marrow cell", + "Pancytopenia", + "subdivision of organism along appendicular axis phenotype", + "eye phenotype", + "Abnormal cellular immune system morphology", + "absent multicellular anatomical structure in the limb", + "endocrine system phenotype", + "multicellular organism morphology phenotype", + "skeletal system", + "cavitated compound organ", + "Abnormal leukocyte count", + "number of anatomical enitites of type neutrophil phenotype", + "Abnormal myeloid cell morphology", + "U-shaped kidney", + "digit 1 or 5", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "subdivision of skeletal system phenotype", + "Abnormal reticulocyte morphology", + "number of hematopoietic cell phenotype", + "postcranial axial skeleton", + "absent radius endochondral element", + "skeleton", + "Abnormal bleeding", + "immune system phenotype", + "decreased functionality of the organ", + "aplasia or hypoplasia of manual digit 1", + "reproductive system physiology phenotype", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "ear phenotype", + "anatomical entity", + "absent autopodial extension", + "hematopoietic system phenotype", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Abnormal immune system morphology", + "number of platelet phenotype", + "external genitalia", + "skeleton of pectoral complex", + "eukaryotic cell", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "arm bone", + "Abnormal myeloid leukocyte morphology", + "absent forelimb zeugopod bone in the forelimb", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "structure with developmental contribution from neural crest phenotype", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "immune system", "organ system subdivision", - "abnormal blood cell", "erythrocyte", - "quality", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "DNA damage response", - "lateral structure", - "abnormal vasculature", - "abnormal genitourinary system", - "changed developmental process rate", - "Abnormal cerebral morphology", - "abnormal blood circulation", - "arm bone", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "abnormal hematopoietic system", - "Renal agenesis", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "nucleate cell", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "renal system", - "absent digit", - "phenotype", + "decreased number of cell", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "Abnormality of skin pigmentation", + "phenotypic effect", + "size of anatomical entity phenotype", + "absent anatomical entity in the multicellular organism", + "organ physiology phenotype", "Abnormal cell morphology", - "skeletal element", - "zeugopod", - "Abnormal cellular immune system morphology", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal kidney morphology", + "phenotype", + "limb endochondral element", + "digit plus metapodial segment", + "skeletal system phenotype", + "absent anatomical entity", + "Bruising susceptibility", + "absent compound organ in the renal system", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "bone of appendage girdle complex phenotype", + "number of anatomical enitites of type lateral structure phenotype", + "shape kidney", + "ectoderm-derived structure physiology phenotype", + "negative regulation of metabolic process", + "nervous system morphology phenotype", + "manual digit 1 or 5", + "myeloid leukocyte", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "manual digitopodium bone", + "localised lateral structure", + "vision/eye phenotype", + "absent multicellular anatomical structure in the skeletal system", + "organism subdivision", + "cell cycle phenotype", + "regional part of brain phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "neutrophil phenotype", + "external male genitalia", + "aplasia or hypoplasia of skeleton", + "cellular response to stress phenotype", + "craniocervical region morphology phenotype", + "localised multicellular anatomical structure", "main body axis", - "decreased spermatogenesis", - "regional part of nervous system", - "abdominal segment element", - "abnormal reproductive system morphology", - "Abnormal conjugate eye movement", - "forelimb bone", + "decreased functionality of the reproductive organ", "non-connected functional system", - "Abnormality of the upper urinary tract", - "abnormal renal system", + "absent bone of appendage girdle complex in the limb", + "number of cell phenotype", + "number of leukocyte phenotype", + "platelet", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "Abnormal limb bone morphology", + "absent digit", + "musculoskeletal system", + "absent material anatomical entity in the forelimb", + "manual digit phenotype", + "anatomical system phenotype", + "musculature phenotype", + "number of myeloid cell phenotype", + "DNA metabolic process phenotype", + "multi-limb segment region phenotype", "hemolymphoid system", - "biological_process", - "myeloid leukocyte", - "entire sense organ system", - "absent radius bone in the independent continuant", - "Abnormal localization of kidney", - "biological regulation", - "Global developmental delay", - "abdominal segment of trunk", - "renal collecting system", - "Ectopic kidney", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal immune system", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "trunk region element", + "decreased number of material anatomical entity", + "absent mesoderm-derived structure in the limb", + "autopod region phenotype", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "anatomical structure mass phenotype", + "multicellular organism", + "decreased functionality of the anatomical structure", + "Thrombocytopenia", + "leukocyte", + "increased biological_process in skin of body", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "number of anatomical enitites of type compound organ phenotype", + "cellular response to stimulus phenotype", + "absent bone element in the forelimb", + "Abnormal appendicular skeleton morphology", + "anatomical structure physiology phenotype", + "bone element", + "mesoderm-derived structure phenotype", + "decreased number of hematopoietic cell", + "absent anatomical entity in the forelimb", + "multicellular anatomical structure", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "Abnormality of globe size", + "bone element phenotype", "cell cycle", "pectoral complex", + "decreased size of the manual digit", + "trunk region element", + "absent limb long bone in the forelimb", "Anemic pallor", - "abnormal renal system morphology", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "absent kidney in the renal system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "reproduction", - "absent anatomical entity in the multicellular organism", - "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", - "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Aplasia/hypoplasia involving the skeleton", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "subdivision of trunk", - "absent manual digit", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "body proper", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "continuant", - "abnormality of ear physiology", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", "cellular metabolic process", + "superficial fascia", "Abnormality of neutrophils", - "leukocyte", - "abnormal gamete generation", - "protein-containing material entity", - "gamete generation", - "abnormally decreased number of cell in the independent continuant", - "abnormal neutrophil", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "phalanx of manus", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", - "abnormal nervous system", - "paired limb/fin segment", - "abnormality of camera-type eye physiology", - "immune system", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "Absent forearm bone", - "Leukemia", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "blood cell", - "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", - "Abnormal myeloid cell morphology", - "U-shaped kidney", - "digit 1 or 5", - "skeleton of manual digitopodium", - "primary circulatory organ", - "granulocyte", - "Complete duplication of phalanx of hand", - "limb bone", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "viscus", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "aplastic manual digit 1", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "digit 1 digitopodial skeleton", + "decreased number of myeloid cell", + "decreased size of the autopodial extension", + "absent bone of pectoral complex in the limb", + "process", + "anatomical entity morphology in the pectoral complex phenotype", + "number of anatomical enitites of type kidney phenotype", + "Abnormal granulocyte morphology", + "glandular system", + "Abnormal male external genitalia morphology", + "subdivision of head phenotype", + "blood cell phenotype", + "decreased number of granulocyte", + "multicellular anatomical structure phenotype", + "regulation of metabolic process", + "Decreased body weight", + "decreased size of the ectoderm-derived structure", + "manual digit 1", + "autopodial extension", + "absent trunk region element in the renal system", + "continuant", + "paired limb/fin phenotype", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "musculature of body", + "camera-type eye phenotype", + "manus", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "integument phenotype", "Abnormal eye physiology", "segment of autopod", + "response to stimulus phenotype", "reproductive system", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal granulocyte morphology", - "abnormally decreased number of granulocyte", - "manual digit 1 plus metapodial segment", - "abdomen", - "neutrophil", - "Complete duplication of thumb phalanx", - "manual digit 1 phalanx", - "abnormal forelimb zeugopod bone", - "Abnormal myeloid leukocyte morphology", - "Pancytopenia", - "abnormal head", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", - "organism", - "programmed DNA elimination", - "obsolete cell", - "internal male genitalia", - "Abnormal granulocyte count", + "anatomical entity morphology in the manus phenotype", + "sensory perception of mechanical stimulus phenotype", + "anatomical line between pupils", + "independent continuant", + "aplastic manual digit 1", + "number of anatomical enitites of type organism subdivision phenotype", + "anatomical structure", + "localised trunk region element", + "absent lateral structure", + "Anemia", + "manus bone", + "Abnormality of the hand", + "radius bone", + "Subcutaneous hemorrhage", + "absent organism subdivision in the multicellular organism", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "limb segment", + "cellular organisms", + "Abnormal neutrophil count", + "forelimb morphology phenotype", + "absent manual digit", + "Abnormal thumb morphology", + "subdivision of trunk", + "subdivision of organism along appendicular axis", + "absent anatomical structure in the multicellular organism", + "telencephalon phenotype", + "male reproductive system phenotype", + "autopodial skeleton", + "DNA damage response", + "lateral structure", + "cellular process phenotype", + "multicellular organism phenotype", + "external genitalia phenotype", + "system process", + "Abnormality of mental function", + "external male genitalia phenotype", + "absent organ in the multicellular organism", + "multicellular organismal process", + "Hypergonadotropic hypogonadism", + "material anatomical entity physiology phenotype", + "number of anatomical enitites of type granulocyte phenotype", + "reproductive structure physiology phenotype", + "behavior phenotype", + "forelimb zeugopod bone", + "nervous system", + "renal system", + "endochondral bone phenotype", + "cognition", + "absent abdominal segment element", + "localised anatomical structure", + "simple eye phenotype", + "abdomen element", + "absent anatomical structure", + "localised kidney", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "absent cavitated compound organ", + "Abnormal renal morphology", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "renal system phenotype", + "nucleic acid metabolic process", + "absent endochondral bone in the limb", + "renal collecting system", + "immune system morphology phenotype", + "Ectopic kidney", + "Hearing abnormality", + "absent anatomical structure in the renal system", + "primary circulatory organ", + "skeleton of manual digitopodium", + "absent endochondral bone", + "localised organ", + "body proper", + "DNA repair phenotype", + "skeleton of digitopodium", + "Short digit", + "absent multicellular anatomical structure in the renal system", "eye", "compound organ", "zeugopodial skeleton", "limb long bone", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal hematopoietic cell morphology", - "biological phase", - "autopod bone", - "mesoderm-derived structure", - "abnormal manus", - "craniocervical region", - "abnormal forebrain morphology", + "Finger aplasia", + "abdominal segment element phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "absent radius endochondral element in the forelimb", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "Irregular hyperpigmentation", + "male organism", + "negative regulation of gene expression phenotype", + "localised compound organ", + "Abnormal granulocyte count", + "skin of body phenotype", + "Abnormality of the kidney", + "trunk", + "absent trunk region element in the multicellular organism", + "blood cell", + "Abnormality of the genitourinary system", + "excretory system", + "subdivision of organism along main body axis", + "Abnormal conjugate eye movement", + "renal/urinary system phenotype", + "forelimb bone", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "upper urinary tract phenotype", + "integument", + "platelet phenotype", + "biological_process", + "genitourinary system phenotype", + "decreased length of digit", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "upper urinary tract", + "Growth delay", + "kidney", + "regional part of nervous system", + "telencephalon morphology phenotype", + "skull phenotype", + "forelimb", + "Abnormal forebrain morphology", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "limb long bone phenotype", "multi-tissue structure", - "abnormal craniocervical region morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", + "regulation of macromolecule biosynthetic process phenotype", "Decreased head circumference", - "telencephalon", + "Abnormality of the nervous system", + "central nervous system morphology phenotype", + "cardiovascular system morphology phenotype", "Growth abnormality", "axial skeletal system", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "abnormal head morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", + "absent arm bone", + "reproductive organ", + "primary metabolic process phenotype", + "forebrain morphology phenotype", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", "decreased size of the multicellular organism", + "Abnormal bone marrow cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", "Abnormality of skull size", - "spermatogenesis", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "negative regulation of cellular metabolic process", - "Eukaryota", - "kinesthetic behavior", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "manual digit 1 phalanx endochondral element", - "tissue", - "absent anatomical entity in the semen", + "craniocervical region", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "subdivision of organism along main body axis phenotype", + "regulation of gene expression phenotype", + "system", + "brain morphology phenotype", + "forelimb skeleton", + "endocrine system", + "head morphology phenotype", + "Hematological neoplasm", + "regional part of nervous system phenotype", + "decreased length of manual digit 1 or 5", + "decreased functionality of the multicellular anatomical structure", + "ectoderm-derived structure phenotype", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "absent limb bone in the forelimb", + "erythroid lineage cell", + "telencephalon", + "head phenotype", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "decreased sensory perception of mechanical stimulus", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "cranial skeletal system", + "craniocervical region phenotype", + "brain", + "Abnormality of head or neck", + "Abnormal skull morphology", + "Abnormal brain morphology", + "absent material anatomical entity in the skeletal system", "limb skeleton subdivision", + "location of anatomical entity phenotype", "skull", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "absent sperm in the semen", - "bone of pectoral complex", - "decreased length of anatomical entity", "autopod endochondral element", + "homeostatic process phenotype", "Abnormality of limb bone", "central nervous system", - "regional part of brain", - "forelimb", - "Abnormal forebrain morphology", - "multicellular organismal reproductive process", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Abnormal renal morphology", - "abnormal external genitalia", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "reproductive organ", - "abnormal skull morphology", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "heart plus pericardium", + "Abnormality of the genital system", + "reproductive organ physiology phenotype", + "decreased functionality of the material anatomical entity", + "Puberty and gonadal disorders", + "myeloid leukocyte phenotype", + "forebrain", + "gonad physiology phenotype", + "nucleate cell", + "reproductive structure phenotype", + "multicellular anatomical structure physiology phenotype", + "limb endochondral element phenotype", + "number of anatomical enitites of type abdomen element phenotype", + "absent arm bone in the forelimb", + "viscus", + "anatomical entity mass phenotype", + "reproductive organ phenotype", + "sense organ phenotype", + "Abnormality of reproductive system physiology", + "absent lateral structure in the renal system", + "behavior process phenotype", + "reproductive system phenotype", + "skull morphology phenotype", + "localised reproductive structure", + "gonad phenotype", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "Neutropenia", + "reproductive structure", + "vasculature phenotype", + "growth phenotype", + "Abnormality of the endocrine system", + "number of anatomical enitites of type skeletal element phenotype", + "number of anatomical enitites of type abdominal segment element phenotype", + "neutrophil", + "absent abdomen element", + "decreased number of anatomical structure", + "absent cavitated compound organ in the renal system", + "number of anatomical enitites of type organ phenotype", + "Duplication of phalanx of hand", + "number of anatomical enitites of type cavitated compound organ phenotype", + "absent organ", + "manual digit phalanx endochondral element", + "number of anatomical enitites of type trunk region element phenotype", + "decreased functionality of the reproductive structure", "Cryptorchidism", - "thoracic segment organ", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "circulatory organ", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Abnormality of cardiovascular system morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "absent trunk region element", + "Renal agenesis", + "motile cell", + "absent abdominal segment element in the renal system", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "absent organ in the renal system", + "digit morphology phenotype", + "absent abdomen element in the renal system", + "absent material anatomical entity in the renal system", + "Abnormal platelet count", + "absent compound organ", + "oxygen accumulating cell", "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", + "erythroid lineage cell morphology phenotype", + "sensory perception of mechanical stimulus", + "Abnormal upper limb bone morphology", + "skin of body", "integumental system", - "integument", - "absent radius bone in the forelimb", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Growth delay", - "kidney", - "abnormal biological_process", - "Abnormality of skin morphology", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Neutropenia", - "reproductive structure", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "germ line cell", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal integument", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "limb segment", - "absent sperm", - "abnormal endocrine system", - "abnormally decreased number of reticulocyte", - "Abnormality of the endocrine system", - "Abnormality of reproductive system physiology", - "gamete", - "male gamete", - "abnormally decreased functionality of the gonad", - "Abnormality of the genital system", - "glandular system", - "absent kidney", - "subdivision of skeletal system", - "abnormally decreased number of neutrophil", - "absent kidney in the independent continuant", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "manus bone", - "radius bone", - "Abnormality of the hand", - "Anemia", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", + "material anatomical entity", + "skin of body morphology phenotype", + "Abnormal skin morphology", + "shape of continuant phenotype", + "anucleate cell", + "Abnormality of thrombocytes", + "limb bone phenotype", + "secretory cell", "Abnormality of the skeletal system", "biogenic amine secreting cell", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal cellular process", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", - "anucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "cellular organisms", - "Abnormal neutrophil count", - "obsolete multicellular organism reproduction", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "digit 1", - "abnormal platelet morphology", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "developmental process involved in reproduction", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "abnormal testis morphology", - "forelimb zeugopod", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "germ cell", - "absent gamete", - "sperm", - "abnormal gamete", - "Reticulocytopenia", - "organism substance", - "haploid cell", - "disconnected anatomical group", - "abnormal cell", - "male reproductive organ", - "internal genitalia", - "abnormal internal genitalia", - "platelet", - "absent sperm in the independent continuant", + "absent bone of appendage girdle complex", + "organ phenotype", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "testis", + "localised reproductive organ", + "gonad", + "localised gonad", "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "Abnormal external genitalia", - "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "interphase", - "semen", + "cardiovascular system phenotype", + "localised abdomen element", "Abnormal testis morphology", - "male germ cell", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "male organism", - "abnormal granulocyte morphology", - "Azoospermia", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "testis", - "external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "Aplasia involving bones of the upper limbs", - "eukaryotic cell", - "abnormal limb long bone morphology", - "absent forelimb zeugopod bone", - "forelimb zeugopod skeleton", - "abnormal size of skull", + "disconnected anatomical group", + "male reproductive organ", + "testis phenotype", + "response to stress phenotype", + "Small for gestational age", + "Abnormal forearm morphology", + "absent forelimb bone in the forelimb", + "absent limb bone in the limb", + "aplastic forelimb zeugopod bone", "forelimb long bone", - "3-D shape anatomical entity in independent continuant", + "serotonin secreting cell", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", + "radius endochondral element", "Abnormal cellular physiology", "absent anatomical entity in the skeletal system", + "Aplasia involving bones of the upper limbs", + "Abnormal cerebral morphology", + "limb segment phenotype", + "absent endochondral element in the limb", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "forelimb zeugopod", + "absent limb long bone", + "absent limb endochondral element in the forelimb", + "regulation of biological process phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "number of anatomical enitites of type endochondral element phenotype", + "absent skeletal element in the limb", "Pallor", - "abnormal bone of pectoral complex morphology", "absent radius bone", - "Absent radius", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal behavior", - "radius endochondral element", - "sensory perception of mechanical stimulus", - "abnormally decreased number of anatomical entity", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormal radius bone morphology", - "aplastic forelimb zeugopod bone", - "Short finger", - "Abnormal reticulocyte morphology", - "decreased length of anatomical entity in independent continuant", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "decreased length of digit", - "skeleton of digitopodium", - "Short digit", - "reticulocyte", + "absent anatomical structure in the skeletal system", ], "has_phenotype_count": 32, "highlight": None, @@ -5257,10 +6475,12 @@ def autocomplete(): "xref": [ "DOID:1062", "GARD:9120", + "MEDGEN:4653", "MESH:D005198", "NANDO:2100027", "NANDO:2200187", "NCIT:C3034", + "SCTID:236466005", "SCTID:40488004", "UMLS:C0015624", ], @@ -5285,10 +6505,10 @@ def autocomplete(): "uri": None, "iri": None, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": 0, "highlight": None, "score": None, @@ -5304,6 +6524,7 @@ def autocomplete(): "DOID:13636", "GARD:6425", "ICD9:284.09", + "MEDGEN:41967", "MESH:D005199", "MedDRA:10055206", "NANDO:1200303", @@ -5334,43 +6555,34 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0010469", - "HP:0000377", + "HP:0000047", "HP:0002575", "HP:0000483", "HP:0000238", "HP:0001249", + "HP:0001000", "HP:0100587", "HP:0100026", "HP:0040071", - "HP:0012639", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0002245", - "HP:0002023", - "HP:0001824", - "HP:0001646", "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000453", - "HP:0000047", - "HP:0007874", - "HP:0002650", "HP:0000252", - "HP:0001882", - "HP:0001510", - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0002863", "HP:0100867", "HP:0100760", "HP:0100542", + "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", @@ -5384,17 +6596,23 @@ def autocomplete(): "HP:0002827", "HP:0002823", "HP:0002251", + "HP:0002245", + "HP:0002023", "HP:0002007", + "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", + "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", + "HP:0001510", "HP:0001347", "HP:0001199", "HP:0000813", @@ -5406,6 +6624,7 @@ def autocomplete(): "HP:0000492", "HP:0000486", "HP:0000478", + "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -5424,7 +6643,9 @@ def autocomplete(): "HP:0000010", "HP:0012745", "HP:0012210", + "HP:0007874", "HP:0002664", + "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -5435,50 +6656,41 @@ def autocomplete(): "HP:0003220", "HP:0002817", "HP:0001903", + "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", "HP:0001053", - "HP:0001000", ], "has_phenotype_label": [ - "Absent testis", - "Abnormal pinna morphology", + "Hypospadias", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", "Intellectual disability", + "Abnormality of skin pigmentation", "Abnormal preputium morphology", "Arteriovenous malformation", "Abnormal morphology of ulna", - "Abnormal nervous system morphology", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Meckel diverticulum", - "Anal atresia", - "Weight loss", - "Abnormal aortic valve morphology", "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", "Microcephaly", - "Leukopenia", - "Growth delay", - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", - "Oligohydramnios", + "Myelodysplasia", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", + "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", @@ -5490,19 +6702,25 @@ def autocomplete(): "Clinodactyly of the 5th finger", "Hypoplasia of the ulna", "Hip dislocation", - "Abnormality of femur morphology", + "Abnormal femur morphology", "Aganglionic megacolon", + "Meckel diverticulum", + "Anal atresia", "Frontal bossing", + "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", + "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", + "Growth delay", "Hyperreflexia", "Triphalangeal thumb", "Bicornuate uterus", @@ -5514,6 +6732,7 @@ def autocomplete(): "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", + "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -5532,7 +6751,9 @@ def autocomplete(): "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", + "Almond-shaped palpebral fissure", "Neoplasm", + "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -5543,1035 +6764,1228 @@ def autocomplete(): "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", + "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", "Hypopigmented skin patches", - "Abnormality of skin pigmentation", ], "has_phenotype_closure": [ "HP:0001010", - "UPHENO:0084987", - "UPHENO:0085070", "HP:0001873", - "UPHENO:0086173", - "CL:0000458", - "UPHENO:0085189", - "UPHENO:0086049", - "CL:0000233", + "UPHENO:0080010", "CL:0000457", + "UPHENO:0077373", + "CL:0000233", + "CL:0000458", "UPHENO:0085344", "HP:0011875", - "HP:0001939", + "UPHENO:0086173", + "HP:0011893", + "CL:0000738", + "UPHENO:0088166", + "UPHENO:0035160", + "UPHENO:0088319", + "UPHENO:0076675", + "UBERON:0000179", + "CL:0000255", + "CL:0000219", + "UBERON:0000178", + "UPHENO:0077348", + "UPHENO:0085410", + "UPHENO:0049904", "GO:0008152", "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0048871", - "UPHENO:0088162", - "UPHENO:0088170", - "CL:0000329", "HP:0010972", - "HP:0020047", - "CL:0000764", - "HP:0005522", - "HP:0001877", - "HP:0025461", - "UPHENO:0084928", - "GO:0030218", + "GO:0030099", + "GO:0030097", + "CL:0000988", + "GO:0048872", + "GO:0042592", "GO:0002376", "GO:0009987", - "GO:0042592", - "GO:0048869", + "HP:0001877", "CL:0000232", - "GO:0048872", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", - "HP:0002818", - "UBERON:0015001", - "UPHENO:0080187", - "HP:0012745", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "UPHENO:0088170", + "CL:0000764", + "CL:0001035", + "GO:0030218", + "UPHENO:0088162", + "HP:0025461", + "UBERON:0015001", + "UPHENO:0080187", + "HP:0002650", + "HP:0200005", + "UPHENO:0041462", + "UPHENO:0069119", + "UPHENO:0046755", "UPHENO:0075198", + "UPHENO:0069562", "HP:0000010", "UPHENO:0002263", + "UPHENO:0002948", + "UPHENO:0053561", + "CL:0000329", + "UPHENO:0053632", + "UPHENO:0002940", + "UPHENO:0053647", "UPHENO:0053644", + "UPHENO:0053572", "HP:0000028", + "UPHENO:0053559", + "UBERON:0000056", + "UPHENO:0002636", "UBERON:0036295", + "HP:0000072", "UBERON:0006555", - "UPHENO:0002806", + "UPHENO:0003101", "HP:0025633", - "UBERON:0000056", - "UPHENO:0086132", + "UPHENO:0002859", + "UPHENO:0002426", + "UPHENO:0002377", + "UPHENO:0002427", "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", - "HP:0000083", + "UPHENO:0002422", "HP:0000135", + "UPHENO:0003056", + "UPHENO:0002381", + "UPHENO:0066972", + "UPHENO:0066945", + "UPHENO:0033589", + "UPHENO:0002806", + "UPHENO:0033612", "HP:5201015", - "UPHENO:0034110", - "UPHENO:0063513", + "UPHENO:0077399", + "UPHENO:0001392", + "HP:0000218", + "UPHENO:0063518", + "UPHENO:0063524", "UPHENO:0081423", + "UPHENO:0063529", + "UPHENO:0063519", "HP:0000268", - "UPHENO:0001208", "UPHENO:0072402", - "UBERON:0001084", + "UPHENO:0072332", "UPHENO:0087058", - "UBERON:0013766", - "UPHENO:0087928", "UBERON:1000021", + "UPHENO:0087928", + "UPHENO:0072266", + "UBERON:0013766", + "UPHENO:0072293", + "UBERON:0001084", "UPHENO:0084734", "HP:0001999", "HP:0000324", - "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0076704", + "UPHENO:0041151", "UPHENO:0041083", - "UPHENO:0081786", - "UBERON:0004768", - "HP:0004322", - "HP:0030791", - "HP:0000277", - 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"UPHENO:0086589", - "GO:0014020", - "UBERON:0004456", - "UPHENO:0052178", - "UPHENO:0082467", - "UBERON:0001463", - "UPHENO:0086023", - "UPHENO:0041226", - "UBERON:0034925", - "HP:0000598", - "UPHENO:0080103", - "GO:0043009", - "HP:0000119", - "UPHENO:0076799", - "UPHENO:0033626", - "UPHENO:0005016", - "UBERON:0007100", - "UPHENO:0075175", - "UPHENO:0080300", - "UPHENO:0088047", - "RO:0002577", - "HP:0000951", - "UPHENO:0002903", - "UBERON:0012140", - "UBERON:0000376", - "HP:0002575", - "UBERON:0004921", - "UPHENO:0002378", - "UPHENO:0076765", - "HP:0002086", - "UBERON:0003920", - "UBERON:0010371", - "UBERON:0001801", - "HP:0000478", - "UPHENO:0041079", - "UBERON:0019231", - "HP:0031703", - "UBERON:0003134", - "HP:0030962", - "UPHENO:0041053", - "HP:0011314", - "UBERON:0001819", - "UBERON:0003657", - "HP:0000364", - "GO:0009790", - "UPHENO:0081574", - "UPHENO:0086159", - "UPHENO:0076730", - "UBERON:0015212", - "UPHENO:0087478", - "GO:0035148", - "HP:0000453", - "HP:0002143", - "UPHENO:0076743", - "UBERON:0001456", - "UPHENO:0076785", - "CL:0000039", - "UBERON:0013765", - "HP:0000483", - "UPHENO:0087816", - "UBERON:0009569", - "UBERON:0002398", - "HP:0011793", - "HP:0012718", - "HP:0033127", - "GO:0050877", - "HP:0007400", - "UBERON:0007196", + "UPHENO:0041591", + "UBERON:0002082", + "UPHENO:0084815", + "UBERON:0003947", + "CL:0000019", + "HP:0003026", + "NBO:0000416", + "HP:0001871", + "UPHENO:0063594", + "UPHENO:0001003", + "UPHENO:0002790", + "UPHENO:0075852", + "HP:0000080", + "UBERON:0001008", + "UBERON:0005177", + "UBERON:0003606", + "UPHENO:0002668", + "UPHENO:0087334", + "HP:0003022", + "UPHENO:0002579", + "UBERON:0001434", + "UPHENO:0087232", + "UPHENO:0003031", + "UPHENO:0076707", + "UPHENO:0086116", + "UPHENO:0004724", + "UBERON:0000122", + "UPHENO:0076739", + "UPHENO:0074229", + "UPHENO:0003026", + "UPHENO:0002685", + "UPHENO:0002832", + "HP:0012848", + "UPHENO:0041098", + "GO:0032502", + "UPHENO:0002988", + "UBERON:0007779", + "UPHENO:0031123", + "UPHENO:0088185", + "UBERON:0004766", + "HP:0007700", + "UBERON:0015061", + "UPHENO:0076776", + "UPHENO:0002552", + "UPHENO:0072359", + "UPHENO:0002833", + "UPHENO:0077391", + "UPHENO:0002568", + "BFO:0000004", + "HP:0030680", + "HP:0005561", + "HP:0100736", + "UPHENO:0087577", + "UBERON:0004054", + "UPHENO:0084834", + "UPHENO:0072255", + "UPHENO:0002448", + "UPHENO:0002548", + "UPHENO:0002864", + "UBERON:0004710", + "UPHENO:0002782", + "HP:0001373", + "HP:0002031", + "HP:0005773", + "UBERON:0001299", "UBERON:0000025", "HP:0025033", "UBERON:5001463", "UPHENO:0078159", - "UBERON:0001558", - "GO:0048731", - "HP:0011603", - "CL:0000000", - "UBERON:0035553", - "HP:0000032", - "HP:0002664", - "HP:0031910", - "UBERON:0003103", - "UBERON:0001005", + "UPHENO:0056333", + "UBERON:0003133", + "UBERON:0005281", + "HP:0000036", + "UPHENO:0053566", + "HP:0034915", + "UPHENO:0003070", + "UBERON:0000915", + "UPHENO:0002433", + "UPHENO:0002945", + "UPHENO:0085874", + "UPHENO:0053571", + "UBERON:0000072", + "UPHENO:0002731", + "UBERON:0034925", + "HP:0000598", + "HP:0002250", + "UPHENO:0080103", + "UBERON:0001062", + "UBERON:0010358", + "HP:0000083", + "UPHENO:0046455", + "UBERON:0010314", + "HP:0100691", + "HP:0000153", + "HP:0100491", + "HP:0012243", + "HP:0005607", + "HP:0011842", + "HP:0000953", + "UPHENO:0018390", + "UPHENO:0068941", + "UPHENO:0002969", "UBERON:5106048", "UBERON:5001466", - "GO:0072175", - "HP:0002060", - "GO:0007283", - "UPHENO:0082449", - "UPHENO:0087802", + "UPHENO:0002269", + "UPHENO:0063722", + "UBERON:0001474", + "HP:0001872", + "UBERON:0002100", + "UPHENO:0011536", + "UPHENO:0033572", + "HP:0002246", + "UPHENO:0015324", + "UBERON:0004288", + "HP:0009815", + "PR:000050567", + "HP:0010461", + "UPHENO:0086621", + "UPHENO:0075175", + "UBERON:0003978", + "HP:0000174", + "UPHENO:0080300", + "UPHENO:0076718", + "UBERON:0005178", + "UPHENO:0005651", + "UPHENO:0063596", + "UPHENO:3000000", + "UBERON:0003134", + "HP:0030962", + "UPHENO:0041053", + "UBERON:0005893", + "UPHENO:0003088", + "HP:0000271", + "UBERON:0000057", + "UPHENO:0005636", + "UPHENO:0008523", + "UPHENO:0050101", + "UBERON:0015212", + "UBERON:0034923", + "UPHENO:0002430", + "HP:0006496", + "UBERON:0002090", + "UPHENO:0080185", + "UPHENO:0033580", + "UBERON:0011779", + "UBERON:0002080", + "UPHENO:0078452", + "HP:0002795", + "UPHENO:0002308", + "UPHENO:0002910", + "UPHENO:0033560", + "UPHENO:0041667", + "UPHENO:0002708", + "HP:0006824", + "UBERON:0011584", + "UPHENO:0071326", + "UBERON:0004923", + "UPHENO:0002585", + "UPHENO:0002928", + "HP:0011793", + "UPHENO:0000983", + "UBERON:0003920", + "UBERON:0010371", + "UBERON:0001801", + "UPHENO:0002550", + "UBERON:0003460", + "UPHENO:0002536", + "HP:0012733", + "HP:0004378", + "UPHENO:0001002", + "UBERON:0001137", + "UPHENO:0012308", + "UPHENO:0087924", + "HP:0009602", + "HP:0012638", + "UPHENO:0002211", + "UPHENO:0049966", + "UPHENO:0088088", + "UPHENO:0002713", + "GO:0043009", + "HP:0000119", + "UPHENO:0076799", + "UPHENO:0033626", + "UPHENO:0005016", + "UPHENO:0011845", + "UPHENO:0002643", + "UBERON:0019221", + "HP:0100587", + "UPHENO:0004757", + "UPHENO:0031254", + "UBERON:0000004", + "UBERON:0010740", + "UPHENO:0002642", + "HP:0000505", + "UPHENO:0033584", + "UBERON:0006058", + "UBERON:0015203", + "UPHENO:0087022", + "UBERON:0001768", + "HP:0011821", + "HP:0012547", + "UPHENO:0031228", + "UPHENO:0014291", + "UPHENO:0075208", + "HP:0000811", + "HP:0004328", + "UBERON:0002410", + "UPHENO:0031226", "UBERON:0010708", "GO:0050890", "UBERON:0000073", @@ -6579,4773 +7993,5555 @@ def autocomplete(): "UPHENO:0080202", "UBERON:0000995", "UBERON:0010428", + "HP:0008438", + "UPHENO:0076798", + "HP:0000315", + "UBERON:0010313", + "UBERON:0011215", + "HP:0006503", + "GO:0048856", + "UBERON:0006717", + "UPHENO:0031125", + "GO:0001838", + "UBERON:0000061", + "UPHENO:0076803", + "HP:0002863", + "UPHENO:0004764", + "UBERON:0008114", + "UBERON:0007828", + "HP:0011218", + "UPHENO:0002219", + "HP:0000539", + "UPHENO:0075804", + "UPHENO:0072194", + "UPHENO:0079876", + "UPHENO:0014865", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0071315", + "UPHENO:0002650", + "UPHENO:0076785", + "UBERON:0001456", + "HP:0012718", + "HP:0033127", + "UPHENO:0002386", + "UPHENO:0050234", + "UPHENO:0002554", + "UBERON:0011138", + "HP:0000079", + "UBERON:0002075", + "UBERON:0012150", "GO:0050882", "UBERON:0013522", - "UPHENO:0077872", "UBERON:0002104", "UBERON:0010409", - "UPHENO:0041462", "HP:0008055", - "GO:0009888", + "UPHENO:0056250", + "UPHENO:0087802", + "UBERON:0012430", + "HP:0001000", + "UPHENO:0002909", + "UPHENO:0002526", + "UPHENO:0078267", "UPHENO:0003055", "GO:0048598", "GO:0008150", "HP:0007565", "HP:0000925", "UPHENO:0075997", + "UPHENO:0085876", + "UBERON:0001785", + "UPHENO:0004788", + "GO:0072175", + "HP:0002060", "UPHENO:0087472", - "UPHENO:0021045", - "HP:0001000", - "UBERON:0012430", - "UPHENO:0035025", - "UPHENO:0080185", - "HP:0040004", - "UBERON:0003460", - "UPHENO:0002536", - "HP:0012733", - "UPHENO:0087924", - "UBERON:0001981", - "NCBITaxon:131567", - "UPHENO:0002910", - "UPHENO:0056072", - "HP:0001549", - "UBERON:0000160", - "UPHENO:0082761", - "CL:0000738", - "UBERON:0002116", + "UPHENO:0002553", + "UPHENO:0076765", + "HP:0002086", + "UPHENO:0056251", + "UPHENO:0075195", + "UBERON:0005899", + "HP:0012373", + "UBERON:0002091", + "GO:0035239", + "HP:0000813", + "HP:0100542", + "UPHENO:0003065", + "UBERON:0001017", + "UPHENO:0002385", "UBERON:0001444", "UBERON:0035651", - "UPHENO:0020809", - "UBERON:0002108", - "UBERON:0013768", - "UPHENO:0084771", - "UPHENO:0021038", - "UPHENO:0086612", - "UBERON:0001299", - "UPHENO:0002808", - "UPHENO:0087427", - "HP:0002244", - "UPHENO:0088337", - "UPHENO:0076728", - "HP:0011004", - "HP:0002245", - "HP:0040195", - "UBERON:0013702", - "HP:0002023", - "UPHENO:0087509", - "UBERON:0002355", - "HP:0006265", - "UBERON:0001245", - "UPHENO:0076760", - "UPHENO:0084448", - "HP:0008050", - "UPHENO:0086644", - "UPHENO:0076804", - "UPHENO:0046505", - "UPHENO:0074228", - "UPHENO:0021304", - "HP:0010293", - "UPHENO:0077889", - "UBERON:0000161", - "UPHENO:0086824", - "UPHENO:0054261", - "UPHENO:0054299", - "HP:0001507", - "UBERON:0010543", - "UPHENO:0049874", - "UPHENO:0033559", - "UPHENO:0082794", - "UPHENO:0041203", - "HP:0004325", - "HP:0040194", - "UPHENO:0031839", - "UBERON:0016526", - "UBERON:0001805", - "UPHENO:0010795", - "UPHENO:0002839", - "UPHENO:0086614", - "UBERON:0000915", - "HP:0034915", - "UPHENO:0003070", - "UPHENO:0050008", - "UBERON:0002090", - "HP:0006496", - "UBERON:0005623", - "HP:0000174", - "UBERON:0003978", - "UBERON:0000323", - "HP:0001159", - "UPHENO:0082900", - "UBERON:0000948", - "UBERON:0002084", - "UPHENO:0087612", - "UBERON:0005956", - "HP:0009815", - "UBERON:0004288", - "UPHENO:0015324", - "HP:0001770", - "UPHENO:0086143", - "HP:0000069", - "UPHENO:0087070", - "UBERON:0002097", - "UPHENO:0015319", - "UBERON:0000946", - "CL:0000988", - "UBERON:0001555", - "UPHENO:0015317", - "UBERON:0005725", - "UPHENO:0086858", - "UPHENO:0081436", - "UBERON:0002529", - "UBERON:0004381", - "UPHENO:0076810", - "UPHENO:0015327", - "UBERON:0019221", - "UBERON:0002389", - "HP:0001654", - "HP:0030669", - "UBERON:0000117", - "UBERON:0034921", + "UPHENO:0002531", + "UPHENO:0011557", + "UPHENO:0056242", + "UBERON:0004249", + "GO:0035295", + "HP:0000364", + "GO:0009790", + "GO:0048729", + "UPHENO:0035151", + "GO:0009888", + "UPHENO:0002765", + "UBERON:0001558", + "GO:0048731", + "UBERON:0016491", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0010741", + "UPHENO:0071308", + "UPHENO:0002523", + "UPHENO:0041037", + "HP:0009121", + "UBERON:0011164", + "UPHENO:0075655", + "GO:0001841", + "UPHENO:0001355", + "UBERON:0002349", + "UPHENO:0080662", + "GO:0014020", + "HP:0001249", + "UBERON:0000479", + "UPHENO:0041395", + "UBERON:0007811", + "UBERON:0000922", + "HP:0031826", + "UPHENO:0081603", + "UBERON:5006052", + "UBERON:0000014", + "UPHENO:0076761", "HP:0032039", - "UBERON:0010912", - "UPHENO:0086144", + "UPHENO:0086644", + "HP:0008050", + "UPHENO:0075878", + "UPHENO:0003085", + "UPHENO:0033579", "HP:0000492", "UPHENO:0080382", "HP:0200006", - "UBERON:0001474", - "UPHENO:0063722", - "UPHENO:0021791", - "UBERON:0000179", - "UPHENO:0003085", - "GO:0030154", - "UBERON:0004573", - "UBERON:0015052", - "UBERON:0000014", - "UPHENO:0086680", - "UPHENO:0076761", - "UBERON:0000965", + "UBERON:0001819", + "UBERON:0005726", + "UBERON:0010913", + "UPHENO:0086699", + "UBERON:0003657", + "HP:0030669", + "UPHENO:0087578", + "HP:0000518", + "HP:0001924", + "UPHENO:0018424", "UBERON:0005389", + "UPHENO:0004765", + "UPHENO:0077404", + "HP:0200007", + "HP:0009821", + "UPHENO:0004881", "UBERON:0000477", "HP:0000517", - "UPHENO:0086633", "UBERON:0004119", + "UPHENO:0086633", "OBI:0100026", "UPHENO:0001072", "UPHENO:0088132", - "HP:0000518", - "HP:0001924", - "UPHENO:0018424", - "UPHENO:0087578", + "UBERON:0000965", "HP:0000508", "GO:0048468", "UPHENO:0087214", + "UPHENO:0063558", "GO:0060562", "UPHENO:0041644", - "UPHENO:0041667", - "UPHENO:0021517", - "UBERON:0010913", - "UPHENO:0086699", - "UBERON:0005726", - "UPHENO:0086628", - "UPHENO:0063621", - "HP:0010978", - "UPHENO:0086100", - "UBERON:0010323", - "UPHENO:0087814", - "UBERON:0007832", - "UPHENO:0085330", - "UBERON:0003129", - "UPHENO:0002642", - "UBERON:0010740", - "UBERON:0000004", - "UPHENO:0003048", - "UBERON:0002268", - "HP:0000415", - "HP:0100547", - "HP:0000144", - "UPHENO:0063595", - "HP:0005105", - "HP:0000929", - "HP:0011994", - "UPHENO:0002907", - "UPHENO:0084447", - "HP:0100790", - "HP:0010935", - "HP:0000080", - "UPHENO:0075852", - "UBERON:0001008", - "UBERON:5101466", - "HP:0032076", - "UBERON:0012241", - "UPHENO:0002790", - "HP:0000079", - "UBERON:8450002", - "HP:0010936", - "UBERON:0001556", - "UBERON:0000947", - "HP:0001574", - "HP:0200005", - "UPHENO:0065599", - "HP:0010438", - "HP:0000118", - "UPHENO:0005995", - "UPHENO:0020068", - "UBERON:0007830", - "HP:0007364", - "UPHENO:0080079", + "UPHENO:0002816", + "HP:0040195", + "UPHENO:0087518", "HP:0012130", "UBERON:0002405", + "UPHENO:0005437", "NCBITaxon:2759", - "UPHENO:0079839", - "UPHENO:0021672", + "UPHENO:0080393", + "UPHENO:0002656", + "UPHENO:0075943", "UBERON:0000481", "HP:0000957", - "UBERON:0002472", - "HP:0002977", - "UPHENO:0075195", - "UBERON:0005899", - "UPHENO:0087518", - "NCBITaxon:33154", - "UPHENO:0002725", - "UPHENO:0071309", - "UBERON:0001893", - "NCBITaxon:33208", + "UPHENO:0014285", "UPHENO:0080200", - "HP:0100886", - "UPHENO:0020888", + "HP:0000582", + "UPHENO:0002736", + "UBERON:0001690", + "UPHENO:0031194", + "UBERON:0001893", + "UPHENO:0080079", + "HP:0007364", "HP:0000252", + "UPHENO:0003049", "HP:0003272", - "UPHENO:0088321", - "UPHENO:0004459", - "UPHENO:0003020", - "UPHENO:0004536", - "UPHENO:0003116", - "HP:0004377", + "UPHENO:0003004", + "NCBITaxon:33208", + "HP:0000240", + "UPHENO:0003001", + "UBERON:0001981", + "NCBITaxon:131567", + "UBERON:0008202", + "UPHENO:0005206", + "HP:0010469", + "UPHENO:0005573", + "UPHENO:0046405", + "NCBITaxon:33154", + "UPHENO:0067030", + "UBERON:0002472", + "HP:0002977", + "UPHENO:0085330", + "UBERON:0003129", + "UPHENO:0066903", + "HP:0100547", + "HP:0000144", + "UPHENO:0075220", + "UBERON:0001691", + "UPHENO:0033628", + "HP:0000929", + "HP:0010468", + "UPHENO:0001303", + "UPHENO:0076727", + "UPHENO:0002697", + "UBERON:0003608", + "UBERON:0000473", + "HP:0001751", + "HP:0000035", + "UBERON:0001709", + "HP:0000356", + "UPHENO:0005986", + "UBERON:0001272", + "UPHENO:0069046", + "UPHENO:0002901", + "UPHENO:0002903", + "HP:0032076", + "UPHENO:0031124", + "UBERON:5101466", + "HP:0031703", + "UBERON:0002105", + "UPHENO:0086159", + "UPHENO:0031144", + "UPHENO:0076730", + "UPHENO:0087006", + "HP:0002119", + "HP:0001626", + "GO:0000003", + "UPHENO:0046531", + "UPHENO:0001440", + "UPHENO:0011531", + "UPHENO:0001134", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "UPHENO:0072355", + "UBERON:0006925", + "UBERON:0002368", + "UPHENO:0079839", + "UPHENO:0002962", + "UPHENO:0002632", + "UPHENO:0002529", + "UPHENO:0002574", + "UBERON:0002530", + "UPHENO:0003094", "UPHENO:0063565", "HP:0001392", - "UPHENO:0086045", - "UBERON:0001449", - "UPHENO:0002948", - "UPHENO:0085984", - "CL:0000586", - "UBERON:0012359", - "HP:0001881", - "UBERON:0003113", - "UPHENO:0041212", - "UBERON:0000178", - "UPHENO:0088319", - "UBERON:0000949", - "UBERON:0001733", - "HP:0004348", - "HP:0002715", - "CL:0000255", - "CL:0000219", - "UPHENO:0085875", - "UPHENO:0035147", - "UBERON:0002387", - "HP:0010987", - "HP:0011893", - "UBERON:0002390", - "UPHENO:0085410", - "UPHENO:0000541", - "HP:0002031", - "HP:0001373", - "UBERON:0012476", - "UPHENO:0000543", - "UPHENO:0001440", - "HP:0002624", - "UBERON:0002530", - "UBERON:0002423", - "UBERON:0002365", - "UBERON:0002330", + "HP:0004377", "UBERON:0002417", - "NBO:0000417", - "HP:0000924", - "UPHENO:0074572", - "UBERON:0006925", - "UBERON:0002368", - "CL:0000408", - 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"UBERON:0012357", - "UPHENO:0084842", - "HP:0009824", - "UBERON:5003625", - "UPHENO:0080369", - "UPHENO:0012274", - "UPHENO:0012541", - "UPHENO:0081790", - "UBERON:0012180", - "UPHENO:0068971", - "UPHENO:0053580", - "HP:0040019", - "UPHENO:0069293", - "HP:0200007", - "HP:0009821", - "UBERON:0001464", - "UPHENO:0087602", - "UBERON:0001271", - "UBERON:0010425", - "UBERON:0007823", - "UPHENO:0087974", - "UBERON:0004770", - "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0005913", - "UBERON:0000982", - "HP:0002644", - "HP:0000504", - "UPHENO:0002813", - "UPHENO:0087980", - "UBERON:0001457", - "UBERON:0008907", - "UPHENO:0079871", - "UBERON:0003463", - "UPHENO:0060026", - "HP:0001367", - "UBERON:0003828", - "UPHENO:0075945", - "UPHENO:0001001", - "UPHENO:0087892", - "UBERON:0008114", - "UBERON:0007828", - "UBERON:0003840", - "HP:0000271", - "UBERON:0005893", - "UBERON:5002389", - "UPHENO:0087558", - "UBERON:0001712", - "UBERON:0001950", - "UBERON:0003826", - "HP:0012331", - ], - "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation in independent continuant", - "decreased biological_process in multicellular organism", - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "decreased qualitatively biological_process in independent continuant", - "Hypopigmentation of the skin", - "Thrombocytopenia", - "Abnormal platelet count", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of platelet", - "abnormal platelet", - "anucleate cell", - "secretory cell", - "abnormal blood cell", - "obsolete cell", - "Abnormality of chromosome stability", - "Abnormal cellular physiology", - "Abnormality of body height", - "decreased size of the multicellular organism", - "serotonin secreting cell", - "abnormal size of multicellular organism", - "Abnormal myeloid cell morphology", - "Anemia of inadequate production", - "erythrocyte differentiation", - "Sideroblastic anemia", - "myeloid cell differentiation", - "hemopoiesis", - "erythroid lineage cell", - "abnormal erythroid lineage cell morphology", - "immune system process", - "cellular process", - "homeostatic process", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", - "erythrocyte", - "myeloid cell", - "blood cell", - "erythrocyte homeostasis", - "homeostasis of number of cells", - "cellular developmental process", - "Abnormal morphology of the radius", - "abnormal radius bone morphology", - "aplasia or hypoplasia of radius bone", - "radius bone", - "Neurodevelopmental delay", - "decreased length of palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal size of palpebral fissure", - "abnormality of immune system physiology", - "Abnormality of immune system physiology", - "abnormally localised testis", - "abnormally localised anatomical entity in independent continuant", - "Cryptorchidism", - "ureter", - "Abnormal ureter morphology", - "Abnormality of the ureter", - "abnormal ureter morphology", - "Abnormal renal physiology", - "Hypopigmented skin patches", - "Abnormality of the urinary system physiology", - "abnormally decreased functionality of the gonad", - "Cleft palate", - "Craniofacial cleft", - "increased height of anatomical entity in independent continuant", - "increased height of the anatomical entity", - "High palate", - "increased size of the head", - "Increased head circumference", - "skin of head", - "increased length of the epicanthal fold", - "Epicanthus", - "head or neck skin", - "abnormal skin of face morphology", - "upper eyelid", - "skin of face", - "zone of skin", - "abnormal asymmetry of anatomical entity", - "abnormal shape of forehead", - "sloped anatomical entity", - "mandible hypoplasia", - "bone element hypoplasia in face", - "decreased size of the mandible", - "bone of lower jaw", - "lower jaw region", - "facial skeleton", - "facial bone", - "mandible", - "Abnormal mandible morphology", - "facial bone hypoplasia", - "anatomical entity hypoplasia in face", - "abnormal mandible morphology", - "Hypoplastic facial bones", - "abnormal facial skeleton morphology", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Hearing abnormality", - "decreased sensory perception of sound", - "sloped forehead", - "sensory perception of mechanical stimulus", - "abnormal sensory perception of sound", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "decreased qualitatively sensory perception of sound", - "Abnormal conjugate eye movement", - "Strabismus", - "abnormal sensory perception", - "sensory perception of light stimulus", - "decreased qualitatively visual perception", - "visual perception", - "abnormal sensory perception of light stimulus", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of globe size", - "cell development", - "abnormal size of eyeball of camera-type eye", - "cranial nerve related reflex", - "Abnormal vestibular function", - "Abnormality of eye movement", - "abnormality of ear physiology", - "eye movement", - "abnormal eye movement", - "abnormal physiologic nystagmus", - "abnormal vestibulo-ocular reflex", - "Abnormal vestibulo-ocular reflex", - "internal female genitalia", - "abnormal internal female genitalia morphology", - "female organism", - "abnormal uterus", - "abnormal female reproductive system", - "bicornuate anatomical entity", - "Abnormality of the female genitalia", - "Abnormality of the uterus", - "uterus", - "shape uterus", - "oviduct", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", - "abnormal anatomical entity morphology in the skeleton of manus", - "manual digit 1", - "Abnormal finger phalanx morphology", - "manual digit 1 digitopodial skeleton", - "abnormal manual digit 1 morphology", - "Triphalangeal thumb", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", - "manus bone", - "excretory tube", - "manual digit 1 phalanx endochondral element", - "abnormal incomplete closing of the secondary palate", - "phalanx of manus", - "abnormal female reproductive system morphology", - "digit 1 digitopodial skeleton", - "skeleton of manual acropodium", - "skeleton of manual digitopodium", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", - "body part movement", - "neuromuscular process", - "voluntary musculoskeletal movement", - "kinesthetic behavior", - "multicellular organismal movement", - "Abnormality of movement", - "abnormal voluntary musculoskeletal movement", - "Recurrent urinary tract infections", - "involuntary movement behavior", - "Bicornuate uterus", - "abnormal behavior", - "Hyperreflexia", - "increased qualitatively response to stimulus", - "reflex", - "abnormal response to external stimulus", - "decreased embryo development", - "abnormal embryo development", - "herniated abdominal wall", - "Abnormality of connective tissue", - "Abnormality of the abdominal wall", - "Hernia", - "herniated anatomical entity", - "Hernia of the abdominal wall", - "Abnormal umbilicus morphology", - "umbilicus", - "connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", - "abnormal cardiac atrium morphology", - "interatrial septum", - "abnormal interatrial septum morphology", - "abnormal cardiac atrium morphology in the independent continuant", - "Abnormal atrial septum morphology", - "abnormally increased volume of anatomical entity", - "Abnormal ventricular septum morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "hypertrophic cardiac ventricle", - "cardiac septum", - "metabolic process", - "Abnormal cardiac septum morphology", - "increased size of the heart right ventricle", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "abnormal pulmonary valve morphology", - "interventricular septum", - "abnormal cardiac septum morphology", - "Abnormal pulmonary valve physiology", - "abnormality of cardiovascular system physiology", - "skin of eyelid", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "hypertrophic heart right ventricle", - "heart layer", - "Abnormal myocardium morphology", - "layer of muscle tissue", - "abnormal myocardium morphology", - "abnormal abdominal wall", - "embryonic cardiovascular system", - "heart vasculature", - "response to stimulus", - "ductus arteriosus", - "abnormal number of anatomical enitites of type myeloid cell", - "thoracic segment blood vessel", - "coronary vessel", - "abnormal coronary vessel morphology", - "aplasia or hypoplasia of mandible", - "trunk blood vessel", - "abnormal incomplete closing of the ductus arteriosus", - "vasculature of organ", - "abnormal female reproductive organ morphology", - "abnormally decreased functionality of the anatomical entity", - "vasculature of trunk", - "heart blood vessel", - "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", - "aorta", - "bone of jaw", - "aortic system", - "great vessel of heart", - "Abnormal aortic morphology", - "shape longitudinal arch of pes", - "flattened anatomical entity", - "longitudinal arch of pes", - "flattened anatomical entity in independent continuant", - "Pes planus", - "flat anatomical entity", - "Toe syndactyly", - "abnormally fused anatomical entity and pedal digit", - "abnormal shape of frontal cortex", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal head bone morphology", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", - "Puberty and gonadal disorders", - "central nervous system cell part cluster", - "lobe of cerebral hemisphere", - "cerebral hemisphere", - "manual digit 1 plus metapodial segment", - "abnormal cerebral hemisphere morphology", - "vault of skull", - "female reproductive system", - "dermal skeleton", - "primary subdivision of skull", - "primary subdivision of cranial skeletal system", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", - "Hearing impairment", - "abnormal neurocranium morphology", - "gray matter", - "dermal bone", - "aplasia or hypoplasia of skull", - "frontal lobe", - "pallium", - "abnormal vault of skull", - "Abnormality of the forehead", - "forehead", - "abnormal frontal cortex morphology", - "tetrapod frontal bone", - "neurocranium", - "abnormal great vessel of heart morphology", - "frontal cortex", - "abnormal forehead", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", - "abnormal anus", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "skeleton of lower jaw", - "abnormal small intestine", - "abnormal nose morphology", - "abnormal eyelid morphology", - "manus", - "dermatocranium", - "Abnormal axial skeleton morphology", - "neural tube", - "presumptive structure", - "vertebra", - "abnormal ileum morphology", - "neural tube closure", - "cranium", - "trunk bone", - "Aplasia/hypoplasia involving bones of the extremities", - "entire sense organ system", - "abnormal response to stimulus", - "embryo development ending in birth or egg hatching", - "vertebral column", - "Abnormality of the vasculature", - "Vertebral arch anomaly", - "face", - "aplasia or hypoplasia of manual digit", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "abnormal neural tube morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal heart valve morphology", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", - "abnormal vertebral column", - "abnormal spinal cord morphology", - "Aganglionic megacolon", - "tube formation", - "anatomical structure formation involved in morphogenesis", - "abnormal aortic valve morphology", - "Abnormality of the inner ear", - "abnormal vertebral column morphology", - "abnormal common carotid artery plus branches morphology", - "Abnormal anus morphology", - "abnormal anatomical entity mass density", - "abnormal systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "epithelium development", - "abnormal head", - "artery", - "jaw region", - "arterial system", - "Decreased bone element mass density", - "Abnormal cranial nerve physiology", - "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "Clubbing", - "Spinal dysraphism", - "decreased qualitatively pigmentation", - "decreased multicellular organism mass", - "innominate bone", - "Frontal bossing", - "nerve", - "gray matter of forebrain", - "heart plus pericardium", - "Abnormality of the orbital region", - "roof of mouth", - "Pulmonic stenosis", - "Abnormal peripheral nervous system morphology", - "Atypical behavior", - "Abnormal upper limb bone morphology", - "chemosensory system", - "abnormally decreased number of anatomical entity", - "paralysed cranial nerve", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "neural tube formation", - "postcranial axial skeletal system", - "Clubbing of toes", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "skeletal system", - "curved anatomical entity in independent continuant", - "hindlimb skeleton", - "endochondral bone", - "subdivision of skeleton", - "appendage girdle complex", - "subdivision of head", - "ulna endochondral element", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "Abnormal morphology of ulna", - "pectoral appendage", - "deviation of manual digit 5 towards the middle", - "abnormal opening of the anatomical entity", - "bone element", - "Abnormality of limbs", - "abnormal number of anatomical enitites of type platelet", - "abnormal forelimb zeugopod morphology", - "Abnormal forebrain morphology", - "paired limb/fin", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "septum", - "Abnormality of limb bone morphology", - "developing anatomical structure", - "skeleton of limb", - "forelimb zeugopod skeleton", - "prepuce", - "subdivision of oviduct", - "limb bone", - "pectoral appendage skeleton", - "Abnormal forearm bone morphology", - "morphogenesis of an epithelium", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "abnormal digestive system morphology", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "spinal cord", - "appendicular skeleton", - "zeugopod", - "skeletal element", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Abnormal long bone morphology", - "absent sperm in the semen", - "vasculature", - "Spina bifida", - "circulatory system", - "embryonic morphogenesis", - "abnormal liver", - "Abnormal blood vessel morphology", - "decreased pigmentation in independent continuant", - "tissue development", - "venous blood vessel", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal blood vessel morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal embryo morphology", - "Abnormal venous morphology", - "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "cortex of cerebral lobe", - "abnormal vascular system morphology", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", - "cardiovascular system", - "blood vasculature", - "tube development", - "acropodium region", - "blood vessel", - "germ cell", - "outflow tract", - "abnormal vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", - "penis", - "Orofacial cleft", - "digestive system element", - "intromittent organ", - "vein", - "multi cell part structure", - "abnormal prepuce of penis morphology", - "myocardium", - "external ear", - "abnormal telencephalon morphology", - "Abnormal jaw morphology", - "Meckel diverticulum", - "irregular bone", - "organism", - "secondary palate", - "autopod bone", - "Neurodevelopmental abnormality", - "manual digit phalanx endochondral element", - "Abnormality of the immune system", - "abnormal skin of head morphology", - "abnormal neural tube closure", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "nervous system process", - "skeleton of digitopodium", - "Abnormal preputium morphology", - "forelimb bone", - "Abnormal uvula morphology", - "abnormal central nervous system morphology", - "ventricular system of central nervous system", - "Abnormal shape of the frontal region", - "central nervous system", - "abnormal arm", - "Abnormality of limb bone", - "autopod endochondral element", - "cognition", - "ventricular system of brain", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", - "decreased length of forelimb zeugopod bone", - "abnormally increased number of anatomical entity", - "Facial asymmetry", - "Abnormal leukocyte count", - "anatomical entity dysfunction in independent continuant", - "abnormal brain morphology", - "abnormal heart layer morphology", - "Abnormal frontal bone morphology", - "Abnormality of lower limb joint", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "cerebrospinal fluid", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", - "Hydrocephalus", - "Neural tube defect", - "organ system subdivision", - "abnormal nervous system morphology", - "forelimb zeugopod bone", - "Abnormal toe phalanx morphology", - "arch of centrum of vertebra", - "abnormality of internal male genitalia physiology", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal nervous system", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "Abnormal nervous system morphology", - "sense organ", - "material entity", - "increased reflex", - "long bone", - "internal male genitalia", - "curved anatomical entity", - "digestive system", - "decreased length of long bone", - "abnormal anatomical entity morphology in the brain", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "anatomical line between pupils", - "abnormal neocortex morphology", - "decreased biological_process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal heart morphology", - "appendage girdle region", - "dorsum", - "cranial nerve", - "testis", - "anatomical system", - "upper digestive tract", - "Small intestinal stenosis", - "male gamete generation", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "Abnormality of blood and blood-forming tissues", - "abnormality of multicellular organism height", - "abnormal limb morphology", - "upper urinary tract", - "right cardiac chamber", - "manual digitopodium region", - "abnormal enteric nervous system morphology", - "Abnormality of male external genitalia", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal voluntary movement behavior", - "tissue", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "abnormal amniotic fluid", - "system process", - "male gamete", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "embryo", - "Absent testis", - "abnormal limb bone", - "anatomical structure morphogenesis", - "Aplasia/Hypoplasia affecting the uvea", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "vessel", - "lateral structure", - "abnormal blood cell morphology", - "abnormal cell", - "male reproductive organ", - "disconnected anatomical group", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "Anal atresia", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "anterior region of body", - "Abnormality of the upper limb", - "entity", - "Decreased anatomical entity mass", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "All", - "Abnormal bone structure", - "system development", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "manual digit", - "abnormal reproductive process", - "abnormal shape of continuant", - "pulmonary valve", - "cellular organisms", - "vertebral element", - "viscus", - "bone of free limb or fin", - "abnormal pedal digit morphology", - "abnormal ear", - "Abnormal external genitalia", - "material anatomical entity", - "abnormal internal naris", - "Cranial nerve paralysis", - "developmental process", - "abnormal ureter", - "absent anatomical entity in the independent continuant", - "manual digit 1 or 5", - "abdominal segment bone", - "gonad", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "ganglion", - "sensory system", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", + "UBERON:0002384", + "UBERON:0012141", + "UBERON:0005451", + "UPHENO:0084653", + "HP:0005922", + "UBERON:0002355", + "HP:0006265", + "UPHENO:0046487", + "UPHENO:0049940", + "UPHENO:0084761", + "HP:0000483", + "UPHENO:0001360", + "UPHENO:0003799", + "HP:0008373", + "HP:0005927", + "HP:0045060", + "UPHENO:0076760", + "UPHENO:0084448", + "GO:0007275", + "UPHENO:0078288", + "HP:0001159", + "UPHENO:0078179", + "UPHENO:0053330", + "UPHENO:0082834", + "HP:0004209", + "UBERON:0002412", + "GO:0001503", + "HP:0011849", + "UPHENO:0082835", + "UPHENO:0076736", + "UBERON:5003625", + "UPHENO:0001031", + "HP:0011446", + "HP:0030084", + "HP:0000377", + "HP:0004097", + "HP:0001770", + "UPHENO:0086143", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UBERON:0002094", + "UPHENO:0046552", + "UPHENO:0068839", + "HP:0000478", + "UPHENO:0046554", + "UPHENO:0076804", + "UPHENO:0046505", + "HP:0001763", + "UPHENO:0068921", + "UPHENO:0087612", + "UPHENO:0046594", + "HP:0410014", + "UPHENO:0069292", + "UPHENO:0081581", + "UPHENO:0012274", + "CL:0002092", + "UPHENO:0046484", + "HP:0000568", + "UPHENO:0069064", + "UPHENO:0069125", + "UPHENO:0087892", + "UPHENO:0001001", + "UPHENO:0012440", + "UPHENO:0002987", + "UPHENO:0002866", + "UPHENO:0069030", + "UPHENO:0046483", + "UBERON:0001005", + "UPHENO:0046472", + "UBERON:0003126", + "UPHENO:0002967", + "UPHENO:0068838", + "UBERON:0012180", + "UPHENO:0063588", + "UPHENO:0068971", + "UPHENO:0046397", + "UPHENO:0012312", + "UPHENO:0002902", + "UPHENO:0076754", + "UPHENO:0069194", + "UPHENO:0003015", + "UBERON:0003828", + "UPHENO:0086088", + "UBERON:0003463", + "UPHENO:0066905", + "UBERON:0003840", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0046465", + "UPHENO:0087980", + "UBERON:0011595", + "UPHENO:0081598", + "UPHENO:0081608", + "UPHENO:0003021", + "HP:0001367", + "UBERON:0007832", + ], + "has_phenotype_closure_label": [ + "decreased biological_process in multicellular organism", + "Hypopigmentation of the skin", + "Abnormal platelet morphology", + "Thrombocytopenia", + "Abnormal platelet count", + "decreased number of platelet", + "number of platelet phenotype", + "serotonin secreting cell", + "anucleate cell", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", "Abnormal cellular immune system morphology", - "absent sperm in the independent continuant", - "pelvic region element", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "abnormal internal genitalia", - "ocular surface region", - "internal genitalia", - "limb", - "respiratory system", - "hip joint", - "cell", - "abnormal interventricular septum morphology", - "Abnormality of the mouth", - "abnormal ductus arteriosus morphology", - "Finger syndactyly", - "abnormal peripheral nervous system morphology", - "bodily fluid", - "multi-tissue structure", - "abnormal ear morphology", - "abnormal number of anatomical enitites of type sperm", - "hepatobiliary system", - "subdivision of skeletal system", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "dorsal region element", - "Abnormality of the cardiovascular system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "exocrine system", - "Abnormality of the genitourinary system", - "shape digit", - "head bone", - "absent germ cell", - "Abnormal heart valve physiology", - "changed biological_process rate", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal systemic arterial morphology", - "spermatogenesis", - "abnormal shape of palpebral fissure", - "delayed biological_process", - "systemic artery", - "developmental process involved in reproduction", - "Abnormality of the nose", - "organism substance", + "decreased number of hematopoietic cell", + "leukocyte", + "decreased number of anatomical structure in the multicellular organism", + "decreased number of leukocyte in the blood", + "decreased number of anatomical structure", + "Leukopenia", + "nucleate cell", + "motile cell", + "decreased number of anatomical entity in the blood", + "Abnormality of chromosome stability", + "Abnormal cellular physiology", + "decreased height of the multicellular organism", + "decreased size of the multicellular organism", + "size of multicellular organism phenotype", + "cellular developmental process", + "decreased number of anatomical entity in the multicellular organism", + "blood cell", + "Pyridoxine-responsive sideroblastic anemia", + "Abnormal bone marrow cell morphology", + "Sideroblastic anemia", + "homeostatic process", + "immune system process", + "cellular process", + "erythrocyte differentiation", + "Abnormal erythroid lineage cell morphology", + "cell development", + "Abnormal myeloid cell morphology", + "Anemia of inadequate production", + "hemopoiesis", + "erythroid lineage cell", + "homeostasis of number of cells", + "erythrocyte homeostasis", + "bone cell", + "aplasia or hypoplasia of radius bone", + "Abnormal morphology of the radius", + "radius bone phenotype", + "radius bone morphology phenotype", + "Neurodevelopmental delay", + "shape palpebral fissure", + "Abnormal shape of the palpebral fissure", + "decreased size of the anatomical conduit", + "decreased size of the orifice", + "decreased length of ectoderm-derived structure", + "decreased length of palpebral fissure", + "decreased size of the palpebral fissure", + "decreased length of orifice", + "decreased length of anatomical conduit", + "immune system physiology phenotype", + "Unusual infection", + "localised male reproductive organ", + "localised organ", + "Cryptorchidism", + "localised anatomical structure", + "ureter", + "excretory tube phenotype", + "Abnormal ureter morphology", + "Abnormality of the ureter", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", + "cavitated compound organ physiology phenotype", + "abdominal segment element physiology phenotype", + "kidney physiology phenotype", + "Abnormal renal physiology", + "gonad physiology phenotype", + "decreased functionality of the gonad", + "decreased functionality of the reproductive structure", + "Cleft palate", + "incomplete closing of the structure with developmental contribution from neural crest", + "Craniofacial cleft", + "incomplete closing of the multi-tissue structure", + "increased size of the structure with developmental contribution from neural crest", + "anatomical entity height phenotype", + "increased height of the anatomical structure", + "High palate", + "increased height of the material anatomical entity", + "increased height of the roof of mouth", + "increased height of the anatomical entity", + "immune system morphology phenotype", + "increased height of the multicellular anatomical structure", + "increased height of the ectoderm-derived structure", + "increased size of the neural crest-derived structure", + "increased height of the multi-tissue structure", + "number of leukocyte phenotype", + "increased length of the ectoderm-derived structure", + "increased length of the organ part", + "increased length of the epicanthal fold", + "Epicanthus", + "upper eyelid", + "skin of head morphology phenotype", + "head or neck skin", + "skin of face", + "zone of skin", + "increased size of the zone of organ", + "skin of head", + "asymmetry of anatomical entity phenotype", + "Abnormal leukocyte count", + "Facial asymmetry", + "asymmetry of face phenotype", + "Sloping forehead", + "forehead morphology phenotype", + "sloped anatomical entity", + "lower jaw region", + "dermal bone phenotype", + "increased height of the structure with developmental contribution from neural crest", + "intramembranous bone phenotype", + "bone element hypoplasia in face", + "secretory cell", + "bone of lower jaw phenotype", + "mandible morphology phenotype", + "mandible", + "dentary phenotype", + "facial bone hypoplasia", + "bone of lower jaw", + "anatomical entity hypoplasia in face", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "mandible hypoplasia", + "sensory perception of sound", + "decreased sensory perception of sound", + "sloped forehead", + "sensory perception of mechanical stimulus", + "decreased qualitatively sensory perception of sound", + "Hearing abnormality", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased system process", + "Hearing impairment", + "nose phenotype", + "naris", + "olfactory organ", + "compound organ physiology phenotype", + "posterior nasal aperture morphology phenotype", + "naris atresia", + "posterior nasal aperture", + "Abnormal conjugate eye movement", + "Strabismus", + "visual perception", + "sensory perception of light stimulus", + "decreased qualitatively system process", + "decreased qualitatively visual perception", + "sensory perception phenotype", + "decreased qualitatively nervous system process", + "Abnormality of globe size", + "sensory perception of light stimulus phenotype", + "size of eyeball of camera-type eye phenotype", + "decreased size of the ectoderm-derived structure", + "internal ear physiology phenotype", + "eye movement", + "vestibulo-ocular reflex phenotype", + "Abnormal vestibulo-ocular reflex", + "Abnormality of eye movement", + "multi organ part structure physiology phenotype", + "Abnormal vestibular function", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "female organism", + "internal female genitalia morphology phenotype", + "decreased functionality of the organ", + "oviduct", + "uterus", + "bicornuate anatomical entity", + "shape uterus", + "female reproductive organ morphology phenotype", + "Abnormality of the uterus", + "subdivision of oviduct phenotype", + "internal female genitalia", + "Abnormal finger phalanx morphology", + "Triphalangeal thumb", + "manual digitopodium bone", + "digit 1", + "manual digit 1 morphology phenotype", + "decreased sensory perception", + "manual digit bone", + "number of anatomical entities of type anatomical entity in blood phenotype", + "manual digit 1", + "ureter morphology phenotype", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Abnormality of the immune system", + "manual digit phalanx endochondral element", + "facial bone phenotype", + "manual digit 1 digitopodial skeleton", + "manus bone", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "manual digit 1 plus metapodial segment", + "neuromuscular process", + "kinesthetic behavior", + "voluntary musculoskeletal movement", + "voluntary movement behavior phenotype", + "system process phenotype", + "reflex phenotype", + "increased response to stimulus", + "Recurrent urinary tract infections", + "involuntary movement behavior", + "response to external stimulus phenotype", + "reflex", + "increased qualitatively response to stimulus", + "Global developmental delay", + "reflexive behavior", + "behavior phenotype", + "Hyperreflexia", + "multicellular organismal movement phenotype", + "decreased embryo development", + "decreased qualitatively multicellular organismal process", + "anatomical structure development phenotype", + "multicellular organismal process phenotype", + "Growth delay", + "decreased qualitatively anatomical structure development", + "decreased qualitatively embryo development", + "delayed growth", + "embryo development rate phenotype", + "embryo development phenotype", + "Abnormality of vision", + "anatomical wall phenotype", + "Hernia", + "Abnormality of connective tissue", + "digit 1 digitopodial skeleton", + "tissue phenotype", + "herniated abdominal wall", + "connective tissue", + "erythrocyte morphology phenotype", + "umbilicus", + "abdominal wall phenotype", + "herniated anatomical entity", + "facial skeleton", + "abdominal viscera", + "incomplete closing of the organ part", + "embryo phenotype", + "organism substance phenotype", + "Renal insufficiency", + "late embryo", + "Abnormality of prenatal development or birth", + "uterus phenotype", + "Oligohydramnios", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "embryonic development/birth phenotype", + "cardiac atrium morphology phenotype", + "metabolic process", + "Abnormal cardiac septum morphology", + "interatrial septum", + "Abnormal atrial septum morphology", + "cardiac septum", + "increased size of the cardiac ventricle", + "incomplete closing of the interventricular septum", + "Abnormality of thumb phalanx", + "increased size of the mesoderm-derived structure", + "cardiac septum morphology phenotype", + "right cardiac chamber phenotype", + "cardiac septum phenotype", + "increased size of the lateral structure", + "size of cardiac ventricle phenotype", + "interventricular septum morphology phenotype", + "heart right ventricle morphology phenotype", + "cardiac ventricle phenotype", + "septum phenotype", + "incomplete closing of the cardiac septum", + "cardiac chamber morphology in the heart phenotype", + "hypertrophic cardiac ventricle", + "cardiac chamber phenotype", + "septum", + "increased size of the cardiac chamber", + "incomplete closing of the septum", + "Intrauterine growth retardation", + "decreased functionality of the multicellular anatomical structure", + "mesoderm-derived structure physiology phenotype", + "anatomical entity dysfunction in independent continuant", + "decreased nervous system process", + "decreased functionality of the organ component layer", + "Abnormality of the abdominal wall", + "organ component layer physiology phenotype", + "heart layer phenotype", + "layer of muscle tissue phenotype", + "Abnormal choanae morphology", + "layer of muscle tissue", + "decreased functionality of the material anatomical entity", "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "neural tube development", - "external genitalia", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "hematopoietic system", - "multicellular anatomical structure", - "abnormal leukocyte morphology", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "Abnormal myocardium morphology", + "decreased multicellular organism development", + "heart layer", + "decreased functionality of the anatomical entity", + "decreased multicellular organismal process", + "incomplete closing of the trunk blood vessel", + "material anatomical entity morphology in the heart phenotype", + "systemic artery phenotype", + "blood vessel phenotype", + "nervous system process phenotype", + "incomplete closing of the coronary vessel", + "coronary vessel morphology phenotype", + "mesoderm-derived structure morphology in the heart phenotype", + "incomplete closing of the heart blood vessel", + "incomplete closing of the systemic artery", + "incomplete closing of the ductus arteriosus", + "embryonic cardiovascular system", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "trunk blood vessel phenotype", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "vessel phenotype", + "arterial blood vessel phenotype", + "heart vasculature", + "sensory perception of sound phenotype", + "response to stimulus", + "ductus arteriosus", + "incomplete closing of the artery", + "incomplete closing of the thoracic segment blood vessel", + "thoracic segment blood vessel", + "myeloid cell", + "incomplete closing of the blood vessel", + "anatomical entity morphology in the heart phenotype", + "Patent ductus arteriosus", + "anatomical structure morphology in the heart phenotype", + "hematopoietic cell", + "semi-lunar valve", + "neuromuscular process phenotype", + "heart", + "aortic valve morphology phenotype", + "platelet phenotype", "Abnormal heart morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "Abnormal spinal cord morphology", - "neuron projection bundle", - "Abnormal esophagus morphology", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "abnormal bone element mass density", - "main body axis", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal cardiac atrium morphology in the heart", - "morphogenesis of embryonic epithelium", - "haploid cell", - "conceptus", - "abnormal vertebra morphology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "epithelial tube morphogenesis", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "abnormal male reproductive organ morphology", - "occurrent", - "pedal digit phalanx endochondral element", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormal small intestine morphology", - "Azoospermia", + "Abnormal heart valve morphology", + "semi-lunar valve morphology phenotype", + "heart morphology phenotype", + "internal ear", + "heart left ventricle", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "cardiac valve", + "bone of jaw", + "aortic system", + "aortic valve", + "thoracic cavity blood vessel", + "great vessel of heart", + "Abnormal aortic morphology", + "aorta morphology phenotype", + "decreased functionality of the anatomical structure", + "great vessel of heart morphology phenotype", + "aorta", + "decreased number of material anatomical entity in the multicellular organism", + "longitudinal arch of pes", + "Pes planus", + "flat anatomical entity", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "trunk region element physiology phenotype", + "Toe syndactyly", + "fused anatomical entity and pedal digit", + "incomplete closing of the anatomical wall", + "pedal digit phenotype", + "anatomical entity morphology in the pelvic complex phenotype", "platelet", "Growth abnormality", - "hip", - "primary neural tube formation", - "renal pelvis/ureter", - "male urethral meatus", - "reproductive organ", - "anus atresia", - "abnormal skull morphology", - "Short long bone", - "Ventricular septal defect", - "small intestine", - "subdivision of organism along main body axis", + "multicellular organism mass phenotype", + "growth", + "radius bone", + "growth phenotype", + "Weight loss", + "obsolete cell", + "material anatomical entity mass phenotype", + "Decreased body weight", + "Abnormality of body weight", + "incomplete closing of the arterial blood vessel", + "decreased material anatomical entity mass", + "anatomical structure mass phenotype", + "decreased multicellular anatomical structure mass", + "Abnormal calvaria morphology", + "frontal cortex morphology phenotype", + "neurocranium morphology phenotype", + "olfactory system morphology phenotype", + "cranium morphology phenotype", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "lobe of cerebral hemisphere", + "shape of frontal cortex phenotype", + "primary subdivision of skull", + "cranium", + "frontal cortex", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", "prominent forehead", - "abnormal incomplete closing of the arch of centrum of vertebra", - "segment of manus", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "aplasia or hypoplasia of anatomical entity", - "limb long bone", - "compound organ", - "eye", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "external male genitalia", - "Hypogonadism", - "urethral opening", - "arm bone", - "Abnormal reflex", - "hindlimb joint", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Short palpebral fissure", - "Abnormal skeletal morphology", - "increased pigmentation", - "skeleton of pectoral complex", - "specifically dependent continuant", - "abnormal autonomic nervous system morphology", + "brain gray matter phenotype", + "forehead", + "tetrapod frontal bone", + "neurocranium bone", + "gray matter of forebrain phenotype", + "decreased number of cell", + "gray matter phenotype", + "cortex of cerebral lobe", + "primary subdivision of cranial skeletal system", + "vault of skull", + "cardiovascular system physiology phenotype", + "prominent anatomical entity", + "neurocranium", + "bone of craniocervical region", + "cranial bone", + "intramembranous bone", + "membrane bone", + "heart plus pericardium", + "gray matter of forebrain", + "anus", + "closing of the multicellular anatomical structure", + "material anatomical entity atresia", + "jaw skeleton morphology phenotype", + "multicellular anatomical structure atresia", + "closing of the anatomical structure", + "anus morphology phenotype", + "bone marrow", + "anus atresia", + "anus phenotype", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "closing of the ectoderm-derived structure", + "Abnormal ileum morphology", + "parasympathetic nervous system", + "large intestine morphology phenotype", + "autonomic nervous system", + "Abnormal peripheral nervous system ganglion morphology", + "Abnormal autonomic nervous system morphology", "ganglion of peripheral nervous system", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", + "Abnormal large intestine morphology", + "interatrial septum morphology phenotype", + "Abnormality of the autonomic nervous system", + "haemolymphatic fluid", + "ganglion morphology phenotype", + "enteric nervous system", + "Aganglionic megacolon", + "enteric ganglion", + "Megacolon", + "lower digestive tract", + "Abnormal ganglion morphology", + "stylopod", + "late embryo phenotype", + "valve", + "Abnormal femur morphology", + "decreased qualitatively pigmentation", + "increased length of the head or neck skin", + "innominate bone", + "hip joint morphology phenotype", + "Aplasia/Hypoplasia of the radius", + "protruding anatomical entity", + "Abnormal pelvic girdle bone morphology", + "pelvic region of trunk", + "hip", + "appendage girdle region", + "girdle skeleton", + "trunk bone", + "Lower extremity joint dislocation", + "Abnormal hip bone morphology", + "skeletal joint morphology phenotype", + "heart layer morphology phenotype", + "hip dislocation", + "skeletal joint phenotype", + "synovial joint morphology phenotype", + "girdle bone/zone", + "decreased number of material anatomical entity", + "articular system", + "Hip dislocation", + "outflow part of left ventricle morphology phenotype", + "vertebral column", + "tube closure phenotype", + "ileum", + "embryonic tissue", + "forehead phenotype", + "neural tube closure", + "dermatocranium", + "Abnormal axial skeleton morphology", + "Vertebral arch anomaly", + "increased number of brain ventricle in the cerebrospinal fluid", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "incomplete closing of the material anatomical entity", + "anatomical structure morphogenesis", "Abnormal ear physiology", "ecto-epithelium", - "abnormal closing of the anatomical entity", - "reproductive structure", - "tunica fibrosa of eyeball", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "upper limb segment", - "biological_process", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "absent gamete", - "naris", - "iris", - "abnormal number of anatomical enitites of type anatomical entity", - "organ", - "pedal digit plus metapodial segment", - "reproduction", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "Abnormality of the peripheral nervous system", - "trunk region element", - "cerebral cortex", - "tracheobronchial tree", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "abnormal synovial joint morphology", - "reproductive system", - "multi-limb segment region", - "ventricle of nervous system", - "paralysed anatomical entity", + "Abnormality of the vasculature", + "incomplete closing of the anatomical entity", + "postcranial axial skeleton", + "localised multicellular anatomical structure", + "anatomical structure formation involved in morphogenesis", + "tube formation", + "eyelid morphology phenotype", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "incomplete closing of the vessel", + "presumptive structure", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "entire sense organ system", + "formed organ part", + "bony vertebral centrum", + "cranial neuron projection bundle", + "Clubbing", + "head bone", + "shape digit", + "peripheral nervous system morphology phenotype", + "Abnormal spinal cord morphology", + "nerve phenotype", + "developmental process", + "increased size of the heart right ventricle", + "nervous system morphology phenotype", + "ectoderm-derived structure physiology phenotype", + "manual digit 1 or 5", + "abdominal segment bone", + "Cranial nerve paralysis", + "increased number of multicellular anatomical structure", + "Spinal dysraphism", + "Frontal bossing", + "nerve", + "esophagus morphology phenotype", + "cranial nerve", + "internal naris atresia", + "musculature of body", + "nerve of head region", + "phenotype", + "anatomical space", "pelvic appendage", - "abnormal eyeball of camera-type eye", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "body proper", - "abnormal respiratory tube morphology", + "body part movement", + "cranial nerve phenotype", + "artery phenotype", + "autopodial extension", + "Abnormal cranial nerve physiology", + "appendage girdle complex", + "Abnormal limb bone morphology", + "reproductive process", + "kidney phenotype", + "limb morphology phenotype", + "cognition", + "leukocyte morphology phenotype", + "skeletal element phenotype", + "nerve of head region phenotype", + "decreased functionality of the myocardium", + "limb bone phenotype", + "face", + "multicellular anatomical structure mass phenotype", + "aplasia or hypoplasia of manual digit", + "bone of pectoral complex morphology phenotype", + "increased number of brain ventricle/choroid plexus", + "vertebral column phenotype", + "Hernia of the abdominal wall", + "autopodial extension phenotype", + "Abnormal forearm bone morphology", + "forelimb zeugopod morphology phenotype", + "limb skeleton subdivision", + "femur", + "skull", + "cerebral hemisphere", + "bone of pectoral complex phenotype", + "vault of skull phenotype", + "epithelium development", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "cerebral hemisphere gray matter", + "skin of body", + "Abnormal peripheral nervous system morphology", + "arm bone phenotype", + "olfactory organ phenotype", + "multi-limb segment region phenotype", + "Nystagmus", + "esophagus", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "endochondral element phenotype", + "forelimb bone phenotype", + "bone element", + "decreased reproductive process", + "skeletal element", + "zeugopod", + "system development", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "bony vertebral centrum morphology phenotype", + "Abnormality of the upper limb", + "reproductive system morphology phenotype", + "olfactory system", + "Neoplasm by anatomical site", + "limb", + "increased size of the material anatomical entity", + "respiratory system", + "hip joint", + "Small intestinal stenosis", + "flat longitudinal arch of pes", + "neuron projection bundle phenotype", + "Abnormal morphology of ulna", + "multicellular organismal reproductive process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "pectoral appendage skeleton", + "alimentary part of gastrointestinal system phenotype", + "ulna endochondral element", + "localised gonad", + "paired limb/fin", + "incomplete closing of the skeletal element", + "absent sperm", + "subdivision of skeleton", + "shape of forehead phenotype", + "endochondral bone", + "decreased number of anatomical entity", + "Abnormal forebrain morphology", + "Abnormal forearm morphology", + "vertebra", + "multicellular organism height phenotype", + "forelimb long bone", + "vertebral element", + "pelvic region element phenotype", + "viscus", + "reproductive organ phenotype", + "decreased size of the skeletal element", + "bone of free limb or fin", + "arch of centrum of vertebra phenotype", + "limb endochondral element", + "neural tube formation", + "neuron projection bundle", + "digestive system gland phenotype", + "increased length of the skin of eyelid", + "internal male genitalia phenotype", + "Abnormal appendicular skeleton morphology", + "paired limb/fin phenotype", + "Abnormal internal genitalia", + "localised testis", + "decreased qualitatively sensory perception of light stimulus", + "forelimb morphology phenotype", + "Myelodysplasia", + "Abnormal blood vessel morphology", + "parasympathetic ganglion", + "formed ectoderm-derived structure", + "decreased size of the arm bone", + "cardiovascular system phenotype", + "anatomical cluster phenotype", + "blood", "Abnormal morphology of female internal genitalia", "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", + "Functional abnormality of male internal genitalia", + "acropodium region", + "coronary vessel", + "cranial nerve physiology phenotype", + "ventricle of nervous system", + "paralysed anatomical entity", + "multi-limb segment region", + "blood vessel", + "compound organ", + "eye", + "venous system", + "outflow tract", + "germ cell", + "Abnormal long bone morphology", + "vasculature", + "upper urinary tract phenotype", + "Abnormal jaw morphology", + "Meckel diverticulum", + "irregular bone", + "organism", + "secondary palate", + "male reproductive organ morphology phenotype", + "skeleton of digitopodium", + "myeloid cell homeostasis", + "glans penis", + "synovial joint of pelvic girdle morphology phenotype", + "Abnormal preputium morphology", + "penis morphology phenotype", + "immune system phenotype", + "digit phenotype", + "mouth phenotype", + "Abnormality of limbs", + "craniocervical region phenotype", + "cornea morphology phenotype", + "leg bone", + "Abnormal skin morphology", + "multi-tissue structure phenotype", + "opaque anatomical entity", + "decreased anatomical structure mass", + "forelimb zeugopod bone phenotype", + "pigmentation", + "developing anatomical structure", + "skeleton of limb", + "Abnormality of skin pigmentation", + "female reproductive system", + "dermal skeleton", + "phenotypic effect", + "aplasia or hypoplasia of iris", + "pigmentation phenotype", + "heart left ventricle morphology phenotype", + "individual digit of digitopodial skeleton", + "Umbilical hernia", + "Arteriovenous malformation", + "increased size of the multi-tissue structure", + "head bone morphology phenotype", + "Abnormal eye morphology", + "incomplete closing of the secondary palate", + "increased length of the material anatomical entity", + "subdivision of skeletal system phenotype", + "integument", + "Abnormal connection of the cardiac segments", + "leg phenotype", + "cardiac atrium", + "Abnormality of the integument", + "genitourinary system phenotype", + "Abnormality of the forehead", + "mouth morphology phenotype", + "multicellular organismal process", + "bone of pelvic complex", + "system process", + "sensory perception", + "number of anatomical enitites of type anatomical entity phenotype", + "Neurodevelopmental abnormality", + "nervous system physiology phenotype", "process", - "vestibulo-auditory system", - "anterior uvea", - "abnormality of camera-type eye physiology", - "organism subdivision", - "Dolichocephaly", - "common carotid artery plus branches", - "drooping eyelid", - "Abnormal cardiac ventricle morphology", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", + "Abnormal shape of the frontal region", + "central nervous system", + "Abnormality of limb bone", + "autopod endochondral element", + "shape anatomical entity", + "mandible phenotype", + "autonomic ganglion", + "axial skeletal system", + "brain", + "ventricular system of central nervous system", + "neural crest-derived structure, curved phenotype", + "number of anatomical enitites of type organ part phenotype", + "musculature phenotype", + "reproductive system physiology phenotype", + "myeloid cell differentiation", + "increased number of organ part", + "decreased biological_process in skin of body", + "alimentary part of gastrointestinal system morphology phenotype", + "eyeball of camera-type eye", + "decreased length of forelimb zeugopod bone", + "digit 1 plus metapodial segment", + "Abnormality of the anus", + "cerebrospinal fluid morphology phenotype", + "synovial joint", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "increased number of anatomical entity in the cerebrospinal fluid", + "facial bone", + "increased number of brain ventricle", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "size of heart right ventricle phenotype", + "Abnormality of the urinary system", + "incomplete closing of the neural crest-derived structure", + "Abnormal cerebrospinal fluid morphology", "external soft tissue zone", + "Abnormal mandible morphology", + "skeletal system phenotype", + "male gamete generation phenotype", "digit plus metapodial segment", "head", - "abnormal reproductive system", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "ileum", - "embryonic tissue", - "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "Syndactyly", - "abnormal head morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Sloping forehead", - "abnormal manual digit 5 morphology", - "non-connected functional system", - "digestive tract", - "subdivision of digestive tract", - "Abnormal pinna morphology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "abnormality of cranial nerve physiology", - "independent continuant", - "abnormal pigmentation", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "Abnormal ear morphology", + "internal genitalia phenotype", + "bone of appendage girdle complex phenotype", + "Abnormal esophagus morphology", + "increased number of anatomical structure in the cerebrospinal fluid", + "organism subdivision", + "multicellular organismal-level homeostasis", + "chordate embryonic development", + "anterior segment of eyeball", "Abnormal morphology of the great vessels", "pectoral complex", - "venous system", - "musculoskeletal movement", - "decreased qualitatively biological_process", - "anatomical entity", - "abnormal trachea morphology", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "behavior process", - "anterior chamber of eyeball", - "abnormal development of anatomical entity", - "increased biological_process", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "embryonic epithelial tube formation", - "respiratory airway", - "abnormal secondary palate morphology", - "subdivision of tube", - "Abnormal respiratory system morphology", - "Abnormal lens morphology", - "Multiple cafe-au-lait spots", - "system", - "transparent eye structure", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", + "Abnormality of the peripheral nervous system", + "trunk region element", "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", + "lateral structure", + "Orofacial cleft", + "digestive system element", + "Abnormal digestive system morphology", + "Tracheoesophageal fistula", + "spinal cord morphology phenotype", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "nervous system process", + "limb bone morphology phenotype", + "Aplasia/Hypoplasia affecting the eye", + "Abnormal gastrointestinal tract morphology", + "embryonic morphogenesis", + "phalanx of pes morphology phenotype", + "body proper", + "opening of the anatomical entity", + "cell phenotype", + "tracheobronchial tree morphology phenotype", + "subdivision of organism along main body axis phenotype", + "tunica fibrosa of eyeball", + "anatomical structure physiology phenotype", + "mesoderm-derived structure phenotype", + "appendage", + "Abnormal facial shape", + "location of anatomical entity phenotype", + "tube morphogenesis", + "camera-type eye morphology phenotype", "brain gray matter", "embryo development", "Abnormal tracheobronchial morphology", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormal postcranial axial skeleton morphology", - "multicellular organismal-level homeostasis", - "chordate embryonic development", - "anterior segment of eyeball", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal palpebral fissure", - "abnormal tube formation", - "thoracic segment of trunk", - "pes bone", - "abnormal bone of pelvic complex morphology", - "arm", + "eukaryotic cell", + "Abnormal brain morphology", + "size of brain ventricle phenotype", + "limb phenotype", + "Abnormal anterior eye segment morphology", + "organ subunit", + "absent sperm in the semen", + "increased number of material anatomical entity in the cerebrospinal fluid", + "connective tissue phenotype", + "increased biological_process", + "digestive tract", + "face morphology phenotype", + "Abnormal external genitalia", + "arm phenotype", + "digestive system phenotype", + "Abnormal respiratory system physiology", + "reproductive structure physiology phenotype", "Short stature", "Abnormality of the vertebral column", - "abnormal digestive system", - "flat longitudinal arch of pes", - "abnormal bone of pectoral complex morphology", - "orifice", - "craniocervical region", - "abnormal developmental process", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", - "Nystagmus", - "esophagus", + "reproductive organ physiology phenotype", + "anatomical structure formation involved in morphogenesis phenotype", + "male reproductive organ", + "sensory perception of mechanical stimulus phenotype", + "internal naris phenotype", + "disconnected anatomical group", + "cerebral cortex", + "tracheobronchial tree", + "decreased size of the forelimb bone", + "tube development", + "multicellular anatomical structure phenotype", + "Abnormal toe morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "Abnormality of the urethra", + "immaterial entity", + "Abnormal systemic arterial morphology", + "renal system", + "peripheral nervous system", + "Abnormal anterior chamber morphology", + "zeugopodial skeleton", + "head morphology phenotype", + "forelimb skeleton", + "immune system", + "endocrine system", + "sense organ physiology phenotype", + "ear physiology phenotype", + "uterus morphology phenotype", + "Abnormal neural tube morphology", + "Abnormal enteric ganglion morphology", + "excretory system", + "craniocervical region morphology phenotype", + "tube", + "increased number of ventricle of nervous system", + "male reproductive system", + "forelimb endochondral element", "physiologic nystagmus", "hemolymphoid system", - "Lower extremity joint dislocation", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "Hip dislocation", + "organ subunit phenotype", + "respiratory tract", + "amniotic fluid phenotype", + "respiratory tube", + "glans", + "erythrocyte", + "anatomical entity physiology phenotype", + "developmental process phenotype", + "limb endochondral element phenotype", + "blood vasculature", + "ectoderm-derived structure, asymmetrically curved phenotype", + "increased reflex", + "long bone", + "material entity", + "cardiovascular system", + "number of sperm phenotype", + "skin of body phenotype", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "decreased length of limb bone", + "structure with developmental contribution from neural crest", + "intromittent organ phenotype", + "Abnormal cerebral ventricle morphology", + "pelvic girdle bone/zone morphology phenotype", + "Neural tube defect", + "prepuce", + "decreased male gamete generation", + "organ system subdivision", + "Syndactyly", + "skeletal system morphology phenotype", + "increased number of ventricle of nervous system in the cerebrospinal fluid", + "Abnormal peripheral nerve morphology by anatomical site", + "independent continuant", + "anatomical line between pupils", + "reproductive system", + "thoracic cavity element", "skeleton", "multicellular organism", - "thoracic cavity element", - "Abnormal penis morphology", + "Abnormality of the orbital region", + "decreased size of the limb endochondral element", + "roof of mouth", + "neural tube development", + "external genitalia", + "camera-type eye", + "decreased number of myeloid cell", + "Abnormality of mental function", + "external male genitalia phenotype", + "increased number of organ component layer in the cerebrospinal fluid", + "forelimb zeugopod bone", + "head phenotype", + "vascular system morphology phenotype", + "Abnormal digit morphology", + "penis phenotype", + "structure with developmental contribution from neural crest physiology phenotype", + "bone of pectoral complex", + "decreased length of anatomical entity", + "anatomical entity mass phenotype", + "Decreased anatomical entity mass", + "entity", + "Abnormal form of the vertebral bodies", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "gray matter of telencephalon", + "urethral meatus", + "dorsal region element", + "Abnormality of the cardiovascular system", + "central nervous system gray matter layer", + "pedal digit bone", + "increased length of the non-material anatomical boundary", + "chamber of eyeball", + "Clinodactyly", + "palatine uvula", + "reproductive structure phenotype", + "quality", + "central nervous system cell part cluster phenotype", + "anatomical collection phenotype", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Abnormal leukocyte morphology", + "axial skeleton plus cranial skeleton", + "increased length of the skin of face", + "decreased size of the limb bone", + "central nervous system morphology phenotype", + "shape of external ear phenotype", + "anatomical conduit phenotype", + "skeleton of lower jaw", + "common carotid artery plus branches morphology phenotype", + "eyelid", + "endochondral bone phenotype", + "Abnormality of the ear", + "decreased qualitatively developmental process involved in reproduction", + "Abnormal male urethral meatus morphology", + "reproductive structure", + "epithelial tube", + "decreased height of the anatomical entity", + "decreased developmental process involved in reproduction", + "Abnormality of the eye", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "decreased anatomical structure development", + "anatomical structure phenotype", + "anatomical system", + "upper digestive tract", + "sense organ phenotype", + "multicellular anatomical structure morphology in the heart phenotype", + "Abnormality of reproductive system physiology", + "appendicular skeleton morphology phenotype", + "occurrent", + "pedal digit phalanx endochondral element", + "organ", + "pedal digit plus metapodial segment", + "Phenotypic abnormality", + "multicellular anatomical structure physiology phenotype", + "increased number of organ component layer", + "nervous system", + "anatomical projection phenotype", + "anatomical system physiology phenotype", + "Displacement of the urethral meatus", + "organ part physiology phenotype", + "skin of body morphology phenotype", + "voluntary musculoskeletal movement phenotype", + "brain ventricle phenotype", + "material anatomical entity", + "Abnormality of immune system physiology", + "localised anatomical entity", + "organ system subdivision phenotype", + "simple eye phenotype", + "homeostatic process phenotype", + "behavior", + "abdomen element", + "protruding eyeball of camera-type eye", + "embryonic epithelial tube formation", + "respiratory airway", + "subdivision of trunk", + "multicellular organismal movement", + "fused anatomical entity and anatomical entity", + "neural tube", + "male urethra", + "organ part", + "Decreased bone element mass density", + "material anatomical entity phenotype", + "Short palpebral fissure", + "umbilicus morphology phenotype", + "Abnormal skeletal morphology", + "increased pigmentation", + "Abnormality of the genital system", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "shape of continuant phenotype", + "deviation of digit towards the middle", + "lower urinary tract", + "Abnormality of globe location", + "jaw region", + "artery", + "telencephalon phenotype", + "curved anatomical entity", + "anatomical entity morphology phenotype", + "decreased length of long bone", + "subdivision of organism along appendicular axis", + "decreased length of endochondral element", + "Abnormal cell morphology", + "Abnormal palate morphology", + "articulation", + "cornea, curved phenotype", + "mesoderm-derived structure", + "autopod bone", + "system", + "anatomical structure, curved phenotype", + "brain morphology phenotype", + "subdivision of head", + "increased number of ectoderm-derived structure", + "musculoskeletal movement phenotype", + "anterior chamber of eyeball morphology phenotype", + "transparent eye structure", + "dentary", + "behavior process phenotype", + "femur endochondral element", + "organ component layer phenotype", + "subdivision of tube", + "Abnormality of the inner ear", + "vertebra morphology phenotype", + "Decreased fertility in males", + "taxon specific phenotype", + "anatomical structure", + "subdivision of oviduct", + "limb bone", + "subdivision of digestive tract phenotype", + "cerebral cortex morphology phenotype", + "urethra phenotype", + "Abnormality of the lower urinary tract", + "Hypogonadism", + "urethral opening", + "arm bone", + "skeleton of pectoral complex", + "specifically dependent continuant", + "decreased length of arm bone", + "increased size of the zone of skin", + "cornea phenotype", + "formed chamber of eyeball", + "Decreased head circumference", + "anatomical entity", + "localised material anatomical entity", + "ear phenotype", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "increased volume of anatomical entity", + "forelimb bone", + "Abnormal uvula morphology", + "endochondral element", + "anatomical entity hypoplasia", "Intellectual disability", - "abnormal ocular adnexa", "embryonic structure", + "endoderm-derived structure phenotype", "brain ventricle/choroid plexus", "proximo-distal subdivision of respiratory tract", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "organ subunit", - "Abnormal neural tube morphology", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of the testes", - "left cardiac chamber", - "Slanting of the palpebral fissure", - "Abnormal anterior eye segment morphology", + "Abnormal penis morphology", + "appendage phenotype", + "Hypoplastic facial bones", + "organism subdivision phenotype", + "arm", + "forelimb zeugopod skeleton", + "male reproductive organ phenotype", + "ocular surface region", + "thoracic segment of trunk", + "bone of jaw phenotype", + "number of anatomical enitites of type material anatomical entity phenotype", + "tetrapod frontal bone morphology phenotype", + "pes bone", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "Abnormality of the respiratory system", + "segment of autopod", + "ductus arteriosus morphology phenotype", + "increased pigmentation in skin of body", + "cranial neuron projection bundle phenotype", + "Abnormal male reproductive system physiology", + "reproductive organ", + "Abnormality of the digestive system", + "anatomical structure development", + "arterial blood vessel", + "decreased spermatogenesis", + "limb segment", + "external genitalia phenotype", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "size of palpebral fissure phenotype", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "Abnormal curvature of the vertebral column", + "multi cell part structure phenotype", + "ureter phenotype", + "hematopoietic system", + "multicellular anatomical structure", + "reproductive system phenotype", + "hindlimb endochondral element", + "ventricular system of brain", + "innominate bone morphology phenotype", + "eye phenotype", + "structure with developmental contribution from neural crest phenotype", + "Abnormal vertebral morphology", + "Abnormal male external genitalia morphology", + "localised reproductive organ", + "glandular system", + "myocardium", + "external ear", + "decreased length of bone of appendage girdle complex", + "bone of appendage girdle complex", + "anatomical wall", + "closing of the material anatomical entity", + "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid", + "sensory system", + "Scoliosis", + "multicellular anatomical structure, curved phenotype", + "Almond-shaped palpebral fissure", + "response to stimulus phenotype", + "Abdominal wall defect", + "material anatomical entity physiology phenotype", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "cerebrospinal fluid", + "main body axis", + "tissue development", + "venous blood vessel", + "camera-type eye phenotype", + "physiologic nystagmus phenotype", + "increased size of the immaterial anatomical entity", + "manus", + "chemosensory system", + "organ physiology phenotype", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "renal system phenotype", + "bone marrow cell", + "multicellular organism phenotype", + "upper limb segment", + "biological_process", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "camera-type eye physiology phenotype", + "blood vessel morphology phenotype", + "zone of skin morphology phenotype", + "ganglion", + "subdivision of head phenotype", + "Abnormality of the curvature of the cornea", + "cell", + "Abnormality of the mouth", + "Finger syndactyly", + "lower respiratory tract", + "visual system", + "uvea morphology phenotype", + "bone of craniocervical region phenotype", + "structure with developmental contribution from neural crest, curved phenotype", + "renal system physiology phenotype", + "multicellular organism morphology phenotype", + "anatomical structure, asymmetrically curved phenotype", + "Hypermelanotic macule", + "simple eye", + "Abnormality of the skeletal system", + "zone of organ phenotype", + "trachea", + "Deviation of finger", + "subdivision of digestive tract", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "number of anatomical enitites of type organ component layer phenotype", + "Abnormal lens morphology", + "simple eye physiology phenotype", + "Anal atresia", + "anatomical conduit", + "Abnormality of the head", + "Abnormal enteric nervous system morphology", + "future central nervous system", + "absent anatomical structure in the multicellular organism", + "craniofacial/craniocervical phenotype", + "fused pedal digit and pedal digit", + "ocular surface region morphology phenotype", + "decreased length of anatomical structure", "cornea", "abdominal wall", "3-D shape anatomical entity", + "external male genitalia", + "brain ventricle/choroid plexus morphology phenotype", + "orifice", "shape cornea", - "lower respiratory tract", - "visual system", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "Abnormality of the ear", - "eyelid", - "abnormally decreased number of leukocyte", + "multicellular organism development phenotype", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal vascular morphology", + "Abnormality of skull size", + "decreased length of bone of pectoral complex", + "ventricle of nervous system phenotype", + "increased number of anatomical structure", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormality of body height", + "decreased size of the mesoderm-derived structure", + "neural crest-derived structure, asymmetrically curved phenotype", + "non-material anatomical boundary", + "Abnormality of head or neck", + "cardiac chamber", + "eye physiology phenotype", + "lower urinary tract phenotype", + "non-connected functional system", + "increased number of anatomical entity", + "increased height of the neural crest-derived structure", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "anatomical system phenotype", + "incomplete closing of the abdominal wall", + "Clinodactyly of the 5th finger", + "sense organ", "orbital region", - "abnormal alimentary part of gastrointestinal system", - "Abnormal carotid artery morphology", - "Astigmatism", + "hypertrophic heart right ventricle", + "vasculature phenotype", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "anterior segment of eyeball morphology phenotype", + "face phenotype", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "curvature anatomical entity", + "increased number of material anatomical entity", + "skeletal system", + "hindlimb skeleton", + "protein-containing material entity", + "anatomical entity phenotype", + "gamete generation", + "organ part phenotype", + "male organism", + "fused pedal digit and anatomical entity", + "Irregular hyperpigmentation", + "lateral structure phenotype", "pelvic girdle region", "paired limb/fin segment", "multicellular organism development", "Ventriculomegaly", - "abnormal posterior nasal aperture morphology", - "curvature anatomical entity", - "abnormal camera-type eye morphology", - "abnormal orbital region", - "abnormal bony vertebral centrum morphology", - "simple eye", - "anus", - "Abnormal skull morphology", - "sensory perception", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Weight loss", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "growth", - "cardiac valve", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Decreased body weight", - "autopodial extension", - "abnormal forelimb zeugopod bone", - "valve", - "endochondral element", - "anatomical entity hypoplasia", - "abnormal cardiac ventricle morphology", - "motile cell", - "abnormal leg", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "internal ear", - "heart left ventricle", - "epithelium", - "autopodial skeleton", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "Opisthokonta", - "Abnormality of digestive system morphology", - "Abnormality of the ocular adnexa", + "urethra", + "thoracic segment organ", + "Astigmatism", + "Abnormal carotid artery morphology", + "anterior region of body", + "Abnormal reproductive system morphology", + "lateral structure physiology phenotype", + "synovial joint of pelvic girdle", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "upper leg bone", + "multicellular anatomical structure, asymmetrically curved phenotype", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "asymmetrically curved cornea", + "decreased qualitatively reproductive process", + "dermal skeletal element phenotype", + "neural crest-derived structure", + "incomplete closing of the interatrial septum", + "epithelial tube formation", + "digestive system element phenotype", + "brain ventricle morphology phenotype", + "Abnormal umbilicus morphology", + "increased number of organ part in the cerebrospinal fluid", + "Abnormal joint morphology", + "transudate", + "increased number of ectoderm-derived structure in the cerebrospinal fluid", + "multi cell part structure", + "vein", + "limb long bone morphology phenotype", + "bodily fluid", + "multi-tissue structure", + "facial skeleton morphology phenotype", + "limb long bone phenotype", + "All", + "Abnormal bone structure", + "naris phenotype", + "lens of camera-type eye morphology phenotype", + "nervous system phenotype", + "postcranial axial skeletal system", + "Clubbing of toes", + "arterial system", + "bone of pelvic complex morphology phenotype", + "kidney morphology phenotype", + "dorsum", + "nervous system development", + "tube formation phenotype", + "peripheral nervous system phenotype", + "tissue", + "cell differentiation", + "forelimb zeugopod bone morphology phenotype", + "brain ventricle", + "future nervous system", + "regional part of nervous system phenotype", + "Reduced bone mineral density", + "circulatory system", + "Spina bifida", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "appendicular skeleton", + "spinal cord", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "manual digit 1 phalanx", + "orifice phenotype", + "neocortex morphology phenotype", "gamete", "upper jaw region", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", + "palpebral fissure phenotype", "Upslanted palpebral fissure", "manual digit plus metapodial segment", "Abnormal bone ossification", - "Abnormal facial skeleton morphology", - "multi organ part structure", - "increased length of the anatomical line between pupils", - "Abnormal ocular adnexa morphology", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", "Abnormal eyelid morphology", + "palpebral fissure", "female reproductive organ", "ocular adnexa", - "palpebral fissure", - "abnormal lens of camera-type eye morphology", + "opaque lens of camera-type eye", + "blood cell phenotype", + "decreased number of leukocyte", + "lens of camera-type eye phenotype", + "Abnormality of the gastrointestinal tract", + "transparent eye structure phenotype", "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "opaque anatomical entity", - "clavate digit", - "shape eyelid", "Atrial septal defect", "drooping anatomical entity", + "eyelid phenotype", + "large intestine", "Ptosis", "Abnormal cornea morphology", "gland", - "myeloid cell homeostasis", - "glans penis", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", - "olfactory organ", + "clavate digit", + "decreased size of the anatomical structure", + "shape eyelid", + "decreased qualitatively sensory perception", + "incomplete closing of the multicellular anatomical structure", + "Hydrocephalus", + "telencephalon morphology phenotype", + "hindlimb morphology phenotype", + "anatomical projection", + "number of hematopoietic cell phenotype", + "Eumetazoa", + "phalanx morphology phenotype", + "Eukaryota", + "Metazoa", + "Abnormal hand morphology", + "forebrain morphology phenotype", + "root", + "aplasia or hypoplasia of telencephalon", + "Abnormality of the male genitalia", + "increased size of the organ part", + "cellular organisms", + "size of skull phenotype", + "increased length of the multicellular anatomical structure", + "Bicornuate uterus", + "regional part of brain phenotype", + "limb long bone", + "aplasia or hypoplasia of anatomical entity", + "systemic artery morphology phenotype", + "decreased biological_process", + "size of anatomical entity phenotype", + "female reproductive system morphology phenotype", + "telencephalon", "cranial skeletal system", "nose", + "decreased size of the endochondral element", "endocrine gland", - "sperm", - "internal naris", - "Neoplasm by anatomical site", - "olfactory system", - "Abnormality of the nervous system", - "pedal digit digitopodial skeleton", - "pelvic region of trunk", - "bony vertebral centrum", - "abnormal olfactory system morphology", - "abnormal nose", - "Abnormal male urethral meatus morphology", - "renal system", - "male urethra", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "abnormal urethra", - "excretory system", - "posterior nasal aperture atresia", - "Hypospadias", - "epicanthal fold", - "hindlimb long bone", - "abnormal lower urinary tract", - "segment of pes", - "voluntary movement behavior", - "Renal hypoplasia/aplasia", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", - "thoracic segment organ", - "urethra", - "gray matter of telencephalon", - "urethral meatus", - "Abnormality of prenatal development or birth", - "nervous system", - "abnormal face", - "Displacement of the urethral meatus", - "abnormal spermatogenesis", - "Abnormal shape of the palpebral fissure", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "root", - "regional part of nervous system", - "Abnormal midface morphology", - "Decreased head circumference", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "Abnormal pulmonary valve morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anterior chamber of eyeball morphology", - "telencephalon", - "Abnormal vascular morphology", - "Abnormality of skull size", - "Eukaryota", - "Deviation of the 5th finger", - "regional part of brain", - "Visual impairment", - "ulna", - "abdomen", - "deviation of manual digit towards the middle", - "Eumetazoa", "tube closure", + "ocular adnexa phenotype", "Aplasia/Hypoplasia of the cerebrum", + "autonomic nervous system phenotype", "Abnormality of the abdominal organs", + "vertebral column morphology phenotype", "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", - "abnormality of renal system physiology", - "abnormal esophagus morphology", - "abnormal size of anatomical entity", - "digit 1 plus metapodial segment", - "synovial joint", - "Abnormality of the anus", - "abnormal immune system", - "pedal digitopodium region", - "abnormally decreased number of cell", - "Functional abnormality of the inner ear", - "pedal digit", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "axial skeleton plus cranial skeleton", - "Abnormal leukocyte morphology", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "Leukopenia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal kidney", - "abnormal number of anatomical enitites of type leukocyte", - "abnormally decreased number of leukocyte in the blood", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "haemolymphatic fluid", - "abnormal hematopoietic system", - "delayed growth", - "abnormal immune system morphology", - "Hematological neoplasm", - "Reduced bone mineral density", - "Myelodysplasia", - "Abnormality of vision", - "Non-obstructive azoospermia", - "increased size of the anatomical entity in independent continuant", - "central nervous system gray matter layer", - "chamber of eyeball", - "pedal digit bone", - "cardiac atrium", - "Abnormality of the integument", - "abnormal size of brain ventricle", + "Deviation of the 5th finger", + "regional part of brain", + "regional part of nervous system", + "interventricular septum", + "increased length of the anatomical line", + "ganglion of peripheral nervous system morphology phenotype", + "Abnormal midface morphology", + "Abnormal skull morphology", + "skull morphology phenotype", + "oral cavity", + "Abnormality of the ocular adnexa", + "Opisthokonta", + "testis", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Abnormality of the testis size", + "gonad", + "palatine uvula morphology phenotype", + "Decreased anatomical entity mass density", + "embryo", + "Absent testis", + "integument phenotype", + "vision/eye phenotype", + "secondary palate morphology phenotype", + "decreased length of forelimb bone", + "long bone phenotype", + "Abnormality of the outer ear", + "number of myeloid cell phenotype", + "absent germ cell", + "ear morphology phenotype", + "bone element phenotype", + "male reproductive system phenotype", + "vestibulo-auditory system", + "anterior uvea", + "Abnormality of blood and blood-forming tissues", + "external ear phenotype", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "increased size of the non-material anatomical boundary", + "incomplete closing of the organ", + "Abnormal pinna morphology", + "Abnormal ear morphology", + "ear", + "artery morphology phenotype", + "developmental process involved in reproduction phenotype", + "male reproductive organ physiology phenotype", + "internal male genitalia", + "anatomical entity morphology in the brain phenotype", + "incomplete closing of the ectoderm-derived structure", + "eyeball of camera-type eye phenotype", + "increased size of the anatomical structure", + "multi organ part structure phenotype", + "increased size of the ventricle of nervous system", + "epicanthal fold", + "hindlimb long bone", + "decreased length of multicellular anatomical structure", + "abdomen element phenotype", + "increased size of the organ component layer", + "Abnormal nasal morphology", + "internal male genitalia physiology phenotype", + "duodenum morphology phenotype", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "paralysed cranial nerve", + "increased size of the ectoderm-derived structure", + "abdomen element physiology phenotype", + "increased length of the zone of organ", + "absent anatomical structure", + "trunk", + "manual digit 5 plus metapodial segment", + "female reproductive system phenotype", "zone of organ", + "skull phenotype", "increased size of the brain ventricle", - "liver", - "abnormal endocrine system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", + "increased size of the multicellular anatomical structure", + "visual perception phenotype", + "craniocervical region", + "endocrine system phenotype", + "structure with developmental contribution from neural crest, asymmetrically curved phenotype", + "digestive system morphology phenotype", + "exocrine gland phenotype", "Decreased fertility", - "Abnormality of the endocrine system", - "forelimb", - "skeleton of pelvic complex", + "Abnormality of the genitourinary system", + "exocrine system", + "decreased length of forelimb endochondral element", + "intromittent organ", + "respiratory system morphology phenotype", + "gland phenotype", + "Abnormality of the liver", + "fused anatomical entity and manual digit", + "incomplete closing of the roof of mouth", + "liver", + "abdominal segment element phenotype", "abdominal segment of trunk", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "trunk region element phenotype", "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "Abnormality of the liver", - "behavior", - "abdomen element", - "glandular system", - "abnormal hypothalamus-pituitary axis", - "non-material anatomical boundary", - "abnormally fused pedal digit and anatomical entity", - "abnormal location of anatomical entity", - "Renal insufficiency", - "late embryo", - "Cardiomyopathy", - "flat bone", - "increased anatomical entity length in independent continuant", + "gonad phenotype", + "internal ear phenotype", + "liver phenotype", + "decreased functionality of the mesoderm-derived structure", + "gamete generation phenotype", + "subdivision of skeletal system", + "hepatobiliary system", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "behavior process", + "cardiovascular system morphology phenotype", + "anterior chamber of eyeball", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "material anatomical entity, curved phenotype", + "endocrine gland phenotype", + "increased size of the right cardiac chamber", + "hypothalamus-pituitary axis phenotype", + "posterior nasal aperture phenotype", + "hypothalamus-pituitary axis", + "Abnormal reflex", + "hindlimb joint", + "anatomical line phenotype", + "penis", + "increased size of the anatomical line", + "tube phenotype", "Hypertelorism", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", - "immaterial anatomical entity", - "abnormal anatomical entity, curved", + "increased length of the anatomical entity", "anatomical line", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "Oligohydramnios", - "amniotic fluid", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "duodenum", + "immaterial anatomical entity phenotype", + "non-material anatomical boundary phenotype", + "increased length of the immaterial anatomical entity", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "intestine", + "ectoderm-derived structure phenotype", + "immaterial anatomical entity", + "anatomical entity length phenotype", + "decreased qualitatively multicellular organism development", + "digit", + "location of eyeball of camera-type eye phenotype", + "decreased size of the sense organ", + "vessel", + "spermatogenesis phenotype", + "anatomical entity atresia", + "Abnormal spermatogenesis", + "absent material anatomical entity in the multicellular organism", + "morphogenesis of embryonic epithelium", + "haploid cell", + "germ line cell", + "Cafe-au-lait spot", + "gamete phenotype", + "absent material anatomical entity", + "spermatogenesis", + "internal naris", + "sperm", + "erythroid lineage cell morphology phenotype", + "limb segment phenotype", + "number of cell phenotype", + "decreased qualitatively developmental process", + "reproductive process phenotype", + "male gamete", + "prepuce of penis morphology phenotype", + "absent gamete", + "decreased sensory perception of mechanical stimulus", + "iris", + "integumental system", + "semen", + "Aplasia/Hypoplasia affecting the uvea", + "decreased gamete generation", + "absent anatomical entity in the semen", + "subdivision of skeleton phenotype", + "male reproductive system physiology phenotype", + "conceptus", + "decreased multicellular organismal reproductive process", + "Abnormal cellular phenotype", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "internal genitalia", + "skeleton of pes", + "pes morphology phenotype", + "organ part morphology in the heart phenotype", + "reproduction", + "closing of the anatomical conduit", + "developmental process rate phenotype", + "epithelium", + "autopodial skeleton", + "outflow tract of ventricle", + "increased size of the brain ventricle/choroid plexus", + "Abnormality of the skin", + "biological_process rate phenotype", + "Abnormality of the palpebral fissures", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "oxygen accumulating cell", + "manual digit phenotype", + "multicellular organismal reproductive process phenotype", + "Abnormality of the nose", + "developmental process involved in reproduction", + "sexual reproduction", + "male gamete generation", + "fused anatomical entity and digit", + "hematopoietic system phenotype", + "small intestine morphology phenotype", + "small intestine", "cavitated compound organ", "Abnormal duodenum morphology", - "abnormal hindlimb morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "small intestine phenotype", + "Abnormal foot morphology", + "Duodenal stenosis", + "testis phenotype", + "Abnormality of movement", + "intestine morphology phenotype", + "subdivision of tube phenotype", + "increased length of the skin of head", + "Azoospermia", + "Abnormal small intestine morphology", "clavate anatomical entity", "Hydroureter", + "membrane bone phenotype", "Abnormal uterus morphology", + "myocardium phenotype", "Abnormal oral morphology", - "shape forehead", - "posterior region of body", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal digit", - "skeleton of pedal digitopodium", - "skeleton of pedal acropodium", - "vertebral centrum element", - "pelvic appendage skeleton", - "hindlimb endochondral element", - "skeleton of pes", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", - "Duodenal stenosis", - "Abnormal foot morphology", - "Hypermelanotic macule", + "Choanal atresia", + "acropodial skeleton", + "autopod region morphology phenotype", + "continuant", + "hindlimb", + "Functional abnormality of the inner ear", + "pedal digit", "leg", - "abnormally decreased number of anatomical entity in the blood", + "neoplasm phenotype", "phalanx of pes", - "abnormal long bone morphology", + "cardiac valve morphology phenotype", + "orifice atresia", "digitopodium bone", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal iris morphology", "phalanx", - "abnormal phalanx of pes morphology", - "3-D shape anatomical entity in independent continuant", - "abnormal digit morphology", - "Choanal atresia", - "acropodial skeleton", - "digit", - "abnormal phalanx morphology", - "pes", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "Abnormal digit morphology", - "phalanx endochondral element", - "abnormal autopod region morphology", "Abnormality of the lower limb", - "individual digit of digitopodial skeleton", + "jaw skeleton", + "exocrine gland", + "hindlimb bone", + "phalanx endochondral element", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "pes", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "localised reproductive structure", "digitopodium region", - "genitourinary system", - "Limb undergrowth", - "abnormal kidney morphology", - "skull", - "femur", + "fused manual digit and manual digit", + "pedal digitopodium region", + "material anatomical entity, asymmetrically curved phenotype", + "lower limb segment", + "increased length of the anatomical structure", + "pedal digitopodium bone", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "digit morphology phenotype", + "pelvic complex", + "duodenum", + "formed organ subunit", + "long bone morphology phenotype", + "incomplete closing of the mesoderm-derived structure", + "decreased size of the forelimb zeugopod bone", + "joint of girdle morphology phenotype", + "Proptosis", + "hindlimb stylopod", + "lower limb segment phenotype", + "pelvic girdle skeleton", + "pedal digit morphology phenotype", + "posterior region of body", + "Abnormal lower limb bone morphology", + "incomplete closing of the arch of centrum of vertebra", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "radius endochondral element", + "skin of face morphology phenotype", + "Abnormal renal morphology", + "subdivision of organism along appendicular axis phenotype", + "Abnormal cardiovascular system morphology", + "Abnormal ocular adnexa morphology", + "cavitated compound organ phenotype", + "Abnormal localization of kidney", "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", + "Abnormal anus morphology", + "compound organ phenotype", + "decreased functionality of the reproductive organ", + "Abnormality of the female genitalia", + "cardiac ventricle morphology phenotype", + "renal system morphology phenotype", + "male reproductive system morphology phenotype", + "orbital region phenotype", "Abnormality of the kidney", - "Decreased fertility in males", - "prominent anatomical entity", - "abnormal roof of mouth morphology", - "anatomical projection", - "abnormal midface morphology", + "neural tube closure phenotype", + "kidney", "mouth", "Aplasia/Hypoplasia of the iris", + "midface morphology phenotype", + "oral cavity morphology phenotype", + "morphological feature phenotype", + "myocardium morphology phenotype", + "incomplete closing of the anatomical structure", "Abnormal oral cavity morphology", + "roof of mouth morphology phenotype", + "anatomical cavity", "Abnormal aortic valve morphology", + "increased number of multicellular anatomical structure in the cerebrospinal fluid", "midface", - "abnormal soft palate morphology", - "palatine uvula", "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", "soft palate", - "abnormal oral cavity morphology", - "abnormal mouth", + "soft palate morphology phenotype", + "Abnormal soft palate morphology", "primary circulatory organ", + "ectoderm-derived structure, curved phenotype", "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", - "Abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "anatomical cavity", - "absent sperm", - "abnormally formed anatomical entity", - "nervous system cell part layer", - "abnormal pes morphology", - "aplasia or hypoplasia of uvea", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal anterior uvea morphology", - "abnormal artery morphology in the independent continuant", - "abnormal penis morphology", - "abnormal cranium morphology", - "Abnormality iris morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "Abnormal uvea morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", "malformed anatomical entity", - "circulatory organ", - "uvea", + "subdivision of organism along main body axis", + "formed anterior chamber of eyeball", "Abnormal hip joint morphology", "aplasia or hypoplasia of eyeball of camera-type eye", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", + "fused digit and digit", + "decreased length of organ", + "formed multicellular anatomical structure", + "iris phenotype", + "decreased qualitatively multicellular organismal reproductive process", + "formed anatomical structure", + "formed material anatomical entity", + "decreased length of mesoderm-derived structure", + "systemic arterial system", + "Abnormal cerebral morphology", + "palatine uvula phenotype", + "Joint dislocation", + "Abnormal uvea morphology", + "Abnormality iris morphology", + "circulatory organ", + "uvea", + "anatomical collection", + "Macule", "increased biological_process in skin of body", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "integument", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", - "abnormal cardiac valve morphology", + "posterior nasal aperture atresia", + "cerebral hemisphere morphology phenotype", + "Hypospadias", + "fused manual digit and anatomical entity", + "decreased size of the multicellular anatomical structure", + "musculature", "Localized skin lesion", "Abnormal 5th finger morphology", "Abnormal thumb morphology", "aplasia or hypoplasia of ulna", - "increased pigmentation in independent continuant", - "manual digit bone", - "abnormal biological_process in independent continuant", - "non-functional kidney", - "decreased size of the anatomical entity", - "Abnormal cerebral cortex morphology", - "forebrain", - "increased qualitatively biological_process", - "abnormal cell morphology", - "anatomical collection", - "Macule", - "abnormal cornea, curved", - "pigmentation", - "eyeball of camera-type eye", - "abnormal upper urinary tract", - "abnormal skin of body", - "Abnormality of skin morphology", - "abnormality of kidney physiology", - "changed biological_process rate in independent continuant", - "abnormal asymmetry of face", - "abnormal integument", - "abnormal manus", - "abnormal manus morphology", - "Aplasia/hypoplasia involving bones of the hand", + "Abnormal size of the palpebral fissures", + "autopod region phenotype", + "Finger clinodactyly", + "anatomical entity morphology in the manus phenotype", + "manual digit", + "skeleton phenotype", + "manus morphology phenotype", + "number of anatomical enitites of type anatomical structure phenotype", "skeleton of manus", - "Aplasia/Hypoplasia of fingers", - "abnormal cardiac valve morphology in the heart", + "segment of manus", + "vascular system", + "aplasia or hypoplasia of skeleton", "Abnormality of the hand", + "bone of hip region", + "external ear morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "Aplasia/hypoplasia involving bones of the hand", + "amniotic fluid", + "anatomical entity morphology in the pectoral complex phenotype", + "neural crest-derived structure phenotype", + "manual digit morphology in the manus phenotype", "decreased pigmentation in skin of body", + "incomplete closing of the anatomical conduit", "Abnormal finger morphology", - "vascular system", - "abnormal anterior segment of eyeball morphology", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", "Aplasia/hypoplasia involving the skeleton", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", - "male reproductive system", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "appendage", - "abnormally fused digit and digit", - "Clinodactyly of the 5th finger", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", + "fused digit and anatomical entity", + "anatomical entity mass density phenotype", + "pelvic girdle bone/zone", + "eye movement phenotype", + "respiratory system phenotype", + "Abnormality of bone mineral density", + "brain ventricle/choroid plexus phenotype", + "bone element mass density phenotype", "biogenic amine secreting cell", "ossification", - "Abnormality of bone mineral density", - "cardiac chamber", - "abnormal spatial pattern of anatomical entity", - "abnormal late embryo", - "Deviation of the hand or of fingers of the hand", "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of digit towards the middle", + "digit 1 or 5", + "cranial nerve related reflex", + "manual digit 5 morphology phenotype", + "manual digit 5", + "spatial pattern of anatomical entity phenotype", + "digit 1 or 5 phenotype", + "digit 5 plus metapodial segment", + "digestive system", + "decreased length of endochondral bone", + "Deviation of the hand or of fingers of the hand", "appendicular skeletal system", - "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", "deviation of manual digit", - "trunk", - "manual digit 5 plus metapodial segment", - "digit 1 or 5", - "manual digit 5", - "hypertrophic multicellular anatomical structure", - "dermal skeletal element", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin skeleton", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", + "decreased functionality of the organ part", + "upper limb segment phenotype", + "decreased length of bone element", + "ulna phenotype", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "organ phenotype", + "Forearm undergrowth", + "genitourinary system", + "Limb undergrowth", + "decreased size of the forelimb endochondral element", + "cardiac ventricle morphology in the heart phenotype", + "decreased size of the anatomical entity", "Upper limb undergrowth", + "decreased length of material anatomical entity", + "decreased length of skeletal element", + "decreased size of the long bone", + "decreased size of the material anatomical entity", + "decreased size of the endochondral bone", + "Hematological neoplasm", + "decreased size of the organ", + "ulna hypoplasia", + "head bone phenotype", + "decreased size of the bone of pectoral complex", + "Short long bone", + "decreased length of bone of free limb or fin", + "decreased size of the bone of free limb or fin", + "increased response to external stimulus", "forelimb zeugopod bone hypoplasia", - "abnormal incomplete closing of the interatrial septum", - "intestine", - "Decreased multicellular organism mass", - "Aplasia/Hypoplasia of the ulna", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", + "forelimb long bone phenotype", + "paired limb/fin skeleton", + "respiratory system physiology phenotype", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "decreased size of the bone element", "Short forearm", + "decreased length of limb endochondral element", + "decreased size of the anatomical entity in the pectoral complex", + "decreased size of the bone of appendage girdle complex", + "increased length of the zone of skin", "Aplasia/hypoplasia involving forearm bones", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "increased height of the secondary palate", - "Tetralogy of Fallot", - "Forearm undergrowth", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", + "Cardiomyopathy", + "flat bone", + "pelvic region element", + "Hyperpigmentation of the skin", + "limb joint", + "anatomical conduit atresia", + "joint of girdle", + "manus phenotype", + "hindlimb joint phenotype", + "zone of bone organ", + "skeletal joint", + "articulation phenotype", "Micrognathia", "anatomical entity dislocation", - "Abnormal localization of kidney", - "abnormal skeletal joint morphology", - "articulation", - "cerebral hemisphere gray matter", - "skin of body", - "abnormal pelvic girdle bone/zone morphology", "skeletal joint dislocation", - "peripheral nervous system", - "abnormal hip joint morphology", - "articular system", - "abnormal embryonic tissue morphology", - "zone of bone organ", - "Abnormal hip bone morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", - "stylopod", - "upper leg bone", - "abnormal femur morphology", - "abnormal hindlimb stylopod morphology", - "dentary", - "femur endochondral element", - "Abnormality of femur morphology", - "Abnormality of enteric ganglion morphology", - "abnormal intestine morphology", - "abnormal face morphology", - "axial skeletal system", - "autonomic ganglion", - "enteric ganglion", - "parasympathetic ganglion", - "enteric nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "autonomic nervous system", - "Unusual infection", - "abnormal enteric ganglion morphology", - "neurocranium bone", - "parasympathetic nervous system", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal autonomic nervous system morphology", ], "has_phenotype_count": 106, "highlight": None, "score": None, }, { - "id": "MONDO:0013499", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", + "name": "Fanconi anemia complementation group O", "full_name": None, "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCP", - "Fanconi Anemia, complementation group type P", - "Fanconi anaemia caused by mutation in SLX4", - "Fanconi anaemia caused by mutation in Slx4", - "Fanconi anaemia complementation group type P", - "Fanconi anemia caused by mutation in SLX4", - "Fanconi anemia caused by mutation in Slx4", - "Fanconi anemia complementation group type P", - "Fanconi anemia, complementation group P", - "SLX4 Fanconi anaemia", - "SLX4 Fanconi anemia", - "Slx4 Fanconi anaemia", - "Slx4 Fanconi anemia", + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0002984", "HP:0009777", - "HP:0000957", - "HP:0000252", - "HP:0001510", - "HP:0000581", - "HP:0001876", - "HP:0000347", + "HP:0040012", + "HP:0001245", + "HP:0003774", + "HP:0002984", + "HP:0000126", + "HP:0000028", "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", + "HP:0009623", + "HP:0001627", + "HP:0000107", + "HP:0003241", "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0002860", - "HP:0001045", + "HP:0002023", + "HP:0025023", ], "has_phenotype_label": [ - "Hypoplasia of the radius", "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Growth delay", - "Blepharophimosis", - "Pancytopenia", - "Micrognathia", + "Chromosome breakage", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Hypoplasia of the radius", + "Hydronephrosis", + "Cryptorchidism", "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", + "Proximal placement of thumb", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Squamous cell carcinoma", - "Vitiligo", + "Anal atresia", + "Rectal atresia", ], "has_phenotype_closure": [ - "HP:0002860", - "HP:0008069", - "HP:0000086", - "UBERON:0005156", - "GO:0032504", - "HP:0012243", - "UPHENO:0050101", - "UPHENO:0078452", - "UBERON:0003101", - "UPHENO:0049701", - "UBERON:0004054", - "UBERON:0000473", - "UPHENO:0085873", - "UPHENO:0049367", - "UPHENO:0086198", - "GO:0022414", - "UBERON:0004176", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "HP:0000035", - "HP:0000078", - "UPHENO:0002371", - "UPHENO:0086201", - "UPHENO:0003055", - "HP:0000811", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0005016", - "UBERON:0000463", - "UPHENO:0078729", - "HP:0008669", - "CL:0000408", - "UPHENO:0085194", - "UPHENO:0049940", - "UPHENO:0052778", - "HP:0000032", - "UBERON:0001968", - "GO:0000003", - "UPHENO:0087802", - "GO:0019953", - "GO:0003006", - "GO:0048609", - "UPHENO:0002378", - "UPHENO:0049985", - "GO:0007283", - "GO:0007276", - "UPHENO:0049970", - "UPHENO:0002598", - "CL:0000586", - "GO:0048232", - "UPHENO:0087547", - "UPHENO:0052178", - "UPHENO:0050625", - "HP:0012874", - "UPHENO:0002332", - "HP:0000028", - "UPHENO:0052231", - "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", - "UBERON:0002105", - "UPHENO:0005433", - "UPHENO:0081424", - "UPHENO:0080351", - "UPHENO:0081423", - "UPHENO:0075159", - "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", + "UBERON:0013522", + "UPHENO:0063629", + "UPHENO:0002994", + "UBERON:0013765", + "UPHENO:0074310", + "UPHENO:0076735", + "HP:0002589", + "UPHENO:0074311", + "UPHENO:0076783", + "NCBITaxon:33154", + "HP:0025023", + "UBERON:0001353", + "NCBITaxon:131567", + "UPHENO:0002714", + "HP:0002242", + "UPHENO:0063615", + "HP:0012732", + "UPHENO:0076773", + "UBERON:0000059", + "HP:0002034", + "UBERON:0000481", + "NCBITaxon:1", + "HP:0012718", + "UPHENO:0063563", + "UBERON:0000160", + "UBERON:0006866", + "UBERON:0001052", + "HP:0011100", + "UPHENO:0002725", + "UPHENO:0063577", + "HP:0004378", + "UPHENO:0002548", + "UPHENO:0074227", + "HP:0034915", + "UBERON:0000025", + "UPHENO:0076803", + "UPHENO:0063594", + "UPHENO:0063565", + "UPHENO:0002839", + "HP:0025033", + "UPHENO:0002833", + "UPHENO:0074230", + "UPHENO:0074245", + "UBERON:0001555", + "UPHENO:0063562", + "UPHENO:0074237", + "UPHENO:0000543", + "HP:0001507", + "HP:0003011", + "UBERON:0001630", + "HP:0033127", + "UPHENO:0086635", + "HP:0011425", + "UBERON:0008837", + "HP:0002250", + "UBERON:0034929", + "UPHENO:0002655", + "HP:0040070", + "UPHENO:0050784", + "GO:0008150", + "UPHENO:0081424", + "UPHENO:0003049", "GO:0010558", - "GO:0006325", - "UPHENO:0049700", - "GO:0031049", - "GO:0010556", + "HP:0009821", + "UPHENO:0004518", + "UPHENO:0049642", + "UPHENO:0046472", + "GO:0009889", + "HP:0030680", + "NCBITaxon:33208", + "HP:0011017", + "UPHENO:0002976", + "UPHENO:0050025", + "CL:0000000", "GO:0009890", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", + "UPHENO:0002750", + "UPHENO:0081466", + "UBERON:0000467", + "UBERON:0004765", + "GO:0010629", + "HP:0001626", "GO:0008152", - "HP:0000365", - "GO:0009987", - "GO:0050789", - "GO:0044238", - "HP:0031704", - "GO:0006807", - "UPHENO:0085875", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0046483", - "GO:0032501", - "UBERON:0013701", - "UBERON:0000073", - "GO:0034641", - 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"UBERON:0012360", - "HP:0009118", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0000277", - "UPHENO:0046411", - "HP:0002664", - "UPHENO:0053644", - "UBERON:0007842", - "UPHENO:0087924", - "UBERON:0007914", - "HP:0011821", - "UBERON:0004088", - "UBERON:0000025", - "UPHENO:0081786", - "UBERON:0003457", - "GO:0050877", - "HP:0011927", + "UPHENO:0002594", + "UPHENO:0046465", + "UPHENO:0069047", + "UPHENO:0068838", + "UBERON:0003606", + "UPHENO:0076718", + "UPHENO:0081313", + "UPHENO:0069064", + "UPHENO:0049757", + "UPHENO:0069125", + "HP:0009623", + "UBERON:0001015", + "UPHENO:0069062", + "UBERON:0010912", + "UPHENO:0046479", + "HP:0040072", + "UPHENO:0075944", + "HP:0004097", + "UPHENO:0046540", + "UBERON:0000477", + "UBERON:0010703", + "HP:0009826", + "UPHENO:0068912", + "UBERON:0000468", + "UBERON:0002389", + "UPHENO:0087349", + "UPHENO:0046538", + "UPHENO:0046445", + "UBERON:0004122", + "UPHENO:0002595", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0063599", + "UPHENO:0046392", + "UPHENO:0074229", + "UPHENO:0002637", + "UPHENO:0002523", + "UPHENO:0053644", + "UPHENO:0046397", + "HP:0010946", + "UPHENO:0069327", + "UPHENO:0046707", + "UPHENO:0046403", + "HP:0006501", + "UPHENO:0075195", + "UPHENO:0002786", + "UPHENO:0076754", + "UPHENO:0069194", + "HP:0009824", + "UPHENO:0001002", + "UPHENO:0012308", + "GO:0040007", + "UPHENO:0069163", + "HP:0002813", + "HP:0002818", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0001147", + "UBERON:0034923", + "UBERON:0000064", + "UBERON:0000323", + "UPHENO:0002949", + "UBERON:0005181", + "UPHENO:0002649", + "UPHENO:0002531", + "UPHENO:0069328", + "HP:0000126", + "UPHENO:0076779", + "HP:0001197", + "UBERON:0001224", + "UPHENO:0084132", + "UPHENO:0001134", + "UBERON:0008785", + "UPHENO:0002668", + "UPHENO:3000001", + "MPATH:1000", + "UPHENO:0087427", + "HP:0034242", + "UBERON:0000922", + "UBERON:0010538", + "UPHENO:0001478", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0004053", + "UBERON:0000473", + "UPHENO:0053563", + "UPHENO:0002597", + "UPHENO:0003055", + "UPHENO:0002682", + "UPHENO:0002685", + "UPHENO:0053566", + "UPHENO:0069266", + "UPHENO:0069674", + "HP:0000118", + "UPHENO:0002940", + "UBERON:0000079", + "UPHENO:0049620", + "UBERON:0000990", + "UPHENO:0063575", + "UBERON:0004176", + "UPHENO:0053561", + "HP:0012243", + "UBERON:0005156", + "HP:0000032", "UPHENO:0011498", "UBERON:0004381", "UPHENO:0046624", "HP:0009381", - "UBERON:0000466", - "UPHENO:0076805", - "UPHENO:0088168", - "UBERON:0002470", - "UBERON:0007827", - "OBI:0100026", - "UPHENO:0001072", - "UPHENO:0087907", - "UBERON:0034929", - "GO:0008150", - "UBERON:0006983", - "UBERON:0002268", - "GO:0031326", - "UPHENO:0065599", - "UPHENO:0084727", - "UPHENO:0087430", - "UPHENO:0084715", - "CL:0000300", - "HP:0012130", - "UPHENO:0041629", - "UBERON:0011143", - "UBERON:0005177", - "UBERON:0001008", - "UPHENO:0087427", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0041226", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0005173", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "UBERON:8450002", - "HP:0000085", - "UBERON:0001463", - "UBERON:0008962", - "UBERON:0008907", - "HP:0012210", - "GO:0006996", - "HP:0000079", - "GO:0048523", - "GO:0009889", - "HP:0003220", - "UPHENO:0050113", + "HP:0011927", + "UBERON:0012141", + "UPHENO:0046740", + "UBERON:0000991", + "UPHENO:0046750", + "UPHENO:0046426", + "UPHENO:0046741", + "UPHENO:0069236", + "UPHENO:0046411", + "UPHENO:0080369", + "UBERON:0014793", + "UPHENO:3000004", + "HP:0009603", + "UPHENO:0003093", + "HP:0009484", + "UPHENO:0084829", + "UPHENO:0005016", + "UBERON:0007100", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0004288", + "UPHENO:0002830", + "UPHENO:0046405", + "UBERON:0015228", + "UBERON:0015410", + "UPHENO:0050065", + "UBERON:0000915", + "UPHENO:0075949", + "MPATH:0", + "MPATH:603", + "UPHENO:0049874", + "GO:0010468", + "UPHENO:0012440", + "UPHENO:0000541", + "UPHENO:0080351", ], "has_phenotype_closure_label": [ - "Neoplasm of the skin", - "Pelvic kidney", - "Ectopic kidney", - "Abnormal reproductive system morphology", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "absent germ cell", - "external male genitalia", - "testis", - "Azoospermia", - "male gamete generation", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male germ cell", - "male gamete", - "Abnormal testis morphology", - "semen", - "reproduction", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormal external genitalia", - "reproductive process", - "abnormally localised anatomical entity in independent continuant", - "abnormal internal genitalia", - "external genitalia", - "internal genitalia", - "gonad", - "haploid cell", - "reproductive system", - "organism substance", - "abnormal gamete", - "sperm", - "abnormal location of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "absent gamete", - "germ cell", - "gamete", - "reproductive structure", - "decreased qualitatively developmental process", - "abnormal reproductive system morphology", - "decreased spermatogenesis", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "spermatogenesis", - "decreased developmental process", - "abnormal testis morphology", - "Cryptorchidism", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormality of reproductive system physiology", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", - "ear", - "abnormal developmental process", - "sensory perception", - "system process", - "multicellular organismal process", - "abnormality of anatomical entity physiology", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", + "Opisthokonta", + "Anorectal anomaly", + "rectum morphology phenotype", + "Abnormal intestine morphology", + "Rectal atresia", + "closing of the organ part", + "intestine morphology phenotype", + "intestine atresia", + "anatomical system atresia", + "subdivision of digestive tract atresia", + "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype", + "rectum atresia", + "organism", + "digestive system element", + "internal anal region", + "cellular organisms", + "Abnormal gastrointestinal tract morphology", + "organ part atresia", + "intestine", + "terminal part of digestive tract", + "rectum", + "Eumetazoa", + "alimentary part of gastrointestinal system", + "alimentary part of gastrointestinal system atresia", + "anus", + "material anatomical entity atresia", + "closing of the anatomical structure", + "digestive system phenotype", + "digestive tract", + "closing of the anatomical conduit", + "anus morphology phenotype", + "Abnormality of the anus", + "Abnormal anus morphology", + "ectoderm-derived structure phenotype", + "orifice", + "anatomical entity atresia", + "anus phenotype", + "orifice phenotype", + "Abnormality of the gastrointestinal tract", + "Abnormal digestive system morphology", + "root", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "Abnormality of the digestive system", + "closing of the ectoderm-derived structure", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "abnormal size of multicellular organism", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "abnormal reproductive process", - "regulation of macromolecule metabolic process", - "regulation of biosynthetic process", + "multicellular organism height phenotype", + "palmar/plantar part of autopod", + "anal region", + "muscle structure", + "large intestine", + "material anatomical entity", + "Abnormal skeletal muscle morphology", + "arm phenotype", + "thoracic cavity element", + "pectoral appendage musculature", + "musculature of upper limb", "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", + "subdivision of tube phenotype", + "musculature of limb phenotype", + "independent continuant", + "subdivision of skeletal system", + "entity", + "forelimb zeugopod bone morphology phenotype", + "autopod region morphology phenotype", + "absent organism subdivision in the multicellular organism", "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "organism", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Decreased head circumference", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "visual system", - "Abnormal skull morphology", - "Abnormal cellular immune system morphology", - "Abnormal cerebral morphology", - "arm bone", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "forebrain", - "regional part of nervous system", - "Narrow palpebral fissure", - "renal system", - "multi-tissue structure", - "main body axis", - "abnormal kidney morphology", - "craniocervical region", - "root", + "metabolic process", + "regulation of cellular biosynthetic process", + "closing of the subdivision of digestive tract", + "negative regulation of biological process phenotype", + "Abnormal cellular phenotype", + "negative regulation of gene expression phenotype", + "segment of autopod", + "reproductive system", + "muscle organ", + "musculature of pectoral complex", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "cell phenotype", + "programmed DNA elimination by chromosome breakage", + "cell", + "Abnormality of the upper limb", + "skeletal element", + "regulation of macromolecule biosynthetic process phenotype", + "zeugopod", + "regulation of biosynthetic process phenotype", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "Abnormality of chromosome stability", + "negative regulation of macromolecule metabolic process phenotype", + "increased size of the renal pelvis", + "homeostatic process", + "appendage girdle complex", + "digit phenotype", + "musculature phenotype", + "Abnormal finger morphology", + "organ phenotype", + "decreased length of manual digit", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "dilated renal pelvis", + "negative regulation of biological process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "occurrent", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "endochondral bone phenotype", + "Metazoa", + "Abnormal hand morphology", + "external soft tissue zone", + "skeletal system phenotype", + "digit plus metapodial segment", "appendage", - "abnormal nervous system", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "pigmentation", - "abnormal integument", - "Abnormality of skin pigmentation", - "skeleton of limb", - "aplasia or hypoplasia of skull", - "neural crest-derived structure", - "increased qualitatively biological_process", - "anatomical collection", + "anatomical entity phenotype", + "decreased length of organ", + "localised testis", + "musculoskeletal system", + "Absent thumb", + "bone of free limb or fin", + "cavitated compound organ phenotype", + "aplastic anatomical entity", "All", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "increased qualitatively biological_process in independent continuant", - "absent sperm", - "limb segment", - "biological_process", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "manual digit morphology in the manus phenotype", + "forelimb zeugopod morphology phenotype", + "Upper limb undergrowth", + "skeleton of pectoral complex", + "paired limb/fin segment", + "absent multicellular anatomical structure", + "decreased length of endochondral bone", + "Eukaryota", + "negative regulation of cellular metabolic process", + "abdomen element", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "forelimb endochondral element", + "Phenotypic abnormality", + "negative regulation of gene expression", + "regulation of metabolic process phenotype", + "Abnormality of the urinary system physiology", + "bone element phenotype", + "pectoral complex", + "multi-limb segment region phenotype", + "regulation of macromolecule metabolic process", + "upper limb segment phenotype", + "endochondral element phenotype", + "manual digit 1 morphology phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "closing of the subdivision of tube", + "skeleton of limb", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "musculature of manus", + "anatomical entity morphology in the pectoral complex phenotype", + "absent anatomical structure in the forelimb", + "aplasia or hypoplasia of manual digit 1", + "bone of pectoral complex phenotype", + "absent anatomical structure", + "orifice atresia", + "appendicular skeleton", + "upper limb segment", + "external soft tissue zone phenotype", + "limb phenotype", + "paired limb/fin skeleton", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "subdivision of digestive tract phenotype", + "limb bone", + "embryo phenotype", "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "gamete generation", "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal immune system morphology", - "Abnormal myeloid cell morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", + "manual digit plus metapodial segment", + "Anal atresia", + "limb endochondral element", "agenesis of anatomical entity", - "telencephalon", - "digit", - "Hyperpigmentation of the skin", + "thenar eminence hypoplasia", "skeleton of manus", - "obsolete multicellular organism reproduction", - "cellular organisms", - "abnormal manus morphology", - "Absent thumb", - "abnormal autopod region morphology", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "Neoplasm", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "abnormal size of anatomical entity", - "abnormal phenotype by ontology source", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "abnormal cellular metabolic process", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", + "skeleton phenotype", + "palmar part of manus", + "Abnormal large intestine morphology", + "Aplasia/hypoplasia involving the skeleton", + "Abnormal limb bone morphology", "absent digit", - "phenotype", - "Abnormal cell morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "paired limb/fin", - "Hypoplasia of the radius", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", - "abnormal multicellular organismal reproductive process", + "arm", + "trunk region element physiology phenotype", + "male reproductive organ phenotype", + "autopodial extension phenotype", "manual digit", - "U-shaped anatomical entity", - "abnormal central nervous system morphology", - "abnormal reproductive system", - "abnormal kidney", - "Aplasia/Hypoplasia of the radius", - "subdivision of skeleton", - "endochondral bone", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "quality", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "anatomical system", - "lateral structure", - "abnormal limb bone morphology", - "entity", - "subdivision of skeletal system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "absent manual digit", - "decreased size of the mandible", - "organ system subdivision", - "decreased length of palpebral fissure", - "erythrocyte", - "abnormal blood cell", - "abnormal radius bone morphology", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "body proper", - "regulation of gene expression", - "pectoral appendage", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", + "Abnormal cardiovascular system morphology", + "continuant", + "absent material anatomical entity in the forelimb", + "late embryo phenotype", + "regulation of cellular process phenotype", + "forelimb zeugopod", + "Abnormal appendicular skeleton morphology", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "muscle organ morphology phenotype", + "autopod region phenotype", + "material anatomical entity phenotype", + "forelimb long bone phenotype", "skeletal system", - "motile cell", + "Hypoplasia of the radius", + "programmed DNA elimination by chromosome breakage phenotype", + "manus phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", "regulation of metabolic process", - "manual digit 1", "autopodial extension", - "abnormal face", - "zeugopod", - "skeletal element", - "abnormal anatomical entity morphology in the pectoral complex", - "upper limb segment", - "appendicular skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "organism subdivision", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "radius bone hypoplasia", - "subdivision of organism along appendicular axis", - "manual digit plus metapodial segment", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "dermatocranium", - "pectoral complex", - "trunk region element", - "radius endochondral element", - "material anatomical entity", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "Squamous cell carcinoma", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "mesoderm-derived structure phenotype", + "bone element", + "regulation of biological process", + "digit 1 phenotype", + "lateral structure", "mesoderm-derived structure", - "abnormality of ear physiology", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "hematopoietic system", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "endochondral element", - "multi-limb segment region", - "appendicular skeletal system", - "system", - "bone marrow cell", - "Aplasia/hypoplasia involving bones of the hand", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "decreased qualitatively biological_process", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal craniocervical region morphology", - "continuant", - "absent sperm in the semen", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "Abnormality of the ocular adnexa", - "abnormally localised anatomical entity", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "skeleton", - "increased size of the anatomical entity", - "limb", + "Stage 5 chronic kidney disease", + "closing of the multicellular anatomical structure", + "organ system subdivision", + "thenar eminence phenotype", + "musculature", + "Abnormality of the thenar eminence", + "number of anatomical enitites of type organism subdivision phenotype", + "limb endochondral element phenotype", "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "abnormal nervous system morphology", - "abnormal cell morphology", - "subdivision of trunk", + "paired limb/fin phenotype", + "absent multicellular anatomical structure in the multicellular organism", + "anatomical conduit phenotype", + "taxon specific phenotype", + "Abnormal rectum morphology", + "absent manual digit", "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", - "Abnormality of the genitourinary system", - "blood cell", - "head bone", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "forelimb zeugopod skeleton", - "facial skeleton", - "bone of appendage girdle complex", + "subdivision of trunk", + "limb segment", + "forelimb morphology phenotype", + "musculature of limb", + "Abnormal cellular physiology", + "cardiovascular system", + "male reproductive system phenotype", "aplastic manual digit 1", - "dentary", - "segment of autopod", - "organic cyclic compound metabolic process", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "arm", - "abnormal nose morphology", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", - "postcranial axial skeletal system", - "abnormal digit morphology", - "skeleton of lower jaw", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "eye", - "compound organ", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal mouth", - "forelimb zeugopod", - "cranial skeletal system", - "Abnormality of head or neck", - "abnormal head morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "postcranial axial skeleton", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "tissue", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb long bone", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", + "anatomical entity morphology in the manus phenotype", + "anatomical system", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "lower digestive tract", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "subdivision of digestive tract", + "regulation of cellular biosynthetic process phenotype", + "limb bone morphology phenotype", + "decreased size of the forelimb endochondral element", + "renal pelvis", "forelimb", - "Abnormal forebrain morphology", - "abnormal limb morphology", - "anatomical conduit", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "sensory system", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "axial skeletal system", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Abnormal localization of kidney", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "kidney", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "delayed growth", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "Abnormality of the face", - "multi organ part structure", - "hemolymphoid system", - "organ part", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormality of the orbital region", + "Abnormal skeletal morphology", + "pathological phenotype observation", + "decreased size of the anatomical entity in the pectoral complex", + "digit 1 or 5", + "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "system", + "regulation of gene expression phenotype", + "bone of appendage girdle complex phenotype", + "Abnormality of prenatal development or birth", + "trunk region element", + "decreased size of the manual digit", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "paired limb/fin segment phenotype", + "ectoderm-derived structure", + "decreased length of limb bone", + "Abnormal digit morphology", + "negative regulation of cellular process", + "forelimb skeleton", + "genitourinary system", + "renal pelvis phenotype", + "anatomical entity", + "phenotypic effect", + "size of anatomical entity phenotype", + "Proximal placement of thumb", + "alimentary part of gastrointestinal system phenotype", + "pectoral appendage skeleton", + "forelimb endochondral element phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "biological regulation", + "abdominal segment of trunk", "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "orbital region", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal bone of pectoral complex morphology", - "orifice", - "ocular adnexa", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "simple eye", + "thenar eminence", + "Abnormality of limbs", + "regulation of gene expression", + "pectoral appendage", + "Abnormality of the musculoskeletal system", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "multicellular organism morphology phenotype", + "absent multicellular anatomical structure in the limb", + "Abnormality of the musculature of the limbs", + "anatomical structure physiology phenotype", + "digit morphology phenotype", + "aplasia or hypoplasia of skeleton", + "anatomical conduit atresia", + "Deviation of finger", "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal immune system", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "sensory perception of mechanical stimulus", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", + "Abnormality of limb bone", + "homeostatic process phenotype", + "Abnormal renal pelvis morphology", + "Aplasia/hypoplasia of the extremities", + "Short stature", + "digit 1", + "aplasia or hypoplasia of manual digit", + "Abnormality of the musculature", + "number of anatomical enitites of type material anatomical entity phenotype", + "thoracic segment of trunk", + "limb bone phenotype", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "absent organism subdivision", + "autopod region", + "decreased length of bone of pectoral complex", + "skeleton", + "anatomical collection phenotype", + "quality", + "absent anatomical structure in the limb", + "decreased length of mesoderm-derived structure", + "negative regulation of macromolecule metabolic process", + "abdominal segment element", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "Deviation of the thumb", + "regulation of biosynthetic process", + "bone of appendage girdle complex", + "absent anatomical entity", + "process", + "Abnormality of metabolism/homeostasis", + "limb morphology phenotype", + "biological regulation phenotype", + "intestine phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "external male genitalia", + "organism subdivision", + "limb segment phenotype", + "digit 1 or 5 phenotype", + "digestive system", + "anatomical entity morphology phenotype", "obsolete cell", "decreased length of long bone", - "digestive system", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal hematopoietic system morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "regulation of macromolecule biosynthetic process", - "multicellular organism", - "Thrombocytopenia", - "Abnormality of the immune system", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cavitated compound organ", - "Abnormal leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "abnormal hematopoietic system", - "digit 1", - "abnormal platelet morphology", - "aplasia or hypoplasia of mandible", - "nucleobase-containing compound metabolic process", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "subdivision of tube", - "Aplasia/Hypoplasia involving bones of the skull", - "mouth", - "abnormal mandible morphology", - "anatomical entity hypoplasia in face", - "abnormal jaw skeleton morphology", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", - "abnormal male reproductive system", - "abnormal mouth morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "Abnormality of body height", - "tube", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal digit", - "lower jaw region", - "abnormal primary metabolic process", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", - "abnormality of anatomical entity height", + "programmed DNA elimination", + "spatial pattern of anatomical entity phenotype", + "subdivision of tube atresia", + "multi-limb segment region", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "musculature of pectoral complex phenotype", + "decreased length of anatomical structure", + "musculature of manus phenotype", + "trunk", + "Abnormality of the musculature of the hand", + "appendage musculature", + "manus morphology phenotype", + "musculature of upper limb phenotype", + "Abnormality of the musculature of the upper limbs", + "compound organ physiology phenotype", + "Small thenar eminence", + "abdomen element physiology phenotype", + "pectoral appendage musculature phenotype", + "digit 1 plus metapodial segment", + "Abnormal renal physiology", + "Intestinal atresia", + "arm bone", + "kidney physiology phenotype", + "radius endochondral element", + "anatomical system physiology phenotype", + "abdominal segment element physiology phenotype", + "localised anatomical structure", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "cavitated compound organ physiology phenotype", + "decreased size of the organ", + "decreased size of the endochondral bone", + "Chronic kidney disease", + "renal system phenotype", + "multicellular anatomical structure physiology phenotype", + "body proper", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", + "male organism", + "renal system physiology phenotype", + "multicellular anatomical structure phenotype", + "Renal insufficiency", + "Abnormality of the kidney", + "material anatomical entity physiology phenotype", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "multicellular anatomical structure atresia", + "excretory system", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "absent autopodial extension", + "Fetal ultrasound soft marker", + "closing of the material anatomical entity", + "circulatory system", "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the genital system", - "intramembranous bone", + "main body axis", + "localised multicellular anatomical structure", + "lateral structure physiology phenotype", + "renal system", + "digestive system morphology phenotype", + "Abnormality of the urinary system", + "renal/urinary system phenotype", + "anatomical entity hypoplasia", + "forelimb bone", + "upper urinary tract phenotype", + "decreased length of digit 1 or 5", + "decreased length of forelimb bone", + "decreased length of bone element", + "limb long bone morphology phenotype", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "forelimb long bone", + "Abnormal forearm morphology", + "testis phenotype", + "negative regulation of biosynthetic process", + "material entity", + "long bone", "structure with developmental contribution from neural crest", - "bone of craniocervical region", - "abnormal head bone morphology", - "abnormal manus", - "bone element hypoplasia in face", + "Abnormality of the hand", + "radius bone", + "heart", + "Limb undergrowth", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "decreased length of skeletal element", + "decreased size of the material anatomical entity", + "decreased size of the long bone", + "forelimb zeugopod bone hypoplasia", + "decreased size of the bone of pectoral complex", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Hydronephrosis", + "decreased length of organism subdivision", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "Abnormal testis morphology", + "cardiovascular system phenotype", + "decreased size of the bone of free limb or fin", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased size of the limb bone", + "multi-tissue structure", + "limb long bone phenotype", + "forelimb zeugopod bone", + "decreased length of manual digit 1 or 5", + "decreased length of multicellular anatomical structure", + "kidney", + "Growth delay", + "radius bone phenotype", + "decreased length of digit 1", + "alimentary part of gastrointestinal system morphology phenotype", + "decreased length of forelimb zeugopod bone", + "acropodium region", + "decreased size of the limb endochondral element", + "appendage musculature phenotype", + "forelimb bone phenotype", + "decreased length of limb endochondral element", + "Short forearm", + "delayed biological_process", + "decreased length of material anatomical entity", + "Abnormal upper limb bone morphology", + "closing of the anatomical system", + "decreased size of the arm bone", + "decreased size of the bone of appendage girdle complex", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "bone of pectoral complex morphology phenotype", + "negative regulation of metabolic process phenotype", "Short finger", + "organ", + "decreased size of the anatomical structure", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the endochondral element", + "decreased length of forelimb endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "long bone phenotype", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "increased size of the anatomical structure", + "primary circulatory organ", + "localised organ", + "thoracic segment organ", + "renal pelvis/ureter", + "phenotype", + "Fetal pyelectasis", + "embryonic development/birth phenotype", + "Abnormal fetal genitourinary system morphology", + "organ part", + "external genitalia phenotype", + "multicellular organism phenotype", + "decreased length of autopodial extension", + "organ part phenotype", + "Abnormal renal morphology", + "increased size of the organ part", + "Fetal anomaly", + "renal pelvis morphology phenotype", + "anatomical cluster", + "manual digitopodium region", + "Abnormality of the male genitalia", + "upper urinary tract", + "decreased length of digit", + "anatomical conduit", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Dilatation of the renal pelvis", + "Gastrointestinal atresia", + "late embryo", + "limb", + "increased size of the anatomical entity", + "increased size of the material anatomical entity", + "biological_process", + "genitourinary system phenotype", + "dilated anatomical entity", + "embryo", + "increased size of the anatomical conduit", + "anus atresia", + "Short long bone", + "reproductive organ", + "Abnormal fetal morphology", + "increased size of the multicellular anatomical structure", + "decreased length of bone of appendage girdle complex", + "Abnormal male external genitalia morphology", + "Abnormality of the genital system", + "testis", + "large intestine morphology phenotype", + "localised reproductive structure", + "reproductive system phenotype", + "Cryptorchidism", + "heart plus pericardium", + "subdivision of tube", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "reproductive structure phenotype", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "external genitalia", + "disconnected anatomical group", + "male reproductive organ", + "gonad phenotype", + "reproductive structure", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "external male genitalia phenotype", + "decreased size of the organism subdivision", "anterior region of body", "decreased length of manual digit 1", + "rectum phenotype", + "paired limb/fin", + "decreased size of the digit", + "Short thumb", "Short digit", - "Abnormal nasal tip morphology", - "Abnormal external nose morphology", - "anatomical point", - "olfactory organ", - "Abnormality of the nose", - "entire sense organ system", - "abnormal external nose morphology", - "immaterial anatomical entity", - "nose", - "aplastic anatomical entity", - "Bulbous nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "abnormal erythrocyte morphology", + "decreased size of the forelimb bone", + "deviation of manual digit 1", "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "3-D shape anatomical entity", - "abnormal renal system", - "concave 3-D shape anatomical entity", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "excretory system", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "upper urinary tract", - "Abnormality of the kidney", - "Horseshoe kidney", - "abnormal renal system morphology", - "developmental process", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "shape kidney", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "abnormal pigmentation", - "Abnormality of the head", - "organic substance metabolic process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "cellular component organization", + "Deviation of the hand or of fingers of the hand", + "deviation of manual digit", + "Growth abnormality", + "cardiovascular system morphology phenotype", + "decreased size of the skeletal element", + "reproductive organ phenotype", + "viscus", + "circulatory organ", + "heart morphology phenotype", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", + "tube", + "Abnormality of body height", + "size of multicellular organism phenotype", + "arm bone phenotype", + "delayed growth", + "number of anatomical enitites of type anatomical structure phenotype", + "decreased size of the multicellular organism", + "regulation of cellular process", + "decreased height of the anatomical entity", + "growth phenotype", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", ], - "has_phenotype_count": 20, + "has_phenotype_count": 15, "highlight": None, "score": None, }, { - "id": "MONDO:0013248", + "id": "MONDO:0013499", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "name": "Fanconi anemia complementation group P", "full_name": None, "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCO", - "Fanconi Anemia, complementation group type O", - "Fanconi anaemia caused by mutation in RAD51C", - "Fanconi anaemia caused by mutation in Rad51C", - "Fanconi anaemia complementation group type O", - "Fanconi anemia caused by mutation in RAD51C", - "Fanconi anemia caused by mutation in Rad51C", - "Fanconi anemia complementation group type O", - "Fanconi anemia, complementation group O", - "RAD51C Fanconi anaemia", - "RAD51C Fanconi anemia", - "Rad51C Fanconi anaemia", - "Rad51C Fanconi anemia", + "FANCP", + "Fanconi Anemia, complementation group type P", + "Fanconi anaemia caused by mutation in SLX4", + "Fanconi anaemia caused by mutation in Slx4", + "Fanconi anaemia complementation group type P", + "Fanconi anemia caused by mutation in SLX4", + "Fanconi anemia caused by mutation in Slx4", + "Fanconi anemia complementation group type P", + "Fanconi anemia, complementation group P", + "SLX4 Fanconi anaemia", + "SLX4 Fanconi anemia", + "Slx4 Fanconi anaemia", + "Slx4 Fanconi anemia", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0002984", "HP:0009777", - "HP:0001627", - "HP:0001245", - "HP:0002023", - "HP:0000126", + "HP:0002860", + "HP:0000252", + "HP:0002984", + "HP:0000581", + "HP:0001876", + "HP:0000347", "HP:0000028", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0001510", + "HP:0000125", + "HP:0000414", + "HP:0000957", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", "HP:0004322", - "HP:0003774", - "HP:0025023", + "HP:0000365", + "HP:0001045", ], "has_phenotype_label": [ - "Chromosome breakage", - "Hypoplasia of the radius", "Absent thumb", - "Abnormal heart morphology", - "Small thenar eminence", - "Anal atresia", - "Hydronephrosis", + "Squamous cell carcinoma", + "Microcephaly", + "Hypoplasia of the radius", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", "Cryptorchidism", "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", + "Growth delay", + "Pelvic kidney", + "Bulbous nose", + "Cafe-au-lait spot", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", "Short stature", - "Stage 5 chronic kidney disease", - "Rectal atresia", + "Hearing impairment", + "Vitiligo", ], "has_phenotype_closure": [ - "HP:0012732", - "UBERON:0012361", - "UPHENO:0002714", - "UPHENO:0026506", - "UBERON:0019221", - "NCBITaxon:2759", - "UBERON:5001463", - "UPHENO:0009382", - "UPHENO:0087006", - "UBERON:0002544", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0008523", - "UPHENO:0006910", - "UPHENO:0080114", - "UPHENO:0005433", - "UBERON:0015001", - "HP:0001155", - "UBERON:0008837", - "UPHENO:0086700", - "UBERON:0001015", - "UBERON:0005451", - "UBERON:0001442", - "HP:0000001", - "UPHENO:0081466", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0008785", + "UPHENO:0052160", + "UPHENO:0050106", + "UPHENO:0050620", + "HP:0000364", + "UPHENO:0002267", + "GO:0007605", + "UPHENO:0002386", + "UPHENO:0005596", + "UBERON:0002105", + "UPHENO:0052159", + "UPHENO:0052970", + "UPHENO:0050625", + "UPHENO:0049699", + "HP:0031704", + "UPHENO:0005512", + "GO:0050954", + "UPHENO:0002211", + "UPHENO:0005518", + "UPHENO:0052178", + "UPHENO:0005517", + "UPHENO:0081423", + "UPHENO:0002949", + "UPHENO:0080351", + "UPHENO:0075159", + "GO:0005623", + "UPHENO:0049775", + "UPHENO:0050784", + "UPHENO:0050126", + "HP:0001939", "GO:0010558", - "UPHENO:0002786", - "UBERON:0000062", - "HP:0006496", + "UPHENO:0050065", + "GO:0050794", + "GO:0019222", + "GO:0065007", + "GO:0008152", + "GO:0060255", + "GO:0009889", + "GO:0031323", + 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"UBERON:0002075", - "UPHENO:0086172", - "UBERON:0000059", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0010758", - "UBERON:0001555", - "UPHENO:0087846", - "UBERON:0002470", - "UPHENO:0081790", - "UPHENO:0050108", - "HP:0000107", - "UBERON:0012140", - "UPHENO:0002803", - "UBERON:0005172", - "UBERON:0001440", - "HP:0040070", - "UBERON:0012475", - "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0081433", - "UPHENO:0002442", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "HP:0005922", - "UPHENO:0026183", - "UPHENO:0084771", - "UBERON:0005178", - "UPHENO:0049701", - "UPHENO:0081313", - "UBERON:0012139", - "UBERON:0000948", - "UBERON:0002398", - "UPHENO:0086128", - "UBERON:0009569", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "UBERON:0000915", - "UBERON:0005181", - "UPHENO:0080362", - "NCBITaxon:6072", - "UPHENO:0076776", - "UBERON:0001009", - "UBERON:0003103", - "UBERON:0015410", - "UPHENO:0076803", - "UBERON:0004489", + "UPHENO:0003025", + "UBERON:0000020", + "UPHENO:0075944", + "UPHENO:0046540", + "UBERON:0000955", + "UBERON:0010703", + "UPHENO:0002694", + "HP:0009826", "UBERON:0002471", - "UPHENO:0081755", - "UBERON:0034925", - "HP:0001421", - "HP:0011844", - "HP:0001227", - "UPHENO:0002832", - "GO:0032502", - "UPHENO:0063632", - "UPHENO:0002816", - "UBERON:0011143", - "UPHENO:0053580", - "GO:0006325", - "UPHENO:0063639", - "UPHENO:0002655", - "HP:0003011", - "UBERON:0006048", - "UBERON:0007271", - "HP:0001245", - "HP:0004378", - "UBERON:0007269", - "UBERON:0004480", - "HP:0009127", - "UBERON:0000383", - "HP:0001446", - "UBERON:0000161", - "UPHENO:0084841", - "UBERON:0004481", - "HP:0025031", - "UBERON:0036295", - "UBERON:0004907", - "UPHENO:0079876", - "UBERON:0001007", - "UPHENO:0063599", - "UPHENO:0084448", - "UBERON:0001245", - "HP:0011793", - "HP:0034915", - "HP:0025033", - "HP:0011805", - "UPHENO:0086682", - "UPHENO:0046505", - "UPHENO:0086644", - "HP:0009380", - "UPHENO:0074228", - "UBERON:0000990", - "HP:0000924", - "UBERON:0004121", - "GO:0006807", - "UPHENO:0002839", - "UBERON:0000025", - "UBERON:0034929", - "HP:0002250", - "UPHENO:0015280", - "GO:0016043", - "UPHENO:0075902", - "HP:0010945", - "UPHENO:0075949", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0084132", - "UPHENO:0076718", - "UPHENO:0005651", - "UBERON:0000064", - "UBERON:0001008", - "OBI:0100026", - "UPHENO:0001072", - "HP:0003241", - "HP:0010935", - "UPHENO:0049940", - "UPHENO:0076779", - "UBERON:0010538", - "UPHENO:0001478", - "HP:0010946", - "GO:0048609", - "GO:0003006", - "UPHENO:0080382", - "UBERON:0002417", - "UBERON:0005173", - "UBERON:0000323", - "HP:0034058", - "GO:0031326", - "UPHENO:0065599", - "UBERON:8450002", - "UBERON:0000916", - "HP:0001197", - "UBERON:0001224", - "UPHENO:0087346", - "UPHENO:0084124", - "HP:0000119", - "UBERON:0007100", - "UPHENO:0005016", - "UPHENO:0087427", - "HP:0034242", - "UBERON:0034923", - "UPHENO:0084834", - "UBERON:0004054", - "UBERON:0000922", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "HP:0000028", - "UPHENO:0081423", - "UBERON:0008878", - "UBERON:0005409", - "UPHENO:0080369", - "CL:0000586", - "UPHENO:0002598", - "HP:0001627", - "UPHENO:0049970", - "GO:0007276", - "GO:0007283", - "CL:0000408", - "UBERON:0000481", - "UBERON:0000079", - "GO:0050794", - "UPHENO:0085875", - "UBERON:0014793", - "HP:0009603", - "UBERON:0004111", + "UPHENO:0002926", + "UPHENO:0075198", + "UPHENO:0068912", + "UPHENO:0086172", + "UPHENO:0077418", + "UBERON:0002389", + "UPHENO:0087349", + "UBERON:0000468", + "UPHENO:0046538", + "UPHENO:0046445", + "UPHENO:0002523", + "UPHENO:0002637", + "UPHENO:0046392", "UPHENO:0080377", - "UPHENO:0049985", - "GO:0000003", - "UBERON:0001968", - "UBERON:0005177", - "HP:0011277", - "HP:0000032", - "UPHENO:0085194", - "HP:0001172", + "UBERON:0011137", + "UBERON:0004111", + "UPHENO:0063794", + "UPHENO:0076791", + "UPHENO:0046403", + "HP:0009821", + "UPHENO:0076754", + "UPHENO:0069194", + "HP:0009824", "UBERON:0011676", + "HP:0001172", "HP:0002973", - "HP:0000025", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0015228", - "CL:0000015", - "HP:0008669", - "UBERON:0003606", - "UPHENO:0021561", - "HP:0000811", - "UPHENO:0003055", - "UPHENO:0086201", - "HP:0010944", - "UPHENO:0086023", - "HP:0001510", - "UPHENO:0053298", - "UBERON:0001052", - "UBERON:0005090", - "HP:0000078", - "HP:0012622", - "UBERON:0010712", - "HP:0000080", - "UPHENO:0077426", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0002597", - "CL:0000413", - "CL:0000039", - "UBERON:0000991", - "HP:0011024", + "CL:0001035", + "UPHENO:0001002", + "UPHENO:0012308", + "GO:0040007", + "UPHENO:0069163", + "UBERON:0004756", + "HP:0002692", + "UPHENO:0080200", + "HP:0200007", + "UPHENO:0076761", + "UBERON:0008785", + "UPHENO:0002668", + "UBERON:0034923", + "HP:0000125", + "UPHENO:0002910", + "UPHENO:0053571", + "HP:0000271", + "UBERON:0001474", + "CL:0000329", "UBERON:0011216", - "UBERON:0004175", - "UBERON:0004176", - "UPHENO:0086198", - "UPHENO:0049367", - "UPHENO:0085873", - "UBERON:0000473", + "UPHENO:0002812", + "HP:0000315", + "UPHENO:0002531", + "UPHENO:0002593", + "UBERON:0000161", + "UPHENO:0084761", + "HP:0001872", + "UBERON:0000025", + "UBERON:0004088", + "UPHENO:0049642", + "UBERON:0001456", + "UPHENO:0003085", + "UPHENO:0049703", + "UBERON:0001819", + "UPHENO:0003069", + "HP:0030669", + "UPHENO:0063722", + "HP:0001881", + "HP:0002715", + "HP:0020047", + "UPHENO:0077348", + "UBERON:0001690", + "UPHENO:0002736", + "UPHENO:0086173", + "UPHENO:0002818", + "HP:0012145", + "UPHENO:0002994", + "UPHENO:0085371", + "HP:0011875", + "UPHENO:0085302", + "UPHENO:0080099", + "CL:0000219", + "UPHENO:0041465", + "UPHENO:0002772", + "UPHENO:0069046", + "CL:0002242", + "CL:0000255", + "UPHENO:0075997", + "UBERON:0002371", + "HP:0000581", + "UPHENO:0002733", + "UPHENO:0085344", + "CL:0000458", + "CL:0000764", + "UPHENO:0068932", + "UPHENO:0063787", + "UPHENO:0068941", + "UBERON:0000079", + "HP:0001871", + "UPHENO:0002948", + "CL:0000233", + "UBERON:0019231", + "UBERON:0010364", + "UPHENO:0002903", + "UPHENO:0081466", + "CL:0002092", + "UPHENO:0077391", "UBERON:0004053", - "UBERON:0004122", - "UPHENO:0002595", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0076735", - "UPHENO:0078452", - "HP:0012243", - "UBERON:0005156", - "UPHENO:0046411", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "UPHENO:0046707", - "HP:0009381", - "UPHENO:0084829", - "HP:0004097", - "UPHENO:0050101", - "UBERON:0001353", - "HP:0009623", - "HP:0009484", - "HP:0001507", - "UBERON:0003466", - "UPHENO:0069254", - "GO:0010468", - "UPHENO:0000541", - "UPHENO:0000543", - "UBERON:0013522", - "UPHENO:0080351", - "UPHENO:0049874", - "UPHENO:0076740", - "HP:0100871", - "HP:0000002", - "HP:0012211", - "UPHENO:0002411", - "HP:0003774", - "UPHENO:0076773", - "UPHENO:0063629", - "HP:0002589", - "NCBITaxon:1", - "HP:0011100", - "NCBITaxon:33154", - "UPHENO:0002725", - "HP:0012718", + "UBERON:0000479", + "UPHENO:0079876", + "UBERON:0001007", + "CL:0000457", + "UBERON:0000064", + "CL:0000081", + "CL:0000763", + "HP:0031816", + "UPHENO:0053633", + "UBERON:0010314", + "HP:0001873", + "HP:0005561", + "HP:0010987", + "HP:0011893", + "UPHENO:0053644", + "UPHENO:0046397", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "GO:0042592", + "UPHENO:0049743", + "UPHENO:0081786", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0002813", + "UPHENO:0002732", + "HP:0002818", + "HP:0000277", + "UBERON:0011158", + "UPHENO:0087501", + "UPHENO:0076800", + "UPHENO:0002550", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", + "UBERON:0003457", + "UPHENO:0002832", + "UPHENO:0080010", + "HP:0032251", + "UPHENO:0002988", + "HP:0034261", "HP:0009777", "UBERON:0004921", - "UBERON:0000160", - "HP:0025023", - "HP:0002034", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0002971", + "UPHENO:0088116", + "UPHENO:0002838", + "HP:0009122", + "UPHENO:0049904", + "HP:0025031", + "HP:0000347", + "UPHENO:0076803", + "UPHENO:0002815", + "UBERON:0010313", + "UBERON:0004288", + "UPHENO:0002830", + "UPHENO:0046405", + "UBERON:0011595", + "UBERON:0012360", + "HP:0011821", + "UBERON:0001710", + "UBERON:0013522", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0000473", + "UPHENO:0053563", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UPHENO:0003055", ], "has_phenotype_closure_label": [ - "Anorectal anomaly", - "rectum atresia", - "Rectal atresia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "internal anal region", - "abnormal rectum", - "Metazoa", - "lower digestive tract", - "intestine", - "rectum", - "large intestine", - "Morphological abnormality of the gastrointestinal tract", - "abnormal alimentary part of gastrointestinal system", - "subdivision of tube", - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormality of the gastrointestinal tract", - "Abnormal renal physiology", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", - "Chronic kidney disease", - "Abnormality of the urinary system physiology", - "Abnormality of body height", + "ear", + "sensory perception", + "sense organ physiology phenotype", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "material anatomical entity physiology phenotype", + "Abnormal ear physiology", + "sensory perception of sound", + "multicellular organismal process", + "decreased sensory perception of sound", + "decreased qualitatively system process", + "nervous system process phenotype", + "decreased qualitatively sensory perception of sound", + "multicellular organismal process phenotype", + "sensory perception phenotype", + "Hearing abnormality", + "system process", + "decreased qualitatively sensory perception of mechanical stimulus", + "multicellular anatomical structure physiology phenotype", + "ear physiology phenotype", + "vestibulo-auditory system", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "nervous system process", + "Hearing impairment", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "Short stature", + "size of multicellular organism phenotype", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", + "regulation of biological process", + "programmed DNA elimination by chromosome breakage", + "negative regulation of gene expression", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal cellular physiology", + "negative regulation of cellular process phenotype", "decreased height of the anatomical entity", - "digestive system element", + "regulation of cellular process", + "negative regulation of biological process", + "negative regulation of macromolecule metabolic process phenotype", + "3-D shape anatomical entity", + "concave 3-D shape anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", + "decreased size of the anatomical conduit", + "decreased length of ectoderm-derived structure", + "decreased length of palpebral fissure", + "decreased sensory perception", + "decreased length of orifice", + "erythroid lineage cell morphology phenotype", + "Abnormal skin morphology", + "increased biological_process", + "biological_process rate phenotype", + "pigmentation", + "increased qualitatively biological_process", + "Localized skin lesion", + "Hypermelanotic macule", + "Hyperpigmentation of the skin", + "regulation of cellular metabolic process", + "pigmentation phenotype", + "Cafe-au-lait spot", + "Macule", + "nose phenotype", + "increased size of the multicellular anatomical structure", + "Abnormality of the nose", + "nose", + "increased size of the organ", + "olfactory organ", + "immaterial anatomical entity", + "external nose morphology phenotype", + "increased size of the sense organ", + "Abnormal nasal tip morphology", + "nose tip morphology phenotype", + "increased size of the anatomical structure", + "external nose", + "increased size of the organism subdivision", + "sense organ phenotype", + "Abnormality of chromosome stability", + "immaterial entity", + "increased volume of nose", + "Abnormal external nose morphology", + "upper urinary tract phenotype", + "abdomen element phenotype", + "renal system", + "excretory system", + "trunk", + "abdominal segment element", + "Abnormality of the kidney", + "localised cavitated compound organ", + "localised lateral structure", + "negative regulation of gene expression phenotype", + "localised compound organ", + "Chromosome breakage", + "trunk region element phenotype", + "compound organ phenotype", + "biological regulation", + "abdominal segment of trunk", + "localised trunk region element", + "Abnormal localization of kidney", + "cavitated compound organ phenotype", + "renal system phenotype", + "Abnormal renal morphology", + "Abnormality of the upper urinary tract", + "abdomen element", + "process", + "occurrent", + "growth phenotype", + "kidney", "Growth delay", - "growth", - "decreased size of the multicellular organism", - "Renal cyst", - "intestine atresia", - "Proximal placement of thumb", - "deviation of manual digit", + "delayed biological_process", + "trunk region element", + "decreased size of the manual digit", + "decreased length of digit 1", "Short digit", - "Eumetazoa", - "Eukaryota", + "decreased length of manual digit 1 or 5", + "Short thumb", "decreased length of manual digit", - "decreased length of manual digit 1", + "decreased size of the organism subdivision", + "negative regulation of metabolic process phenotype", "Short finger", - "Abnormality of the genital system", - "abnormal reproductive system", - "internal male genitalia", - "testis", - "abnormally localised testis", - "Azoospermia", - "Abnormality of the male genitalia", + "multicellular organism phenotype", + "decreased length of anatomical conduit", + "external genitalia phenotype", + "Abnormal external genitalia", + "localised testis", + "external male genitalia phenotype", + "male reproductive organ phenotype", + "Irregular hyperpigmentation", "male organism", - "obsolete multicellular organism reproduction", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "male germ cell", - "abnormality of multicellular organism height", - "male gamete", - "semen", - "absent anatomical entity in the semen", - "abnormal multicellular organismal reproductive process", - "developmental process", - "reproductive process", - "abnormal number of anatomical enitites of type sperm", - "abnormally localised anatomical entity in independent continuant", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormal internal genitalia", - "abnormal number of anatomical enitites of type cell", - "external genitalia", - "internal genitalia", - "gonad", - "organism substance", - "abnormal gamete", - "sperm", - "reproduction", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", - "absent gamete", - "germ cell", - "Abnormality of reproductive system physiology", - "gamete", "reproductive structure", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "male reproductive system", - "spermatogenesis", - "gamete generation", - "abnormally localised anatomical entity", - "abnormal male reproductive system", - "decreased developmental process", - "reproductive organ", - "developmental process involved in reproduction", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal spermatogenesis", - "absent germ cell", - "changed biological_process rate", - "abnormal renal system morphology", - "abnormally dilated renal pelvis", - "abnormal late embryo", - "Fetal pyelectasis", - "renal pelvis/ureter", - "Abnormal renal pelvis morphology", - "Abnormal fetal morphology", - "multi-tissue structure", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of the kidney", - "embryo", - "renal pelvis", - "kidney", - "sexual reproduction", - "abnormal genitourinary system", - "decreased length of digit", - "anatomical cluster", - "increased size of the anatomical entity in independent continuant", - "late embryo", - "abdominal segment of trunk", - "abnormal renal pelvis", - "abdomen", - "disconnected anatomical group", - "Abnormality of prenatal development or birth", - "Abnormal fetal genitourinary system morphology", - "abnormal renal system", - "Abnormal renal morphology", - "renal system", - "organ part", - "increased size of the renal pelvis", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", - "abnormal external male genitalia", - "Fetal anomaly", - "upper urinary tract", - "Anal atresia", - "Dilatation of the renal pelvis", - "anus atresia", - "anus", - "abnormal digestive system", - "abnormal closing of the anatomical entity", - "Neoplasm by anatomical site", - "deviation of manual digit 1", - "digestive tract", - "abnormal digestive system morphology", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "abnormal anus", - "multicellular organismal reproductive process", - "anatomical conduit", - "digestive system", - "Abnormality of the musculature of the limbs", - "musculature of manus", - "abnormal musculature of limb", - "cavitated compound organ", - "abnormal musculature of upper limb", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "tube", - "abnormal muscle organ morphology", - "Abnormality of the musculature of the hand", - "musculature of body", - "haploid cell", - "appendage musculature", - "Abnormality of the musculature of the upper limbs", - "Abnormal rectum morphology", + "localised material anatomical entity", + "genitourinary system", + "reproductive system", + "gonad phenotype", + "reproductive system phenotype", + "external genitalia", + "localised abdomen element", "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "Abnormal palm morphology", - "musculature", - "Abnormality of the thenar eminence", - "germ line cell", - "thenar eminence hypoplasia", - "abnormal musculature", - "musculature of upper limb", - "excretory system", - "Fetal ultrasound soft marker", - "circulatory system", - "abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "delayed growth", - "abnormal cardiovascular system", - "Abnormal heart morphology", - "circulatory organ", - "viscus", - "Gastrointestinal atresia", - "trunk", - "decreased spermatogenesis", - "abnormal kidney morphology", + "localised male reproductive organ", + "localised organ", + "multicellular organism morphology phenotype", + "sensory system", + "craniocervical region phenotype", "main body axis", - "subdivision of organism along main body axis", - "Cryptorchidism", - "heart plus pericardium", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "forelimb long bone", - "limb segment", - "abnormal anatomical entity morphology in the independent continuant", + "localised multicellular anatomical structure", + "Growth abnormality", + "axial skeletal system", + "head phenotype", + "skeleton phenotype", + "organism", + "Neoplasm of the skin", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "decreased length of bone of pectoral complex", + "nose tip", + "subdivision of organism along main body axis phenotype", + "craniocervical region", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of telencephalon", + "decreased multicellular organismal process", + "root", + "appendage", + "anatomical entity phenotype", + "decreased length of organ", + "forebrain morphology phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "Decreased head circumference", + "central nervous system morphology phenotype", + "Abnormality of the nervous system", + "anatomical conduit phenotype", + "postcranial axial skeleton", + "number of hematopoietic cell phenotype", + "nervous system phenotype", + "All", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "anatomical conduit", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "craniocervical region morphology phenotype", + "aplasia or hypoplasia of skeleton", + "Neoplasm", + "ectoderm-derived structure phenotype", + "skin of body phenotype", + "negative regulation of metabolic process", + "shape kidney", + "manual digit 1 or 5", + "nervous system morphology phenotype", + "digit 1 phenotype", + "digit phenotype", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "visual system", + "kidney morphology phenotype", + "postcranial axial skeletal system", + "limb phenotype", + "paired limb/fin skeleton", + "subdivision of skeletal system phenotype", + "renal system morphology phenotype", + "radius bone morphology phenotype", + "Abnormal myeloid cell morphology", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "facial skeleton", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "membrane bone phenotype", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", + "entity", + "endochondral bone phenotype", + "absent material anatomical entity in the limb", + "dermal bone", + "size of anatomical entity phenotype", + "Abnormality of skin pigmentation", + "bone of jaw phenotype", + "phenotypic effect", + "autopod region morphology phenotype", + "cellular organisms", + "number of cell phenotype", + "Metazoa", + "Abnormal hand morphology", + "external soft tissue zone", + "skeletal system phenotype", + "digit plus metapodial segment", + "mouth", + "Absent thumb", + "bone of free limb or fin", + "Bulbous nose", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "manual digit morphology in the manus phenotype", + "forelimb zeugopod morphology phenotype", + "decreased number of anatomical structure", + "head bone phenotype", + "skeleton of pectoral complex", + "erythrocyte morphology phenotype", + "paired limb/fin segment", + "Opisthokonta", + "decreased length of endochondral bone", + "compound organ", + "eye", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "decreased size of the palpebral fissure", + "cranial skeletal system", + "multicellular anatomical structure phenotype", + "bone element phenotype", + "dermatocranium", + "pectoral complex", + "absent multicellular anatomical structure in the multicellular organism", + "head", + "upper limb segment phenotype", + "endochondral element phenotype", + "manual digit 1 morphology phenotype", + "forebrain", + "regional part of brain phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "orbital region phenotype", + "skeleton of limb", + "skin of body morphology phenotype", + "material anatomical entity", + "structure with developmental contribution from neural crest phenotype", + "integument phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "absent anatomical structure in the forelimb", + "bone marrow cell", + "bone of pectoral complex phenotype", + "increased size of the ectoderm-derived structure", + "localised kidney", + "absent anatomical structure", + "reproductive organ phenotype", + "decreased size of the skeletal element", + "appendicular skeleton", + "upper limb segment", + "arm phenotype", + "hematopoietic system", + "segment of manus", + "protein-containing material entity", + "manual digit plus metapodial segment", + "anatomical system phenotype", + "sense organ", + "limb endochondral element", + "agenesis of anatomical entity", + "skeleton of manus", + "musculoskeletal system", + "Aplasia/Hypoplasia of facial bones", + "phenotype", + "Abnormal cell morphology", + "head bone morphology phenotype", + "Abnormal limb bone morphology", + "absent digit", + "arm", + "autopodial extension phenotype", + "manual digit", + "subdivision of trunk", + "Abnormal thumb morphology", + "continuant", + "entire sense organ system", + "absent material anatomical entity in the forelimb", + "Abnormal appendicular skeleton morphology", + "limb segment phenotype", + "Abnormal cerebral morphology", + "arm bone", + "absent organism subdivision in the multicellular organism", + "autopod region phenotype", + "increased pigmentation", + "material anatomical entity phenotype", + "forelimb long bone phenotype", + "skeletal system", + "motile cell", + "decreased size of the digit", + "paired limb/fin", + "Hypoplasia of the radius", + "manus phenotype", "multicellular anatomical structure", - "forelimb endochondral element", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "abnormality of internal male genitalia physiology", - "organism subdivision", - "anatomical entity hypoplasia in independent continuant", - "decreased length of forelimb zeugopod bone", - "musculature of limb", - "negative regulation of biosynthetic process", - "Abnormality of the anus", - "organ system subdivision", - "radius endochondral element", - "abnormal arm", "absent anatomical entity in the forelimb", - "external soft tissue zone", - "palmar/plantar part of autopod", - "Abnormality of limb bone", - "Abnormality of the musculoskeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "terminal part of digestive tract", - "absent anatomical entity in the limb", - "abnormal forelimb morphology", - "abnormal skeletal system", + "regulation of metabolic process", + "decreased size of the ectoderm-derived structure", "autopodial extension", - "abnormal long bone morphology", - "forelimb zeugopod bone", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "subdivision of organism along appendicular axis", - "radius bone hypoplasia", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "programmed DNA elimination", - "digit", - "anatomical entity", - "palmar part of manus", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the palmar part of manus", - "subdivision of trunk", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "Aplasia/Hypoplasia of the mandible", + "mesoderm-derived structure phenotype", + "neoplasm phenotype", + "aplasia or hypoplasia of mandible", + "bone element", + "intramembranous bone phenotype", + "lateral structure", + "Squamous cell carcinoma", + "mesoderm-derived structure", + "organ system subdivision", + "erythrocyte", + "musculature", + "regional part of brain", + "number of anatomical enitites of type organism subdivision phenotype", + "limb endochondral element phenotype", + "anatomical structure", + "anatomical entity physiology phenotype", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "forelimb endochondral element", + "Abnormality of the skin", + "paired limb/fin phenotype", + "taxon specific phenotype", + "regional part of nervous system phenotype", + "skeletal element", + "regulation of biosynthetic process phenotype", + "zeugopod", "absent manual digit", - "abnormal phenotype by ontology source", - "Growth abnormality", - "abnormal palmar part of manus morphology", - "programmed DNA elimination by chromosome breakage", - "abnormal cell", - "regulation of macromolecule biosynthetic process", - "alimentary part of gastrointestinal system", - "Abnormal reproductive system morphology", - "muscle organ", - "abnormal anatomical entity length", - "orifice", - "DNA metabolic process", - "organ", - "occurrent", - "upper limb segment", - "appendicular skeleton", - "obsolete heterocycle metabolic process", - "non-functional anatomical entity", - "thoracic segment organ", - "aplasia or hypoplasia of radius bone", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormal upper limb bone morphology", - "abnormality of kidney physiology", - "negative regulation of cellular biosynthetic process", - "root", - "appendage", - "Abnormal internal genitalia", - "regulation of cellular process", - "abnormal growth", + "limb segment", + "forelimb morphology phenotype", + "decreased sensory perception of mechanical stimulus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "nose morphology phenotype", + "Pelvic kidney", + "telencephalon phenotype", + "male reproductive system phenotype", + "sensory perception of mechanical stimulus phenotype", "independent continuant", - "reproductive system", - "organic cyclic compound metabolic process", - "segment of autopod", - "abnormal intestine morphology", + "facial skeleton morphology phenotype", "aplastic manual digit 1", - "deviation of anatomical entity", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "obsolete cellular aromatic compound metabolic process", - "Abnormality of limbs", - "male reproductive organ", - "cellular component organization or biogenesis", - "abnormal testis morphology", - "forelimb zeugopod", - "continuant", - "Chromosome breakage", - "abnormal chromatin organization", - "decreased size of the anatomical entity in the pectoral complex", + "dentary", + "anatomical entity morphology in the manus phenotype", + "segment of autopod", + "anatomical system", + "absent multicellular anatomical structure in the forelimb", + "limb bone morphology phenotype", + "palpebral fissure", + "decreased size of the forelimb endochondral element", + "bone element hypoplasia in face", + "Abnormal forebrain morphology", "forelimb", "Abnormal skeletal morphology", - "material entity", - "abnormal spatial pattern of anatomical entity", - "protein-containing complex organization", - "limb bone", - "increased size of the anatomical entity", - "abnormal limb bone", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "metabolic process", - "musculature of pectoral complex", - "thoracic cavity element", - "multicellular organism", - "absent anatomical entity in the multicellular organism", - "abnormal organelle organization", - "cellular organisms", - "Abnormality of the musculature", - "thoracic segment of trunk", - "abnormal digit", - "obsolete nitrogen compound metabolic process", - "abnormal limb bone morphology", - "phenotype", - "nucleobase-containing compound metabolic process", - "absent digit", - "decreased height of the multicellular organism", - "Short long bone", - "male gamete generation", - "skeleton", - "Abnormal external genitalia", - "negative regulation of biological process", - "Abnormal large intestine morphology", - "abnormal anatomical entity morphology", - "arm bone", - "specifically dependent continuant", + "decreased size of the anatomical entity in the pectoral complex", + "size of skull phenotype", + "Abnormal facial skeleton morphology", + "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "bone of appendage girdle complex phenotype", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abdomen", + "manual digit 1 plus metapodial segment", + "dermal skeletal element phenotype", + "paired limb/fin segment phenotype", + "ectoderm-derived structure", + "decreased length of limb bone", + "Abnormal digit morphology", + "head morphology phenotype", + "forelimb skeleton", + "Aplasia/hypoplasia involving the skeleton", "decreased qualitatively biological_process", - "abnormal cellular component organization", - "Deviation of the hand or of fingers of the hand", - "abnormal primary metabolic process", - "pectoral appendage", + "ear phenotype", + "anatomical entity", + "pectoral appendage skeleton", + "Vitiligo", + "Short palpebral fissure", + "decreased size of the limb endochondral element", + "acropodium region", + "bone marrow", + "dermal skeletal element", + "subdivision of organism along main body axis", + "kidney phenotype", + "skeletal system morphology phenotype", + "manus", + "increased size of the material anatomical entity", + "increased size of the anatomical entity", + "limb", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "Abnormality of limbs", + "number of anatomical enitites of type material anatomical entity phenotype", "body proper", - "alimentary part of gastrointestinal system atresia", - "cellular component organization", - "Deviation of finger", - "negative regulation of metabolic process", - "Aplasia/hypoplasia involving bones of the upper limbs", - "cellular metabolic process", - "abnormal forelimb zeugopod morphology", - "anatomical entity hypoplasia", - "Short stature", - "decreased biological_process", + "regulation of gene expression", + "pectoral appendage", + "Microcephaly", + "multi-tissue structure phenotype", + "Abnormality of the musculoskeletal system", + "increased size of the nose", + "Abnormal cellular immune system morphology", + "absent multicellular anatomical structure in the limb", + "digit morphology phenotype", + "Abnormality of the ocular adnexa", + "decreased number of cell", + "Micrognathia", + "Abnormal mandible morphology", "Aplasia/hypoplasia of the extremities", - "negative regulation of cellular process", - "decreased qualitatively reproductive process", - "genitourinary system", - "forelimb skeleton", - "absent sperm in the semen", - "Hydronephrosis", + "Hypoplastic facial bones", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "absent organism subdivision", + "skeleton", + "immune system phenotype", + "anatomical collection phenotype", + "quality", + "decreased number of platelet", + "organ physiology phenotype", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "absent autopodial extension", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "bone of appendage girdle complex", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "digit 1 plus metapodial segment", + "telencephalon morphology phenotype", + "integumental system", + "absent anatomical entity", + "anatomical entity morphology in the pectoral complex phenotype", + "musculature phenotype", + "aplasia or hypoplasia of skull", + "number of anatomical enitites of type anatomical entity phenotype", + "external male genitalia", + "organism subdivision", + "digit 1 or 5 phenotype", + "telencephalon", + "multi-limb segment region", + "regulation of gene expression phenotype", + "system", + "brain morphology phenotype", + "Abnormality of the integument", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "brain", + "regional part of nervous system", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "Abnormality of head or neck", + "Abnormal skull morphology", + "decreased number of hematopoietic cell", + "skeleton of lower jaw", + "Abnormal brain morphology", + "testis phenotype", + "mandible", + "location of anatomical entity phenotype", + "limb skeleton subdivision", + "skull", + "bone of pectoral complex", "decreased length of anatomical entity", - "abnormal cellular process", - "heart", - "abnormal manual digit morphology in the manus", + "primary subdivision of cranial skeletal system", + "homeostatic process phenotype", + "Abnormality of limb bone", + "central nervous system", + "decreased length of forelimb bone", + "decreased length of bone element", + "limb long bone morphology phenotype", + "increased biological_process in skin of body", + "localised anatomical entity", + "decreased size of the multicellular anatomical structure", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "zeugopodial skeleton", + "limb long bone", + "forelimb long bone", + "Abnormal forearm morphology", + "Anemia", + "Abnormality of the hand", "radius bone", - "abnormal DNA metabolic process", - "organic substance metabolic process", - "Abnormal cellular physiology", - "acropodium region", - "regulation of biological process", - "changed developmental process rate", - "lateral structure", - "Non-obstructive azoospermia", - "biological regulation", - "regulation of cellular biosynthetic process", - "forelimb zeugopod skeleton", - "abnormal limb morphology", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "abnormality of renal system physiology", - "quality", - "Small thenar eminence", - "obsolete cellular nitrogen compound metabolic process", - "organelle organization", - "regulation of gene expression", - "abdomen element", - "negative regulation of cellular metabolic process", - "appendicular skeletal system", - "anatomical structure", - "Abnormal anus morphology", - "protein-DNA complex organization", - "arm", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal manus", + "Limb undergrowth", + "radius endochondral element", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "camera-type eye", + "decreased length of skeletal element", + "Abnormality of the orbital region", + "forelimb zeugopod bone hypoplasia", + "decreased size of the organ", + "decreased size of the endochondral bone", + "forelimb zeugopod", + "decreased size of the bone of pectoral complex", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "decreased size of the bone of free limb or fin", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased length of anatomical structure", + "renal/urinary system phenotype", + "forelimb bone", + "anatomical entity hypoplasia", + "axial skeleton plus cranial skeleton", + "decreased size of the limb bone", + "oxygen accumulating cell", + "multi-tissue structure", + "limb long bone phenotype", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "nervous system", + "forelimb zeugopod bone", "appendage girdle complex", - "macromolecule metabolic process", - "Abnormality of digestive system morphology", - "thenar eminence", - "abnormal limb", - "manus", - "abnormal biological_process", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "negative regulation of gene expression", - "Abnormality of the digestive system", - "regulation of macromolecule metabolic process", - "Abnormal long bone morphology", - "skeleton of limb", - "pectoral appendage musculature", - "abnormal metabolic process", - "external male genitalia", - "chromatin organization", - "muscle structure", - "material anatomical entity", - "biological_process", - "abdominal segment element", - "abnormal thenar eminence", + "subdivision of head", + "decreased length of multicellular anatomical structure", + "digestive system element", + "radius bone phenotype", + "Abnormality of the head", + "multi organ part structure phenotype", "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "Hypoplasia of the radius", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "abnormal cellular metabolic process", - "All", - "anatomical collection", - "abnormal programmed DNA elimination by chromosome breakage", - "process", - "nucleic acid metabolic process", - "zeugopod", - "skeletal element", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal upper urinary tract", - "musculoskeletal system", - "Limb undergrowth", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "long bone", - "primary metabolic process", - "decreased length of long bone", - "skeletal system", - "abnormal size of multicellular organism", - "bone element", - "endochondral element", - "multi-limb segment region", - "Opisthokonta", - "paired limb/fin segment", - "abnormal cardiovascular system morphology", - "bone element hypoplasia in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "subdivision of digestive tract", - "delayed biological_process", + "decreased length of mesoderm-derived structure", + "decreased length of forelimb zeugopod bone", + "size of palpebral fissure phenotype", + "forelimb bone phenotype", "Short forearm", - "limb endochondral element", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "mesoderm-derived structure", - "cell", - "Abnormality of the upper limb", - "limb", - "aplasia or hypoplasia of skeleton", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "Upper limb undergrowth", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "manual digit plus metapodial segment", - "abnormal radius bone morphology", - "system", + "regulation of cellular biosynthetic process phenotype", + "subdivision of digestive tract", + "decreased length of material anatomical entity", + "neural crest-derived structure", + "digestive system element phenotype", + "decreased size of the long bone", + "decreased size of the material anatomical entity", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "decreased size of the forelimb bone", + "Abnormal size of the palpebral fissures", + "delayed growth", + "arm bone phenotype", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "decreased size of the arm bone", + "Abnormality of the genitourinary system", + "blood cell", + "head bone", + "decreased size of the bone of appendage girdle complex", + "bone of craniocervical region phenotype", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "increased volume of anatomical entity", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "membrane bone", + "bone of pectoral complex morphology phenotype", + "organ", + "decreased size of the anatomical structure", + "decreased length of forelimb endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "U-shaped anatomical entity", + "long bone phenotype", + "olfactory organ phenotype", + "reproductive organ", + "Short long bone", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "face morphology phenotype", "aplasia or hypoplasia of manual digit 1", - "subdivision of skeleton", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "anatomical system", - "anal region", - "paired limb/fin skeleton", - "compound organ", + "dermal skeleton", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "multi organ part structure", + "multi-limb segment region phenotype", + "hemolymphoid system", + "male reproductive organ", + "disconnected anatomical group", + "eyelid morphology phenotype", + "orifice phenotype", + "palpebral fissure phenotype", + "non-connected functional system", + "orifice", + "decreased size of the endochondral element", + "orbital region", + "Blepharophimosis", + "face phenotype", + "camera-type eye morphology phenotype", + "Abnormality of the palpebral fissures", + "ocular adnexa phenotype", + "Abnormal eyelid morphology", + "Abnormal ocular adnexa morphology", + "decreased system process", + "organ part", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "eyelid", + "ocular adnexa", + "decreased size of the material anatomical entity in the pectoral complex", + "Abnormality of the face", + "shape of continuant phenotype", + "anucleate cell", + "reproductive structure phenotype", + "nucleate cell", + "eukaryotic cell", + "craniofacial/craniocervical phenotype", + "serotonin secreting cell", + "anatomical point", + "decreased number of anatomical entity", "obsolete cell", - "zeugopodial skeleton", - "limb long bone", - "Abnormality of the urinary system", - "forelimb bone", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "manual digit", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormal appendicular skeleton morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "digit 1", - "aplasia or hypoplasia of manual digit", - "organism", - "autopod region", - "digit plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "manual digit 1 plus metapodial segment", - "cardiovascular system", + "programmed DNA elimination", + "decreased length of long bone", + "anatomical entity morphology phenotype", + "digestive system", + "platelet", + "Ectopic kidney", + "immune system morphology phenotype", + "cavitated compound organ", + "Abnormal leukocyte count", + "Abnormal cellular phenotype", + "integument", + "platelet phenotype", + "number of myeloid cell phenotype", + "number of platelet phenotype", + "Abnormal immune system morphology", + "decreased number of material anatomical entity", + "decreased number of myeloid cell", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "number of anatomical enitites of type anatomical structure phenotype", + "Abnormal bone marrow cell morphology", + "digestive system phenotype", + "Abnormal platelet count", + "subdivision of head phenotype", + "blood cell phenotype", + "limb bone phenotype", + "secretory cell", + "hematopoietic system phenotype", + "forelimb zeugopod bone morphology phenotype", + "tissue", + "leukocyte", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "upper urinary tract", + "decreased length of digit", + "Abnormality of the male genitalia", "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "anterior region of body", - "aplastic anatomical entity", - "abnormal autopod region morphology", - "bone of free limb or fin", - "Absent thumb", - "pectoral appendage skeleton", - "abnormal manus morphology", - "skeleton of manus", - "abnormal digit morphology", - "digit 1 plus metapodial segment", - "agenesis of anatomical entity", - "Abnormality of the hand", - "Abnormal finger morphology", - "cellular process", - "Abnormal digit morphology", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "absent anatomical entity", - "Short thumb", - "abnormal manual digit 1 morphology", - "abnormal manual digit morphology in the independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "primary circulatory organ", + "Abnormality of blood and blood-forming tissues", + "organ phenotype", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "decreased length of organism subdivision", + "bone of lower jaw", + "mandible hypoplasia", + "anatomical structure physiology phenotype", + "facial bone phenotype", + "Abnormality of the digestive system", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "digestive system morphology phenotype", + "decreased size of the autopodial extension", + "Abnormal jaw morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "increased size of the olfactory organ", + "decreased length of autopodial extension", + "organ part phenotype", + "cell phenotype", + "anatomical entity hypoplasia in face", + "skull phenotype", + "Abnormal digestive system morphology", + "decreased length of limb endochondral element", + "dentary phenotype", + "jaw skeleton morphology phenotype", + "digestive tract", + "limb bone", + "subdivision of digestive tract phenotype", + "U-shaped kidney", "digit 1 or 5", - "abnormal male reproductive organ morphology", - "autopodial skeleton", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "Finger aplasia", - "pectoral complex", - "trunk region element", + "bone of jaw", + "manus morphology phenotype", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "biological_process", + "genitourinary system phenotype", + "mouth morphology phenotype", + "neural crest-derived structure phenotype", + "decreased size of the orifice", + "immune system", + "facial bone", + "gonad", + "localised gonad", + "Upper limb undergrowth", + "Abnormality of thrombocytes", + "jaw skeleton", + "lateral structure phenotype", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "mandible phenotype", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", + "mandible morphology phenotype", + "bone of lower jaw phenotype", + "Abnormality of body height", + "tube", + "mouth phenotype", + "localised abdominal segment element", + "primary subdivision of skull", + "absent anatomical structure in the limb", + "dermal bone phenotype", + "subdivision of tube phenotype", + "Abnormal oral morphology", + "cell", + "Abnormality of the mouth", + "lower jaw region", + "Pancytopenia", + "subdivision of organism along appendicular axis phenotype", + "jaw region", + "localised anatomical structure", + "Abnormal reproductive system morphology", + "decreased length of bone of appendage girdle complex", + "Abnormal male external genitalia morphology", + "intramembranous bone", + "Abnormality of the genital system", + "testis", + "skull morphology phenotype", + "localised reproductive structure", + "Cryptorchidism", + "subdivision of tube", + "localised reproductive organ", + "male reproductive system", ], - "has_phenotype_count": 15, + "has_phenotype_count": 20, "highlight": None, "score": None, }, @@ -11356,7 +13552,7 @@ def autocomplete(): "full_name": None, "deprecated": None, "description": None, - "xref": ["DOID:0080757", "OMIM:134600"], + "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -11377,10 +13573,10 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ + "HP:0002749", "HP:0001942", "HP:0003648", - "HP:0001324", - "HP:0002749", + "HP:0003155", "HP:0002148", "HP:0000124", "HP:0003109", @@ -11388,17 +13584,17 @@ def autocomplete(): "HP:0002748", "HP:0034359", "HP:0003076", - "HP:0003155", + "HP:0000083", "HP:0003355", "HP:0004322", "HP:0003126", - "HP:0000083", + "HP:0001324", ], "has_phenotype_label": [ + "Osteomalacia", "Metabolic acidosis", "Lacticaciduria", - "Muscle weakness", - "Osteomalacia", + "Elevated circulating alkaline phosphatase concentration", "Hypophosphatemia", "Renal tubular dysfunction", "Hyperphosphaturia", @@ -11406,714 +13602,730 @@ def autocomplete(): "Rickets", "Impaired renal tubular reabsorption of phosphate", "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", + "Renal insufficiency", "Aminoaciduria", "Short stature", "Low-molecular-weight proteinuria", - "Renal insufficiency", + "Muscle weakness", ], "has_phenotype_closure": [ + "UPHENO:0002359", + "HP:0003011", + "UPHENO:0080555", + "HP:0001324", + "HP:0000093", + "CHEBI:16541", "CHEBI:37622", - "UPHENO:0068247", "UPHENO:0068565", - "CHEBI:16541", - "CHEBI:32988", - "CHEBI:15841", "CHEBI:16670", - "UPHENO:0020584", + "CHEBI:15841", + "UPHENO:0075195", + "UPHENO:0069327", "GO:0040007", - "UPHENO:0049874", "UPHENO:0081424", - "UPHENO:0000541", + "UPHENO:0069062", "UPHENO:0069254", - "UPHENO:0086132", - "UPHENO:0075195", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0000541", + "UPHENO:0049874", "UPHENO:0075159", - "UPHENO:0051670", - "CHEBI:35605", - "CHEBI:36587", - "UPHENO:0068538", - "UPHENO:0068040", - "UPHENO:0068169", "HP:0003355", - "CHEBI:24651", - "CHEBI:33575", - "UPHENO:0068495", + "CHEBI:33674", "UPHENO:0046286", - "CHEBI:33608", "UPHENO:0068144", - "UPHENO:0068091", + "UPHENO:0068169", "HP:0031980", + "CHEBI:33575", "CHEBI:33709", - "CHEBI:50047", - "HP:0004379", - "UPHENO:0081777", - "UPHENO:0068971", - "CHEBI:33695", - "UPHENO:0082943", - "PR:000064867", - "CHEBI:35352", - "UPHENO:0075666", - "CHEBI:51143", - "CHEBI:33694", - "UPHENO:0046362", - "HP:0012379", - "PR:000018263", + "CHEBI:33608", + "CHEBI:24651", + "CHEBI:72695", + "CHEBI:35605", + "HP:0025745", + "CHEBI:18133", + "CHEBI:36962", + "CHEBI:25806", + "UPHENO:0068054", + "CHEBI:35381", "UPHENO:0080658", "UPHENO:0000543", "HP:0003076", - "HP:0000002", - "HP:0033354", - "UPHENO:0068054", - "CHEBI:33285", - "CHEBI:50860", - "CHEBI:36962", - "CHEBI:25806", - "CHEBI:18133", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0051960", - "GO:0050801", - "BFO:0000003", - "HP:0002148", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0050080", - "GO:0001503", - "HP:0000118", - "UBERON:0001434", - "UBERON:0002204", - "HP:0011849", - "UPHENO:0048707", + "HP:0034359", + "UPHENO:0051191", + "GO:0003014", + "CHEBI:33917", + "HP:0011038", + "HP:0011036", + "UPHENO:0050106", + "UPHENO:0049703", + "UPHENO:0051280", "GO:0003008", - "HP:0004349", - "BFO:0000040", - "UPHENO:0082834", - "UPHENO:0034391", - "HP:0004360", - "UPHENO:0002964", - "UPHENO:0082542", - "HP:0000119", - "HP:0003330", - "HP:0034684", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "UPHENO:0082835", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", - "HP:0000093", - "GO:0055062", + "CHEBI:25367", + "HP:0011042", + "UPHENO:0089770", + "UPHENO:0089756", + "CHEBI:60242", + "CHEBI:36586", + "CHEBI:33521", + "CHEBI:24835", "UPHENO:0034253", + "UBERON:0005090", + "UBERON:0000468", "UBERON:0002417", "CHEBI:22314", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0068292", - "UBERON:0000468", - "UBERON:0005090", - "HP:0000083", - "GO:0032501", - "HP:0011804", - "UPHENO:0052008", + "HP:0004379", + "HP:0000079", + "CHEBI:50860", + "UPHENO:0068971", + "CHEBI:33695", + "GO:0001503", + "CHEBI:36357", + "PR:000018263", + "HP:0012379", + "BFO:0000020", + "UPHENO:0068491", + "CHEBI:36360", + "UPHENO:0066964", + "CHEBI:50047", + "HP:0012337", + "CHEBI:33675", + "UPHENO:0003047", + "CHEBI:33694", "CHEBI:23367", - "UPHENO:0076289", - "HP:0001324", - "UBERON:0011216", - "CHEBI:33504", + "PR:000064867", + "UBERON:0009773", + "HP:6000531", + "UPHENO:0068352", + "CHEBI:35352", + "UPHENO:0002963", + "HP:0100529", + "UBERON:0006555", "BFO:0000004", "UPHENO:0080352", "UBERON:0000179", - "UPHENO:0051635", - "UBERON:0000383", - "UPHENO:0001005", - "UPHENO:0004459", - "GO:0098771", - "UPHENO:0077821", - "CHEBI:36357", - "UBERON:0001630", - "HP:0033127", - "CHEBI:33259", - "UBERON:0001088", - "UPHENO:0002442", - "PATO:0000001", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0084653", - "UPHENO:0002320", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "UPHENO:0046283", - "HP:0011277", "CHEBI:33302", + "UPHENO:0002269", "UBERON:8450002", - "UPHENO:0051801", "CHEBI:60911", + "CHEBI:32988", + "UPHENO:0081581", "HP:0000001", - "UPHENO:0001002", - "CHEBI:60242", - "UPHENO:0086128", - "UPHENO:0049587", - "GO:0008152", + "GO:0070293", + "UBERON:0004111", + "UPHENO:0046383", + "HP:0032943", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0002731", + "UPHENO:0002426", "UPHENO:0046284", - "HP:0004348", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0075666", + "UPHENO:0002411", + "UPHENO:3000004", + "UPHENO:0002427", + "HP:0000119", + "UPHENO:0002964", + "UBERON:0001088", "HP:0012072", - "CHEBI:36080", - "UBERON:0006314", - "UBERON:0001015", - "CHEBI:37247", + "CHEBI:36587", + "UPHENO:0089294", + "UBERON:0004120", + "HP:0001939", + "GO:0008152", + "UPHENO:0002385", + "UPHENO:0049587", + "HP:0004360", + "CHEBI:51143", + "UPHENO:0002346", + "HP:0001942", "UPHENO:0068511", "BFO:0000002", - "HP:0001942", - "CHEBI:33238", - "UPHENO:0049628", - "UBERON:0000174", - "HP:0000924", - "BFO:0000020", - "UPHENO:0012541", - "UPHENO:0068491", - "CHEBI:36360", + "UPHENO:0002559", + "UPHENO:0049904", + "UBERON:0001434", + "UPHENO:0081777", + "UPHENO:0002636", + "UPHENO:0002525", + "UPHENO:0002870", + "CHEBI:33285", "UPHENO:0001003", - "HP:0003155", "UPHENO:0080556", + "HP:0003155", "HP:0002900", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0081550", + "UPHENO:0076703", + "UPHENO:0066939", + "UBERON:0002204", + "UPHENO:0002526", + "UPHENO:0068110", + "UBERON:0003103", + "UBERON:0001231", + "UPHENO:0002320", + "UPHENO:0084653", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000118", + "UBERON:0000178", + "HP:0004349", + "UPHENO:0082834", + "UPHENO:0003022", + "BFO:0000040", + "UBERON:0000174", + "HP:0000924", + "UPHENO:0034199", + "PR:000000001", + "UPHENO:0002976", + "UPHENO:0066954", + "HP:0003330", "UPHENO:0001001", - "CHEBI:24833", - "UBERON:0001008", - "CHEBI:33839", - "CHEBI:26079", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0002252", + "UBERON:0011216", + "UBERON:0001062", + "UBERON:0000062", + "HP:0011842", + "UBERON:0001630", + "HP:0033127", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", + "UPHENO:0048707", + "UPHENO:0004791", + "HP:0011849", + "UPHENO:0051763", + "GO:0008150", + "UPHENO:0066960", + "UPHENO:0005285", + "UPHENO:0002530", + "UBERON:0001015", + "UPHENO:0003088", + "BFO:0000015", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "CHEBI:60004", + "UPHENO:0002536", + "UPHENO:0076692", "GO:0042592", - "UPHENO:0082539", - "UPHENO:0082538", + "CHEBI:33582", + "UBERON:0000465", "UBERON:0000489", - "BFO:0000001", - "PR:000050567", - "CHEBI:59999", - "UPHENO:0080555", - "UBERON:0000178", - "UPHENO:0068094", - "UPHENO:0081546", - "UPHENO:0051640", - "UPHENO:0051280", - "HP:0032943", - "BFO:0000015", - "GO:0008150", - "UPHENO:0051763", - "UBERON:0001062", - "CHEBI:72695", - "UPHENO:0068064", - "HP:0001939", - "CHEBI:35381", + "UBERON:0000467", + "UBERON:0004765", + "CHEBI:15693", + "UPHENO:0081544", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "UPHENO:0051635", + "UBERON:0000383", + "HP:0011804", + "HP:0000083", + "GO:0032501", + "UBERON:0004211", + "UPHENO:0001002", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", + "HP:0002749", + "UPHENO:0002668", + "UPHENO:0082835", "CHEBI:64709", + "UPHENO:0002267", "UBERON:0003914", - "UPHENO:0079536", - "UPHENO:0024906", - "HP:0003011", - "HP:0012337", - "HP:0002749", - "CHEBI:23906", - "UPHENO:0068089", - "HP:0011842", - "UPHENO:0075696", + "HP:0002148", + "HP:0032180", + "CHEBI:33318", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33241", + "BFO:0000001", + "UPHENO:0002554", + "UBERON:0002193", + "UPHENO:0002422", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", "HP:0001871", - "UPHENO:0002536", - "UPHENO:0076692", - "UBERON:0001231", - "UPHENO:0068110", - "UBERON:0003103", - "UBERON:0004111", - "GO:0070293", - "UBERON:0000062", - "UPHENO:0082875", - "UBERON:0001474", - "UBERON:0002100", - "CHEBI:28358", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "UPHENO:0051960", + "UPHENO:0066739", + "UPHENO:0075902", "HP:0001507", "CHEBI:37577", "HP:0001510", "HP:0003109", - "HP:0012591", - "HP:0000079", - "CHEBI:60004", - "CHEBI:33241", - "CHEBI:26082", - "HP:0100529", - "UPHENO:0034217", - "CHEBI:24870", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", + "UPHENO:0051900", + "CHEBI:33238", + "CHEBI:33259", + "HP:0011277", + "UPHENO:0046283", "UBERON:0000064", - "CHEBI:33675", - "UBERON:0002193", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0051937", - "UPHENO:0049904", - "UPHENO:0066739", - "UPHENO:0075902", - "CHEBI:33250", - "UBERON:0002113", - "HP:0032180", - "CHEBI:25367", - "HP:0011042", - "UBERON:0004120", - "CHEBI:17234", - "GO:0048878", - "HP:0040156", - "UBERON:0000463", - "CHEBI:26020", - "UPHENO:0002816", - "UBERON:0011143", - "HP:0011036", + "CHEBI:26082", + "UPHENO:0002287", + "UBERON:0004122", + "HP:0010935", + "UPHENO:0002246", + "UPHENO:0005141", + "UPHENO:0002859", "CHEBI:78616", "HP:0000077", - "UBERON:0013702", - "CHEBI:33304", - "HP:0010930", - "UPHENO:0051847", - "UBERON:0005177", - "UBERON:0005173", + "UPHENO:0002564", + "UBERON:0007684", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002909", "CHEBI:16646", "HP:0000124", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "GO:0003014", - "UBERON:0004819", - "UPHENO:0082543", "UBERON:0000483", - "CHEBI:24431", - "HP:0003111", - "CHEBI:33318", - "UBERON:0004122", - "HP:0010935", - "UBERON:0015212", + "UBERON:0005173", + "UPHENO:0066950", + "UPHENO:0066903", + "UBERON:0005177", + "UPHENO:0002210", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", "HP:0012211", - "UPHENO:0002411", - "UBERON:0000916", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0009773", - "HP:6000531", - "UPHENO:0068352", - "UBERON:0005172", + "UBERON:0015212", + "HP:0004348", + "UPHENO:0002311", + "UPHENO:0002308", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0009569", + "HP:0000002", + "HP:0033354", + "UPHENO:0066921", "HP:0001992", - "UBERON:0010000", "UPHENO:0051709", + "UBERON:0010000", "UBERON:0002390", "UPHENO:0066943", "HP:0004322", + "UPHENO:0002568", "CHEBI:26216", - "UPHENO:0049709", + "UPHENO:0082875", + "CHEBI:28358", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0003430", + "UPHENO:0002360", + "UPHENO:0024906", + "CHEBI:17234", + "UPHENO:0066946", + "CHEBI:24870", + "UPHENO:0003941", + "UPHENO:0002377", + "UPHENO:0002754", + "UBERON:0004819", + "UPHENO:0003094", + "HP:0012591", + "UPHENO:0066925", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0002248", + "UBERON:0000916", + "UPHENO:0002386", "PR:000003968", "UBERON:0000479", "UPHENO:0051686", "CHEBI:36915", + "UPHENO:0066959", + "UPHENO:0066913", "UBERON:0000475", + "UBERON:0013701", + "UBERON:0001285", "HP:0012599", - "UPHENO:0051898", - "PR:000000001", - "UPHENO:0034199", - "UBERON:0006555", - "GO:0055080", - "CHEBI:36914", - "CHEBI:36586", - "CHEBI:33521", - "UPHENO:0081544", - "CHEBI:15693", - "UPHENO:0051645", - "CHEBI:33296", + "UPHENO:0005201", "HP:0010929", - "UPHENO:0034438", - "CHEBI:26217", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0051930", - "CHEBI:33559", "UPHENO:0081547", - "CHEBI:25414", + "UBERON:0002113", + "CHEBI:33250", + "CHEBI:33559", + "UPHENO:0051645", + "CHEBI:36914", + "UPHENO:0079822", "UBERON:0000061", "CHEBI:36916", - "UPHENO:0079822", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0080659", - "CHEBI:25213", - "UPHENO:0051958", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "CHEBI:29103", - "HP:0003126", - "UPHENO:0002832", - "UPHENO:0002803", - "HP:0002748", - "UPHENO:0051191", - "HP:0034359", - "UBERON:0000465", - "CHEBI:33582", - "CHEBI:33917", - "HP:0011038", - "CHEBI:33674", - "UPHENO:0068058", ], "has_phenotype_closure_label": [ - "Renal insufficiency", - "non-functional kidney", - "non-functional anatomical entity", - "peptide", + "decreased muscle organ strength", + "muscle structure physiology phenotype", + "muscle structure phenotype", + "Abnormality of the musculature", + "muscle organ physiology phenotype", + "muscle organ", "increased level of protein polypeptide chain in urine", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "Low-molecular-weight proteinuria", - "abnormal independent continuant protein polypeptide chain level", - "carboxamide", + "peptide", "Abnormal urine protein level", - "Abnormality of body height", + "Low-molecular-weight proteinuria", "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the independent continuant", - "delayed growth", - "Growth delay", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", "growth", - "decreased size of the anatomical entity in the independent continuant", - "Growth abnormality", - "carboxylic acid", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "Elevated urinary carboxylic acid", - "increased level of organic acid in independent continuant", - "carbonyl compound", + "growth phenotype", + "decreased height of the anatomical entity", + "Growth delay", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "s-block molecular entity", "molecule", + "amino acid level phenotype", + "Elevated urinary carboxylic acid", "Organic aciduria", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of organic acid in urine", + "Abnormal urine amino acid level", "hydroxides", - "organic molecule", - "abnormal urine amino acid level", - "increased level of amino acid in urine", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of protein", - "protein", - "macromolecule", - "nitrogen molecular entity", - "protein-containing molecular entity", - "alkaline phosphatase, tissue-nonspecific isozyme", - "Abnormal circulating enzyme concentration or activity", - "organic amino compound", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", - "increased level of monosaccharide in urine", - "organic molecular entity", - "oxygen molecular entity", - "increased level of organic molecular entity in independent continuant", - "Abnormal urine metabolite level", - "Hypophosphatemia", - "monoatomic ion", - "decreased size of the anatomical entity", - "blood", - "inorganic ion", - "pnictogen molecular entity", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "organism substance", - "primary amide", - "elemental molecular entity", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "abnormal renal absorption", - "skeletal system", - "abnormal size of multicellular organism", - "bone element", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "abnormal anatomical entity mass density", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "epithelium", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "abnormal monoatomic cation homeostasis", - "abnormal bone element mass density", - "decreased role independent continuant level", - "skeletal element", - "increased level of rac-lactic acid in independent continuant", - "cavitated compound organ", - "Abnormality of the upper urinary tract", - "musculature of body", - "monoatomic cation", - "organ part", - "Muscle weakness", - "abdominal segment of trunk", - "decreased muscle organ strength", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", - "abnormal potassium atom level", - "abnormal renal system process", - "abnormal musculature", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "abnormality of muscle organ physiology", - "urine", - "anatomical system", - "Abnormal bone structure", - "potassium(1+)", - "abnormal blood chemical entity level", - "phosphate ion homeostasis", + "organic molecule", + "increased level of organic acid in urine", + "amino acid", + "carbonyl compound", + "carboxylic acid", + "urine amino acid level phenotype", + "Renal insufficiency", + "aldohexose", + "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", + "organooxygen compound", + "monosaccharide", + "urine glucose level phenotype", + "carbohydrates and carbohydrate derivatives", + "renal absorption", + "renal absorption phenotype", + "Abnormality of renal excretion", + "renal system process", + "cation", + "inorganic ion", + "decreased level of potassium atom in blood", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "role bodily fluid level phenotype", + "Abnormal blood monovalent inorganic cation concentration", + "potassium atom level phenotype", + "Hypophosphatemia", + "monoatomic ion", + "protein", + "macromolecule", + "organic molecular entity", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "heteroatomic molecular entity", + "tube phenotype", + "increased level of glucose in urine", + "blood phosphate level phenotype", + "nitrogen molecular entity level phenotype", + "body proper", + "alkaline phosphatase, tissue-nonspecific isozyme level phenotype", + "anatomical system phenotype", + "musculature phenotype", + "organic amino compound", + "material entity", + "Abnormality of alkaline phosphatase level", + "excretory system", + "abdomen element phenotype", + "alkaline phosphatase, tissue-nonspecific isozyme", + "nephron epithelium", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "polyatomic entity", "racemate", - "Aminoaciduria", - "organ system subdivision", - "abnormal genitourinary system", - "abnormal chemical homeostasis", + "renal system physiology phenotype", + "rac-lactic acid", + "amide", + "chemical entity level phenotype", + "trunk region element", + "chemical substance", + "organic oxo compound", + "excreta", + "Abnormality of the urinary system", + "Aciduria", + "renal system phenotype", + "metal atom", + "Abnormality of the urinary system physiology", + "increased level of chemical entity in urine", + "increased urine role level", "decreased anatomical entity strength", "mixture", "epithelial tube", - "chemical substance", + "Abnormality of acid-base homeostasis", + "tube", + "Metabolic acidosis", "chemical entity", - "increased independent continuant acid level", - "abnormal blood monoatomic ion level", - "increased bodily fluid acid level", - "process", - "All", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "increased level of amino acid in independent continuant", - "Abnormality of the musculature", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal role urine level", - "abnormal chemical entity level", - "increased level of rac-lactic acid in urine", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "abnormal urine glucose level", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "multicellular anatomical structure", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Abnormality of the genitourinary system", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", + "Short stature", + "inorganic molecular entity", "Acidosis", - "material entity", - "abnormal independent continuant potassium atom level", + "upper urinary tract phenotype", + "increased level of chemical entity", + "inorganic cation", + "alkali metal atom", + "bone element mass density phenotype", + "Abnormal blood cation concentration", + "Growth abnormality", + "anatomical entity morphology phenotype", + "Abnormal skeletal morphology", + "skeletal system phenotype", + "carbon group molecular entity", + "main group molecular entity", + "Elevated circulating alkaline phosphatase concentration", "protein polypeptide chain", + "system process phenotype", "continuant", - "nephron", "amino acid chain", + "anatomical system physiology phenotype", "tissue", - "monoatomic ion homeostasis", - "abnormal urine chemical entity level", - "biomacromolecule", - "p-block molecular entity", - "inorganic cation", - "increased level of chemical entity", - "renal absorption", - "homeostatic process", - "Abnormal enzyme concentration or activity", - "organochalcogen compound", + "nephron", + "skeletal element", + "cavitated compound organ", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "muscle organ phenotype", + "anatomical structure", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical conduit", "Abnormal muscle physiology", + "organochalcogen compound", "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "oxygen molecular entity", + "urine chemical entity level phenotype", + "Abnormality of the musculoskeletal system", + "musculature of body", + "Abnormal bone structure", + "anatomical system", + "role urine level phenotype", + "muscle structure", + "material anatomical entity", + "entity", + "metabolic process", "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", + "taxon specific phenotype", "Abnormal blood ion concentration", + "multicellular organismal process phenotype", "increased level of alkaline phosphatase, tissue-nonspecific isozyme", "main group element atom", - "carbon group molecular entity", - "metabolic process", - "bodily fluid", - "abnormal urine phosphate level", - "abnormal acid bodily fluid level", - "organic oxo compound", - "excreta", - "monoatomic monocation", - "Abnormality of the urinary system physiology", + "Abnormal renal tubular resorption", + "renal/urinary system phenotype", + "anatomical entity", + "p-block molecular entity", + "biomacromolecule", + "Hypokalemia", + "anatomical structure phenotype", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "renal tubule phenotype", + "nephron tubule phenotype", + "Abnormality of the skeletal system", + "Impaired renal tubular reabsorption of phosphate", + "hematopoietic system", + "multicellular organism", + "abdominal segment element physiology phenotype", + "protein-containing molecular entity", + "tissue phenotype", + "Aminoaciduria", + "organ system subdivision", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "process", + "bone element", + "mesoderm-derived structure phenotype", + "Lacticaciduria", + "multicellular anatomical structure phenotype", + "anatomical entity physiology phenotype", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "skeletal system", + "lateral structure physiology phenotype", + "Abnormality of metabolism/homeostasis", + "decreased size of the anatomical entity", + "blood", + "heteroorganic entity", + "multicellular organismal process", + "Muscle weakness", + "organ part", + "multicellular anatomical structure", + "specifically dependent continuant", "organ", "occurrent", - "abnormal anatomical entity", - "Metabolic acidosis", - "decreased level of potassium atom in blood", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", + "All", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "anatomical entity height phenotype", + "atom", "carbohydrate", - "increased bodily fluid role level", "biological_process", "renal tubule", - "genitourinary system", - "atom", - "muscle structure", - "material anatomical entity", - "abnormal growth", + "nitrogen molecular entity", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", + "epithelial tube physiology phenotype", + "potassium atom", + "musculoskeletal system", + "hydrogen molecular entity", + "nephron tubule", + "anatomical entity phenotype", + "organonitrogen compound", "independent continuant", - "abnormal renal system", + "skeletal element phenotype", + "organ phenotype", + "bodily fluid", + "material anatomical entity phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "excretory tube phenotype", + "upper urinary tract", + "Abnormality of urine homeostasis", + "decreased functionality of the kidney epithelium", "Phenotypic abnormality", "Hyperphosphaturia", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", - "renal system", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "Abnormality of the urinary system", - "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "abnormal role bodily fluid level", - "abnormal biological_process", - "potassium atom", - "trunk", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "polyatomic entity", - "ion", - "phosphorus molecular entity", - "chemical homeostasis", - "heteroatomic molecular entity", - "abnormal acid independent continuant level", - "monoatomic entity", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "multicellular organismal process", - "abnormal blood phosphate level", + "homeostatic process phenotype", + "trunk region element physiology phenotype", + "material anatomical entity physiology phenotype", + "urine phosphate level phenotype", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "information biomacromolecule", + "decreased size of the material anatomical entity", + "abdominal segment element phenotype", + "biological_process phenotype", "organic acid", "ossification", "Abnormal circulating metabolite concentration", + "size of anatomical entity phenotype", + "phenotypic effect", + "organ physiology phenotype", "main body axis", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormality of renal system physiology", + "organism substance", + "Rickets", + "hemolymphoid system", + "Abnormal urine pH", + "bone element phenotype", + "decreased functionality of the epithelial tube", + "haemolymphatic fluid", + "phosphate", + "primary amide", + "elemental molecular entity", + "ion", + "increased level of rac-lactic acid in urine", + "blood chemical entity level phenotype", + "blood potassium atom level phenotype", + "hematopoietic system phenotype", "quality", "phosphoric acid derivative", - "Elevated circulating alkaline phosphatase concentration", - "abnormality of kidney physiology", - "main group molecular entity", - "haemolymphatic fluid", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "abnormal homeostatic process", + "Abnormal urine carboxylic acid level", + "system process", + "decreased level of chemical entity", + "decreased level of chemical entity in blood", + "genitourinary system phenotype", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "phosphorus molecular entity", + "tissue physiology phenotype", + "trunk", + "Proteinuria", + "protein-containing material entity", + "phosphate level phenotype", + "blood cation level phenotype", + "blood monoatomic ion level phenotype", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "monoatomic entity", + "subdivision of trunk", + "decreased functionality of the nephron tubule", + "chalcogen molecular entity", + "Abnormal renal physiology", + "kidney physiology phenotype", + "organ system subdivision phenotype", + "epithelium phenotype", + "lateral structure", + "decreased functionality of the excretory tube", + "abdomen element", + "epithelium physiology phenotype", + "decreased functionality of the material anatomical entity", + "epithelium", + "decreased functionality of the tube", + "Abnormality of the upper urinary tract", + "tube physiology phenotype", + "cavitated compound organ phenotype", "Renal tubular dysfunction", - "trunk region element", - "musculoskeletal system", - "abnormal upper urinary tract", - "uriniferous tubule", - "subdivision of organism along main body axis", - "organism subdivision", - "hematopoietic system", - "multicellular organism", - "Impaired renal tubular reabsorption of phosphate", - "abnormal kidney", - "abdomen", - "excretory tube", + "decreased functionality of the renal tubule", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", + "homeostatic process", + "excretory tube physiology phenotype", + "decreased functionality of the tissue", "Abnormal blood phosphate concentration", "phosphorus oxoacids and derivatives", "kidney epithelium", "compound organ", - "lateral structure", - "Abnormality of urine homeostasis", - "upper urinary tract", - "kidney", - "aldose", - "glucose", + "abdominal segment of trunk", + "abdomen", + "increased level of amino acid in urine", + "compound organ phenotype", + "decreased functionality of the anatomical conduit", + "trunk region element phenotype", + "decreased functionality of the anatomical structure", "Abnormality of the kidney", - "chalcogen molecular entity", - "Abnormal renal physiology", - "nephron epithelium", - "Short stature", - "inorganic molecular entity", - "abnormally decreased functionality of the anatomical entity", - "carbohydrates and carbohydrate derivatives", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "aldohexose", + "excretory tube", + "decreased functionality of the multicellular anatomical structure", + "uriniferous tubule", + "epithelial tube phenotype", + "renal system process phenotype", + "anatomical entity dysfunction in independent continuant", + "nephron epithelium phenotype", + "decreased functionality of the epithelium", + "decreased functionality of the nephron epithelium", + "kidney", "oxoacid derivative", + "compound organ physiology phenotype", "increased level of phosphate in urine", - "Abnormal blood cation concentration", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "Abnormal blood monovalent inorganic cation concentration", - "elemental potassium", - "s-block molecular entity", + "anatomical conduit phenotype", + "blood monovalent inorganic cation level phenotype", "s-block element atom", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "carbon oxoacid", - "Abnormal blood potassium concentration", - "Hypokalemia", - "monoatomic cation homeostasis", - "cation", - "alkali metal atom", - "abnormal blood potassium(1+) level", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", "musculature", "decreased role blood level", - "hemolymphoid system", - "Rickets", - "abnormal independent continuant amino acid level", - "renal system process", - "anatomical entity", - "Abnormal renal tubular resorption", - "abnormal independent continuant chemical entity level", - "Abnormality of renal excretion", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", - "abnormal phosphate level", - "decreased level of chemical entity", - "system process", - "information biomacromolecule", - "Abnormal bone ossification", - "abdominal segment element", - "Glycosuria", - "monosaccharide", - "hexose", - "organooxygen compound", - "heteroorganic entity", - "body proper", - "increased level of glucose in urine", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "role blood level phenotype", + "monovalent inorganic cation", ], "has_phenotype_count": 16, "highlight": None, @@ -12126,7 +14338,7 @@ def autocomplete(): "full_name": None, "deprecated": None, "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.", - "xref": ["DOID:0111080", "GARD:16213", "OMIM:617243", "UMLS:C4310652"], + "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -12168,2095 +14380,2440 @@ def autocomplete(): "Short stature", ], "has_phenotype_closure": [ + "UPHENO:0000543", "HP:0000002", "GO:0040007", - "UPHENO:0049874", - "UPHENO:0081424", - "UPHENO:0000543", "HP:0001510", "HP:0001507", - "UPHENO:0012541", - "UPHENO:0088162", - "CL:0000329", - "CL:0000764", + "UPHENO:0081424", + "UPHENO:0069062", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0049874", "HP:0001877", "HP:0012130", + "CL:0000329", + "UPHENO:0088162", "GO:0005623", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", + "UPHENO:0049757", + "UPHENO:0050007", + "UPHENO:0050126", "GO:0010468", "GO:0010558", "GO:0031327", - "GO:0006325", - "UPHENO:0049748", - "GO:0031049", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "GO:0071840", + "UPHENO:0050065", + "UPHENO:0049642", "GO:0050794", "GO:0019222", "GO:0048519", - "GO:0006139", - "GO:1901360", - "GO:0043170", - "GO:0046483", - "UPHENO:0078606", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", "GO:0060255", - "GO:0009889", "GO:0048523", - "GO:0043933", - "UPHENO:0050845", - "CHEBI:33256", - "CHEBI:37622", - "CHEBI:50047", - "GO:0006725", - "UBERON:0001893", - "HP:0000924", - "HP:0010987", - "UPHENO:0081435", + "UPHENO:0050025", + "UPHENO:0050435", + "UPHENO:0049868", + "UPHENO:0050063", + "HP:0003220", + "GO:0031049", + "UPHENO:0078606", + "GO:0031052", + "GO:0009890", + "GO:0031324", + "HP:0003221", + "GO:0010629", + "UPHENO:0050040", + "CL:0000764", + "UPHENO:0050778", + "UPHENO:0081566", + "HP:0006254", + "UPHENO:0076799", + "UBERON:0000481", + "HP:0000152", + "UPHENO:0087907", + "GO:0031323", + "UBERON:0011138", + "UPHENO:0000541", + "HP:0001874", + "UPHENO:0069327", + "UBERON:0010323", + "HP:0012145", "UPHENO:0088170", - "GO:0044238", "UPHENO:0001001", - "UBERON:0034923", - "GO:0010605", - "GO:0009892", - "UPHENO:0080079", - "NCBITaxon:2759", - "HP:0004322", - "UBERON:0003129", - "UBERON:0001434", - "HP:0033127", - "UPHENO:0087123", - "UPHENO:0087089", - "HP:0000234", - "UPHENO:0088338", - "UBERON:0011676", - "UBERON:0000061", + "CHEBI:37622", + "HP:0040195", + "UPHENO:0001003", + "GO:0010556", + "PR:000050567", + "UPHENO:0080010", + "HP:0001911", + "UPHENO:0002764", + "PATO:0000001", "UPHENO:0075159", "HP:0100547", + "UPHENO:0075804", "UPHENO:0086019", "UPHENO:0011498", "UPHENO:0077822", - "UBERON:0011216", - "HP:0009121", - "CHEBI:15841", - "UPHENO:0020584", - "UPHENO:0087518", - "OBI:0100026", - "CL:0000766", - "HP:0002060", - "CL:0000988", - "BFO:0000020", - "HP:0011991", - "GO:0044237", - "HP:0002977", - "GO:0071704", - "CL:0000219", - "HP:0040012", - "UBERON:0004765", - "UBERON:0000467", - "UPHENO:0086005", + "UPHENO:0087123", + "HP:0011842", "UPHENO:0076703", - "UPHENO:0085354", - "PR:000018263", - "UBERON:0002193", - "CL:0001035", + "UPHENO:0063794", + "UPHENO:0049904", + "UPHENO:0077391", + "HP:0032251", + "UBERON:0001474", + "HP:0002011", + "UPHENO:0003004", + "UBERON:0002204", + "UPHENO:0049743", + "UPHENO:0001002", + "UBERON:0001434", + "UPHENO:0077418", + "UPHENO:3000000", + "HP:0009121", + "BFO:0000004", + "CHEBI:36962", + "UPHENO:0002948", + "CHEBI:33256", + "UPHENO:0076805", + "HP:0025461", + "UBERON:0034923", + "UBERON:0004288", "UPHENO:0081423", "UBERON:0015203", - "UPHENO:0022529", - "UBERON:0004120", - "UPHENO:0088166", - "BFO:0000001", - "UBERON:0007811", - "CL:0000255", - "CL:0000738", - "UPHENO:0049700", - "HP:0001911", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0002405", - "UBERON:0000179", - "GO:0006807", - "UPHENO:0006910", - "CL:0002242", - "GO:0010556", - "PR:000050567", - "UPHENO:0085076", - "BFO:0000003", + "CHEBI:36963", + "UPHENO:0002816", + "HP:0000001", "UPHENO:0085356", + "UPHENO:0002530", + "UBERON:0001893", + "UPHENO:0077399", + "UBERON:0001015", + "UPHENO:0077817", + "CL:0002242", "UPHENO:0076675", - "CHEBI:36962", - "UPHENO:0002948", + "UPHENO:0003025", "HP:0001871", - "HP:0011842", - "UPHENO:0075696", "CL:0000000", - "UPHENO:0086045", - "UBERON:0010323", "UPHENO:0086016", - "HP:0032251", - "UPHENO:0000541", - "HP:0001874", - "GO:0031323", - "UBERON:0011138", - "UPHENO:0004459", - "CL:0000233", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0076702", - "UBERON:0000481", - "UPHENO:0076799", - "CL:0000763", - "CL:0000458", - "HP:0000001", - "UPHENO:0051612", - "UPHENO:0085189", - "UPHENO:0076805", - "HP:0025461", - "CHEBI:33304", - "UBERON:0013702", - "HP:0001873", - "CHEBI:36963", - "GO:0090304", - "UPHENO:0015280", - "HP:0045056", - "HP:0025354", - "UPHENO:0082943", - "UPHENO:0085371", - "CL:0000457", - "UBERON:0000073", - "HP:0000929", - "UBERON:0000955", - "UPHENO:0085344", - "HP:0001881", "UBERON:0004121", - "UPHENO:0088335", - "GO:0006996", - "HP:0001939", - "HP:0032309", + "NCBITaxon:2759", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0002405", + "GO:0009892", + "GO:0010605", + "UPHENO:0080079", + "UPHENO:0077348", + "UPHENO:0002525", "GO:0065007", - "UPHENO:0085070", "HP:0010974", + "UPHENO:0002553", "HP:0012443", - "UPHENO:0088318", - "UPHENO:0084928", - "HP:0000118", - "UBERON:0000033", - "UBERON:0000178", + "UBERON:0011216", + "HP:0040012", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0000061", + "UPHENO:0085344", + "HP:0001881", "UPHENO:0063722", "HP:0001872", "HP:0032180", - "UPHENO:0086176", - "UPHENO:0004523", - "UPHENO:0002764", - "UPHENO:0085405", - "HP:0011875", + "HP:0000924", + "HP:0010987", + "UBERON:0000383", + "CL:0000766", + "UBERON:0011137", + "BFO:0000020", "HP:0430071", - "UPHENO:0085042", - "GO:0050789", - "UBERON:0013701", - "UPHENO:0001003", + "UPHENO:0002963", + "HP:0002715", + "UPHENO:0002736", + "CL:0001035", + "UBERON:0002193", + "CL:0002092", + "HP:0020047", + "HP:0011893", + "GO:0009889", + "UPHENO:0002548", + "PR:000064867", + "HP:0033127", + "UBERON:0000062", + "CL:0000219", "UPHENO:0080200", "UBERON:0001890", - "UPHENO:0046362", - "CL:0000094", - "HP:0007364", - "CHEBI:24431", "UBERON:0000468", - "UPHENO:0075195", - "GO:0034641", - "HP:0011893", - "PR:000064867", - "PATO:0000001", - "UBERON:0001062", - "UPHENO:0088321", - "UBERON:0010314", - "UPHENO:0085118", - "HP:0002715", - "UPHENO:0001002", - "UPHENO:0049587", - "UPHENO:0002844", - "NCBITaxon:33154", - "UPHENO:0076791", - "UPHENO:0086589", + "UPHENO:0085371", + "CL:0000457", + "HP:0025354", + "UBERON:0000178", + "UBERON:0000033", + "HP:0001875", + "UPHENO:0002964", + "UPHENO:0004459", + "CL:0000233", + "UPHENO:0080351", + "UPHENO:0076286", + "UBERON:0004120", + "HP:0000118", + "UPHENO:0011536", + "UBERON:0002371", "NCBITaxon:33208", "UPHENO:0076692", "UPHENO:0002536", - "UPHENO:0085984", - "CHEBI:51143", - "HP:0001875", - "UPHENO:0077426", + "UPHENO:0088166", + "BFO:0000001", + "UPHENO:0002554", + "CL:0000081", + "CHEBI:35352", + "UPHENO:0006894", + "UBERON:0010314", + "UBERON:0001062", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0003129", + "CL:0000738", + "UBERON:0000479", + "CL:0000255", + "UPHENO:0051612", + "UPHENO:0085354", + "PR:000018263", + "CHEBI:15841", + "UPHENO:0049775", + "HP:0032309", + "HP:0033405", + "BFO:0000040", + "UPHENO:0063787", "UBERON:0002390", "UBERON:0010000", "HP:0000252", - "UPHENO:0081566", - "HP:0006254", + "CL:0000763", + "CL:0000458", + "NCBITaxon:6072", "GO:0031326", "UBERON:0002090", "CHEBI:23367", - "UPHENO:0002964", - "UPHENO:0086172", - "HP:0000707", - "HP:0000152", - "UPHENO:0087907", + "UPHENO:0003001", + "UPHENO:0002746", + "UPHENO:0086176", + "UPHENO:0004523", "NCBITaxon:131567", - "UBERON:0011137", - "UBERON:0002204", - "UPHENO:0001005", - "HP:0040195", - "NCBITaxon:6072", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0051936", - "GO:0016043", - "HP:0002011", - "HP:0012145", - "BFO:0000002", - "HP:0012639", - "UPHENO:0051804", + "HP:0005561", + "UBERON:0000153", + "HP:0011991", + "UPHENO:0002902", + "UPHENO:0076791", + "UPHENO:0086589", + "UBERON:0011676", + "CHEBI:36357", + "UBERON:0001016", + "GO:0050789", + "UBERON:0013701", + "UPHENO:0050784", + "CL:0000094", + "HP:0007364", + "CHEBI:24431", + "NCBITaxon:33154", + "CL:0000988", + "HP:0002060", + "UPHENO:0087518", + "OBI:0100026", + "CHEBI:33304", + "UBERON:0013702", + "HP:0001873", + "UBERON:0007811", + "HP:0000234", + "UPHENO:0076702", + "UPHENO:0075195", "HP:0000240", "UBERON:0000475", - "HP:0001903", - "UPHENO:0088176", - "UBERON:0005944", - "UBERON:0034925", - "BFO:0000040", - "HP:0033405", + "UPHENO:0051804", + "UPHENO:0046383", + "BFO:0000002", + "HP:0012639", + "UPHENO:0089764", "CL:0000775", "UBERON:0000075", - "UPHENO:0051680", "CL:0000225", "UBERON:0010912", - "UBERON:0000062", - "UPHENO:0086049", - "HP:0011017", - "PR:000000001", + "HP:0000929", + "UBERON:0000955", + "UBERON:0000073", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0002926", + "UPHENO:0069254", + "UPHENO:0075220", "UPHENO:0086173", + "HP:0011875", + "HP:0002977", + "UPHENO:0089759", + "UPHENO:0085302", + "UPHENO:0077373", "CL:0000151", "CL:0000232", + "UPHENO:0011531", "HP:0011873", - "UPHENO:0085302", - "UPHENO:0084987", - "UPHENO:0048707", - "HP:0020047", - "CL:0002092", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0087355", - "UPHENO:0049873", - "UBERON:0000153", - "HP:0005561", - "UPHENO:0085195", - "UPHENO:0087339", - "GO:0006259", - "UBERON:0001474", - "UBERON:0002371", - "UBERON:0004288", - "UPHENO:0085144", "HP:0005528", - "UPHENO:0035025", - "UBERON:0000479", - "CHEBI:33839", - "UBERON:0006314", - "CHEBI:36080", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0085330", + "GO:0008152", + "UBERON:0000463", + "UPHENO:0081581", + "CHEBI:32988", + "CHEBI:33285", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:33694", + "UPHENO:0077826", + "PR:000003809", + "UPHENO:0046378", + "NCBITaxon:1", + "CHEBI:33302", "UBERON:0000465", "CHEBI:33582", "CHEBI:16670", - "NCBITaxon:1", - "UPHENO:0046378", - "CHEBI:33302", - "UPHENO:0076289", - "UPHENO:0077826", - "PR:000003809", + "CHEBI:50047", + "UPHENO:0049620", + "UBERON:0006314", + "CHEBI:36080", "UBERON:0002616", "UPHENO:0048751", - "UBERON:0001016", - "CHEBI:36357", - "UPHENO:0077821", - "UBERON:0000463", - "HP:0010876", - "UPHENO:0085330", - "GO:0008152", + "UPHENO:0051763", + "BFO:0000003", "UPHENO:0046284", - "CHEBI:33694", - "CHEBI:25806", - "CHEBI:50860", - "UPHENO:0051801", - "CL:0000081", - "CHEBI:35352", - "UPHENO:0085068", - "CHEBI:32988", - "GO:0009987", - "CHEBI:33285", + "HP:0045056", + "CHEBI:33579", + "UPHENO:0048707", "BFO:0000015", + "CHEBI:33839", + "HP:0011017", + "UPHENO:0002976", + "PR:000000001", "CHEBI:33675", + "HP:0001903", + "UBERON:0005944", + "UBERON:0034925", + "UPHENO:0088176", + "GO:0042592", "CHEBI:16541", "UPHENO:0068971", "CHEBI:33695", - "UPHENO:0051763", - "UBERON:0001017", - "UPHENO:0081547", - "UPHENO:0020888", - "UPHENO:0077813", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "HP:0001939", "GO:0008150", + "HP:0010876", "HP:0004364", ], "has_phenotype_closure_label": [ - "Abnormality of body height", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "decreased size of the anatomical structure", + "growth", "Short stature", - "delayed biological_process", - "delayed growth", + "decreased height of the anatomical entity", "Growth delay", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "abnormal erythroid lineage cell morphology", - "abnormal erythrocyte morphology", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "delayed biological_process", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "Anemia", "Abnormal erythrocyte morphology", - "programmed DNA elimination", - "obsolete cell", - "abnormal metabolic process", - "Growth abnormality", - "programmed DNA elimination by chromosome breakage", - "negative regulation of biosynthetic process", - "protein-DNA complex organization", + "erythrocyte morphology phenotype", + "erythroid lineage cell morphology phenotype", "regulation of macromolecule metabolic process", "regulation of biosynthetic process", + "negative regulation of cellular process", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "biological regulation", + "regulation of cellular biosynthetic process", + "negative regulation of cellular metabolic process", + "Chromosome breakage", + "negative regulation of biological process phenotype", + "regulation of cellular process phenotype", + "negative regulation of gene expression phenotype", + "regulation of metabolic process phenotype", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "negative regulation of biological process", + "obsolete cell", + "regulation of cellular biosynthetic process phenotype", + "programmed DNA elimination", + "aplasia or hypoplasia of telencephalon", + "multi-tissue structure", + "craniocervical region morphology phenotype", + "Abnormal neutrophil count", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "blood cell", + "anatomical structure", + "musculature of body", + "nitrogen molecular entity", + "decreased size of the multicellular organism", + "telencephalon morphology phenotype", + "immune system morphology phenotype", + "multicellular organism height phenotype", + "cranial skeletal system", + "nucleate cell", + "postcranial axial skeletal system", + "multicellular anatomical structure phenotype", + "decreased number of granulocyte", + "negative regulation of biosynthetic process", + "blood cell phenotype", + "neutrophil", + "cell", + "negative regulation of macromolecule metabolic process phenotype", + "Morphological central nervous system abnormality", + "independent continuant", + "Abnormal granulocyte morphology", + "anatomical collection", + "nervous system phenotype", + "All", + "mesoderm-derived structure phenotype", + "bone element", + "skull phenotype", + "biological regulation phenotype", + "Abnormality of skull size", + "multicellular anatomical structure", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "material entity", + "organic amino compound", + "decreased number of material anatomical entity", + "hemolymphoid system", + "number of myeloid cell phenotype", "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "abnormal cellular metabolic process", - "abnormal organelle organization", - "cellular process", - "regulation of cellular biosynthetic process", - "biological regulation", - "regulation of gene expression", - "chromatin organization", - "abnormal cellular process", - "abnormal chromatin organization", - "Chromosome breakage", - "regulation of cellular metabolic process", - "regulation of metabolic process", + "musculature phenotype", + "Abnormal nervous system morphology", + "anatomical system phenotype", + "Neutropenia", + "musculoskeletal system", + "hematopoietic cell", + "decreased size of the anatomical entity", + "blood", + "growth phenotype", + "Abnormal granulocyte count", + "non-connected functional system", + "neutrophil phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "organism subdivision", + "number of anatomical enitites of type anatomical structure phenotype", + "negative regulation of gene expression", + "Phenotypic abnormality", + "blood organic molecular entity level phenotype", "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "macromolecule metabolic process", - "obsolete cellular aromatic compound metabolic process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "Abnormal skeletal morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", + "craniofacial/craniocervical phenotype", + "decreased number of hematopoietic cell", + "skull morphology phenotype", + "biological_process", + "granulocyte", + "skeletal system phenotype", "Abnormal leukocyte morphology", - "Morphological central nervous system abnormality", - "cell", - "neutrophil", - "abnormal postcranial axial skeleton morphology", + "decreased number of leukocyte", "Abnormality of the skeletal system", - "Abnormal granulocyte count", - "abnormally decreased number of neutrophil", - "abnormal craniocervical region morphology", - "regional part of nervous system", - "forebrain", - "abnormal biological_process", - "abnormal role bodily fluid level", - "multi-tissue structure", - "abnormal skeletal system", - "anterior region of body", - "craniocervical region", - "haemolymphatic fluid", - "body proper", - "aplasia or hypoplasia of telencephalon", - "anatomical entity", - "abnormal phenotype by ontology source", + "decreased number of cell", + "erythrocyte", + "organ system subdivision", "immune system", "myeloid cell", "organonitrogen compound", + "anatomical entity phenotype", "root", - "mesoderm-derived structure", - "macromolecule", - "organism", - "anatomical system", - "abnormal hematopoietic cell morphology", - "Abnormal neutrophil count", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal skull morphology", - "increased level of protein", - "organism subdivision", - "abnormally decreased number of leukocyte in the independent continuant", - "negative regulation of cellular biosynthetic process", - "main group molecular entity", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal hematopoietic system", - "disconnected anatomical group", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal immune system", - "Abnormal leukocyte count", - "decreased size of the anatomical entity in the independent continuant", - "secretory cell", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "abnormally decreased number of granulocyte in the independent continuant", - "non-connected functional system", - "granulocyte", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular anatomical structure", - "Abnormality of neutrophils", - "Abnormality of skull size", - "quality", - "musculoskeletal system", - "Abnormal cell morphology", - "phenotype", - "Abnormal nervous system morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "bone element", - "abnormal cell", - "abnormal programmed DNA elimination by chromosome breakage", - "organochalcogen compound", - "oxygen accumulating cell", - "protein", - "abnormally decreased number of cell", - "oxygen molecular entity", - "nervous system", - "anatomical collection", - "All", + "chemical entity", + "structure with developmental contribution from neural crest phenotype", + "material anatomical entity", + "Abnormal platelet count", "Decreased head circumference", - "abnormal granulocyte morphology", - "abnormal brain morphology", + "Abnormal myeloid leukocyte morphology", + "skull", + "anatomical structure phenotype", + "Abnormality of the head", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "eukaryotic cell", + "hematopoietic system phenotype", + "ectoderm-derived structure phenotype", + "blood chemical entity level phenotype", + "blood oxygen molecular entity level phenotype", "Abnormal cellular immune system morphology", - "tissue", - "amino acid chain", - "abnormal axial skeleton plus cranial skeleton morphology", + "myeloid leukocyte", + "telencephalon phenotype", "organic molecular entity", "hematopoietic system", "multicellular organism", "primary amide", - "abnormal cell morphology", - "abnormal nervous system morphology", - "negative regulation of macromolecule biosynthetic process", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal alpha-fetoprotein level", - "material entity", - "organic amino compound", - "abnormal immune system morphology", - "protein-containing molecular entity", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal circulating organic compound concentration", - "nitrogen molecular entity", - "anatomical structure", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "myeloid leukocyte", - "biological_process", - "phenotype by ontology source", - "anucleate cell", - "abnormally decreased number of cell in the independent continuant", - "Neutropenia", - "structure with developmental contribution from neural crest", - "abnormal neutrophil", - "ectoderm-derived structure", - "abnormally decreased number of hematopoietic cell", - "pnictogen molecular entity", - "main body axis", - "regulation of macromolecule biosynthetic process", - "abnormally decreased number of granulocyte", - "Abnormal circulating metabolite concentration", - "abnormal nervous system", - "abnormal number of anatomical enitites of type neutrophil", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", - "abnormal DNA metabolic process", - "blood cell", - "chemical entity", - "abnormal myeloid cell morphology", - "erythrocyte", - "organ system subdivision", - "abnormal blood cell", - "eukaryotic cell", - "hematopoietic cell", - "abnormal blood alpha-fetoprotein level", - "hemolymphoid system", - "skeletal system", - "motile cell", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "Abnormal granulocyte morphology", "subdivision of organism along main body axis", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "Elevated circulating alpha-fetoprotein concentration", - "skull", - "Abnormality of brain morphology", + "material anatomical entity phenotype", + "blood nitrogen molecular entity level phenotype", + "anatomical entity", + "disconnected anatomical group", + "bone marrow", + "immune system phenotype", + "skeleton", + "postcranial axial skeleton", + "number of hematopoietic cell phenotype", + "subdivision of skeletal system phenotype", + "Abnormal myeloid cell morphology", + "number of anatomical enitites of type neutrophil phenotype", + "Abnormal leukocyte count", + "secretory cell", + "motile cell", + "skeletal system", + "regulation of cellular metabolic process phenotype", + "pnictogen molecular entity", + "Eumetazoa", + "Eukaryota", + "bone marrow cell", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "blood alpha-fetoprotein level phenotype", + "leukocyte morphology phenotype", + "decreased number of anatomical structure", + "regulation of gene expression phenotype", + "bone cell", + "polypeptide", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "size of skull phenotype", + "anatomical entity morphology phenotype", + "skeletal system morphology phenotype", + "cell phenotype", + "mesoderm-derived structure", + "macromolecule", + "granulocyte morphology phenotype", + "organism substance", + "taxon specific phenotype", + "regulation of macromolecule metabolic process phenotype", + "Bone marrow hypocellularity", + "skeletal element", + "regional part of nervous system phenotype", + "phenotype", + "Abnormal cell morphology", + "number of anatomical enitites of type material anatomical entity phenotype", "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", + "Abnormal bone marrow cell morphology", "information biomacromolecule", - "nucleate cell", - "postcranial axial skeletal system", - "material anatomical entity", - "Abnormal platelet count", - "abnormal platelet morphology", - "growth", - "abnormally decreased number of anatomical entity in the independent continuant", - "serotonin secreting cell", - "Opisthokonta", - "telencephalon", - "axial skeletal system", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormality of head or neck", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "abnormal bone marrow morphology", - "skeleton", - "bone marrow", + "number of anatomical enitites of type granulocyte phenotype", + "Abnormal cellular phenotype", + "negative regulation of cellular process phenotype", + "decreased number of anatomical entity", + "decreased number of platelet", + "quality", + "anatomical system", + "Abnormality of thrombocytes", + "number of cell phenotype", "cellular organisms", + "Abnormal brain morphology", "polyatomic entity", + "Abnormality of neutrophils", + "multi-tissue structure phenotype", + "central nervous system", + "tissue", + "amino acid chain", + "craniocervical region", + "haemolymphatic fluid", + "regulation of biosynthetic process phenotype", + "subdivision of organism along main body axis phenotype", + "homeostatic process phenotype", + "brain morphology phenotype", + "aplasia or hypoplasia of anatomical entity", + "protein-containing material entity", + "regional part of brain phenotype", + "forebrain", + "regional part of nervous system", + "organism", + "Microcephaly", + "Aplasia/Hypoplasia involving the central nervous system", + "head morphology phenotype", + "phenotypic effect", + "size of anatomical entity phenotype", + "regulation of biological process", + "nervous system morphology phenotype", + "telencephalon", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "central nervous system morphology phenotype", + "axial skeletal system", + "specifically dependent continuant", + "Abnormal cerebral morphology", "Metazoa", - "Abnormality of the nervous system", "axial skeleton plus cranial skeleton", - "decreased size of the anatomical entity", - "blood", - "postcranial axial skeleton", - "abnormal craniocervical region", - "Eumetazoa", - "Eukaryota", - "subdivision of skeleton", - "abnormal telencephalon morphology", - "central nervous system", + "Abnormality of the nervous system", + "organism subdivision phenotype", + "role blood level phenotype", + "nervous system", + "anterior region of body", + "myeloid leukocyte phenotype", + "main body axis", + "decreased size of the material anatomical entity", + "biological_process phenotype", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "Abnormal circulating metabolite concentration", + "multicellular organism morphology phenotype", + "Aplasia/Hypoplasia of the cerebrum", + "blood protein polypeptide chain level phenotype", + "musculature", + "decreased number of neutrophil", "regional part of brain", - "abnormal anatomical entity morphology in the independent continuant", "brain", - "abnormal size of skull", - "Abnormal forebrain morphology", - "Abnormality of the immune system", - "Thrombocytopenia", - "Abnormality of the head", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "abnormal blood chemical entity level", - "abnormal platelet", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "Bone marrow hypocellularity", - "skeletal element", - "Anemia", - "abnormal bone marrow cell", - "Abnormality of bone marrow cell morphology", - "bone cell", - "polypeptide", - "bone marrow cell", - "abnormal blood protein polypeptide chain level", - "abnormal hematopoietic system morphology", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abnormal role independent continuant level", - "abnormal number of anatomical enitites of type hematopoietic cell", - "process", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "DNA metabolic process", - "carboxamide", - "Abnormal circulating alpha-fetoprotein concentration", + "subdivision of skeleton", + "Abnormality of head or neck", + "Abnormal skull morphology", + "Opisthokonta", + "anucleate cell", + "platelet phenotype", + "programmed DNA elimination by chromosome breakage phenotype", + "bodily fluid", + "Abnormal immune system morphology", + "number of platelet phenotype", + "blood organic amino compound level phenotype", + "biogenic amine secreting cell", + "Chromosomal breakage induced by crosslinking agents", + "forebrain morphology phenotype", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "negative regulation of cellular biosynthetic process", + "main group molecular entity", "Abnormality of metabolism/homeostasis", - "abnormal role blood level", - "increased level of alpha-fetoprotein", - "abnormal head morphology", - "abnormal independent continuant protein polypeptide chain level", - "chalcogen molecular entity", "Abnormal cellular physiology", - "organic substance metabolic process", "increased level of chemical entity", - "organ", - "occurrent", - "Abnormality of multiple cell lineages in the bone marrow", - "carbon group molecular entity", - "abnormal independent continuant chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant alpha-fetoprotein level", - "abnormal independent continuant protein level", "head", + "chemical entity level phenotype", "amide", + "number of leukocyte phenotype", "platelet", "organooxygen compound", - "abnormal multicellular organism chemical entity level", - "abnormal chemical entity level", - "organism substance", - "biogenic amine secreting cell", - "cellular metabolic process", - "continuant", - "protein polypeptide chain", + "peptide", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "body proper", + "nitrogen molecular entity level phenotype", + "Abnormal circulating nitrogen compound concentration", + "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "serotonin secreting cell", + "homeostatic process", + "oxygen accumulating cell", + "protein", + "increased level of alpha-fetoprotein", + "Abnormal circulating alpha-fetoprotein concentration", "p-block molecular entity", "biomacromolecule", "heteroorganic entity", "Abnormal platelet morphology", "alpha-fetoprotein", - "entity", + "chalcogen molecular entity", + "role bodily fluid level phenotype", + "metabolic process", + "continuant", + "protein polypeptide chain", + "alpha-fetoprotein level phenotype", + "organ", + "occurrent", + "regulation of biological process phenotype", "subdivision of skeletal system", + "entity", "Abnormal circulating protein concentration", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal protein level", - "metabolic process", - "bodily fluid", - "abnormal blood nitrogen molecular entity level", + "decreased number of myeloid cell", "Abnormal circulating organic amino compound concentration", - "peptide", - "cellular component organization or biogenesis", + "process", + "craniocervical region phenotype", + "Elevated circulating alpha-fetoprotein concentration", ], "has_phenotype_count": 8, "highlight": None, "score": None, }, { - "id": "MONDO:0012565", + "id": "MONDO:0014987", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group N", + "name": "Fanconi anemia complementation group U", "full_name": None, "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.", - "xref": ["DOID:0111094", "GARD:15500", "MESH:C563657", "OMIM:610832", "UMLS:C1835817"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", + "xref": ["DOID:0111085", "GARD:16215", "MEDGEN:934618", "OMIM:617247", "UMLS:C4310651"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCN", - "Fanconi Anemia, complementation group type N", - "Fanconi anaemia caused by mutation in PALB2", - "Fanconi anaemia complementation group type N", - "Fanconi anemia caused by mutation in PALB2", - "Fanconi anemia complementation group N", - "Fanconi anemia complementation group type N", - "Fanconi anemia, complementation group N", - "PALB2 Fanconi anaemia", - "PALB2 Fanconi anemia", + "FANCU", + "Fanconi Anemia, complementation group U", + "Fanconi Anemia, complementation group type U", + "Fanconi anaemia caused by mutation in XRCC2", + "Fanconi anaemia complementation group type U", + "Fanconi anemia caused by mutation in XRCC2", + "Fanconi anemia complementation group type U", + "Fanconi anemia, complementation GROUP U", + "XRCC2 Fanconi anaemia", + "XRCC2 Fanconi anemia", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0000470", - "HP:0002984", 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"UPHENO:0025808", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UPHENO:0026095", + "UPHENO:0025545", + "UPHENO:0025955", + "UPHENO:0025883", + "UBERON:0001637", + "UPHENO:0025547", + "UPHENO:0008640", + "UBERON:0001436", "GO:0010468", - "UBERON:0012180", - "HP:0003221", - "UPHENO:0050116", - "UPHENO:0050021", - "UPHENO:0050121", - "UPHENO:0049990", + "UPHENO:0012440", + "UPHENO:0000541", + "UBERON:0010543", + "HP:0001507", + "UPHENO:0000543", + "UBERON:0005177", + "UPHENO:0087334", + "UBERON:0008785", + "UPHENO:0002668", + "HP:0000118", + "UBERON:0003834", + "HP:0010242", + "UBERON:0007100", + "UBERON:0003620", + "UPHENO:0033603", + "UBERON:0013630", + "UBERON:0034923", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0005181", ], "has_phenotype_closure_label": [ - "skin of head", - "eyelid", - "increased length of the epicanthal fold", - "ocular adnexa", - "abnormal zone of skin morphology", - "abnormal skin of face morphology", - "Abnormal eyelid morphology", - "abnormal skin of head morphology", - "upper eyelid", - "Abnormal ocular adnexa morphology", - "epicanthal fold", - "abnormal ocular adnexa", - "Abnormality of the ocular adnexa", - "absent anatomical entity in the renal system", - "Renal agenesis", - "absent kidney", - "Horseshoe kidney", - "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", - "Abnormal ventricular septum morphology", - "interventricular septum", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal interventricular septum morphology", - "delayed biological_process", - "Postnatal growth retardation", - "anatomical line", - "immaterial anatomical entity", - "abnormal location of eyeball of camera-type eye", + "Abnormality of the wrist", + "absent proximal mesopodial bone", + "Carpal bone aplasia", + "carpal bone phenotype", + "proximal mesopodial endochondral element phenotype", + "Aplasia/Hypoplasia involving the carpal bones", + "absent mesopodium bone", + "proximal mesopodial bone phenotype", + "absent proximal carpal endochondral element", + "aplastic carpal bone", + "mesopodium bone phenotype", + "skeletal joint phenotype", + "skeletal joint morphology in the pectoral complex phenotype", + "absent mesopodium bone in the limb", + "carpal region phenotype", + "absent proximal carpal bone", + "Abnormality of the scaphoid", + "carpal region", + "absent radiale", + "absent short bone in the limb", + "mesopodium region phenotype", + "carpus endochondral element", + "skeletal joint", "multi organ part structure", - "increased length of the anatomical line between pupils", - "Hypertelorism", - "increased anatomical entity length in independent continuant", - "Abnormality of globe location", - "tube", - "abnormal closing of the anatomical entity", - "Abnormality of the anus", - "digestive tract", - "anatomical entity atresia", - "abnormal integument", - "abnormal pigmentation in independent continuant", - "changed biological_process rate in independent continuant", - "absent kidney in the renal system", - "Hypermelanotic macule", - "Abnormality of skin morphology", - "abnormal skin of body", - "pigmentation", - "Macule", - "Abnormality of skin pigmentation", - "increased qualitatively biological_process", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "increased pigmentation in independent continuant", - "Localized skin lesion", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "integument", - "integumental system", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased biological_process in skin of body", - "increased biological_process", - "changed biological_process rate", - "limb long bone", + "carpal bone morphology phenotype", + "Absent scaphoid", + "proximal mesopodial bone", + "proximal carpal endochondral element", + "short bone", + "Abnormality of upper limb joint", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "absent autopod endochondral element in the limb", + "absent skeletal element in the metacarpus region", + "absent anatomical structure in the metacarpus region", + "absent carpus endochondral element in the limb", + "absent autopod bone in the metacarpus region", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Aplasia of the proximal phalanges of the hand", + "metapodium bone 1 phenotype", + "manual digit 1 metacarpus endochondral element phenotype", + "metacarpal bone morphology phenotype", + "manual digit bone phenotype", + "Abnormal finger phalanx morphology", + "absent metapodium bone", + "aplasia or hypoplasia of phalanx of manus", + "proximal carpal endochondral element phenotype", + "absent digitopodium bone", + "phalanx of manus phenotype", + "Abnormal metacarpal morphology", + "absent manual digitopodium bone in the metacarpus region", + "aplastic metacarpal bone of digit 1", + "absent endochondral bone in the metacarpus region", + "absent metacarpal bone in the metacarpus region", + "absent bone of appendage girdle complex in the metacarpus region", + "Aplasia of metacarpal bones", + "absent manus bone in the metacarpus region", + "manual digit 1 phalanx endochondral element phenotype", + "metapodium bone phenotype", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "metapodium bone 1", + "proximal phalanx", + "proximal phalanx of manus", + "Partial absence of thumb", + "Aplasia of the 1st metacarpal", + "autopod bone phenotype", + "absent anatomical entity in the metacarpus region", + "absent limb endochondral element in the metacarpus region", + "absent manus bone in the limb", + "manual digit phalanx endochondral element phenotype", + "autopod endochondral element phenotype", + "absent limb long bone in the metacarpus region", + "phalanx phenotype", + "absent manus bone", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "absent bone of pectoral complex in the metacarpus region", + "Abnormality of thumb phalanx", + "phalanx endochondral element", + "manual digit metacarpus endochondral element", + "manual digit phalanx endochondral element", + "absent long bone in the metacarpus region", + "proximal carpal bone", + "digitopodium bone phenotype", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "absent autopod bone in the limb", + "manual digit 1 metacarpus endochondral element", + "manual digit 1 phalanx phenotype", + "absent manual digit metacarpus endochondral element in the metacarpus region", + "metacarpal bone of digit 1", + "skeleton of manual acropodium", + "digitopodium bone", + "metapodium bone", + "skeleton of digitopodium", + "absent mesoderm-derived structure in the metacarpus region", + "absent metapodium bone in the metacarpus region", + "facial nerve", + "cranial neuron projection bundle", + "decreased muscle organ strength", + "Abnormal seventh cranial physiology", + "peripheral nervous system", + "neuron projection bundle", + "muscle structure physiology phenotype", + "lateral structure physiology phenotype", + "nerve phenotype", + "muscle organ phenotype", + "material anatomical entity physiology phenotype", + "multi cell part structure phenotype", + "muscle organ morphology phenotype", + "Cranial nerve paralysis", + "neuron projection bundle phenotype", + "axial musculature", + "face phenotype", + "Unilateral facial palsy", + "skeletal muscle organ, vertebrate phenotype", + "paralysed anatomical entity", + "Aplasia/Hypoplasia involving the metacarpal bones", + "Abnormality of facial soft tissue", + "metapodial skeleton", + "cranial neuron projection bundle phenotype", + "skeletal musculature", + "muscle structure", + "multicellular anatomical structure physiology phenotype", + "paralysed cranial nerve", + "cranial muscle phenotype", + "Abnormality of the musculature", + "Abnormal skeletal muscle morphology", + "cranial or facial muscle phenotype", + "cranial or facial muscle", + "Abnormal peripheral nerve morphology by anatomical site", + "Weakness of facial musculature", + "skeletal joint morphology phenotype", + "facial muscle", + "absent autopod endochondral element", + "craniocervical muscle", + "anatomical structure physiology phenotype", + "Abnormal cranial nerve physiology", + "peripheral nervous system phenotype", + "Abnormal nervous system physiology", + "muscle organ physiology phenotype", + "musculature of face", + "skeletal musculature of head", + "cranial nerve physiology phenotype", + "anatomical system physiology phenotype", + "aplastic manual digit 1 phalanx", + "muscle organ", + "craniocervical muscle phenotype", + "decreased anatomical entity strength", + "subdivision of head phenotype", + "nervous system physiology phenotype", + "manual digit bone", + "Abnormal morphology of the great vessels", + "material anatomical entity morphology in the heart phenotype", + "artery morphology phenotype", + "Abnormal heart morphology", + "Congenital malformation of the great arteries", + "systemic arterial system", + "Abnormal cardiovascular system morphology", + "vascular system", + "heart morphology phenotype", + "Abnormality of the vasculature", + "vessel phenotype", + "incomplete closing of the coronary vessel", + "cranial nerve", + "ductus arteriosus morphology phenotype", + "circulatory organ", + "Abnormality of the cardiovascular system", + "incomplete closing of the vessel", + "incomplete closing of the heart blood vessel", + "blood vessel morphology phenotype", + "incomplete closing of the multicellular anatomical structure", + "incomplete closing of the anatomical structure", + "incomplete closing of the systemic artery", + "anatomical conduit", + "incomplete closing of the ductus arteriosus", + "manual digit 1 phalanx", + "artery phenotype", + "anatomical cluster phenotype", + "trunk blood vessel", + "arterial blood vessel", + "great vessel of heart", + "anatomical cluster", + "carpus endochondral element phenotype", + "incomplete closing of the arterial blood vessel", + "trunk blood vessel phenotype", + "anatomical conduit phenotype", + "mesopodium region", + "aplasia or hypoplasia of metacarpal bone", + "systemic artery", + "phalanx", + "vasculature of organ", + "nerve", + "heart plus pericardium", + "vasculature of trunk", + "heart blood vessel", + "arterial system", + "disconnected anatomical group", + "great vessel of heart morphology phenotype", + "heart vasculature", + "ductus arteriosus", + "incomplete closing of the thoracic segment blood vessel", + "Abnormality of the peripheral nervous system", + "compound organ", "zeugopodial skeleton", - "regional part of nervous system", - "abnormal genitourinary system", - "Neoplasm", - "excretory system", - "abnormal kidney", - "abnormal central nervous system morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "Embryonal renal neoplasm", - "Abnormality of the upper urinary tract", - "Abnormality of the eye", + "absent carpus endochondral element", + "limb long bone", + "absent organ in the multicellular organism", + "blood vessel", + "outflow tract", + "Ectopic kidney", + "Abnormal renal morphology", + "localised abdominal segment element", + "genitourinary system", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "Abnormal localization of kidney", + "programmed DNA elimination by chromosome breakage", + "size of skull phenotype", "trunk region element", "pectoral complex", - "acropodium region", - "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal immune system morphology", - "compound organ", - "eye", - "autopodial skeleton", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 1 morphology", - "Short thumb", - "absent anatomical entity", - "absent anatomical entity in the independent continuant", - "regulation of biosynthetic process", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", - "cellular process", - "Hematological neoplasm", - "Medulloblastoma", - "agenesis of anatomical entity", - "digit", - "abnormal digit morphology", - "skeleton of manus", - "abnormal digit", - "cellular organisms", - "thoracic segment of trunk", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", + "subdivision of skeletal system", + "entity", + "manual digit 1 phalanx endochondral element", + "forelimb zeugopod bone morphology phenotype", + "renal system phenotype", + "absent endochondral bone in the limb", + "short bone phenotype", + "acropodial skeleton", + "Abnormal muscle physiology", + "autopod region morphology phenotype", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "Abnormality of the upper urinary tract", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "localised multicellular anatomical structure", + "gustatory system", + "main body axis", + "negative regulation of biological process phenotype", + "Abnormal cellular phenotype", + "segment of autopod", + "opening of the anatomical entity", + "cell phenotype", + "kidney phenotype", + "skeletal system morphology phenotype", + "cell", + "limb", + "Abnormality of the upper limb", + "skeletal element", + "zeugopod", + "regulation of biosynthetic process phenotype", + "cranial muscle", + "subdivision of organism along main body axis phenotype", + "absent limb bone in the limb", + "aplasia or hypoplasia of proximal phalanx of manus", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "negative regulation of macromolecule metabolic process phenotype", + "homeostatic process", + "cardiovascular system phenotype", + "localised abdomen element", + "Muscle weakness", + "digit phenotype", + "musculature phenotype", + "Abnormal finger morphology", + "aplasia or hypoplasia of radius bone", + "absent bone of pectoral complex in the forelimb", + "phalanx morphology phenotype", + "Eumetazoa", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "articular system", + "negative regulation of biological process", + "absent material anatomical entity in the limb", + "phalanx endochondral element phenotype", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "absent carpal bone in the limb", + "metacarpal bone", + "occurrent", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "endochondral bone phenotype", + "skeletal system phenotype", + "digit plus metapodial segment", + "appendage", + "anatomical entity phenotype", + "root", + "decreased length of organ", + "musculoskeletal system", + "localised anatomical structure", + "proximal mesopodial endochondral element", "Absent thumb", - "abnormal autopod region morphology", + "cavitated compound organ phenotype", + "mesopodium bone", + "bone of free limb or fin", "aplastic anatomical entity", - "abnormal anatomical entity morphology in the manus", + "incomplete closing of the trunk blood vessel", + "anterior region of body", "cardiovascular system", - "interatrial septum", - "abnormal manus", - "Nephroblastoma", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal appendicular skeleton morphology", - "manual digit", - "Abnormal eye morphology", - "Abnormal morphology of the radius", - "zone of skin", - "forelimb skeleton", - "genitourinary system", - "forelimb zeugopod", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal digestive system", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "paired limb/fin skeleton", - "arm", - "bone of appendage girdle complex", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "manual digit plus metapodial segment", - "macromolecule metabolic process", + "absent skeletal element", + "All", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "absent carpal bone", + "nervous system phenotype", + "Aplasia involving bones of the extremities", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "manual digit morphology in the manus phenotype", + "localised cavitated compound organ", + "systemic artery phenotype", + "forelimb zeugopod morphology phenotype", + "metacarpal bone of digit 1 phenotype", + "Upper limb undergrowth", + "skeleton of pectoral complex", + "paired limb/fin segment", + "absent multicellular anatomical structure", + "Opisthokonta", + "Eukaryota", + "negative regulation of cellular metabolic process", + "abdomen element", + "incomplete closing of the artery", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "proximal carpal bone phenotype", + "manual digit metacarpus endochondral element phenotype", + "arterial blood vessel phenotype", + "absent material anatomical entity in the multicellular organism", + "forelimb endochondral element", + "Phenotypic abnormality", + "carpal bone", + "negative regulation of gene expression", + "regulation of metabolic process phenotype", + "multicellular anatomical structure phenotype", + "bone element phenotype", + "Abnormal carpal morphology", + "mesopodial skeleton", + "multi-limb segment region phenotype", + "mesoderm-derived structure morphology in the heart phenotype", + "number of anatomical enitites of type endochondral bone phenotype", + "absent autopod bone", + "regulation of macromolecule metabolic process", + "upper limb segment phenotype", + "endochondral element phenotype", + "absent organ in the metacarpus region", + "organism subdivision phenotype", + "appendage phenotype", + "skeleton of limb", + "Aplasia involving forearm bones", + "negative regulation of cellular process phenotype", + "absent manual digit metacarpus endochondral element", + "anatomical entity morphology in the skeleton of manus phenotype", + "material anatomical entity", + "structure with developmental contribution from neural crest phenotype", + "incomplete closing of the anatomical entity", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "manual digitopodium bone phenotype", + "absent anatomical structure in the forelimb", + "aplasia or hypoplasia of manual digit 1", + "bone of pectoral complex phenotype", + "viscus", + "decreased size of the skeletal element", "appendicular skeleton", - "Unilateral renal agenesis", "upper limb segment", - "head or neck skin", - "abnormal forelimb zeugopod bone", + "multi cell part structure", + "limb phenotype", + "paired limb/fin skeleton", + "carpal skeleton", + "arm phenotype", + "thoracic cavity element", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "limb bone", + "absent bone element in the limb", + "absent forelimb endochondral element in the metacarpus region", + "segment of manus", + "protein-containing material entity", + "manual digit plus metapodial segment", + "limb endochondral element", + "absent limb bone", + "agenesis of anatomical entity", + "absent bone element in the metacarpus region", + "absent bone of free limb or fin in the limb", + "skeleton of manus", + "skeleton phenotype", + "absent forelimb endochondral element", + "manus bone", + "radius bone", + "Abnormality of the hand", + "nerve of head region", + "phenotype", + "Abnormal limb bone morphology", + "absent digit", + "arm", + "absent limb long bone in the forelimb", + "autopodial extension phenotype", + "manual digit", + "articulation phenotype", + "manual digitopodium bone", + "localised lateral structure", + "absent multicellular anatomical structure in the skeletal system", + "continuant", + "absent material anatomical entity in the forelimb", + "regulation of cellular process phenotype", + "forelimb zeugopod", + "absent organism subdivision in the multicellular organism", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "manus morphology phenotype", + "material anatomical entity phenotype", + "incomplete closing of the mesoderm-derived structure", + "forelimb long bone phenotype", + "skeletal system", + "paired limb/fin", + "metacarpus region", + "Hypoplasia of the radius", + "absent material anatomical entity in the metacarpus region", + "programmed DNA elimination by chromosome breakage phenotype", + "aplasia or hypoplasia of carpal bone", + "manus phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "cranial nerve phenotype", + "regulation of metabolic process", + "autopodial extension", + "manual digit 1", + "mesoderm-derived structure phenotype", + "decreased length of bone of appendage girdle complex", + "bone element", + "regulation of biological process", + "facial nerve phenotype", + "digit 1 phenotype", + "vessel", "lateral structure", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "aplasia or hypoplasia of skeleton", - "cardiac ventricle", - "abnormal craniocervical region", - "increased size of the anatomical entity", - "limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "cell", + "autopod bone", "mesoderm-derived structure", - "Anal atresia", - "limb endochondral element", - "Short forearm", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "bone element hypoplasia in independent continuant", - "leukocyte", - "appendicular skeletal system", - "multi-limb segment region", - "Abnormality of head or neck", - "organism", - "irregular bone", - "postcranial axial skeleton", - "digit plus metapodial segment", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "thoracic segment organ", + "absent forelimb long bone", + "organ system subdivision", + "metacarpus skeleton", + "nerve of head region phenotype", + "musculature", + "regional part of brain", + "number of anatomical enitites of type organism subdivision phenotype", + "blood vasculature", + "limb endochondral element phenotype", + "skeletal muscle organ, vertebrate", "anatomical structure", - "anatomical collection", - "All", - "decreased size of the anatomical entity in the independent continuant", - "bone element", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal anatomical entity", - "cervical vertebra endochondral element", - "decreased length of neck", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "aplastic manual digit 1", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", + "paired limb/fin phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "Abnormal hand morphology", + "Metazoa", + "taxon specific phenotype", + "absent manual digit", + "Abnormal thumb morphology", + "subdivision of trunk", + "limb segment", + "forelimb morphology phenotype", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", "independent continuant", - "abnormal leukocyte morphology", - "abnormal growth", - "Neoplasm by histology", - "endochondral element", - "abnormal neck", - "Abnormality of the neck", - "orifice", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "musculoskeletal system", - "abnormal cellular metabolic process", - "limb skeleton subdivision", - "skull", - "organ", - "abnormal cardiac septum morphology", - "occurrent", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", + "aplastic manual digit 1", + "absent bone of free limb or fin", + "articulation", + "Abnormality of facial musculature", + "anatomical entity morphology in the manus phenotype", "anatomical system", - "abnormal neck morphology", - "skeleton of limb", - "Abnormal forearm bone morphology", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "arm bone", - "increased pigmentation", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "entity", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "decreased length of anatomical entity", - "bone of pectoral complex", - "abnormal limb bone morphology", - "abnormal anatomical entity topology in independent continuant", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "thoracic segment organ", - "Abnormal cellular immune system morphology", - "skeletal element", - "zeugopod", - "U-shaped kidney", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "regulation of cellular biosynthetic process phenotype", + "limb bone morphology phenotype", + "decreased size of the forelimb endochondral element", + "Abnormal skeletal morphology", + "aplastic phalanx of manus", + "decreased size of the anatomical entity in the pectoral complex", "digit 1 or 5", - "dorsal part of neck", - "abnormal interatrial septum morphology", - "primary circulatory organ", - "Abnormal myeloid cell morphology", - "dorsum", - "cervical region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormal eyelid morphology", + "incomplete closing of the material anatomical entity", + "subdivision of skeletal system phenotype", + "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "bone of appendage girdle complex phenotype", + "negative regulation of metabolic process", + "nervous system morphology phenotype", + "manual digit 1 or 5", + "paired limb/fin segment phenotype", + "vascular system morphology phenotype", + "Abnormal digit morphology", + "negative regulation of cellular process", + "Aplasia/hypoplasia involving the skeleton", + "absent long bone", + "anatomical entity", + "phenotypic effect", + "size of anatomical entity phenotype", + "pectoral appendage skeleton", + "absent proximal mesopodial endochondral element", + "Aplasia/Hypoplasia involving the central nervous system", + "forelimb endochondral element phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "biological regulation", + "abdominal segment of trunk", "manus", - "subdivision of organism along main body axis", - "Neoplasm of the genitourinary tract", - "abnormal vertebral column", - "Abnormality of the vertebral column", - "bone of dorsum", - "bone marrow", - "Abnormal cardiac atrium morphology", - "abnormally decreased number of myeloid cell", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "vertebral column", - "telencephalon", - "abnormal opening of the anatomical entity", - "dorsal region element", - "Abnormality of skull size", + "Abnormality of limbs", + "muscle structure phenotype", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "arm bone", + "Abnormal joint morphology", "body proper", - "organ system subdivision", - "erythrocyte", - "abnormal blood cell", - "absent digit", - "nucleobase-containing compound metabolic process", - "phenotype", - "Abnormal cell morphology", - "main body axis", - "abnormal kidney morphology", - "quality", - "abnormal forelimb zeugopod morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "appendage", - "root", - "Malignant neoplasm of the central nervous system", - "abnormally decreased number of hematopoietic cell", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Microphthalmia", - "material anatomical entity", - "renal system", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", - "abnormal renal system", - "Peripheral primitive neuroectodermal neoplasm", - "abnormal anus", - "Neuroectodermal neoplasm", - "skeletal system", - "abnormal cardiac ventricle morphology", - "motile cell", - "manual digit 1 plus metapodial segment", - "abdomen", - "aplasia or hypoplasia of manual digit 1", + "absent limb endochondral element in the limb", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "multicellular organism morphology phenotype", + "absent forelimb bone in the metacarpus region", + "absent multicellular anatomical structure in the limb", + "regulation of cellular process", + "localised trunk region element", + "coronary vessel", + "digit morphology phenotype", + "aplasia or hypoplasia of skeleton", + "craniocervical region morphology phenotype", + "Abnormality of the skeletal system", + "number of anatomical enitites of type skeletal element phenotype", "system", - "circulatory system", - "bone marrow cell", - "continuant", - "neck bone", - "entire sense organ system", - "abnormal craniocervical region morphology", - "cervical vertebra", - "abnormal telencephalon morphology", - "Embryonal neoplasm", - "skeleton", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "craniocervical region", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "Abnormal thumb morphology", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "subdivision of vertebral column", - "absent manual digit", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "Abnormal finger morphology", - "abnormal digestive system morphology", - "abnormal forelimb morphology", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "Abnormal hand morphology", - "Metazoa", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "zone of organ", - "tissue", + "regulation of gene expression phenotype", + "brain morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "absent forelimb long bone in the metacarpus region", + "limb bone phenotype", "digitopodium region", "Aplasia/Hypoplasia of fingers", - "endochondral bone", - "Aplasia/Hypoplasia of the radius", - "neck", - "abnormal size of anatomical entity", - "Upper limb undergrowth", - "Abnormality of thrombocytes", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormality of the hand", - "radius bone", - "abnormal DNA metabolic process", - "forelimb zeugopod bone hypoplasia", - "skin of eyelid", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "subdivision of organism along appendicular axis", + "localised material anatomical entity", + "absent limb bone in the metacarpus region", + "absent organism subdivision", + "absent endochondral element in the metacarpus region", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "decreased length of bone of pectoral complex", + "skeleton", + "anatomical collection phenotype", + "quality", + "absent anatomical structure in the limb", + "blood vessel phenotype", + "decreased length of mesoderm-derived structure", + "negative regulation of macromolecule metabolic process", "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Abnormal neck morphology", - "negative regulation of gene expression", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "appendage girdle complex", - "subdivision of head", - "abnormal face", - "forelimb bone", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the pectoral complex", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "head", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "obsolete cellular aromatic compound metabolic process", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal limb bone", - "Abnormal nervous system morphology", - "sense organ", - "limb bone", - "Neuroblastoma", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "limb segment", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Nervous tissue neoplasm", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "Abnormality of limb bone morphology", - "manual digit 1", - "Decreased body weight", - "autopodial extension", - "regulation of metabolic process", - "regulation of cellular metabolic process", - "Abnormality of limbs", + "absent autopodial extension", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "regulation of biosynthetic process", + "bone of appendage girdle complex", + "digit 1 plus metapodial segment", + "Aplasia/hypoplasia involving bones of the extremities", + "absent mesoderm-derived structure", + "absent metacarpal bone", + "absent anatomical entity", + "process", + "Abnormality of metabolism/homeostasis", + "limb morphology phenotype", + "biological regulation phenotype", + "number of anatomical enitites of type anatomical structure phenotype", + "Abnormality of skull size", + "anatomical entity morphology in the pectoral complex phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "embryonic cardiovascular system", + "organism subdivision", + "craniocervical region musculature", + "regional part of brain phenotype", + "digit 1 or 5 phenotype", + "obsolete cell", + "anatomical entity morphology phenotype", + "decreased length of long bone", + "programmed DNA elimination", + "multi-limb segment region", + "Facial palsy", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "metacarpal bone of digit 1 morphology phenotype", + "anatomical system phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "radius bone morphology phenotype", + "absent radius endochondral element in the forelimb", + "renal system morphology phenotype", + "metacarpal bone phenotype", + "Chromosome breakage", + "trunk region element phenotype", + "Aplasia/Hypoplasia of the 1st metacarpal", + "lateral structure phenotype", + "negative regulation of gene expression phenotype", + "localised compound organ", "Abnormality of the kidney", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "blood cell", + "trunk", "Abnormality of the genitourinary system", "forebrain", - "Abnormality of the cardiovascular system", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "Renal neoplasm", - "Urinary tract neoplasm", - "abnormal anatomical entity morphology in the heart", - "Abnormal renal morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "abnormal nervous system", - "abnormal forebrain morphology", - "Neuroblastic tumor", - "multi-tissue structure", - "Aplastic anemia", - "abnormal nervous system morphology", - "Leukemia", - "abnormal cell morphology", - "abnormal anus morphology", - "Abnormality of the urinary system", + "excretory system", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "circulatory system", + "subdivision of organism along main body axis", + "renal system", "Morphological central nervous system abnormality", - "anus", - "Abnormal skull morphology", - "abnormal anatomical entity morphology in the brain", - "Primitive neuroectodermal tumor", - "visual system", + "Abnormality of the urinary system", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "upper urinary tract phenotype", + "biological_process", + "genitourinary system phenotype", + "absent multicellular anatomical structure in the metacarpus region", + "manual digitopodium region", + "upper urinary tract", + "absent bone of free limb or fin in the metacarpus region", + "regional part of nervous system", + "telencephalon morphology phenotype", + "skull phenotype", + "multi organ part structure phenotype", + "heart", + "coronary vessel morphology phenotype", + "Abnormality of the head", + "postcranial axial skeleton", + "absent radius endochondral element", + "regulation of macromolecule biosynthetic process phenotype", "Decreased head circumference", + "Abnormality of the nervous system", + "central nervous system morphology phenotype", + "Growth abnormality", + "cardiovascular system morphology phenotype", + "axial skeletal system", + "forebrain morphology phenotype", + "aplasia or hypoplasia of telencephalon", + "telencephalon phenotype", + "cellular organisms", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "manus bone phenotype", + "Abnormal morphology of the radius", + "craniocervical region", + "forelimb skeleton", + "head morphology phenotype", + "regional part of nervous system phenotype", + "ectoderm-derived structure phenotype", + "Abnormal axial skeleton morphology", + "telencephalon", + "structure with developmental contribution from neural crest", + "decreased length of limb bone", + "ectoderm-derived structure", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", "cranial skeletal system", - "abnormal head morphology", - "Pancytopenia", - "abnormal head", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", + "acropodium region", + "decreased size of the limb endochondral element", + "craniocervical region phenotype", + "brain", + "Abnormality of head or neck", + "Abnormal skull morphology", + "organ phenotype", + "absent bone of appendage girdle complex", + "skull morphology phenotype", + "Abnormal 1st metacarpal morphology", + "Abnormal brain morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "multicellular anatomical structure morphology in the heart phenotype", + "autopod endochondral element", "Abnormality of limb bone", + "homeostatic process phenotype", "central nervous system", - "skin of face", - "regional part of brain", + "absent organ in the forelimb", + "decreased length of bone element", + "limb long bone morphology phenotype", + "localised anatomical entity", + "decreased size of the multicellular anatomical structure", + "incomplete closing of the anatomical conduit", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Forearm undergrowth", + "decreased size of the anatomical entity", "forelimb long bone", - "abnormal size of skull", - "forelimb", - "Abnormal forebrain morphology", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "aplasia or hypoplasia of eyeball of camera-type eye", - "sensory system", - "anus atresia", - "Short long bone", - "abnormal skull morphology", - "abnormal immune system", - "Acute leukemia", - "camera-type eye", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "hemolymphoid system", - "nucleate cell", - "Neuroepithelial neoplasm", - "non-connected functional system", - "Abnormal immune system morphology", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Acute myeloid leukemia", - "Short digit", - "Abnormality of the immune system", - "immune system", - "disconnected anatomical group", - "abnormal cell", - "abnormal hematopoietic system", - "Neoplasm of the central nervous system", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "Ectopic kidney", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal cardiovascular system morphology", - "heart plus pericardium", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "organ part", - "abnormal incomplete closing of the anatomical entity", - "biological_process", - "cardiac atrium", - "vertebral element", - "viscus", - "circulatory organ", "Abnormal forearm morphology", - "vertebra", - "Small for gestational age", - "Abnormal heart morphology", - "abnormal cardiovascular system", - "paired limb/fin segment", - "septum", - "subdivision of skeleton", - "Abnormal cardiac septum morphology", - "aplasia or hypoplasia of radius bone", - "abnormal long bone morphology", - "abnormal heart morphology", - "abnormal incomplete closing of the interatrial septum", - "obsolete nitrogen compound metabolic process", - "abnormal cardiac atrium morphology", - "Short finger", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "cervical region of vertebral column", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "abnormally localised anatomical entity", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Abnormal anus morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "Abnormal localization of kidney", - "aplasia or hypoplasia of manual digit", - "cardiac chamber", - "face", - "abnormal orbital region", - "axial skeletal system", - "Growth abnormality", - "Pelvic kidney", - "abnormal pigmentation", - "heart", - "Abnormality of the head", - "organic substance metabolic process", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "abnormal renal system morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormality of the face", - "Abnormality of the orbital region", - "abnormal size of eyeball of camera-type eye", - "multicellular organism", - "Thrombocytopenia", - "regulation of macromolecule biosynthetic process", - "orbital region", - "abdominal segment of trunk", - "biological regulation", - "regulation of cellular biosynthetic process", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "decreased length of forelimb zeugopod bone", - "eyeball of camera-type eye", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "abnormality of anatomical entity mass", - "Short neck", - "Aplasia/Hypoplasia involving the central nervous system", - "decreased multicellular organism mass", - "Abnormal atrial septum morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormality of multicellular organism mass", - "Growth delay", + "Limb undergrowth", + "radius endochondral element", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "decreased length of skeletal element", + "decreased size of the material anatomical entity", + "decreased size of the long bone", + "forelimb zeugopod bone hypoplasia", + "decreased size of the bone of pectoral complex", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "aplasia or hypoplasia of manual digit 1 phalanx", + "decreased size of the bone of free limb or fin", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased length of anatomical structure", + "renal/urinary system phenotype", + "forelimb bone", + "anatomical entity hypoplasia", + "absent radius bone", + "axial skeleton plus cranial skeleton", + "decreased size of the limb bone", + "absent short bone", + "multi-tissue structure", + "limb long bone phenotype", + "nervous system", + "forelimb zeugopod bone", + "decreased length of multicellular anatomical structure", "kidney", - "abnormal biological_process", - "Decreased multicellular organism mass", - "abnormally decreased number of cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "myeloid cell", - "platelet", - "Abnormality of bone marrow cell morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "cardiac septum", - "anucleate cell", - "oxygen accumulating cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal myeloid cell morphology", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "cavitated compound organ", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "abnormal primary metabolic process", - "cellular component organization", - "obsolete cellular nitrogen compound metabolic process", - "postcranial axial skeletal system", - "organelle organization", - "negative regulation of biological process", - "regulation of cellular process", - "Chromosome breakage", - "abnormal chromatin organization", - "secretory cell", - "abnormal cellular process", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", + "Growth delay", + "radius bone phenotype", + "decreased length of forelimb zeugopod bone", + "forelimb bone phenotype", + "decreased length of limb endochondral element", + "Short forearm", + "delayed biological_process", + "decreased length of material anatomical entity", + "absent limb long bone", + "decreased size of the forelimb bone", + "Abnormal peripheral nervous system morphology", + "Abnormal upper limb bone morphology", + "Abnormal blood vessel morphology", + "decreased size of the arm bone", + "decreased size of the bone of appendage girdle complex", + "number of anatomical enitites of type bone element phenotype", + "Abnormal forearm bone morphology", + "absent autopod endochondral element in the metacarpus region", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "vasculature", + "bone of pectoral complex morphology phenotype", + "organ", + "decreased size of the anatomical structure", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the endochondral element", + "absent forelimb zeugopod bone", + "decreased length of forelimb endochondral element", + "metapodium region", + "Aplasia/hypoplasia involving forearm bones", + "long bone phenotype", + "forelimb zeugopod bone phenotype", + "absent arm bone in the forelimb", + "decreased length of endochondral bone", + "absent forelimb bone in the forelimb", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", + "peripheral nervous system morphology phenotype", + "Aplasia involving bones of the upper limbs", + "absent bone of appendage girdle complex in the limb", + "Abnormal cerebral morphology", + "limb segment phenotype", + "absent endochondral element in the limb", + "absent bone of pectoral complex in the limb", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "skull", + "absent material anatomical entity in the skeletal system", + "absent forelimb zeugopod bone in the forelimb", + "absent limb endochondral element in the forelimb", + "number of anatomical enitites of type organ phenotype", + "radiale", + "anatomical entity physiology phenotype", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "number of anatomical enitites of type endochondral element phenotype", + "Abnormal proximal phalanx morphology of the hand", + "absent limb bone in the forelimb", + "absent skeletal element in the limb", + "absent anatomical structure in the skeletal system", + "Patent ductus arteriosus", + "absent bone element", + "decreased size of the organ", + "decreased size of the endochondral bone", + "absent forelimb bone", + "absent manual digitopodium bone", + "absent organ", + "Absent radius", + "radiale phenotype", + "Absent forearm bone", + "Aplasia of the phalanges of the hand", + "subdivision of head", + "appendage girdle complex", + "absent mesoderm-derived structure in the forelimb", + "Abnormal appendicular skeleton morphology", + "absent bone element in the forelimb", + "absent endochondral element in the forelimb", + "absent forelimb bone in the limb", + "absent limb endochondral element", + "facial muscle phenotype", + "systemic artery morphology phenotype", + "absent organ in the limb", + "absent endochondral element", + "absent endochondral bone in the forelimb", + "skeleton of manual digitopodium", + "localised organ", + "primary circulatory organ", + "absent endochondral bone", + "autopod region phenotype", + "absent mesoderm-derived structure in the limb", + "absent radius bone in the forelimb", + "absent forelimb endochondral element in the limb", + "Short long bone", + "absent arm bone", + "manual digit 1 digitopodial skeleton", "regulation of gene expression", - "metabolic process", - "abnormal organelle organization", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal cellular component organization", - "protein-containing complex organization", - "nucleic acid metabolic process", - "abnormal limb", - "negative regulation of cellular process", - "shape kidney", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abnormal incomplete closing of the interventricular septum", - "regulation of macromolecule metabolic process", - "protein-DNA complex organization", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "material entity", - "long bone", - "negative regulation of biosynthetic process", - "abnormal metabolic process", - "digestive system", - "obsolete cell", - "decreased length of long bone", - "programmed DNA elimination", + "pectoral appendage", + "absent bone of appendage girdle complex in the forelimb", + "absent skeletal element in the forelimb", + "arm bone phenotype", + "delayed growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "growth phenotype", + "vasculature phenotype", + "decreased length of forelimb bone", + "anatomical structure morphology in the heart phenotype", + "anatomical entity morphology in the heart phenotype", + "Abnormal vascular morphology", + "absent digitopodium bone in the metacarpus region", + "forelimb", + "Abnormal forebrain morphology", + "incomplete closing of the blood vessel", + "absent bone of free limb or fin in the forelimb", + "artery", + "localised kidney", + "absent anatomical structure", + "conceptus", + "thoracic segment blood vessel", ], - "has_phenotype_count": 25, + "has_phenotype_count": 11, "highlight": None, "score": None, }, ], - "facet_fields": [], - "facet_queries": [], + "facet_fields": None, + "facet_queries": None, } diff --git a/backend/tests/fixtures/autocomplete_response.py b/backend/tests/fixtures/autocomplete_response.py index 2784ba9d8..230abed5a 100644 --- a/backend/tests/fixtures/autocomplete_response.py +++ b/backend/tests/fixtures/autocomplete_response.py @@ -5,7 +5,7 @@ def autocomplete_response(): return { "responseHeader": { - "QTime": 1, + "QTime": 0, "params": { "mm": "100%", "q": "fanc", @@ -20,23 +20,24 @@ def autocomplete_response(): }, }, "response": { - "num_found": 320, + "num_found": 326, "start": 0, "docs": [ { "id": "MONDO:0009215", "category": "biolink:Disease", "name": "Fanconi anemia complementation group A", + "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.", + "provided_by": "phenio_nodes", "xref": [ "DOID:0111095", "GARD:15170", "GTR:AN1051558", + "MEDGEN:483333", "NCIT:C125702", "OMIM:227650", "UMLS:C3469521", ], - "provided_by": "phenio_nodes", - "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.", "synonym": [ "Estren-Dameshek variant of Fanconi Anaemia", "Estren-Dameshek variant of Fanconi Anemia", @@ -57,14 +58,7 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", "HP:0001875", - "HP:0009777", - "HP:0001249", - "HP:0000252", - "HP:0001627", - "HP:0000957", - "HP:0000815", "HP:0001017", "HP:0000104", "HP:0003974", @@ -72,35 +66,35 @@ def autocomplete_response(): "HP:0000028", "HP:0001873", "HP:0009778", + "HP:0009777", + "HP:0001000", + "HP:0001249", + "HP:0000086", + "HP:0000252", + "HP:0000815", "HP:0001896", "HP:0000568", "HP:0001518", "HP:0003221", - "HP:0001000", "HP:0009943", + "HP:0001627", "HP:0000978", "HP:0030680", "HP:0001903", + "HP:0000957", "HP:0001909", "HP:0012210", "HP:0000081", "HP:0000085", + "HP:0003251", "HP:0004322", "HP:0000486", "HP:0000365", "HP:0003214", "HP:0003213", - "HP:0003251", ], "has_phenotype_label": [ - "Ectopic kidney", "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", "Anemic pallor", "Renal agenesis", "Absent radius", @@ -108,127 +102,169 @@ def autocomplete_response(): "Cryptorchidism", "Thrombocytopenia", "Short thumb", + "Absent thumb", + "Abnormality of skin pigmentation", + "Intellectual disability", + "Ectopic kidney", + "Microcephaly", + "Hypergonadotropic hypogonadism", "Reticulocytopenia", "Microphthalmia", "Small for gestational age", "Chromosomal breakage induced by crosslinking agents", - "Abnormality of skin pigmentation", "Complete duplication of thumb phalanx", + "Abnormal heart morphology", "Bruising susceptibility", - "Abnormality of cardiovascular system morphology", + "Abnormal cardiovascular system morphology", "Anemia", + "Cafe-au-lait spot", "Leukemia", "Abnormal renal morphology", "Duplicated collecting system", "Horseshoe kidney", + "Male infertility", "Short stature", "Strabismus", "Hearing impairment", "Prolonged G2 phase of cell cycle", "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Male infertility", ], "has_phenotype_count": 34, "has_phenotype_closure": [ - "GO:0051716", - "GO:0006950", - "HP:0003213", "UPHENO:0051124", - "HP:0003254", + "GO:0046483", + "UPHENO:0050116", + "UPHENO:0049586", "UPHENO:0049964", - "GO:0007049", + "GO:0044238", + "GO:0006950", + "GO:0051716", + "HP:0003213", + "UPHENO:0050121", "GO:0051319", - "UPHENO:0050625", - "HP:0000364", + "GO:0007049", + "HP:0003214", + "UPHENO:0052160", + "UPHENO:0050620", "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", + "GO:0009987", + "HP:0000365", + "UPHENO:0005596", "UBERON:0002105", - "GO:0007610", - "HP:0000708", + "UPHENO:0052159", + "UPHENO:0052970", + "UPHENO:0050625", + "UPHENO:0049699", + "UPHENO:0049703", + "GO:0006807", + "HP:0031704", + "UPHENO:0049989", + "UPHENO:0005512", + "GO:0050954", + "UPHENO:0005518", + "UPHENO:0050106", "HP:0000549", - "HP:0000486", - "UPHENO:0049622", + "HP:0000708", "NBO:0000444", - "HP:0000496", - "UBERON:0010222", - "UPHENO:0080585", - "UBERON:0006800", - "BFO:0000141", + "UPHENO:0002219", + "NBO:0000338", "UPHENO:0079828", + "GO:0007610", + "UPHENO:0002211", + "HP:0000496", "HP:0011018", "UBERON:0000015", - "GO:0050896", - "UPHENO:0049586", - "NBO:0000338", - "UBERON:0000466", - "UPHENO:0081424", - "UPHENO:0080351", + "UBERON:0010222", + "BFO:0000141", + "HP:0000486", "UPHENO:0000543", - "UPHENO:0081423", + "HP:0001510", + "HP:0004322", + "UPHENO:0080351", "UPHENO:0075159", + "UPHENO:0041226", + "UPHENO:0041465", "GO:0007600", "UPHENO:0041075", - "HP:0000085", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", "UPHENO:0041629", - "HP:0000081", "UPHENO:0075787", - "HP:0002664", - "HP:0011793", + "UPHENO:3000003", "HP:0001909", - "HP:0004377", + "HP:0002664", + "UPHENO:0054970", + "UPHENO:0050234", + "UPHENO:0080662", + "UPHENO:0054957", "HP:0002597", - "HP:0001892", - "HP:0011029", - "UPHENO:0002678", - "UBERON:0000477", - "HP:0000978", - "UPHENO:0051097", "HP:0001933", + "GO:0071704", + "MPATH:105", + "UPHENO:0002678", "UBERON:0007798", - "GO:0003013", - "GO:0008015", - "HP:0009943", + "MPATH:603", + "MPATH:119", + "GO:0006139", + "HP:0011354", + "UBERON:0000477", + "MPATH:0", + "HP:0001892", + "MPATH:1000", + "UBERON:0000948", + "HP:0001627", + "HP:0030680", + "HP:0001626", + "UBERON:0001009", + "UPHENO:0050019", + "UBERON:0005181", + "UBERON:0005178", + "UBERON:0015063", + "UBERON:5106048", + "UBERON:5102389", + "UBERON:0010688", + "UBERON:0011818", "HP:0011314", - "HP:0009602", - "UPHENO:0087369", - "HP:0009942", - "UBERON:0003221", - "UBERON:0012357", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0021800", - "UPHENO:0084447", - "GO:0022403", - "UBERON:0004249", - "UBERON:5106048", - "UBERON:5102389", - "UBERON:0010688", + "GO:0090304", + "UBERON:0012150", + "HP:0009942", + "HP:0009943", + "UBERON:0003221", + "UBERON:0012357", "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0080581", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0000541", - "UBERON:0001436", - "GO:0010468", + "UPHENO:0049757", + "UPHENO:0049775", + "UPHENO:0050784", + "HP:0009602", + "UPHENO:0050126", + "HP:0001939", "NBO:0000313", "GO:0010558", "GO:0031327", - "GO:0006325", - "UPHENO:0049700", + "UBERON:0000915", + "UPHENO:0050065", + "UPHENO:0049904", + "GO:0050794", + "GO:0019222", + "GO:0008152", + "GO:0051325", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UPHENO:0050025", + "UPHENO:0049622", + "UPHENO:0050435", + "UBERON:0000466", + "UPHENO:0049868", + "GO:0042592", + "UPHENO:0049743", + "UPHENO:0050063", + "UBERON:0002075", + "GO:0031049", + "GO:0031052", "GO:0010556", "GO:0031326", "GO:0009890", @@ -236,1477 +272,1761 @@ def autocomplete_response(): "UBERON:0005897", "GO:0010605", "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0008152", - "HP:0000365", - "GO:0009987", "GO:0050789", - "GO:0044238", - "HP:0031704", - "GO:0006807", - "GO:0071704", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", - "HP:0001939", - "UPHENO:0050845", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", + "HP:0003221", + "GO:0010629", + "UPHENO:0050040", + "UPHENO:0050778", "UPHENO:0082794", + "UPHENO:0010799", "GO:0040007", - "UPHENO:0049874", - "UPHENO:0010763", + "UPHENO:0010850", + "UPHENO:0054374", "UBERON:0010543", "HP:0001507", - "UPHENO:0054299", - "UBERON:0000047", - "HP:0000568", - "UPHENO:0075219", + "UPHENO:0054304", + "UPHENO:0010808", + "GO:0006974", + "HP:0004323", + "UPHENO:0049874", + "UBERON:0010230", 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"UPHENO:0068971", + "CL:0000225", + "UPHENO:0046741", + "UBERON:0002544", + "UPHENO:0026308", + "UBERON:0003133", + "UBERON:5006048", + "UBERON:5002389", + "UPHENO:0025845", + "UPHENO:0075195", + "UPHENO:0002352", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0046411", + "UPHENO:0001002", + "UPHENO:0012308", + "UPHENO:0008548", + "HP:0000085", + "UPHENO:0026108", + "UPHENO:0002576", + "BFO:0000003", + "GO:0043473", + "UPHENO:0049587", + "BFO:0000015", + "UPHENO:0027017", + "HP:0012638", + "HP:0011927", + "GO:0050877", + "UBERON:0002049", + "UPHENO:0011533", + "UBERON:0001016", + "UPHENO:0002269", ], "has_phenotype_closure_label": [ - "Decreased fertility in males", - "Decreased fertility", - "abnormal response to stress", - "DNA repair", "response to stress", - "abnormal cellular response to stress", - "abnormal DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Abnormality of the cell cycle", - "G2 phase", + "Abnormality of DNA repair", + "response to stimulus", + "DNA repair", + "DNA damage response phenotype", + "nucleobase-containing compound metabolic process phenotype", + "organic cyclic compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "metabolic process phenotype", + "macromolecule metabolic process phenotype", "cell cycle phase", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", + "Abnormality of the cell cycle", + "interphase", "ear", - "abnormal ear", + "sensory perception", + "decreased sensory perception", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "anatomical line", - "body part movement", + "decreased qualitatively system process", + "decreased qualitatively sensory perception of sound", + "sensory perception phenotype", + "ear physiology phenotype", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "decreased system process", + "Hearing impairment", + "sense organ physiology phenotype", + "nucleic acid metabolic process phenotype", + "lateral structure physiology phenotype", "immaterial anatomical entity", - "behavior", - "response to stimulus", "eye movement", - "abnormal eye movement", "Strabismus", - "behavior process", - "abnormal response to stimulus", - "Abnormality of body height", + "body part movement", + "multicellular organismal process phenotype", + "anatomical line", + "behavior", + "decreased qualitatively sensory perception of mechanical stimulus", + "eye physiology phenotype", + "Atypical behavior", + "camera-type eye physiology phenotype", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "multicellular organism height phenotype", "Short stature", + "size of multicellular organism phenotype", "delayed biological_process", - "abnormal DNA damage response", - "delayed growth", - "abnormal size of multicellular organism", - "Horseshoe kidney", - "shape anatomical entity", + "Abnormality of body height", + "Decreased fertility in males", + "Decreased fertility", + "Male infertility", + "3-D shape anatomical entity", "Abnormality of eye movement", "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", + "Abnormal renal collecting system morphology", + "macromolecule metabolic process", + "Duplicated collecting system", "Neoplasm", - "Hematological neoplasm", - "vasculature", + "Leukemia", + "neoplasm phenotype", + "biological_process rate phenotype", + "increased qualitatively biological_process", + "Localized skin lesion", + "Hyperpigmentation of the skin", + "Cafe-au-lait spot", + "Macule", + "vascular system", "Abnormality of the vasculature", - "blood circulation", - "Bruising susceptibility", - "Subcutaneous hemorrhage", - "abnormality of cardiovascular system physiology", + "anatomical cluster phenotype", "Generalized abnormality of skin", - "Internal hemorrhage", - "Abnormality of blood circulation", "Vascular skin abnormality", - "vascular system", - "Abnormal bleeding", - "abnormal anatomical entity morphology in the skeleton of manus", + "vasculature", + "Abnormal heart morphology", + "Abnormal cardiovascular system morphology", + "heart morphology phenotype", + "circulatory organ", + "Abnormality of the cardiovascular system", + "heart plus pericardium", + "thoracic cavity element", + "Duplication of thumb phalanx", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", "manual digit bone", - "Duplication of bones involving the upper extremities", + "eye movement phenotype", + "manual digit digitopodial skeleton", "phalanx endochondral element", - "manual digit phalanx endochondral element", - "Duplication of phalanx of hand", - "abnormal phalanx morphology", - "acropodial skeleton", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", "phalanx", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "digitopodium bone", "skeleton of manual acropodium", - "manual digitopodium bone", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", + "digitopodium bone", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular biosynthetic process", + "metabolic process", "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "regulation of biosynthetic process", - "individual digit of digitopodial skeleton", - "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "Abnormality of DNA repair", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "decreased height of the anatomical entity", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "Duplicated collecting system", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "negative regulation of macromolecule metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", + "negative regulation of gene expression", "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "negative regulation of cellular process phenotype", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "regulation of cellular biosynthetic process phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "multicellular organism mass phenotype", + "material anatomical entity mass phenotype", + "decreased anatomical structure mass", + "decreased material anatomical entity mass", "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormal growth", - "decreased anatomical entity mass", - "abnormal cell cycle", - "Duplication of thumb phalanx", - "abnormality of anatomical entity mass", - "sensory system", - "decreased size of the eyeball of camera-type eye", - "simple eye", - "eyeball of camera-type eye", "camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "abnormal camera-type eye morphology", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "entire sense organ system", + "Abnormality of the orbital region", + "camera-type eye morphology phenotype", "Abnormality of the eye", - "abnormal face", + "face phenotype", "orbital region", - "abnormal eyeball of camera-type eye", - "abnormal size of eyeball of camera-type eye", - "visual system", - "Abnormality of the orbital region", - "Abnormality of the face", "sense organ", "Microphthalmia", - "abnormal enucleated reticulocyte morphology", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "size of eyeball of camera-type eye phenotype", + "simple eye", + "sensory system", + "face morphology phenotype", + "Abnormal eye morphology", + "orbital region phenotype", + "number of anatomical enitites of type reticulocyte phenotype", + "decreased number of reticulocyte", + "enucleated reticulocyte", + "reticulocyte", + "enucleated reticulocyte morphology phenotype", + "vasculature phenotype", + "growth phenotype", + "Abnormality of the endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "sense organ phenotype", + "Abnormality of reproductive system physiology", + "decreased functionality of the organ", + "reproductive system physiology phenotype", + "multicellular anatomical structure physiology phenotype", + "Puberty and gonadal disorders", + "decreased functionality of the material anatomical entity", + "reproductive organ physiology phenotype", + "decreased functionality of the anatomical entity", + "endocrine system phenotype", + "Opisthokonta", + "Abnormal brain morphology", + "Abnormal skull morphology", + "Abnormality of head or neck", + "regional part of nervous system", + "brain", + "regional part of brain", + "craniocervical region phenotype", + "cardiovascular system morphology phenotype", + "Growth abnormality", + "axial skeletal system", + "cranial skeletal system", + "structure with developmental contribution from neural crest", + "head phenotype", + "telencephalon", + "Abnormal axial skeleton morphology", + "Hematological neoplasm", + "regional part of nervous system phenotype", + "organism", + "cell cycle phenotype", + "regional part of brain phenotype", + "subdivision of organism along main body axis phenotype", + "size of skull phenotype", + "craniocervical region", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "subdivision of skeletal system phenotype", "Abnormality of body weight", "aplasia or hypoplasia of telencephalon", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Non-obstructive azoospermia", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "system process", - "Duplication of hand bones", - "abnormal nitrogen compound metabolic process", - "nervous system process", + "decreased multicellular organismal process", + "root", + "primary metabolic process phenotype", + "forebrain morphology phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "Decreased head circumference", + "postcranial axial skeleton", "axial skeleton plus cranial skeleton", - "Abnormal appendicular skeleton morphology", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "acropodium region", - "Intellectual disability", - "bone marrow", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "segment of manus", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal immune system morphology", + "structure with developmental contribution from neural crest phenotype", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "Infertility", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "skull phenotype", + "telencephalon morphology phenotype", + "cellular response to stress phenotype", + "craniocervical region morphology phenotype", + "localised cavitated compound organ", + "manual digitopodium bone", + "localised lateral structure", + "negative regulation of gene expression phenotype", + "localised compound organ", + "localised trunk region element", + "Abnormal localization of kidney", + "Duplication of bones involving the upper extremities", + "localised abdominal segment element", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "Aplasia involving bones of the extremities", + "All", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "G2 phase", + "nervous system phenotype", + "paired limb/fin segment phenotype", + "Aplasia involving bones of the upper limbs", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "limb long bone", + "eye", + "compound organ", + "zeugopodial skeleton", + "endocrine system", + "head morphology phenotype", + "forelimb skeleton", "genitourinary system", - "decreased qualitatively reproductive process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", + "skeleton phenotype", + "absent forelimb endochondral element", + "limb phenotype", "paired limb/fin skeleton", - "arm", + "agenesis of anatomical entity", + "absent bone of free limb or fin in the limb", + "absent lateral structure", "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", "Aplasia/Hypoplasia of the radius", - "Abnormal finger phalanx morphology", - "pigmentation", + "subdivision of skeleton", + "decreased length of autopodial extension", + "ectoderm-derived structure", "bone of appendage girdle complex", - "Male infertility", - "abnormal limb morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "entity", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal autopod region morphology", - "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", + "Abnormal forebrain morphology", + "forelimb", + "Abnormal skeletal morphology", + "pathological phenotype observation", + "decreased functionality of the gonad", + "decreased size of the anatomical entity in the pectoral complex", + "skeleton of limb", + "Aplasia involving forearm bones", + "aplastic forelimb zeugopod bone", + "absent limb bone in the limb", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "absent arm bone in the forelimb", + "paired limb/fin phenotype", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "cardiovascular system", + "absent skeletal element", + "aplastic anatomical entity", + "arm phenotype", + "hematopoietic system", + "response to stress phenotype", + "Small for gestational age", + "Abnormal forearm morphology", + "testis phenotype", + "upper urinary tract phenotype", + "absent compound organ", + "decreased size of the organism subdivision", + "Renal hypoplasia/aplasia", + "digit phenotype", + "renal system", + "absent manual digit", + "absent anatomical entity in the renal system", + "cell", "limb", "Neoplasm by anatomical site", "Decreased anatomical entity mass", "Abnormality of the upper limb", - "cell", - "absent anatomical entity in the renal system", - "skeleton", - "male gamete generation", - "absent anatomical entity", - "Abnormal digit morphology", - "appendicular skeletal system", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", - "agenesis of anatomical entity", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "abnormal digit morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of manus", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", - "skeletal system", - "motile cell", - "aplastic anatomical entity", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "abnormally decreased number of myeloid cell", - "face", - "aplasia or hypoplasia of manual digit", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", + "main body axis", + "gonad physiology phenotype", + "forebrain", + "myeloid leukocyte phenotype", + "localised multicellular anatomical structure", + "excretory system", + "cellular process", + "long bone morphology phenotype", + "number of anatomical enitites of type kidney phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "trunk", + "absent trunk region element in the multicellular organism", + "absent material anatomical entity in the multicellular organism", + "lateral structure phenotype", + "Irregular hyperpigmentation", + "male organism", + "absent trunk region element in the renal system", "regulation of metabolic process", "Decreased body weight", + "decreased size of the ectoderm-derived structure", "manual digit 1", "autopodial extension", - "digit plus metapodial segment", - "Short thumb", - "enucleated reticulocyte", + "Chromosome breakage", + "trunk region element phenotype", + "forelimb long bone", + "localised male reproductive organ", + "Abnormal conjugate eye movement", + "forelimb bone", + "renal/urinary system phenotype", + "decreased qualitatively biological_process", + "ear phenotype", + "anatomical entity", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "appendicular skeletal system", + "Renal agenesis", "Abnormality of the kidney", - "excretory system", - "bone marrow cell", - "circulatory system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "abnormal myeloid cell morphology", - "increased biological_process", - "sexual reproduction", - "Macule", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "quality", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abdomen element", + "manual digit phalanx endochondral element", + "number of anatomical enitites of type trunk region element phenotype", + "decreased functionality of the reproductive structure", + "Cryptorchidism", + "cell cycle", + "pectoral complex", + "decreased size of the material anatomical entity", + "body proper", + "absent cavitated compound organ", + "Abnormality of the upper urinary tract", + "number of anatomical enitites of type lateral structure phenotype", + "bone of appendage girdle complex phenotype", + "trunk region element", + "decreased size of the manual digit", + "Hypermelanotic macule", + "absent kidney in the renal system", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent material anatomical entity in the renal system", + "Abnormal platelet count", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "number of anatomical enitites of type organ phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "central nervous system morphology phenotype", + "Abnormality of the nervous system", + "cavitated compound organ phenotype", "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "DNA damage response", - "lateral structure", - "abnormal vasculature", - "abnormal genitourinary system", - "changed developmental process rate", - "Abnormal cerebral morphology", - "abnormal blood circulation", - "arm bone", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "abnormal hematopoietic system", - "Renal agenesis", + "Absent thumb", + "absent radius endochondral element", + "Abnormal reticulocyte morphology", + "number of hematopoietic cell phenotype", + "renal system phenotype", + "nucleic acid metabolic process", + "absent endochondral bone in the limb", + "Abnormal renal morphology", + "absent forelimb zeugopod bone in the forelimb", + "Abnormal myeloid leukocyte morphology", + "compound organ phenotype", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "arm", + "Anemic pallor", + "absent limb long bone in the forelimb", + "multicellular anatomical structure mass phenotype", + "male reproductive organ phenotype", + "number of anatomical enitites of type compound organ phenotype", + "leukocyte", + "simple eye phenotype", + "abdomen element", + "DNA damage response", + "lateral structure", + "cellular process phenotype", + "multicellular organism phenotype", + "external genitalia phenotype", + "appendicular skeleton morphology phenotype", + "occurrent", "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "nucleate cell", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "renal system", - "absent digit", - "phenotype", + "decreased number of platelet", + "decreased number of anatomical entity", + "absent anatomical structure in the forelimb", + "integument phenotype", + "biological regulation", + "absent trunk region element", + "abdominal segment of trunk", + "Abnormal cellular phenotype", + "Duplication of phalanx of hand", + "number of anatomical enitites of type cavitated compound organ phenotype", + "reproductive structure physiology phenotype", + "number of anatomical enitites of type granulocyte phenotype", + "abdominal segment element", + "decreased number of neutrophil", + "renal collecting system phenotype", + "musculature", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "decreased size of the autopodial extension", + "absent bone of pectoral complex in the limb", + "digit 1 digitopodial skeleton", + "decreased number of myeloid cell", + "limb endochondral element", + "absent limb bone", "Abnormal cell morphology", + "phenotype", + "eye phenotype", + "Abnormal cellular immune system morphology", "skeletal element", + "regulation of biosynthetic process phenotype", "zeugopod", - "Abnormal cellular immune system morphology", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "regional part of nervous system", - "abdominal segment element", - "abnormal reproductive system morphology", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "hemolymphoid system", - "biological_process", - "myeloid leukocyte", - "entire sense organ system", - "absent radius bone in the independent continuant", - "Abnormal localization of kidney", - "biological regulation", - "abdominal segment of trunk", + "radius endochondral element", + "taxon specific phenotype", + "granulocyte morphology phenotype", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "nervous system process phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "Bruising susceptibility", + "absent compound organ in the renal system", "renal collecting system", "Ectopic kidney", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal immune system", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", - "abnormal renal system morphology", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "absent kidney in the renal system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "reproduction", - "absent anatomical entity in the multicellular organism", - "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", - "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Aplasia/hypoplasia involving the skeleton", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "subdivision of trunk", - "absent manual digit", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "body proper", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "continuant", - "abnormality of ear physiology", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", - "cellular metabolic process", - "Abnormality of neutrophils", - "leukocyte", - "abnormal gamete generation", - "protein-containing material entity", - "gamete generation", - "abnormally decreased number of cell in the independent continuant", - "abnormal neutrophil", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "phalanx of manus", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", - "abnormal nervous system", - "paired limb/fin segment", - "abnormality of camera-type eye physiology", - "immune system", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "Absent forearm bone", - "Leukemia", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", + "immune system morphology phenotype", + "cell phenotype", + "obsolete cell", + "programmed DNA elimination", + "anatomical entity morphology phenotype", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "localised kidney", + "absent anatomical structure", + "absent cavitated compound organ in the renal system", + "decreased number of anatomical structure", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", + "platelet phenotype", + "integument", + "erythroid lineage cell morphology phenotype", + "Abnormality of the integument", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "Microcephaly", + "multi-tissue structure phenotype", + "Abnormality of the musculoskeletal system", + "circulatory system", + "bone marrow cell", + "regulation of gene expression phenotype", + "brain morphology phenotype", + "system", + "absent forelimb bone in the forelimb", + "multicellular organism morphology phenotype", + "cavitated compound organ", + "Abnormal leukocyte count", + "number of anatomical enitites of type neutrophil phenotype", "blood cell", "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", "Abnormal myeloid cell morphology", "U-shaped kidney", "digit 1 or 5", - "skeleton of manual digitopodium", - "primary circulatory organ", + "entity", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", + "subdivision of organism along main body axis", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "Abnormal immune system morphology", + "number of platelet phenotype", + "external genitalia", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "arm bone", + "absent kidney", + "increased pigmentation", + "material anatomical entity phenotype", + "forelimb long bone phenotype", + "nucleobase-containing compound metabolic process", + "manus morphology phenotype", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "anatomical entity morphology in the appendage girdle complex phenotype", + "bone of free limb or fin phenotype", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "immune system", + "Absent forearm bone", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "organ system subdivision", + "erythrocyte", + "decreased number of cell", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "limb long bone morphology phenotype", + "Abnormality of skin pigmentation", + "phenotypic effect", + "size of anatomical entity phenotype", + "Abnormality of thumb phalanx", + "decreased number of leukocyte", + "absent anatomical structure in the limb", + "absent anatomical entity", + "integumental system", "granulocyte", "Complete duplication of phalanx of hand", "limb bone", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "viscus", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "aplastic manual digit 1", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "abnormality of nervous system physiology", + "absent bone element in the limb", + "myeloid leukocyte", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "Growth delay", + "kidney", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "Abnormal bone marrow cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", + "vision/eye phenotype", + "absent multicellular anatomical structure in the skeletal system", "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", + "number of anatomical enitites of type anatomical entity phenotype", + "neutrophil phenotype", + "external male genitalia", + "decreased functionality of the reproductive organ", + "non-connected functional system", + "skin of body phenotype", + "Abnormal granulocyte count", + "absent bone of appendage girdle complex in the limb", + "number of cell phenotype", + "number of leukocyte phenotype", + "platelet", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "multi-tissue structure", + "limb long bone phenotype", + "musculoskeletal system", + "absent material anatomical entity in the forelimb", + "anatomical system phenotype", + "musculature phenotype", + "number of myeloid cell phenotype", + "absent bone element", + "paired limb/fin", + "decreased size of the digit", + "decreased number of material anatomical entity", + "regulation of macromolecule biosynthetic process", + "anatomical structure mass phenotype", + "decreased functionality of the anatomical structure", + "multicellular organism", + "Thrombocytopenia", + "decreased sensory perception of mechanical stimulus", + "phalanx of manus", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "anatomical entity phenotype", + "appendage", + "localised testis", + "bone element", + "mesoderm-derived structure phenotype", + "decreased number of hematopoietic cell", + "absent organ", + "decreased multicellular anatomical structure mass", + "Absent radius", + "cellular metabolic process", + "superficial fascia", + "Abnormality of neutrophils", + "Abnormal morphology of the radius", + "absent lateral structure in the renal system", + "absent abdominal segment element", + "decreased size of the anatomical entity", + "absent material anatomical entity", + "Aplasia/hypoplasia involving bones of the hand", "Abnormal granulocyte morphology", - "abnormally decreased number of granulocyte", - "manual digit 1 plus metapodial segment", - "abdomen", + "glandular system", + "Abnormal male external genitalia morphology", + "absent abdominal segment element in the renal system", + "motile cell", + "skeletal system", + "sensory perception of mechanical stimulus phenotype", + "anatomical line between pupils", + "independent continuant", + "absent abdomen element", "neutrophil", - "Complete duplication of thumb phalanx", - "manual digit 1 phalanx", - "abnormal forelimb zeugopod bone", - "Abnormal myeloid leukocyte morphology", + "subdivision of head phenotype", + "blood cell phenotype", + "decreased number of granulocyte", + "multicellular anatomical structure phenotype", + "Hearing abnormality", + "absent anatomical structure in the renal system", + "continuant", + "absent bone of free limb or fin in the forelimb", + "manual digit 1 phalanx endochondral element", + "forelimb zeugopod bone morphology phenotype", + "tissue", + "decreased sensory perception of sound", + "anatomical system physiology phenotype", + "anatomical structure", + "Abnormal bleeding", + "immune system phenotype", + "skeleton", + "paired limb/fin segment", + "erythrocyte morphology phenotype", + "skeletal element phenotype", + "limb segment", + "forelimb morphology phenotype", + "cellular organisms", + "Abnormal neutrophil count", + "oxygen accumulating cell", + "protein-containing material entity", + "segment of manus", + "eukaryotic cell", + "absent radius bone in the forelimb", + "skeletal system morphology phenotype", + "kidney phenotype", + "material anatomical entity", + "skin of body morphology phenotype", + "hematopoietic system phenotype", + "ectoderm-derived structure phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "forelimb endochondral element phenotype", + "subdivision of organism along appendicular axis phenotype", "Pancytopenia", - "abnormal head", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", - "organism", - "programmed DNA elimination", - "obsolete cell", - "internal male genitalia", - "Abnormal granulocyte count", - "eye", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal hematopoietic cell morphology", - "biological phase", - "autopod bone", - "mesoderm-derived structure", - "abnormal manus", - "craniocervical region", - "abnormal forebrain morphology", - "multi-tissue structure", - "abnormal craniocervical region morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", - "Decreased head circumference", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "abnormal head morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "spermatogenesis", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "Infertility", - "negative regulation of cellular metabolic process", - "Eukaryota", - "kinesthetic behavior", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "manual digit 1 phalanx endochondral element", - "tissue", - "absent anatomical entity in the semen", - "limb skeleton subdivision", - "skull", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "absent sperm in the semen", - "bone of pectoral complex", - "decreased length of anatomical entity", - "autopod endochondral element", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb", - "Abnormal forebrain morphology", - "multicellular organismal reproductive process", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Abnormal renal morphology", - "abnormal external genitalia", - "Abnormal axial skeleton morphology", + "acropodium region", + "Abnormal skin morphology", + "telencephalon phenotype", + "male reproductive system phenotype", + "forelimb zeugopod", + "absent limb long bone", + "decreased length of material anatomical entity", + "absent organ in the renal system", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "acropodial skeleton", + "autopod region morphology phenotype", + "absent limb endochondral element in the forelimb", + "number of anatomical enitites of type endochondral bone phenotype", + "DNA metabolic process phenotype", + "hemolymphoid system", + "multi-limb segment region phenotype", + "aplasia or hypoplasia of skeleton", + "renal system morphology phenotype", + "radius bone morphology phenotype", + "absent radius endochondral element in the forelimb", "non-material anatomical boundary", "erythroid lineage cell", - "reproductive organ", - "abnormal skull morphology", - "Abnormality of brain morphology", + "absent limb bone in the forelimb", + "Aplasia/hypoplasia involving bones of the extremities", + "absent mesoderm-derived structure", + "digit 1 plus metapodial segment", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "number of anatomical enitites of type abdominal segment element phenotype", + "number of anatomical enitites of type skeletal element phenotype", + "nervous system physiology phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "manus phenotype", + "Aplasia/hypoplasia of the extremities", + "absent skeletal element in the limb", + "Pallor", + "absent radius bone", + "decreased length of anatomical structure", + "absent anatomical structure in the skeletal system", + "absent limb endochondral element in the limb", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "behavior phenotype", "nervous system", "forelimb zeugopod bone", - "heart plus pericardium", - "Cryptorchidism", - "thoracic segment organ", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "circulatory organ", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Abnormality of cardiovascular system morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "integumental system", - "integument", - "absent radius bone in the forelimb", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Growth delay", - "kidney", - "abnormal biological_process", - "Abnormality of skin morphology", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Neutropenia", - "reproductive structure", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "germ line cell", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal integument", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "limb segment", - "absent sperm", - "abnormal endocrine system", - "abnormally decreased number of reticulocyte", - "Abnormality of the endocrine system", - "Abnormality of reproductive system physiology", - "gamete", - "male gamete", - "abnormally decreased functionality of the gonad", + "decreased functionality of the multicellular anatomical structure", + "decreased length of manual digit 1 or 5", + "radius bone phenotype", + "decreased length of digit 1", + "increased biological_process", + "absent bone of free limb or fin", + "aplastic manual digit 1", + "number of anatomical enitites of type bone element phenotype", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "Abnormal cerebral morphology", + "absent endochondral element in the limb", + "limb segment phenotype", + "decreased size of the organ", + "absent forelimb bone", + "multi-limb segment region", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "forelimb bone phenotype", + "absent multicellular anatomical structure in the limb", + "decreased size of the sense organ", + "quality", + "anatomical collection phenotype", + "subdivision of head", + "appendage girdle complex", + "absent mesoderm-derived structure in the forelimb", + "cellular response to stimulus phenotype", + "Abnormal appendicular skeleton morphology", + "absent bone element in the forelimb", + "Reticulocytopenia", + "absent endochondral element in the forelimb", + "absent forelimb bone in the limb", "Abnormality of the genital system", - "glandular system", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "manus bone", - "radius bone", - "Abnormality of the hand", - "Anemia", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "absent kidney", - "subdivision of skeletal system", - "abnormally decreased number of neutrophil", - "absent kidney in the independent continuant", - "Aplasia involving bones of the upper limbs", - "eukaryotic cell", - "abnormal limb long bone morphology", - "absent forelimb zeugopod bone", - "forelimb zeugopod skeleton", - "abnormal size of skull", - "forelimb long bone", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", - "Pallor", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "Absent radius", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal behavior", - "radius endochondral element", + "vestibulo-auditory system", + "absent limb endochondral element", + "upper limb segment phenotype", + "endochondral element phenotype", + "absent long bone in the forelimb", + "manual digit 1 morphology phenotype", + "absent organ in the limb", + "Abnormal leukocyte morphology", + "organ phenotype", + "absent bone of appendage girdle complex", + "Abnormal platelet morphology", + "autopod endochondral element", + "homeostatic process phenotype", + "central nervous system", + "Abnormality of limb bone", + "absent endochondral element", + "absent endochondral bone in the forelimb", + "simple eye physiology phenotype", + "absent organ in the forelimb", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "limb bone morphology phenotype", + "delayed growth", + "arm bone phenotype", + "number of anatomical enitites of type abdomen element phenotype", + "limb endochondral element phenotype", + "anatomical entity length phenotype", + "digit", "sensory perception of mechanical stimulus", - "abnormally decreased number of anatomical entity", "skin of body", "Abnormal upper limb bone morphology", - "abnormal radius bone morphology", - "forelimb zeugopod", - "abnormal testis morphology", - "aplastic forelimb zeugopod bone", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal cellular process", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", + "bone of pectoral complex phenotype", + "aplasia or hypoplasia of manual digit 1", + "endochondral element", + "skeleton of pectoral complex", + "forelimb zeugopod morphology phenotype", + "manual digit morphology in the manus phenotype", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "absent forelimb endochondral element in the limb", + "appendage phenotype", + "organism subdivision phenotype", + "Abnormality of limbs", + "bone of pectoral complex morphology phenotype", + "negative regulation of metabolic process phenotype", + "Short finger", + "absent long bone", + "Aplasia/hypoplasia involving the skeleton", + "Abnormality of globe size", + "bone element phenotype", + "absent bone of pectoral complex in the forelimb", + "aplasia or hypoplasia of radius bone", + "primary circulatory organ", + "skeleton of manual digitopodium", + "absent endochondral bone", + "localised organ", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "absent bone of appendage girdle complex in the forelimb", + "absent skeletal element in the forelimb", + "behavior process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "number of anatomical enitites of type endochondral element phenotype", + "anatomical entity physiology phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "cognition", + "endochondral bone phenotype", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "decreased length of manual digit", + "Aplasia/hypoplasia involving forearm bones", + "absent organ in the multicellular organism", + "multicellular organismal process", + "U-shaped anatomical entity", + "long bone phenotype", + "absent forelimb zeugopod bone", + "forelimb zeugopod bone phenotype", + "Abnormal finger phalanx morphology", + "pigmentation", + "shape of continuant phenotype", "anucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "cellular organisms", - "Abnormal neutrophil count", - "obsolete multicellular organism reproduction", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", "serotonin secreting cell", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "digit 1", - "abnormal platelet morphology", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "developmental process involved in reproduction", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "germ cell", - "absent gamete", - "sperm", - "abnormal gamete", - "Reticulocytopenia", - "organism substance", - "haploid cell", + "Abnormality of thrombocytes", + "limb bone phenotype", + "secretory cell", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "localised anatomical structure", + "testis", + "skull morphology phenotype", + "localised reproductive structure", + "behavior process phenotype", + "reproductive system phenotype", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "nucleate cell", + "reproductive structure phenotype", + "viscus", + "anatomical entity mass phenotype", + "reproductive organ phenotype", + "skull", + "absent material anatomical entity in the skeletal system", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "cardiovascular system phenotype", + "localised abdomen element", + "Abnormal testis morphology", "disconnected anatomical group", - "abnormal cell", "male reproductive organ", - "internal genitalia", - "abnormal internal genitalia", - "platelet", - "absent sperm in the independent continuant", - "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "reproductive process", + "absent arm bone", + "reproductive organ", + "gonad phenotype", + "response to stimulus phenotype", + "reproductive system", + "Abnormal eye physiology", + "segment of autopod", + "localised material anatomical entity", + "Aplasia/Hypoplasia of fingers", + "Neutropenia", + "reproductive structure", + "external male genitalia phenotype", + "Abnormality of mental function", + "increased biological_process in skin of body", + "localised anatomical entity", + "decreased size of the multicellular anatomical structure", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "absent mesoderm-derived structure in the limb", + "autopod region phenotype", + "anatomical entity morphology in the manus phenotype", + "autopodial skeleton", + "ectoderm-derived structure physiology phenotype", "shape kidney", "negative regulation of metabolic process", + "nervous system morphology phenotype", "manual digit 1 or 5", - "developmental process", - "Abnormal external genitalia", "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "interphase", - "semen", - "Abnormal testis morphology", - "male germ cell", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "male organism", - "abnormal granulocyte morphology", - "Azoospermia", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "testis", - "external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "Short finger", - "Abnormal reticulocyte morphology", - "decreased length of anatomical entity in independent continuant", + "abdomen", + "manual digit 1 plus metapodial segment", + "decreased length of organism subdivision", + "bone of pectoral complex", + "decreased length of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", "anterior region of body", "decreased length of manual digit 1", - "manual digitopodium region", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "decreased length of digit", + "skeleton of manus", + "digitopodium region", + "camera-type eye phenotype", + "manus", + "Anemia", + "manus bone", + "radius bone", + "Abnormality of the hand", + "face", + "aplasia or hypoplasia of manual digit", + "digit 1", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "decreased length of multicellular anatomical structure", + "digit 1 phenotype", + "Abnormal digit morphology", + "absent abdomen element in the renal system", + "digit morphology phenotype", + "digit 1 or 5 phenotype", + "autopodial extension phenotype", + "manual digit plus metapodial segment", + "manual digit phenotype", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "pigmentation phenotype", + "Short thumb", + "DNA repair phenotype", "skeleton of digitopodium", + "absent multicellular anatomical structure in the renal system", "Short digit", - "reticulocyte", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "manual digitopodium region", + "decreased length of digit", + "skeletal system phenotype", + "digit plus metapodial segment", + "Metazoa", + "Abnormal hand morphology", + "organ", + "decreased size of the anatomical structure", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "Subcutaneous hemorrhage", + "absent organism subdivision in the multicellular organism", + "abdominal segment element phenotype", + "Finger aplasia", + "absent organism subdivision", + "Neurodevelopmental abnormality", + "absent autopodial extension", + "Abnormal limb bone morphology", + "absent digit", + "number of anatomical enitites of type organism subdivision phenotype", + "genitourinary system phenotype", + "biological_process", + "process", + "Duplication of hand bones", + "nervous system process", + "anatomical structure physiology phenotype", + "bone marrow", + "Intellectual disability", + "system process", + "Hypergonadotropic hypogonadism", + "material anatomical entity physiology phenotype", ], }, { "id": "MONDO:0013566", "category": "biolink:Disease", "name": "Fanconi anemia complementation group L", - "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], - "provided_by": "phenio_nodes", "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", + "provided_by": "phenio_nodes", + "xref": ["DOID:0111082", "GARD:15754", "MEDGEN:854018", "OMIM:614083", "UMLS:C3469528"], "synonym": [ "FANCL", "FANCL Fanconi anaemia", @@ -1722,25 +2042,25 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0007018", "HP:0000470", - "HP:0008551", + "HP:0007018", "HP:0009777", - "HP:0004590", "HP:0002575", "HP:0000238", - "HP:0000369", + "HP:0040012", "HP:0000465", - "HP:0000957", - "HP:0002023", "HP:0000582", - "HP:0001510", + "HP:0008551", + "HP:0004590", "HP:0000316", + "HP:0002188", "HP:0001776", + "HP:0000369", "HP:0000347", "HP:0003974", + "HP:0001510", "HP:0001511", + "HP:0000568", "HP:0009892", "HP:0000151", "HP:0001263", @@ -1748,37 +2068,37 @@ def autocomplete_response(): "HP:0002032", "HP:0011968", "HP:0001321", + "HP:0000431", "HP:0000175", "HP:0000054", + "HP:0005528", "HP:0000437", "HP:0001903", + "HP:0000957", "HP:0000122", - "HP:0002188", - "HP:0000568", - "HP:0000431", - "HP:0005528", "HP:0000089", + "HP:0002023", ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", "Short neck", - "Microtia", + "Attention deficit hyperactivity disorder", "Absent thumb", - "Hypoplastic sacrum", "Tracheoesophageal fistula", "Hydrocephalus", - "Low-set ears", + "Chromosome breakage", "Webbed neck", - "Cafe-au-lait spot", - "Anal atresia", "Upslanted palpebral fissure", - "Growth delay", + "Microtia", + "Hypoplastic sacrum", "Hypertelorism", + "Delayed CNS myelination", "Bilateral talipes equinovarus", + "Low-set ears", "Micrognathia", "Absent radius", + "Growth delay", "Intrauterine growth retardation", + "Microphthalmia", "Anotia", "Aplasia of the uterus", "Global developmental delay", @@ -1786,1812 +2106,2391 @@ def autocomplete_response(): "Esophageal atresia", "Feeding difficulties", "Cerebellar hypoplasia", + "Wide nasal bridge", "Cleft palate", "Micropenis", + "Bone marrow hypocellularity", "Depressed nasal tip", "Anemia", + "Cafe-au-lait spot", "Unilateral renal agenesis", - "Delayed CNS myelination", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", "Renal hypoplasia", + "Anal atresia", ], "has_phenotype_count": 36, "has_phenotype_closure": [ + "UPHENO:0063577", + "UPHENO:0063599", + "UPHENO:0074227", + "UBERON:0001245", + "UPHENO:0002839", + "UPHENO:0074230", "UPHENO:0081210", - "UBERON:0000479", - "HP:0005528", - "HP:0002715", - "HP:0005561", - "UPHENO:0085195", - "UPHENO:0087355", - "UPHENO:0087123", - "HP:0012145", - "UPHENO:0006147", - "UPHENO:0087278", - "UPHENO:0081800", - "UBERON:0008340", - "HP:0000431", - "UPHENO:0006161", - "HP:0000568", - "HP:0100887", - "HP:0008056", - "UPHENO:0000552", - "UPHENO:0050372", - "GO:0048709", - "GO:0048869", - "HP:0012448", - "GO:0007399", - 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"UPHENO:0000555", + "GO:0048869", + "GO:0007272", + "UBERON:0003278", + "UBERON:0000463", + "UBERON:0002495", + "UPHENO:0002751", + "UPHENO:0000554", + "UPHENO:0025817", + "GO:0007399", + "GO:0007417", + "UPHENO:0063575", + "UBERON:0000019", + "UBERON:0000073", + "UBERON:0004733", + "UPHENO:0000556", + "GO:0009987", + "GO:0032502", + "UPHENO:0002988", + "UBERON:0013515", + "UPHENO:0041098", + "UPHENO:0000552", + "GO:0010001", + "HP:0012447", + "GO:0032291", + "UPHENO:0002750", + "UBERON:0003113", + "GO:0042552", + "GO:0030154", + "UPHENO:0000543", + "UPHENO:0050734", + "HP:0000465", + "UPHENO:0050121", + "HP:0005656", + "UBERON:0010709", + "HP:0001762", + "UPHENO:0026808", "UPHENO:0081575", - "HP:0000925", - "UBERON:0008784", + "UBERON:0000154", + "UBERON:0004709", + "HP:0001883", + "UPHENO:0005016", + "UPHENO:0086628", + "UPHENO:0025401", + "HP:0001760", + "UPHENO:0081784", + "UPHENO:0018414", + "HP:0000357", + "HP:0009116", + "UPHENO:0002682", + "UBERON:0003135", + "UPHENO:0083646", + "UBERON:0002113", + "UBERON:0007842", + "HP:0011844", + "UBERON:0002514", + "UBERON:0000165", + "UPHENO:0011548", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0002761", + "HP:0030791", + "UBERON:0010323", + "UPHENO:0063581", + "UPHENO:0087501", + "NBO:0000455", + "UPHENO:0002550", + "UBERON:0001684", + "HP:0000163", + "UBERON:0003462", + "UBERON:0003457", + "UPHENO:0063576", + "UPHENO:0080087", + "UBERON:0003460", + "UPHENO:0002536", + "HP:0012733", + "UPHENO:0002818", + "HP:0012145", + "UPHENO:0087806", + "UPHENO:0002828", + "HP:0000464", "HP:0002692", "UBERON:0004756", - ], - "has_phenotype_closure_label": [ - "decreased size of the kidney", - "Bone marrow hypocellularity", - "bone marrow", - "abnormal immune system morphology", - "bone cell", - "tissue", - "Abnormality of bone marrow cell morphology", - "abnormal immune system", - "increased width of anatomical entity", - "abnormal nasal bridge morphology", - "abnormal snout morphology", - "increased width of nasal bridge", - "increased width of the anatomical entity in independent continuant", - "snout", - "Abnormality of globe size", - "Aplasia/Hypoplasia affecting the eye", - "central nervous system myelination", - "gliogenesis", - "decreased size of the eyeball of camera-type eye", - "oligodendrocyte differentiation", - "oligodendrocyte development", - "nervous system development", - "glial cell differentiation", - "abnormal myelination in independent continuant", - "delayed central nervous system myelination", - "abnormal central nervous system myelination in independent continuant", - "abnormal biological_process in central nervous system", - "Abnormal myelination", - "abnormal hematopoietic system morphology", - "system development", - "axon ensheathment", - "abnormal axon ensheathment in central nervous system in independent continuant", - "cellular developmental process", - "abdomen element", - "Abnormality of the kidney", - "absent anatomical entity in the renal system", - "absent kidney", - "cavitated compound organ", - "excretory system", - "abnormal renal system", - "renal system", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "abnormal upper urinary tract", - "abnormal hematopoietic system", - "hematopoietic system", - "abnormal cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormal erythrocyte morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "abnormal size of eyeball of camera-type eye", - "nose tip", - "nose", - "Abnormality of the nose", - "flattened anatomical entity in independent continuant", - "olfactory organ", - "curvature anatomical entity", - "Abnormal external nose morphology", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "flat nose tip", - "external male genitalia", - "Hypoplasia of penis", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal external genitalia", - "decreased size of the external male genitalia", - "Abnormal renal morphology", - "abnormal external genitalia", - "External genital hypoplasia", - "Abnormal penis morphology", - "abnormal penis", - "male reproductive system", - "anatomical cavity", - "abnormal incomplete closing of the secondary palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal midface morphology", - "Orofacial cleft", - "abnormal roof of mouth morphology", - "Craniofacial cleft", - "Abnormal metencephalon morphology", - "Cerebellar hypoplasia", - "Eumetazoa", - "regional part of brain", - "segmental subdivision of nervous system", - "abnormal cerebellum morphology", - "hindbrain", - "external genitalia", - "cerebellum", - "metencephalon", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal metencephalon morphology", - "Abnormal midface morphology", - "regional part of nervous system", - "delayed myelination", - "abnormal hindbrain morphology", - "cerebellum hypoplasia", - "root", - "Feeding difficulties", - "abnormality of digestive system physiology", - "Esophageal atresia", - "esophagus atresia", - "Chromosomal breakage induced by crosslinking agents", - "Neurodevelopmental abnormality", - "Abdominal symptom", - "Abnormal reproductive system morphology", - "abnormal kidney", - "abnormal reproductive system", - "bone marrow cell", - "internal female genitalia", - "Wide nasal bridge", - "abnormal internal female genitalia morphology", - "female organism", - "abnormal female reproductive system", - "Abnormality of the uterus", - "internal genitalia", - "aplasia or hypoplasia of eyeball of camera-type eye", - "uterus", - "abnormal uterus", - "genitourinary system", - "Abnormal morphology of female internal genitalia", - "Aplasia of the uterus", - "reproductive structure", - "abnormal reproductive system morphology", - "female reproductive system", - "aplasia or hypoplasia of uterus", - "oviduct", - "erythrocyte", - "subdivision of oviduct", - "absent anatomical entity in the head", - "absent external ear", - "Anotia", - "absent external ear in the head", - "abnormal biological_process in nervous system", - "absent anatomical entity in the ear", - "decreased embryo development", - "changed embryo development rate", - "multicellular organism development", - "abnormal genitourinary system", - "changed developmental process rate", - "decreased qualitatively developmental process", - "decreased developmental process", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Intrauterine growth retardation", - "Hypoplastic male external genitalia", - "anatomical structure development", - "abnormal embryo development", - "aplastic forelimb zeugopod bone", - "Aplasia/Hypoplasia of the radius", - "Aplasia involving bones of the extremities", - "Aplasia/Hypoplasia of the cerebellum", - "forelimb zeugopod", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "limb long bone", - "Aplasia/hypoplasia involving forearm bones", - "embryo development", - "abnormal radius bone morphology", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormality of the female genitalia", - "abnormal forelimb zeugopod morphology", - "arm bone", - "forelimb long bone", - "forelimb zeugopod skeleton", - "delayed biological_process in central nervous system", - "Abnormal forearm bone morphology", - "absent forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", - "zeugopod", - "Abnormality of the genital system", - "intramembranous bone", + "UPHENO:0002772", + "UPHENO:0025961", + "UPHENO:0088116", + "UPHENO:0009391", + "UPHENO:0081788", + "UPHENO:0026940", + "HP:0008684", + "UPHENO:0002971", + "UPHENO:0080325", + "UPHENO:0006161", + "UPHENO:0002815", + "UPHENO:0081091", + "UBERON:0010758", + "UPHENO:0002994", + "UBERON:0003129", + "HP:0000315", + "UBERON:0010313", + "CL:0000081", + "UBERON:0012360", + "UBERON:0007375", + "UPHENO:0081314", + "HP:0011821", + "HP:0009118", + "HP:0000347", + "HP:0031816", + "HP:0000929", + "UPHENO:0025708", + "HP:0000736", + "UPHENO:0026023", + "UPHENO:0011563", + "HP:0009823", + "UPHENO:0026098", + "HP:0008518", + "UPHENO:0002738", + "UPHENO:0025845", + "UPHENO:0011573", + "UBERON:0004176", + "UBERON:0001423", + "UPHENO:0009209", + "UPHENO:0009295", + "UPHENO:0008703", + "UPHENO:0009356", + "UPHENO:0009021", + "UPHENO:0074231", + "UPHENO:0087472", + "UPHENO:0025176", + "HP:0003953", + "UBERON:0002390", + "UPHENO:0025195", + "UPHENO:0026073", + "UPHENO:0052160", + "UPHENO:0026082", + "HP:0000369", + "UPHENO:0026317", + "UPHENO:0086956", + "UPHENO:0025187", + "UBERON:0001442", + "UBERON:0000167", + "UBERON:0011159", + "UPHENO:0079872", + "UPHENO:0025508", + "UPHENO:0009341", + "UPHENO:0025570", + "UBERON:0002544", + "UBERON:0000060", + "UPHENO:0087585", + "UPHENO:0025166", + "UBERON:0013522", + "UPHENO:0006140", + "UBERON:0003466", + "UPHENO:0086699", + "UBERON:0010913", + "UPHENO:0009399", + "HP:0009822", + "HP:5201015", + "HP:0040070", + "UPHENO:0008709", + "UPHENO:0002977", + "UPHENO:0080099", + "UPHENO:0027020", + "UPHENO:0026312", + "UPHENO:0025776", + "UPHENO:0026407", + "UPHENO:0076800", + "UBERON:0002386", + "UPHENO:0009115", + "UPHENO:0002668", + "UBERON:0003606", + "UPHENO:0025811", + "UPHENO:0025882", + "UPHENO:0025136", + "UPHENO:0076718", + "HP:0003319", + "UPHENO:0009344", + "HP:0002032", + "UPHENO:0009010", + "UPHENO:0002887", + "HP:0008736", + "UPHENO:0008827", + "UPHENO:0011568", + "UPHENO:0026239", + "UPHENO:0075944", + "UPHENO:0027014", + "UBERON:0003126", + "UPHENO:0002967", + "UPHENO:0025652", + "UPHENO:0002637", + "HP:0009121", + "UBERON:0010741", + "UPHENO:0002523", + "UPHENO:0002685", + "UPHENO:0074229", + "UPHENO:0008604", + "HP:0009825", + "UPHENO:0026806", + "UPHENO:0008430", + "UPHENO:0002593", + "UPHENO:0033591", + "UBERON:0005181", + "HP:0006501", + "UPHENO:0011485", + "UBERON:0013701", + "HP:0011017", + "UPHENO:0025808", + "UPHENO:0026095", + "UPHENO:0002902", + "UPHENO:0076754", + "UPHENO:0025546", + "UPHENO:0026096", + "UBERON:0001895", + "UBERON:0002103", + "UPHENO:0025547", + "UBERON:0002037", + "UPHENO:0008640", + "HP:0003974", + "UPHENO:0049874", + "UPHENO:0026280", + "HP:0001167", + "HP:0001510", + "GO:0040007", + "UPHENO:0050034", + "CL:0001035", + "UPHENO:0005642", + "UPHENO:0052694", + "UPHENO:0050068", + "HP:0200006", + "UPHENO:0080382", + "HP:0001000", + "UPHENO:0080393", + "GO:0009790", + "UBERON:0012128", + "UPHENO:0002934", + "UPHENO:0053456", + "UPHENO:0075219", + "HP:0005105", + "UPHENO:0069161", + "UPHENO:0068914", + "UPHENO:0081320", + "UPHENO:0069064", + "HP:0000568", + "UPHENO:0080209", + "UPHENO:0011770", + "UPHENO:0026514", + "UPHENO:0026706", + "UPHENO:0002530", + "HP:0002715", + "UPHENO:0002875", + "UPHENO:0025777", + "UPHENO:0025666", + "UPHENO:0080662", + "UPHENO:0074228", + "UPHENO:0025234", + "UPHENO:0011739", + "HP:0000151", + "UPHENO:0027008", + "GO:0008150", + "UPHENO:0003055", + "UBERON:0000004", + "UBERON:0010740", + "UPHENO:0002642", + "HP:0010460", + "UPHENO:0026014", + "UPHENO:0026509", + "UPHENO:0051450", + "UPHENO:0003053", + "UBERON:0015001", + "UPHENO:0026152", + "UPHENO:0025875", + "UPHENO:0003086", + "UPHENO:0025243", + "UPHENO:0063586", + "HP:0000436", + "UPHENO:0050106", + "UPHENO:0009181", + "UPHENO:0080165", + "UPHENO:0087547", + "UBERON:0000995", + "UBERON:0003134", + "UPHENO:0011847", + "HP:0000130", + "UBERON:0005156", + "HP:0010938", + "UBERON:0003100", + "UPHENO:0005170", + "HP:0001263", + "HP:0003221", + "UPHENO:0063559", + "HP:0020047", + "HP:0011121", + "UBERON:0010000", + "UBERON:0010230", + "UPHENO:0074237", + "UPHENO:0063562", + "UPHENO:0050007", + "UPHENO:0074245", + "UPHENO:0072264", + "UPHENO:0002634", + "UPHENO:0081095", + "UPHENO:0063615", + "UPHENO:0001003", + "UPHENO:0063594", + "UPHENO:0002948", + "HP:0002589", + "UPHENO:0074310", + "UPHENO:0025497", + "UPHENO:0074232", + "UPHENO:0074311", + "UPHENO:0063574", + "HP:0031703", + "HP:0011968", + "UPHENO:0084763", + "UPHENO:0081099", + "UPHENO:0081601", + "NCBITaxon:1", + "UBERON:0000481", + "UPHENO:0011749", + "HP:0000957", + "NCBITaxon:6072", + "UPHENO:0003004", + "UBERON:0004732", + "UBERON:0004086", + "UPHENO:0076720", + "NCBITaxon:131567", + "UPHENO:0005573", + "NCBITaxon:33154", + "HP:0002977", + "UBERON:0005281", + "UPHENO:0080089", + "HP:0011283", + "HP:0008056", + "UBERON:0000063", + "UBERON:0002268", + "UPHENO:0006146", + "UPHENO:0002907", + "UPHENO:0003067", + "HP:0007360", + "HP:0003241", + "UPHENO:0025739", + "HP:0000366", + "UPHENO:0011531", + "UPHENO:0001134", + "UBERON:0008340", + "UBERON:0004089", + "UPHENO:0001303", + "GO:0032501", + "UPHENO:0006147", + "UBERON:0011676", + "HP:0000175", + "UPHENO:0074360", + "UBERON:0000464", + "UPHENO:0011533", + "UPHENO:0076786", + "UPHENO:0033565", + "UPHENO:0052855", + "UPHENO:0033560", + "UPHENO:0033599", + "UPHENO:0025883", + "UPHENO:0033635", + "UPHENO:0002654", + "UBERON:0002553", + "UBERON:0001709", + "UPHENO:0033589", + "UPHENO:0002838", + "CL:0000763", + "UPHENO:0052778", + "HP:0000202", + "UPHENO:0075655", + "HP:0000050", + "HP:0040072", + "UBERON:0004053", + "UBERON:0008811", + "UBERON:0000989", + "UPHENO:0014240", + "UPHENO:0081566", + "UPHENO:0003082", + "HP:0000054", + "UBERON:0005944", + "UBERON:0001716", + "UBERON:0000079", + "HP:0001871", + "UPHENO:0011566", + "UBERON:0006077", + "HP:0010461", + "UPHENO:0076727", + "UPHENO:0002697", + "HP:0001155", + "UBERON:0003101", + "HP:0000032", + "HP:0000119", + "HP:0005528", + "UPHENO:0004459", + "HP:0001903", + "UPHENO:0002693", + "HP:0005561", + "UBERON:0000479", + "HP:0025461", + "UPHENO:0087430", + "UPHENO:0081511", + "HP:0000437", + "UPHENO:0041203", + "CL:0000764", + "UBERON:0002405", + "NCBITaxon:2759", + "HP:0012130", + "CL:0000232", + "UPHENO:0054957", + "UPHENO:0074575", + "UBERON:0002416", + "UBERON:0002199", + "UBERON:0002097", + "HP:0001574", + "GO:0043473", + ], + "has_phenotype_closure_label": [ + "anus", + "anatomical conduit atresia", + "anus morphology phenotype", + "anus phenotype", + "ectoderm-derived structure atresia", + "orifice atresia", + "closing of the ectoderm-derived structure", "Renal hypoplasia", - "mandible hypoplasia", - "bone of lower jaw", - "neural crest-derived structure", - "dentary", - "aplasia or hypoplasia of skull", - "abnormal mouth", - "primary subdivision of skull", - "abnormal hematopoietic cell morphology", - "primary subdivision of cranial skeletal system", - "Micrognathia", - "abnormal male reproductive system", - "abnormal mouth morphology", - "cranial skeletal system", - "dermal bone", - "jaw skeleton", - "facial skeleton", - "immune system", - "facial bone", - "mandible", - "Abnormal mandible morphology", - "paired limb/fin segment", - "multi-limb segment region", - "Anemia", - "radius bone", - "Abnormality of the hand", - "decreased size of the external ear", - "agenesis of anatomical entity", - "paired limb/fin", - "skeleton of lower jaw", - "abnormal digit morphology", - "Aplasia/Hypoplasia of fingers", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "cell development", - "skeleton of manus", - "Hypertelorism", - "pectoral appendage skeleton", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal shape of external ear", + "kidney hypoplasia", + "upper urinary tract", + "absent multicellular anatomical structure in the renal system", + "upper urinary tract phenotype", + "absent compound organ", + "kidney morphology phenotype", + "Renal hypoplasia/aplasia", + "abdomen element phenotype", + "renal system", + "absent compound organ in the renal system", + "excretory system", + "number of anatomical enitites of type kidney phenotype", + "cavitated compound organ", + "absent organ in the renal system", + "absent abdominal segment element in the renal system", + "absent trunk region element in the renal system", + "absent lateral structure in the renal system", + "Abnormal anus morphology", + "compound organ phenotype", + "abdomen", + "absent cavitated compound organ", + "number of anatomical enitites of type cavitated compound organ phenotype", + "absent trunk region element in the multicellular organism", + "renal system phenotype", + "absent cavitated compound organ in the renal system", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "kidney phenotype", + "absent abdomen element", + "number of anatomical enitites of type compound organ phenotype", + "absent anatomical structure in the renal system", + "increased biological_process", + "increased pigmentation in skin of body", + "Irregular hyperpigmentation", + "kidney", + "bony pelvis", + "Abnormal sacrum morphology", + "aplastic manual digit 1", + "trunk region element phenotype", + "aplasia or hypoplasia of vertebral column", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "manus morphology phenotype", + "sacral region", + "reproductive system", + "sacral region of vertebral column phenotype", + "trachea", + "Aplasia/Hypoplasia of the sacrum", + "endoderm-derived structure", + "trunk region element", + "Abnormal pinna morphology", + "dorsal part of neck", + "lateral structure phenotype", + "shape of external ear phenotype", + "Abnormality of the nervous system", + "increased qualitatively biological_process", + "shape of continuant phenotype", + "ear morphology phenotype", + "Abnormality of the face", + "eyelid", + "appendage girdle complex", + "absent mesoderm-derived structure in the forelimb", + "Abnormality of the orbital region", + "roof of mouth", + "Slanting of the palpebral fissure", + "Aplasia/Hypoplasia of the external ear", + "absent uterus", + "Abnormal eyelid morphology", + "incomplete closing of the structure with developmental contribution from neural crest", + "ocular adnexa phenotype", + "metencephalon", + "face phenotype", "Reduced attention regulation", + "head morphology phenotype", + "forelimb skeleton", + "absent organism subdivision in the head", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "orbital region", + "non-connected functional system", + "palpebral fissure phenotype", + "orifice phenotype", + "eyelid morphology phenotype", + "male reproductive organ", + "multi organ part structure phenotype", + "Abnormality of the head", + "increased length of the anatomical line between pupils", + "face morphology phenotype", + "negative regulation of cellular process", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "absent kidney", + "decreased social inhibition", + "immaterial entity", + "negative regulation of cellular biosynthetic process", + "organ subunit", + "homeostatic process", + "attention behavior", + "metabolic process", + "negative regulation of cellular metabolic process", + "Eukaryota", + "negative regulation of biological process phenotype", + "closing of the subdivision of digestive tract", + "Abnormal cellular phenotype", + "regulation of cellular process phenotype", + "regulation of metabolic process phenotype", + "tracheobronchial tree morphology phenotype", + "nose tip", + "zeugopod", + "absent material anatomical entity in the renal system", + "regulation of cellular metabolic process phenotype", "negative regulation of macromolecule biosynthetic process", - "abnormal arm", - "head", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal nose", - "Aplasia/Hypoplasia of the mandible", - "aplastic anatomical entity", - "anterior region of body", - "appendage", - "subdivision of organism along appendicular axis", - "autopod region", - "digit 1", - "Hyperactivity", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "sensory system", + "negative regulation of cellular process phenotype", + "limb morphology phenotype", + "biological regulation phenotype", + "pigmentation phenotype", + "autopodial extension", + "manual digit 1", + "decreased size of the ectoderm-derived structure", "ear", + "regulation of cellular biosynthetic process phenotype", + "subdivision of digestive tract", + "digestive system", + "obsolete cell", + "anatomical entity morphology phenotype", + "central nervous system", + "Abnormality of limb bone", + "subdivision of organism along main body axis", + "dermal skeletal element", + "number of anatomical enitites of type organ part phenotype", + "external ear", + "structure with developmental contribution from neural crest phenotype", + "increased number of organ part", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "bone of craniocervical region", + "intromittent organ phenotype", + "alimentary part of gastrointestinal system morphology phenotype", + "eyeball of camera-type eye", + "hindbrain morphology phenotype", + "increased number of organ component layer in the cerebrospinal fluid", + "subdivision of head", + "increased number of ectoderm-derived structure", + "system", + "regulation of gene expression phenotype", + "subdivision of head phenotype", + "number of anatomical enitites of type skeletal element phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Hypertelorism", + "Morphological central nervous system abnormality", + "Absent radius", + "Abnormal skin morphology", + "subdivision of vertebral column phenotype", + "Abnormality of the outer ear", + "programmed DNA elimination by chromosome breakage phenotype", + "Abnormal tracheal morphology", + "bodily fluid", + "multi-tissue structure", + "increased number of ectoderm-derived structure in the cerebrospinal fluid", + "Abnormality of the digestive system", + "cerebrospinal fluid", + "organism substance", + "organ part phenotype", + "increased number of multicellular anatomical structure", + "fused sacrum", + "increased number of anatomical structure", + "ventricle of nervous system phenotype", + "transudate", + "cerebellum phenotype", + "brain ventricle morphology phenotype", + "absent anatomical entity in the reproductive system", + "subdivision of tube", + "respiratory airway", + "incomplete closing of the roof of mouth", + "brain ventricle/choroid plexus phenotype", + "digestive system phenotype", + "respiratory system", + "regulation of gene expression", + "pectoral appendage", + "absent bone of appendage girdle complex in the forelimb", + "absent skeletal element in the forelimb", + "increased number of material anatomical entity in the cerebrospinal fluid", + "digestive tract", + "camera-type eye morphology phenotype", + "pelvic region element phenotype", + "viscus", + "vertebral element", + "reproductive organ phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "Abnormality of the respiratory system", + "Abnormal respiratory system physiology", + "thoracic segment of trunk", + "compound organ", + "eye", + "axon ensheathment in central nervous system", + "Aplasia/Hypoplasia of the ear", + "Tracheoesophageal fistula", + "absent anatomical structure in the reproductive system", + "programmed DNA elimination", + "Abnormality of the gastrointestinal tract", + "Abnormal volitional state", + "ventricular system of brain", + "number of anatomical enitites of type organ component layer phenotype", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "manual digitopodium region", + "Abnormality of the male genitalia", + "external ear phenotype", + "Abnormality of blood and blood-forming tissues", + "visual system", + "lower respiratory tract", + "flat anatomical entity", + "alimentary part of gastrointestinal system phenotype", + "regulation of metabolic process", + "pectoral appendage skeleton", + "pes", + "absent trunk region element", + "intramembranous bone phenotype", + "skull phenotype", + "female reproductive system phenotype", + "orifice", + "upper digestive tract", + "anatomical system", + "increased number of brain ventricle/choroid plexus", + "membrane bone", + "bone of pectoral complex morphology phenotype", + "tracheobronchial tree", + "abdominal segment of trunk", + "Global developmental delay", + "organ atresia", + "alimentary part of gastrointestinal system", + "Aplasia/hypoplasia involving the skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "absent organ part", + "number of anatomical enitites of type anatomical entity phenotype", + "absent digit", + "Abnormal esophagus morphology", + "absent forelimb endochondral element", + "bone of appendage girdle complex phenotype", + "absent material anatomical entity in the limb", + "behavior process", + "limb bone phenotype", + "autopod region morphology phenotype", + "Abnormal hand morphology", + "Metazoa", + "absent limb endochondral element", + "Micropenis", + "Abnormality of limbs", + "Abnormal affect", + "organ part", + "number of anatomical enitites of type organism subdivision phenotype", + "head bone phenotype", + "cavitated compound organ phenotype", + "Abnormal ocular adnexa morphology", + "subdivision of organism along appendicular axis phenotype", + "jaw region", + "renal system morphology phenotype", + "Abnormality of the female genitalia", + "mesoderm-derived structure phenotype", + "pelvic region of trunk", + "palpebral fissure", + "pectoral complex", + "head", + "disconnected anatomical group", + "absent multicellular anatomical structure in the multicellular organism", + "internal genitalia phenotype", + "esophagus", + "sacral region of vertebral column", + "central nervous system development", + "hemolymphoid system", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "Abnormality of the kidney", + "orbital region phenotype", + "biological regulation", + "Abnormal penis morphology", + "anatomical collection phenotype", + "quality", + "aplasia or hypoplasia of external ear", + "decreased size of the sense organ", + "Abnormally increased volition", + "Abnormal renal morphology", + "radius endochondral element", + "dorsum", + "closing of the anatomical structure", + "cervical region", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "subdivision of organism along main body axis phenotype", + "cervical vertebra endochondral element phenotype", + "brain ventricle phenotype", + "material anatomical entity", + "skin of body morphology phenotype", + "decreased size of the organism subdivision", + "digit plus metapodial segment", + "external soft tissue zone", + "skeletal element phenotype", + "limb bone morphology phenotype", + "nervous system process", + "anatomical structure physiology phenotype", + "facial bone phenotype", + "bone element", + "aplasia or hypoplasia of cerebellum", + "anatomical structure", + "musculature of body", + "ear phenotype", + "decreased qualitatively biological_process", + "anatomical entity", + "main body axis", + "organism subdivision", + "absent endochondral element in the limb", + "decreased size of the anatomical structure", + "organ", + "vertebral element phenotype", + "vertebra", + "Abnormal forearm morphology", + "proximo-distal subdivision of respiratory tract", + "brain ventricle/choroid plexus", + "Short attention span", + "system process", + "external male genitalia hypoplasia", + "Abnormality of globe size", + "Hypoplastic sacrum", + "Aplasia/Hypoplasia of facial bones", + "increased number of anatomical structure in the cerebrospinal fluid", + "craniocervical region phenotype", + "abdominal segment bone", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "nervous system morphology phenotype", + "developmental process", + "cell phenotype", "anatomical entity hypoplasia in face", - "non-connected functional system", - "manual digit", - "Abnormal eye morphology", - "abnormal head morphology", - "Abnormality of the outer ear", - "multi-tissue structure", - "bodily fluid", - "abnormal external nose morphology", - "absent radius bone in the independent continuant", - "neck bone", - "entire sense organ system", - "continuant", - "orbital region", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", + "opening of the anatomical entity", + "increased number of ventricle of nervous system in the cerebrospinal fluid", + "skeletal system morphology phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "manus", + "increased size of the immaterial anatomical entity", + "neck", + "absent anatomical structure", + "absent external ear", + "increased size of the ectoderm-derived structure", + "pelvic region element", + "material entity", + "negative regulation of biosynthetic process", + "long bone", + "ocular adnexa", + "female reproductive organ", + "Abnormality of head or neck", "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormal tracheobronchial morphology", - "Aplasia/hypoplasia of the extremities", - "Hypoplastic facial bones", - "forelimb bone", - "anatomical entity hypoplasia", - "Abnormality of brain morphology", - "abnormal size of anatomical entity", - "Abnormality of the vertebral column", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "trunk", - "Macule", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "postcranial axial skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "cervical vertebra", - "jaw region", - "abnormal head", - "endochondral bone", - "subdivision of skeleton", + "anatomical entity length phenotype", + "decreased length of material anatomical entity", + "delayed axon ensheathment in central nervous system", + "organ phenotype", + "absent bone of appendage girdle complex", + "increased number of organ component layer", + "anatomical system physiology phenotype", + "nervous system", + "head phenotype", + "forelimb zeugopod bone", + "aplastic anatomical entity", + "anterior region of body", + "appendicular skeleton", + "Abnormal cerebellum morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "absent anatomical entity in the forelimb", + "abdominal segment element phenotype", + "Finger aplasia", + "aplasia or hypoplasia of ear", + "independent continuant", + "anatomical line between pupils", + "number of anatomical enitites of type trunk region element phenotype", + "increased size of the non-material anatomical boundary", + "negative regulation of gene expression phenotype", + "segment of autopod", + "musculature phenotype", + "aplasia or hypoplasia of skull", "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "dorsal part of neck", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "Aplasia/Hypoplasia of the ear", - "external ear", - "abnormal neck morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "vertebral column", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "paired limb/fin skeleton", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "regulation of biosynthetic process phenotype", + "anatomical system phenotype", + "central nervous system morphology phenotype", + "cervical vertebra endochondral element", + "Abnormal limb bone morphology", + "decreased length of neck", + "postcranial axial skeleton", + "multicellular organism", + "skeleton", + "negative regulation of gene expression", + "vertebra phenotype", + "upper jaw region", + "nervous system physiology phenotype", + "absent anatomical entity in the limb", + "number of anatomical enitites of type reproductive structure phenotype", + "organ system subdivision", + "closing of the multicellular anatomical structure", + "trunk", + "Abnormality of the vertebral column", + "irregular bone phenotype", + "digit 1 or 5 phenotype", + "respiratory tube", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "organ system subdivision phenotype", + "regulation of biological process phenotype", + "absent multicellular anatomical structure", + "number of anatomical enitites of type endochondral element phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "vertebral column phenotype", + "autopodial extension phenotype", + "abdominal segment element", + "musculoskeletal system", + "Short neck", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", "skeleton of limb", + "neck morphology phenotype", + "Abnormality of the urinary system", + "closing of the subdivision of tube", + "subdivision of skeletal system", + "entity", + "dermatocranium", + "Abnormal axial skeleton morphology", + "trunk or cervical vertebra phenotype", + "absent endochondral bone in the forelimb", + "bone of dorsum phenotype", + "trunk or cervical vertebra", + "Recurrent maladaptive behavior", + "ventricular system of central nervous system", + "neck bone", + "regulation of cellular process", + "lower limb segment phenotype", + "absent forelimb long bone in the forelimb", + "Phenotypic abnormality", + "cervical vertebra", + "neck phenotype", + "increased number of anatomical entity", + "craniocervical region", + "axon ensheathment phenotype", + "neck bone phenotype", + "Anal atresia", + "anatomical conduit", + "multicellular anatomical structure phenotype", + "reproductive system phenotype", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "incomplete closing of the anatomical entity", + "nose tip phenotype", + "endochondral element phenotype", + "Abnormality of the neck", + "decreased behavior", + "Abnormal reproductive system morphology", + "delayed ensheathment of neurons", + "Abdominal symptom", + "dermal bone phenotype", + "phenotype", + "brain", + "glial cell development", + "anatomical space", + "cognitive behavior", + "decreased size of the multicellular anatomical structure", + "increased biological_process in skin of body", + "digit 1 or 5", + "bone of jaw", + "absent anatomical entity in the renal system", + "incomplete closing of the material anatomical entity", + "decreased length of multicellular anatomical structure", + "Chromosome breakage", + "paired limb/fin", "Delayed myelination", + "number of anatomical enitites of type material anatomical entity phenotype", + "bone of jaw phenotype", "Abnormality of skin pigmentation", - "shape nose tip", - "Abnormality of globe location", - "Aplasia/Hypoplasia involving the central nervous system", - "Short neck", - "skeleton", - "cervical vertebra endochondral element", - "decreased length of neck", - "Abnormality of head or neck", - "bone of dorsum", - "external soft tissue zone", - "digit plus metapodial segment", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal bone marrow cell morphology", - "bone of free limb or fin", - "bone element", - "Abnormality of the eye", - "abnormal pes morphology", - "anatomical collection", + "size of anatomical entity phenotype", + "Abnormal brain morphology", + "skeleton of lower jaw", + "bone of free limb or fin phenotype", + "Attention deficit hyperactivity disorder", + "snout morphology phenotype", + "anatomical entity phenotype", + "mandible phenotype", + "axial skeletal system", + "Growth abnormality", + "number of anatomical enitites of type abdominal segment element phenotype", + "organism", + "secondary palate", + "vertebral column", + "thoracic cavity element", + "Abnormal nasal morphology", + "absent autopodial extension", + "decreased length of anatomical entity", + "bone of pectoral complex", + "nasal bridge", + "decreased length of organism subdivision", + "bone of lower jaw", + "simple eye", + "cervical vertebra phenotype", + "sensory system", + "endochondral element", + "anatomical entity hypoplasia", + "forelimb bone", + "decreased length of anatomical structure", + "agenesis of anatomical entity", "All", - "increased qualitatively biological_process", - "decreased size of the anatomical entity in the independent continuant", - "system", - "abnormal female reproductive system morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "neurogenesis", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "skeletal element", - "nucleic acid metabolic process", - "Abnormal myeloid cell morphology", - "leg", - "process", + "nervous system phenotype", + "regulation of macromolecule metabolic process phenotype", + "Abnormality of the skin", + "biological_process rate phenotype", + "skeletal system", "Abnormality of the ear", - "eyelid", - "Renal agenesis", - "abnormal respiratory system", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "entity", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "biological_process", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "Abnormal neck morphology", - "negative regulation of gene expression", - "response to stimulus", - "flattened anatomical entity", - "bone element hypoplasia in face", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "vestibulo-auditory system", - "protein-DNA complex organization", - "Abnormal anus morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "cell differentiation", - "appendicular skeletal system", - "Eukaryota", - "negative regulation of cellular metabolic process", - "cervical region", - "dorsum", - "Abnormal nasal bridge morphology", - "erythroid lineage cell", - "non-material anatomical boundary", - "postcranial axial skeletal system", - "organelle organization", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of the gastrointestinal tract", - "quality", - "aplasia or hypoplasia of ear", - "absent external ear in the independent continuant", - "regulation of cellular biosynthetic process", - "proximo-distal subdivision of respiratory tract", - "behavior process", - "absent anatomical entity in the reproductive system", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "lateral structure", - "regulation of biological process", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal DNA metabolic process", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Depressed nasal tip", + "endochondral bone phenotype", + "Abnormal social development", + "cognition", + "uterus phenotype", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "face", + "aplasia or hypoplasia of manual digit", + "esophagus morphology phenotype", + "subdivision of organism along appendicular axis", + "craniofacial/craniocervical phenotype", + "absent anatomical structure in the multicellular organism", + "body proper", + "dorsal region element", + "taxon specific phenotype", + "skeletal element", + "Abnormality of the immune system", + "Absent thumb", + "bone of free limb or fin", + "Abnormal ear morphology", + "Abnormal finger morphology", + "absent organism subdivision in the multicellular organism", + "craniocervical region morphology phenotype", + "tube", + "increased number of ventricle of nervous system", + "aplasia or hypoplasia of skeleton", + "appendicular skeleton morphology phenotype", + "occurrent", + "multicellular organismal process phenotype", + "increased number of material anatomical entity", + "absent anatomical structure in the limb", + "decreased qualitatively multicellular organismal process", + "absent abdominal segment element", + "Unilateral renal agenesis", + "Abnormal thumb morphology", + "subdivision of trunk", + "digitopodium region", + "thoracic segment organ atresia", + "Aplasia/Hypoplasia of fingers", + "mouth morphology phenotype", + "genitourinary system phenotype", "Abnormality of mental function", - "abnormal cellular process", - "nasal bridge", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", + "Depressed nasal tip", + "decreased multicellular organismal process", + "upper limb segment phenotype", + "Cognitive impairment", "Webbed neck", + "absent material anatomical entity in the multicellular organism", "Talipes", - "cellular metabolic process", - "Atypical behavior", - "simple eye", - "cellular component organization", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "midface", - "abnormal cellular component organization", - "abnormal trachea morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "negative regulation of biological process", - "absent digit", - "glial cell development", - "anatomical space", - "Abnormal hindbrain morphology", - "phenotype", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal face", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormal respiratory system morphology", - "cervical region of vertebral column", - "aplasia or hypoplasia of external ear", - "pes", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "obsolete nitrogen compound metabolic process", - "lower jaw region", - "abnormal digit", - "thoracic segment of trunk", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "metabolic process", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "Abnormality of the palpebral fissures", - "pelvic region element", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "secondary palate", - "organism", - "irregular bone", - "Chromosome breakage", - "abnormal chromatin organization", - "Abnormal cellular phenotype", - "curvature anatomical entity in independent continuant", - "negative regulation of cellular process", - "abnormal limb", - "Abnormality of digestive system morphology", - "radius endochondral element", - "abnormal behavior", - "Abnormal sacrum morphology", - "aplastic manual digit 1", - "membrane bone", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", - "independent continuant", - "Microtia", - "Abnormality of the neck", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", + "subdivision of vertebral column", + "absent manual digit", + "social inhibition", + "dorsal region element phenotype", + "material anatomical entity physiology phenotype", + "Abnormal digit morphology", + "material anatomical entity phenotype", + "Reduced social responsiveness", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "anatomical entity morphology in the manus phenotype", + "Abnormality of the nose", + "absent material anatomical entity in the forelimb", + "absent multicellular anatomical structure in the head", + "Abnormal neck morphology", + "protein-containing material entity", + "segment of manus", + "sense organ phenotype", + "anatomical conduit phenotype", + "axial skeleton plus cranial skeleton", + "neurogenesis", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "cerebellum morphology phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "Abnormality of the ocular adnexa", + "Opisthokonta", + "Abnormality of the hand", + "Anemia", + "absent multicellular anatomical structure in the forelimb", + "decreased size of the anatomical entity", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "forelimb morphology phenotype", + "absent skeletal element in the limb", + "digit", + "decreased qualitatively multicellular organism development", + "Aplasia/hypoplasia involving bones of the extremities", + "absent mesoderm-derived structure", + "paired limb/fin phenotype", + "Abnormal internal genitalia", + "autopod region phenotype", + "brain morphology phenotype", + "absent mesoderm-derived structure in the limb", + "abdomen element", + "homeostatic process phenotype", + "behavior", + "Renal agenesis", + "Cleft palate", + "Abnormal appendicular skeleton morphology", + "absent bone element in the forelimb", + "limb endochondral element", + "organ component layer", + "penis hypoplasia", + "autopodial skeleton", + "digit 1 phenotype", + "multi organ part structure", + "Abnormal facial skeleton morphology", + "closing of the anatomical conduit", + "developmental process rate phenotype", + "camera-type eye", + "fused sacrum phenotype", + "trunk bone", + "manual digit 1 plus metapodial segment", + "lateral structure", + "increased number of organ part in the cerebrospinal fluid", + "Abnormality of the cervical spine", + "increased pigmentation", + "Abnormal skeletal morphology", + "external ear hypoplasia", + "axon ensheathment in central nervous system phenotype", + "number of anatomical enitites of type lateral structure phenotype", + "manual digit", + "arm", + "increased number of brain ventricle in the cerebrospinal fluid", + "anatomical wall", + "absent bone of free limb or fin", + "bone of appendage girdle complex", + "regulation of biological process", + "decreased multicellular organism development", + "Abnormality of the anus", + "digit 1 plus metapodial segment", + "cerebrospinal fluid morphology phenotype", + "respiratory system physiology phenotype", + "Abnormal nervous system physiology", + "paired limb/fin skeleton", + "esophagus phenotype", + "limb phenotype", + "skeleton phenotype", + "paired limb/fin segment", + "erythrocyte morphology phenotype", + "Abnormal bone marrow cell morphology", + "acropodium region", + "absent anatomical structure in the forelimb", + "multi-limb segment region", + "Abnormal social behavior", + "ventricle of nervous system", + "anatomical point", + "subdivision of digestive tract phenotype", + "number of anatomical enitites of type anatomical structure phenotype", + "skeleton of manus", + "cell development", + "manus phenotype", + "continuant", + "hindlimb", + "external ear morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "absent organism subdivision", + "digit 1", + "Hyperactivity", + "absent organ in the multicellular organism", + "mesoderm-derived structure", + "Aplasia/Hypoplasia of the thumb", + "cell", + "Abnormality of the mouth", + "limb", + "limb long bone morphology phenotype", + "absent subdivision of oviduct in the female reproductive system", + "increased size of the material anatomical entity", + "Abnormality of the upper limb", + "reproductive system morphology phenotype", + "endochondral bone", + "subdivision of skeleton", + "Abnormality of the skeletal system", + "bone of dorsum", + "sensation behavior", + "digit morphology phenotype", + "Aplasia/Hypoplasia involving the vertebral column", + "location of anatomical entity phenotype", + "skull", + "absent material anatomical entity in the skeletal system", + "limb endochondral element phenotype", "ensheathment of neurons", - "regulation of cellular process", - "manus", - "abnormal eyelid morphology", + "increased length of the non-material anatomical boundary", + "fused sacrum hypoplasia", + "forelimb zeugopod morphology phenotype", + "trunk bone phenotype", + "penis", + "increased size of the anatomical line", + "number of anatomical enitites of type abdomen element phenotype", + "Abnormality of globe location", + "shape nose tip", + "non-material anatomical boundary", + "absent limb bone in the forelimb", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "anatomical line", + "decreased qualitatively anatomical structure development", + "immaterial anatomical entity phenotype", + "non-material anatomical boundary phenotype", + "absent multicellular anatomical structure in the limb", + "Abnormality of the eye", + "increased length of the immaterial anatomical entity", + "subdivision of oviduct phenotype", + "ectoderm-derived structure phenotype", + "regulation of biosynthetic process", + "immaterial anatomical entity", + "Abnormal digestive system morphology", + "Abnormal CNS myelination", + "increased length of the anatomical line", + "viscus phenotype", + "regional part of nervous system", + "Abnormal midface morphology", + "location of eyeball of camera-type eye phenotype", + "anatomical line phenotype", + "organism subdivision phenotype", + "Hypoplastic facial bones", + "respiratory system phenotype", + "absent multicellular anatomical structure in the skeletal system", + "delayed biological_process", + "multicellular organism morphology phenotype", + "absent anatomical structure in the head", + "axon ensheathment", + "delayed myelination", + "glial cell differentiation", + "myelination", + "absent subdivision of tube in the female reproductive system", + "myelination phenotype", + "root", + "delayed central nervous system myelination", + "multicellular organism development", + "Hypoplastic male external genitalia", + "ensheathment of neurons phenotype", + "appendage", + "central nervous system myelination phenotype", + "skeletal system phenotype", + "Abnormal mandible morphology", + "anatomical structure development", + "oligodendrocyte development", + "absent anatomical entity", + "decreased size of the eyeball of camera-type eye", + "central nervous system myelination", + "bone of lower jaw phenotype", + "Abnormal myelination", "cellular process", - "Abnormal digit morphology", - "neck", - "abnormal central nervous system myelination", - "organ subunit", - "negative regulation of cellular biosynthetic process", - "forelimb zeugopod bone", - "nervous system", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "abnormal anatomical entity", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "anatomical system", - "upper digestive tract", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "orifice", - "multicellular organism", - "regulation of macromolecule biosynthetic process", - "female reproductive organ", - "long bone", - "material entity", - "negative regulation of biosynthetic process", - "decreased size of the penis", + "long bone morphology phenotype", + "delayed cellular process", + "dermal skeleton", + "phenotypic effect", + "female reproductive system", + "cellular process phenotype", + "limb segment", + "external genitalia phenotype", + "cellular developmental process", + "limb long bone phenotype", + "facial skeleton morphology phenotype", + "nervous system development", + "anatomical structure phenotype", + "decreased anatomical structure development", + "Talipes equinovarus", + "leg", "Abnormality of the lower limb", - "endochondral element", - "abnormal neck", - "abnormal brain ventricle morphology", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal behavior process", - "abnormal ear morphology", - "cellular organisms", + "Hypermelanotic macule", + "lower limb segment", + "Abnormal palate morphology", + "Abnormality of digestive system physiology", + "Abnormal cell morphology", + "leg phenotype", + "subdivision of skeletal system phenotype", + "incomplete closing of the secondary palate", + "integument", + "pelvic appendage", + "pes morphology phenotype", + "internal genitalia", + "Bilateral talipes equinovarus", + "Aplasia/hypoplasia of the uterus", + "Hyperpigmentation of the skin", + "Positional foot deformity", + "absent anatomical entity in the multicellular organism", + "Microphthalmia", + "pelvic complex", + "posterior region of body", + "hindlimb morphology phenotype", + "Decreased external ear position", "Decreased anatomical entity position", - "increased size of the anatomical entity", - "limb", - "main body axis", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cellular component organization or biogenesis", + "cellular organisms", + "regulation of cellular metabolic process", + "arm phenotype", + "location of ear phenotype", + "skeleton of pectoral complex", + "specifically dependent continuant", + "Abnormal location of ears", + "Low-set ears", + "irregular bone", + "Abnormal jaw morphology", + "digestive system morphology phenotype", + "absent bone of pectoral complex in the limb", + "intramembranous bone", + "Abnormality of the genital system", + "mouth", + "Aplasia/Hypoplasia of the mandible", + "primary subdivision of cranial skeletal system", + "absent forelimb endochondral element in the limb", + "embryo development rate phenotype", + "Aplasia/Hypoplasia involving bones of the skull", + "absent radius endochondral element", + "aplasia or hypoplasia of mandible", + "facial bone hypoplasia", + "Abnormality of the genitourinary system", + "bone of craniocervical region phenotype", + "digestive system element phenotype", + "Abnormal eye morphology", + "head bone morphology phenotype", + "manual digit morphology in the manus phenotype", + "neural crest-derived structure phenotype", + "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", + "absent subdivision of head in the head", + "dentary phenotype", + "metencephalon morphology phenotype", + "regulation of macromolecule biosynthetic process", + "mandible", + "increased number of brain ventricle", + "facial bone", + "immune system", + "facial skeleton", + "absent abdomen element in the renal system", + "jaw skeleton", + "dermal bone", + "absent radius bone", + "cranial skeletal system", + "Wide nasal bridge", + "postcranial axial skeletal system", + "absent multicellular anatomical structure in the ear", + "primary subdivision of skull", + "thoracic segment organ phenotype", + "Micrognathia", + "bone element hypoplasia in face", + "flattened anatomical entity", + "neural crest-derived structure", + "dermal skeletal element phenotype", + "nasal bridge morphology phenotype", + "absent kidney in the renal system", + "subdivision of tube phenotype", + "Abnormality of the uterus", + "membrane bone phenotype", + "Abnormal oral morphology", + "absent arm bone in the forelimb", + "Abnormal skull morphology", + "skull morphology phenotype", + "Delayed CNS myelination", + "oral cavity", + "organ component layer phenotype", + "behavior process phenotype", "programmed DNA elimination by chromosome breakage", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "axial skeletal system", - "Growth abnormality", - "skeletal system", - "decreased size of the cerebellum", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "subdivision of vertebral column", - "absent manual digit", - "abnormal development of anatomical entity", - "Abnormal thumb morphology", - "subdivision of trunk", - "axon ensheathment in central nervous system", - "eye", - "compound organ", - "decreased qualitatively biological_process", - "anatomical entity", - "digit", - "Unilateral renal agenesis", - "Abnormal cerebellum morphology", - "upper limb segment", - "appendicular skeleton", - "Abnormal skeletal morphology", - "forelimb", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "abnormal primary metabolic process", - "body proper", - "abnormal opening of the anatomical entity", - "dorsal region element", - "chromatin organization", - "Reduced impulse control", - "abnormal location of external ear", - "abnormal nervous system", - "Attention deficit hyperactivity disorder", - "abnormal leg", - "craniocervical region", - "posterior region of body", - "Cleft palate", - "behavior", - "Abnormal appendicular skeleton morphology", - "Abnormal forearm morphology", - "vertebra", - "decreased length of anatomical entity in independent continuant", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal vertebral column", - "subdivision of head", - "appendage girdle complex", - "dermal skeletal element", - "subdivision of organism along main body axis", - "developmental process", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abdominal segment bone", - "abnormal facial skeleton morphology", - "material anatomical entity", - "trachea", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "abnormal skeletal system morphology", - "protein-containing material entity", - "segment of manus", - "Abnormality of the musculoskeletal system", - "organ system subdivision", - "Abnormality of the anus", + "dentary", + "lower jaw region", + "Abnormal metencephalon morphology", + "absent skeletal element", + "Aplasia involving bones of the extremities", + "Aplasia involving forearm bones", + "absent forelimb bone in the forelimb", + "radius bone morphology phenotype", + "absent radius endochondral element in the forelimb", + "absent limb bone in the limb", + "aplastic forelimb zeugopod bone", + "zeugopodial skeleton", + "forelimb long bone", + "arm bone", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "mandible hypoplasia", + "Aplasia involving bones of the upper limbs", "shape anatomical entity", - "ventricular system of brain", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of digestive system physiology", - "absent anatomical entity", + "absent forelimb zeugopod bone in the forelimb", + "forelimb endochondral element", + "increased width of material anatomical entity", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "Aplasia/Hypoplasia of the cerebellum", + "entire sense organ system", + "decreased rate of behavior process", + "absent bone of pectoral complex", + "absent subdivision of oviduct", + "regulation of cellular biosynthetic process", + "absent limb endochondral element in the forelimb", + "number of anatomical enitites of type endochondral bone phenotype", + "delayed axon ensheathment", + "number of anatomical enitites of type organ phenotype", + "closing of the organ part", + "absent forelimb endochondral element in the forelimb", + "closing of the thoracic segment organ", + "absent endochondral bone in the limb", + "autopod region", + "absent anatomical structure in the ear", + "cell differentiation", + "forelimb zeugopod bone morphology phenotype", + "tissue", + "absent anatomical structure in the skeletal system", + "trunk region element atresia", + "absent bone of free limb or fin in the forelimb", + "radius bone phenotype", + "forelimb long bone phenotype", + "number of anatomical enitites of type bone element phenotype", + "aplasia or hypoplasia of fused sacrum", + "absent limb long bone in the forelimb", + "absent forelimb bone in the limb", + "Abnormal morphology of the radius", + "absent bone element", + "absent forelimb bone", + "absent endochondral element in the forelimb", + "decreased size of the organ", + "absent organ", + "absent bone of appendage girdle complex in the limb", + "hindbrain", + "decreased size of the material anatomical entity", "Absent forearm bone", - "abnormal manual digit 1 morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal palate morphology", - "skeleton of pectoral complex", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "absent anatomical entity in the limb", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "dermal skeleton", - "aplasia or hypoplasia of manual digit 1", - "anatomical conduit", - "abnormal limb morphology", - "abdomen", - "manual digit 1 plus metapodial segment", - "trunk bone", - "bone of appendage girdle complex", - "anatomical wall", - "arm", - "mesoderm-derived structure", - "Abnormal facial skeleton morphology", - "autopodial skeleton", - "forelimb skeleton", - "delayed biological_process in independent continuant", - "digitopodium region", - "abnormal growth", - "pelvic complex", - "acropodium region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the manus", - "Finger aplasia", - "macromolecule metabolic process", - "pelvic region of trunk", - "palpebral fissure", - "fused sacrum hypoplasia", - "nucleobase-containing compound metabolic process", - "Short attention span", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal internal genitalia", - "aplasia or hypoplasia of vertebral column", - "abnormal fused sacrum morphology", - "skull", - "limb skeleton subdivision", - "Aplasia/Hypoplasia involving the vertebral column", - "abnormal craniocervical region", - "sacral region of vertebral column", + "oviduct", + "forelimb bone phenotype", + "absent limb bone", + "Aplasia/Hypoplasia of the radius", + "absent organ in the limb", + "behavior phenotype", + "segmental subdivision of hindbrain", + "absent endochondral element", + "absent organ in the forelimb", + "arm bone phenotype", + "Abnormal hindbrain morphology", + "delayed growth", + "negative regulation of macromolecule metabolic process", + "Atypical behavior", "Abnormal upper limb bone morphology", + "thoracic cavity element atresia", "skin of body", - "reproductive system", - "sacral region", - "Aplasia/Hypoplasia of the sacrum", - "Global developmental delay", - "biological regulation", - "abdominal segment of trunk", - "bony pelvis", - "bone element hypoplasia in independent continuant", - "abnormal penis morphology", - "hindlimb", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", - "abnormal cellular metabolic process", - "Hypoplastic sacrum", - "aplasia or hypoplasia of fused sacrum", - "Delayed CNS myelination", - "fused sacrum", - "Neoplasm", - "Tracheoesophageal fistula", - "Abnormal jaw morphology", - "abnormal ear", - "Low-set ears", - "abnormal esophagus morphology", - "penis", + "absent endochondral bone", + "bone of pectoral complex phenotype", + "absent radius bone in the forelimb", + "Disinhibition", + "Abnormal forearm bone morphology", + "absent long bone", + "absent bone of pectoral complex in the forelimb", "digestive system element", - "kidney", - "abnormal biological_process", + "Orofacial cleft", + "absent arm bone", + "reproductive organ", + "multi-limb segment region phenotype", + "olfactory organ phenotype", + "absent bone element in the limb", + "absent material anatomical entity in the ear", + "Aplasia/hypoplasia involving forearm bones", + "long bone phenotype", + "integument phenotype", + "vision/eye phenotype", + "secondary palate morphology phenotype", + "absent forelimb zeugopod bone", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", "Growth delay", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", - "organ part", - "regulation of gene expression", - "pectoral appendage", - "respiratory system", - "obsolete cell", - "programmed DNA elimination", - "digestive system", - "subdivision of tube", - "abnormal alimentary part of gastrointestinal system", - "oral cavity", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal respiratory system physiology", - "abnormal female reproductive organ morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "tracheobronchial tree", - "trunk region element", - "Aplasia/Hypoplasia of the external ear", - "endoderm-derived structure", - "pelvic appendage", - "respiratory tube", - "abnormal nose tip morphology", - "alimentary part of gastrointestinal system atresia", - "respiratory tract", - "forelimb endochondral element", - "primary metabolic process", - "Abnormality of the skin", - "abnormal bone marrow morphology", - "flat anatomical entity", - "lower respiratory tract", - "Abnormal esophagus morphology", - "abnormal tracheobronchial tree morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormality of respiratory system physiology", - "thoracic segment organ", - "digestive tract", - "Abnormal tracheal morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Abnormality of the respiratory system", - "central nervous system development", - "hemolymphoid system", - "esophagus", - "Abnormal location of ears", - "subdivision of digestive tract", - "delayed biological_process", - "Abnormality of the cervical spine", - "abnormal digestive system", - "tube", - "respiratory airway", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "abnormal nervous system morphology", + "radius bone", + "growth phenotype", + "embryo development phenotype", + "Abnormal tracheobronchial morphology", + "embryo development", + "decreased qualitatively developmental process", + "Intrauterine growth retardation", + "multicellular organism development phenotype", + "developmental process phenotype", + "anatomical structure development phenotype", + "decreased embryo development", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", + "size of eyeball of camera-type eye phenotype", + "Abnormal gastrointestinal tract morphology", + "Aplasia/Hypoplasia affecting the eye", + "absent uterus in the female reproductive system", + "absent material anatomical entity in the head", + "absent lateral structure", + "abdominal segment bone phenotype", + "increased size of the anatomical entity", + "absent lateral structure in the head", + "limb skeleton subdivision", + "absent anatomical entity in the ear", + "Anotia", + "aplasia or hypoplasia of manual digit 1", + "absent subdivision of head", + "male reproductive system", + "absent anatomical entity in the head", + "incomplete closing of the multi-tissue structure", + "female reproductive system morphology phenotype", + "internal female genitalia", + "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid", + "closing of the material anatomical entity", + "upper limb segment", + "biological_process phenotype", + "biological_process", + "bone marrow cell", + "absent limb endochondral element in the limb", + "absent anatomical structure in the female reproductive system", + "forelimb", + "Aplasia of the uterus", + "absent organ part in the female reproductive system", + "absent subdivision of tube", + "hematopoietic system phenotype", + "reproductive structure phenotype", + "female reproductive organ morphology phenotype", + "absent material anatomical entity in the female reproductive system", + "system development", + "absent reproductive structure", + "appendage phenotype", + "number of anatomical enitites of type subdivision of tube phenotype", + "blood cell", + "aplasia or hypoplasia of uterus", + "absent material anatomical entity in the reproductive system", + "limb bone", + "subdivision of oviduct", + "subdivision of tube atresia", + "absent limb long bone", + "internal female genitalia morphology phenotype", + "absent multicellular anatomical structure in the reproductive system", + "Abnormal myeloid cell morphology", + "absent bone of free limb or fin in the limb", + "segmental subdivision of nervous system", + "genitourinary system", + "absent reproductive structure in the reproductive system", + "reproductive structure", + "female organism", + "absent anatomical entity in the female reproductive system", + "multicellular organismal process", + "absent reproductive structure in the female reproductive system", + "Abnormal morphology of female internal genitalia", + "location of external ear phenotype", + "decreased qualitatively behavior", + "absent multicellular anatomical structure in the female reproductive system", + "Neurodevelopmental abnormality", + "Neurodevelopmental delay", + "closing of the organ", + "closing of the trunk region element", + "closing of the anatomical system", + "closing of the anatomical entity", + "mandible morphology phenotype", + "esophagus atresia", + "organ part atresia", + "anatomical structure atresia", + "anatomical entity atresia", + "process", + "gliogenesis", + "Gastrointestinal atresia", + "subdivision of digestive tract atresia", + "Esophageal atresia", + "anatomical system atresia", + "thoracic cavity element phenotype", + "jaw skeleton morphology phenotype", + "multicellular anatomical structure atresia", + "material anatomical entity atresia", + "digestive system physiology phenotype", + "anatomical point phenotype", + "Feeding difficulties", + "Microtia", + "regional part of brain phenotype", + "Eumetazoa", + "increased number of anatomical entity in the cerebrospinal fluid", + "cerebellum hypoplasia", + "brain ventricle", + "regional part of nervous system phenotype", + "Abnormal nervous system morphology", + "cerebellum", + "external genitalia", + "regional part of brain", + "midface morphology phenotype", + "incomplete closing of the ectoderm-derived structure", + "eyeball of camera-type eye phenotype", + "increased size of the anatomical structure", + "increased number of multicellular anatomical structure in the cerebrospinal fluid", + "midface", + "head bone", + "nasal bridge phenotype", + "bone cell", + "nose morphology phenotype", + "vestibulo-auditory system", + "bone element phenotype", + "male reproductive system phenotype", + "olfactory organ", + "increased width of anatomical entity", + "nose", + "Abnormality of the palpebral fissures", + "decreased developmental process", + "snout", + "decreased qualitatively embryo development", + "increased width of ectoderm-derived structure", + "anatomical collection", + "Macule", + "regulation of macromolecule metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "digestive system element atresia", + "increased width of nasal bridge", + "increased width of anatomical structure", + "nose phenotype", + "Abnormal cerebrospinal fluid morphology", + "negative regulation of biological process", + "incomplete closing of the neural crest-derived structure", + "oral cavity morphology phenotype", + "Craniofacial cleft", + "roof of mouth morphology phenotype", + "anatomical cavity", + "Abnormal oral cavity morphology", + "incomplete closing of the anatomical structure", "Hydrocephalus", + "incomplete closing of the multicellular anatomical structure", + "penis phenotype", + "absent external ear in the head", + "Abnormal male external genitalia morphology", + "brain ventricle/choroid plexus morphology phenotype", + "external male genitalia", + "respiratory system morphology phenotype", + "intromittent organ", + "Abnormal foot morphology", + "External genital hypoplasia", "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", - "cerebrospinal fluid", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "bone of craniocervical region", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Positional foot deformity", - "Abnormality of the urinary system", - "abnormal anus morphology", - "organ component layer", - "Morphological central nervous system abnormality", - "Abnormal cell morphology", - "lower limb segment", - "abnormal brain morphology", - "aplasia or hypoplasia of cerebellum", - "abnormally increased number of anatomical entity in the independent continuant", - "organism substance", - "abnormally increased number of anatomical entity", - "external ear hypoplasia", - "abnormal brain ventricle/choroid plexus morphology", - "flat anatomical entity in independent continuant", - "mouth", - "abnormal mandible morphology", - "anatomical point", - "ventricle of nervous system", - "Abnormality of limb bone", - "central nervous system", - "ventricular system of central nervous system", - "abnormal central nervous system morphology", - "transudate", - "Cafe-au-lait spot", - "increased length of the anatomical entity", - "myelination", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "abnormal location of ear", - "abnormal ocular adnexa", - "abnormal anatomical entity topology in independent continuant", - "Decreased external ear position", + "social behavior", + "forelimb zeugopod skeleton", + "male reproductive organ phenotype", + "external male genitalia phenotype", + "Cerebellar hypoplasia", + "Hypoplasia of penis", + "Abnormal external genitalia", + "multicellular anatomical structure", + "hematopoietic system", + "anus atresia", + "bone marrow", + "mouth phenotype", + "digit phenotype", + "immune system phenotype", + "Bone marrow hypocellularity", + "Abnormal external nose morphology", + "flat nose tip", + "curvature anatomical entity", "external nose", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal external ear", - "increased biological_process", - "increased size of the anatomical entity in independent continuant", + "nose tip morphology phenotype", + "oligodendrocyte differentiation", + "Abnormal nasal tip morphology", + "anatomical entity physiology phenotype", + "erythrocyte", + "external nose morphology phenotype", + "manual digit phenotype", + "oxygen accumulating cell", + "limb segment phenotype", + "erythroid lineage cell morphology phenotype", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "hematopoietic cell", "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", "integumental system", - "integument", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "abnormal hindlimb morphology", - "abnormal integument", - "brain ventricle", - "eyeball of camera-type eye", - "abnormal anus", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "Abnormal CNS myelination", - "immaterial anatomical entity", - "penis hypoplasia", - "limb endochondral element", - "Anal atresia", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "Abnormality of the face", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "roof of mouth", - "Abnormality of the orbital region", - "visual system", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormal ocular adnexa morphology", - "Abnormal eyelid morphology", - "absent uterus", + "musculature", + "Localized skin lesion", + "pigmentation", "ectoderm-derived structure", - "Slanting of the palpebral fissure", - "reproductive organ", - "abnormal skull morphology", - "anus atresia", - "abnormal palpebral fissure", - "abnormal face morphology", - "ocular adnexa", - "camera-type eye", - "delayed growth", - "abnormal eyeball of camera-type eye", - "increased anatomical entity length in independent continuant", - "abnormal location of eyeball of camera-type eye", - "anatomical line", - "Talipes equinovarus", - "absent kidney in the renal system", - "Hypermelanotic macule", - "Abnormal foot morphology", - "Aplasia/hypoplasia of the uterus", - "Hyperpigmentation of the skin", - "Bilateral talipes equinovarus", - "aplasia or hypoplasia of mandible", - "blood cell", - "Abnormality of the genitourinary system", - "head bone", - "Aplasia/Hypoplasia involving bones of the skull", - "cell", - "Abnormality of the mouth", - "anus", - "Abnormal skull morphology", - "pectoral complex", - "dermatocranium", - "abnormal jaw skeleton morphology", - "facial bone hypoplasia", - "segmental subdivision of hindbrain", - "digit 1 or 5", - "bone of jaw", + "skin of body phenotype", ], }, { "id": "MONDO:0010953", "category": "biolink:Disease", "name": "Fanconi anemia complementation group E", - "xref": ["DOID:0111084", "GARD:15324", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], - "provided_by": "phenio_nodes", "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", + "provided_by": "phenio_nodes", + "xref": [ + "DOID:0111084", + "GARD:15324", + "MEDGEN:463628", + "NCIT:C125709", + "OMIM:600901", + "UMLS:C3160739", + ], "synonym": [ "FANCE", "FANCE Fanconi anaemia", @@ -3607,13 +4506,11 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", "HP:0001875", "HP:0009777", "HP:0001249", + "HP:0000086", "HP:0000252", - "HP:0001627", - "HP:0000957", "HP:0000815", "HP:0000104", "HP:0001017", @@ -3629,7 +4526,9 @@ def autocomplete_response(): "HP:0003221", "HP:0009943", "HP:0000978", + "HP:0001627", "HP:0000953", + "HP:0000957", "HP:0001903", "HP:0001909", "HP:0000081", @@ -3641,13 +4540,11 @@ def autocomplete_response(): "HP:0000085", ], "has_phenotype_label": [ - "Ectopic kidney", "Neutropenia", "Absent thumb", "Intellectual disability", + "Ectopic kidney", "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", "Hypergonadotropic hypogonadism", "Renal agenesis", "Anemic pallor", @@ -3663,7 +4560,9 @@ def autocomplete_response(): "Chromosomal breakage induced by crosslinking agents", "Complete duplication of thumb phalanx", "Bruising susceptibility", + "Abnormal heart morphology", "Hyperpigmentation of the skin", + "Cafe-au-lait spot", "Anemia", "Leukemia", "Duplicated collecting system", @@ -3676,105 +4575,141 @@ def autocomplete_response(): ], "has_phenotype_count": 32, "has_phenotype_closure": [ - "HP:0000085", - "UPHENO:0041465", - "UPHENO:0082444", "UPHENO:0041226", - "UPHENO:0082129", + "UPHENO:0041465", "UPHENO:0041629", - "GO:0051716", - "GO:0006950", - "HP:0003213", "UPHENO:0051124", - "HP:0003254", + "GO:0046483", + "UPHENO:0050116", + "UPHENO:0049586", "UPHENO:0049964", - "GO:0007049", + "GO:0044238", + "GO:0006950", + "GO:0051716", + "HP:0003213", + "UPHENO:0050121", "GO:0051319", - "UPHENO:0050625", - "HP:0000364", + "GO:0007049", + "HP:0003214", + "UPHENO:0052160", + "UPHENO:0050620", "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", + "GO:0009987", + "HP:0000365", + "UPHENO:0005596", "UBERON:0002105", "UPHENO:0041075", "GO:0007600", - "GO:0007610", - "HP:0000708", + "UPHENO:0052159", + "UPHENO:0052970", + "UPHENO:0050625", + "UPHENO:0049699", + "UPHENO:0049703", + "GO:0006807", + "HP:0031704", + "UPHENO:0049989", + "UPHENO:0005512", + "GO:0050954", + "UPHENO:0005518", + "UPHENO:0050106", "HP:0000549", - "HP:0000486", - "UPHENO:0049622", + "HP:0000708", "NBO:0000444", - "HP:0000496", - "UBERON:0010222", - "UPHENO:0080585", - "UBERON:0006800", - "BFO:0000141", + "UPHENO:0002219", + "NBO:0000338", "UPHENO:0079828", + "GO:0007610", + "UPHENO:0002211", + "HP:0000496", "HP:0011018", "UBERON:0000015", - "GO:0050896", - "UPHENO:0049586", - "NBO:0000338", - "UBERON:0000466", - "UPHENO:0081424", - "UPHENO:0080351", + "UBERON:0010222", + "BFO:0000141", + "HP:0000486", "UPHENO:0000543", - "UPHENO:0081423", + "HP:0001510", + "HP:0004322", + "UPHENO:0080351", "UPHENO:0075159", - "HP:0000081", "UPHENO:0075787", - "HP:0002664", - "HP:0011793", + "UPHENO:3000003", "HP:0001909", - "HP:0004377", + "HP:0002664", + "UPHENO:0054970", + "GO:0043473", + "UPHENO:0050234", + "UPHENO:0080662", + "UPHENO:0054957", + "UBERON:0000948", + "HP:0001627", + "HP:0030680", + "UPHENO:0050019", + "UBERON:0005181", + "UBERON:0005178", "HP:0002597", - "HP:0001892", - "HP:0011029", - "UPHENO:0002678", - "UBERON:0000477", - "HP:0000978", - "UPHENO:0051097", "HP:0001933", + "GO:0071704", + "MPATH:105", + "UPHENO:0002678", "UBERON:0007798", - "GO:0003013", - "GO:0008015", - "HP:0009943", + "MPATH:603", + "MPATH:119", + "GO:0006139", + "HP:0011354", + "UBERON:0000477", + "HP:0001626", + "UBERON:0001009", + "MPATH:0", + "HP:0001892", + "MPATH:1000", + "UBERON:0015063", + "UBERON:5106048", + "UBERON:5102389", + "UBERON:0010688", + "UBERON:0011818", "HP:0011314", - "HP:0009602", - "UPHENO:0087369", + "UBERON:0015023", + "UBERON:0015024", + "UBERON:5101463", + "GO:0090304", + "UBERON:0012150", "HP:0009942", + "HP:0009943", "UBERON:0003221", "UBERON:0012357", - "UBERON:0015023", - "UBERON:0015024", - "UBERON:5101463", - "UPHENO:0021800", - "UPHENO:0084447", - "GO:0022403", - "UBERON:0004249", - "UBERON:5106048", - "UBERON:5102389", - "UBERON:0010688", "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0080581", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0000541", - "UBERON:0001436", - "GO:0010468", + "UPHENO:0049757", + "UPHENO:0049775", + "UPHENO:0050784", + "HP:0009602", + "UPHENO:0050126", + "HP:0001939", "NBO:0000313", "GO:0010558", "GO:0031327", - "GO:0006325", - "UPHENO:0049700", + "UBERON:0000915", + "UPHENO:0050065", + "UPHENO:0049904", + "GO:0050794", + "GO:0019222", + "GO:0008152", + "GO:0051325", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UPHENO:0050025", + "UPHENO:0049622", + "UPHENO:0050435", + "UBERON:0000466", + "UPHENO:0049868", + "GO:0042592", + "UPHENO:0049743", + "UPHENO:0050063", + "UBERON:0002075", + "GO:0031049", + "GO:0031052", "GO:0010556", "GO:0031326", "GO:0009890", @@ -3782,1482 +4717,1767 @@ def autocomplete_response(): "UBERON:0005897", "GO:0010605", "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0008152", - "HP:0000365", - "GO:0009987", "GO:0050789", - "GO:0044238", - "HP:0031704", - "GO:0006807", - "GO:0071704", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", - "HP:0001939", - "UPHENO:0050845", + "HP:0003221", + "GO:0010629", + "UPHENO:0050040", + "UPHENO:0050778", "HP:0001263", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", "UPHENO:0082794", + "UPHENO:0010799", "GO:0040007", - "UPHENO:0049874", - "UPHENO:0010763", + "UPHENO:0010850", + "UPHENO:0054374", "UBERON:0010543", "HP:0001507", - "UPHENO:0054299", - "UBERON:0000047", - "HP:0000568", - "UPHENO:0075219", + "UPHENO:0054304", + "UPHENO:0010808", + "GO:0006974", + "HP:0004323", + "UPHENO:0049874", + "UBERON:0010230", + "UPHENO:0049642", + "UBERON:0001456", "UBERON:0004088", "UBERON:0004456", + "UBERON:0000019", + "HP:0000568", + "HP:0000315", "UPHENO:0069523", - "UPHENO:0080209", - "GO:0033554", - "UBERON:0000970", - "UBERON:0001456", + "HP:0008056", + "HP:0011793", + "UPHENO:0002928", "UPHENO:0087924", - "HP:0100887", "HP:0000478", + "UPHENO:0002866", + "HP:0100887", "UPHENO:0002910", - "UPHENO:0020041", - "HP:0000271", - "HP:0011025", - "HP:0000315", - "UPHENO:0087472", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", - "UBERON:0000020", - "HP:0004312", + "GO:0033554", + "UBERON:0000970", + "HP:0000978", + "UPHENO:3000007", + "UPHENO:0069161", + "UPHENO:0075219", "HP:0001896", + "UPHENO:0052178", + "UPHENO:0005517", + "UPHENO:0085263", "UPHENO:0086002", + "UPHENO:0088148", + "HP:0001877", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "HP:0004312", "UPHENO:0049588", "CL:0000558", + "UPHENO:0046411", + "UPHENO:0046445", + "UPHENO:0069236", + "UPHENO:0012312", + "UPHENO:0069327", + "GO:0006259", + "UPHENO:0046426", + "GO:0050896", + "UPHENO:0046483", + "HP:0009778", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010468", + "UPHENO:0012440", + "UPHENO:0074575", + "UPHENO:0046707", + "UPHENO:0069605", + "UPHENO:0002403", + "HP:0009381", + "UPHENO:0069674", + "UPHENO:0069266", + "UPHENO:0069684", "UPHENO:0046505", + "UPHENO:0046552", + "UPHENO:0046528", + "HP:0003974", + "UPHENO:0025547", + "UPHENO:0025883", + "UPHENO:0026096", + "GO:0022403", + "UBERON:0004249", + "UPHENO:0025546", + "UPHENO:0076754", + "UPHENO:0026095", + "UPHENO:0025808", + "HP:0006501", + "UPHENO:0008430", + "UPHENO:0026806", + "UPHENO:0008604", + "UBERON:0015021", + "UPHENO:0025652", + "HP:0003220", + "UPHENO:0026811", + "UPHENO:0002967", + "UPHENO:0009337", + "UPHENO:0008475", + "UPHENO:0075944", "UPHENO:0088186", - "HP:0009381", - "UPHENO:0002433", - "CL:0000233", - "UPHENO:0026506", - "UBERON:0015061", + "UPHENO:0025852", + "HP:0001034", + "UPHENO:0011568", + "UPHENO:0076810", + "UPHENO:0004507", + "UPHENO:0025961", + "UPHENO:0009391", + "GO:0065007", + "UPHENO:0025855", + "UPHENO:0009344", + "UPHENO:0076718", + "UPHENO:0025136", + "UPHENO:0025882", + "UPHENO:0025811", + "UPHENO:0009115", + "UBERON:0002386", + "UBERON:0003607", + "HP:0001249", + "UPHENO:0002568", "UBERON:0003129", - "UBERON:0010708", - "UBERON:0012139", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", + "UPHENO:0049587", + "BFO:0000015", + "HP:0000815", + "UPHENO:0002586", + "HP:0011446", + "UPHENO:0003093", + "UPHENO:0002944", + "UBERON:0002471", + "UPHENO:0002926", + "UPHENO:0003065", + "UPHENO:0004757", + "UPHENO:0011531", + "CL:0000232", "UPHENO:0080352", "UBERON:0000075", "HP:0009815", "CL:0000775", - "NBO:0000001", - "UBERON:0034925", - "UPHENO:0088176", - "UBERON:0019221", - "GO:0044848", - "UBERON:0001460", - "UBERON:0002513", - "UBERON:0011138", - "GO:0022414", - "NCBITaxon:2759", - "UBERON:0006717", - "UPHENO:0001003", - "UPHENO:0076810", - "CL:0000225", - "UBERON:0011582", - "GO:0006996", - "HP:0008678", - "UPHENO:0085263", - "UPHENO:0052178", - "UPHENO:0076727", - "HP:0005927", - "UBERON:0003101", - "UBERON:0002204", - "UPHENO:0080300", - "UPHENO:0009382", - "UBERON:0004708", - "UPHENO:0085068", - "UPHENO:0021474", - "UBERON:5001463", - "UPHENO:0084448", - "UBERON:0010363", - "HP:0002977", - "HP:0001167", - "HP:0040064", + "UPHENO:0049652", + "UPHENO:0012274", + "UPHENO:0066913", + "UPHENO:0053644", + "UPHENO:0026506", + "UPHENO:0002352", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0086700", + "UPHENO:0084763", "HP:0045060", + "HP:0009380", + "UPHENO:0002378", + "UPHENO:0011548", + "HP:0000085", + "UPHENO:0026108", + "UPHENO:0026640", "UPHENO:0086633", - "HP:0009777", + "GO:0048519", + "UBERON:0006058", + "HP:0000598", + "UPHENO:0002731", + "UPHENO:0026344", "UPHENO:0026183", - "UPHENO:0002905", - "UPHENO:0076723", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0086172", - "UPHENO:0081435", - "PATO:0000001", - "UBERON:0019231", - "UPHENO:0002844", - "BFO:0000015", - "UPHENO:0049587", - "UBERON:0000026", - "GO:0043933", - "UPHENO:0002896", - "UBERON:0000153", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "HP:0009778", "UPHENO:0080325", - "UPHENO:0002642", "UBERON:0015203", + "UPHENO:0002642", + "UBERON:0002428", + "UBERON:0007272", + "UPHENO:0004476", + "HP:0009822", + "UBERON:0003101", + "UPHENO:0003069", + "UPHENO:0002648", + "HP:0000078", + "UPHENO:0049671", + "HP:0009601", + "HP:0000002", + "HP:0000953", + "UPHENO:0076740", + "HP:0000271", + "UPHENO:0053571", + "UPHENO:0003799", + "UPHENO:0026643", + "UPHENO:0008548", + "UPHENO:0002896", + "UBERON:0000153", + "UPHENO:0084448", + "UBERON:0006800", + "UPHENO:0011931", + "UPHENO:0002659", + "UPHENO:0080114", + "UPHENO:0011825", + "UPHENO:0009146", + "UBERON:0012358", + "CL:0000000", + "UPHENO:0087006", + "UPHENO:0009021", + "UBERON:0001440", + "UPHENO:0069062", + "UBERON:0001015", + "UPHENO:0049873", + "UPHENO:0011572", + "UPHENO:0003088", + "HP:0002818", + "HP:0002813", + "UPHENO:0052231", + "HP:0000028", + "UBERON:0002091", + "UPHENO:0087518", + "OBI:0100026", + "UBERON:0003135", + "UBERON:0012140", + "UBERON:0005451", + "HP:0011297", + "UPHENO:0002632", + "UBERON:0015212", + "UPHENO:0008523", + "UPHENO:0003095", + "UBERON:0000383", + "HP:0000081", + "UPHENO:0053632", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0052165", + "HP:0011873", + "UBERON:0004375", + "UPHENO:0085356", + "UPHENO:0046741", + "CL:0000225", + "UBERON:0011582", + "HP:0008678", + "UPHENO:0050008", + "HP:0006496", + "UBERON:0001434", + "HP:0003254", + "UPHENO:0011817", + "UPHENO:0080300", + "UPHENO:0009382", + "UBERON:5001463", + "UPHENO:0002945", + "UPHENO:0046740", + "UPHENO:0025176", + "UBERON:0012141", + "UPHENO:0002976", "UPHENO:0049952", "HP:0040068", "UPHENO:0002708", - "UBERON:0012141", + "UBERON:0011250", + "UPHENO:0086176", + "UBERON:0010758", + "UPHENO:0025585", + "UPHENO:0005437", + "UPHENO:0004523", + "HP:0009115", + "HP:0001167", + "HP:0040064", + "UPHENO:0002526", + "UPHENO:0002430", + "UBERON:0002090", + "UBERON:0012139", "UPHENO:0082761", "CL:0000738", - "HP:0000027", - "UPHENO:0086700", - "UPHENO:0086019", - "HP:0012759", - "UBERON:0002097", - "UBERON:0003135", - "UBERON:0012140", - "UBERON:0005451", - "HP:0009822", - "UBERON:0002428", - "UPHENO:0054957", - "UBERON:0007272", - "GO:0050890", - "UBERON:0000073", - "GO:0034641", - "HP:0000929", - "HP:0010461", - "UPHENO:0053644", + "GO:0003008", + "UBERON:0010538", + "HP:0002977", + "UBERON:0004708", + "UPHENO:0009209", + "UPHENO:0002593", + "HP:0002817", + "UPHENO:0001001", + "CL:0002422", + "CL:0000763", + "HP:0000135", + "UBERON:0010000", + "UPHENO:0002576", + "BFO:0000003", + "PR:000050567", + "UBERON:5002389", "UBERON:8450002", - "UPHENO:0084763", - "HP:0010935", - "UPHENO:0088148", - "UPHENO:0049940", - "UBERON:0003103", - "UBERON:5006048", - "UBERON:0003133", + "BFO:0000040", + "UBERON:0012475", + "UPHENO:0002880", + "HP:0001518", + "HP:0100547", + "UPHENO:0085354", + "UPHENO:0066927", + "UPHENO:0002600", + "HP:0040072", + "UBERON:0010912", + "CL:0000094", + "UPHENO:0076739", + "UBERON:0008785", + "CL:0000255", + "UBERON:0000479", "UBERON:0005881", "UBERON:0001062", - "UPHENO:0088321", - "UPHENO:0049367", + "CL:0000081", + "UPHENO:0052161", + "UPHENO:0002554", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0008743", + "UPHENO:0076692", + "UBERON:0012151", + "HP:0011017", + "NCBITaxon:33208", + "HP:0009777", + "UBERON:0010708", "UPHENO:0075997", "UBERON:0002371", - "UPHENO:0049671", - "HP:0009601", - "HP:0012373", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0002803", - "UBERON:0005172", - "CL:0001035", - "BFO:0000040", - "UPHENO:0084766", - "UBERON:0015212", - "UPHENO:0059829", - "HP:0011991", - "UBERON:0011250", - "UPHENO:0086176", - "UBERON:0010758", - "UPHENO:0087846", - "UPHENO:0085195", - "UBERON:0010000", - "UBERON:0002390", - "BFO:0000004", + "HP:0001911", + "UBERON:0006048", "UBERON:5002544", "UPHENO:0087510", "GO:0006281", "BFO:0000002", - "HP:0012639", - "UPHENO:0085984", - "HP:0020047", - "GO:0007276", - "HP:0001874", - "UPHENO:0076692", + "UPHENO:0053559", "UPHENO:0002536", - "UBERON:0012151", - "HP:0011017", - "NCBITaxon:33208", + "UPHENO:0011536", + "HP:0040012", + "UBERON:0010707", + "UBERON:0002101", + "UPHENO:0002861", + "UBERON:0004120", + "UPHENO:0069064", + "HP:0001874", + "NCBITaxon:2759", + "HP:0007364", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0026813", + "UBERON:0003606", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0011584", + "UPHENO:0025509", + "UPHENO:0010795", + "UPHENO:0027014", + "HP:0009997", + "HP:0001875", + "UPHENO:0009163", + "UBERON:0010712", + "HP:0000080", + "HP:0025354", + "UPHENO:0085371", + "UPHENO:0011573", + "UPHENO:0087349", + "UBERON:0002389", + "UBERON:0000468", + "UPHENO:0068971", + "UPHENO:0008668", + "UBERON:0002193", + "UBERON:0001444", + "UPHENO:0002969", + "UPHENO:0018390", + "UPHENO:0080099", + "CL:0000219", + "UBERON:0000062", + "HP:0000364", + "UPHENO:0009356", + "HP:0007400", + "HP:0033127", + "UPHENO:0008865", + "UPHENO:0079876", + "HP:0020047", + "UPHENO:0076723", + "CL:0001035", + "HP:0002715", + "UPHENO:0002301", + "UPHENO:0026097", + "UPHENO:0002433", + "UPHENO:0002949", + "UPHENO:0026309", + "CL:0000233", + "CL:0000151", + "UPHENO:0002963", + "HP:0011991", + "UPHENO:0009399", + "HP:0025461", + "UPHENO:0053566", + "UPHENO:0076805", + "CL:0000766", + "UPHENO:0008703", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "HP:0001881", "HP:0009998", - "GO:0016043", - "UPHENO:0015280", "UPHENO:0075902", - "HP:0001881", - "UBERON:0002049", - "UBERON:0001016", - "HP:0011446", - "UBERON:0005173", - "UBERON:0005177", + "UPHENO:0002733", + "UPHENO:0085344", + "UPHENO:0076779", + "GO:1901360", + "UPHENO:0025211", + "HP:0000980", + "UBERON:0000061", + "UPHENO:0011749", + "UPHENO:0081451", + "UPHENO:0076724", "HP:0005922", "UBERON:0000467", - "UPHENO:0002903", - "CL:0002092", - "UPHENO:0081466", - "UPHENO:0002406", - "UBERON:0001444", - "UPHENO:0018390", - "UBERON:0002193", - "HP:0000077", - "UBERON:0002199", - "UBERON:0005178", - "UPHENO:0049701", - "UBERON:0001008", - "UBERON:0011249", - "UPHENO:0001002", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002371", - "UBERON:0008785", - "CL:0000255", + "UPHENO:0002360", + "UBERON:0011216", + "HP:0010974", + "UPHENO:0002870", + "UPHENO:0002525", + "UPHENO:0077348", "UBERON:0002470", - "UPHENO:0075696", - "HP:0011842", - "GO:0043170", - "HP:0011961", - "UPHENO:0077426", - "HP:0009997", - "HP:0001875", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002101", - "HP:0000152", - "GO:0048523", - "HP:0000079", - "UPHENO:0026128", - "UPHENO:0085330", - "UPHENO:0076703", - "HP:0003974", - "UBERON:0004120", - "UPHENO:0076779", - "UPHENO:0020950", - "UPHENO:0085344", - "UPHENO:0088335", - "GO:0032501", - "UBERON:0013701", - "UBERON:0002398", - "UBERON:0009569", - "CL:0000081", - "UPHENO:0002598", - "UPHENO:0002240", - "UBERON:0004765", - "UPHENO:0053588", - "UPHENO:0063722", - "HP:0002817", - "UPHENO:0001001", - "UPHENO:0087547", - "CL:0002422", - "CL:0000763", - "UBERON:0008962", - "HP:0012210", - "UBERON:0001463", - "HP:0001877", - "UBERON:0002389", - "UPHENO:0087349", - "UBERON:0000468", - "HP:0000001", + "UPHENO:0053612", + "CL:0002242", + "UPHENO:0026227", + "UPHENO:0081424", + "UPHENO:0003049", + "GO:0008150", + "UPHENO:0026146", + "UPHENO:0077399", + "UPHENO:0002530", + "HP:0012639", + "UPHENO:0003005", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0081566", "UPHENO:0074584", "UBERON:0001442", - "HP:0012638", - "UPHENO:0079876", + "HP:0000001", + "UBERON:0002390", + "UPHENO:0003082", + "UPHENO:0088176", + "NBO:0000001", + "UBERON:0034925", + "UPHENO:0053619", + "UPHENO:0009129", "UPHENO:0053580", - "UBERON:0011143", - "UBERON:0000062", - "UPHENO:0080099", - "CL:0000219", - "UPHENO:0085371", - "HP:0025354", - "UBERON:0000465", - "CL:0000988", + "UPHENO:0076727", + "UPHENO:0025507", + "UBERON:0034923", + "UBERON:0002544", + "UPHENO:0002948", + "UBERON:0000020", + "UPHENO:0003025", + "UPHENO:0025553", + "UPHENO:0005513", + "BFO:0000004", + "UPHENO:0012308", + "UPHENO:0001002", + "HP:0012733", + "UBERON:0003460", + "UBERON:0002204", "HP:0012372", "HP:0002060", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0012475", - "UPHENO:0002880", - "HP:0001518", - "HP:0100547", - "HP:0032309", - "UPHENO:0087427", - "CL:0002242", - "UPHENO:0085405", + "UPHENO:0009020", + "UPHENO:0076675", + "UBERON:0002100", + "UPHENO:0002832", + "UPHENO:0080010", + "HP:0032251", + "UPHENO:0002903", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0077391", + "UBERON:0015061", + "UPHENO:0026630", + "UBERON:0004053", + "UPHENO:0002637", + "UPHENO:0002523", + "UBERON:0019221", + "UPHENO:0085330", + "UPHENO:0076703", + "UBERON:0002529", + "UPHENO:0003056", "UPHENO:0078606", "HP:0006265", + "HP:0011842", "UPHENO:0087123", - 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"UPHENO:0086589", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "HP:0000032", - "UBERON:0000475", - "UPHENO:0076702", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0001890", - "UPHENO:0080200", - "UBERON:0002090", - "GO:0048232", - "UPHENO:0087907", - "HP:0006501", - "UBERON:5102544", - "UPHENO:0080377", - "UBERON:0011137", - "UBERON:0000489", - "UBERON:0010323", - "UBERON:0000033", - "HP:0000252", - "UPHENO:0075220", "UBERON:0015025", "HP:0012758", "HP:0002011", - "UPHENO:0046707", - "UPHENO:0074575", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "UBERON:0001032", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0002616", - "HP:0012443", - "HP:0001626", - "UBERON:0000948", - "BFO:0000001", - "UPHENO:0002635", - "UBERON:0000915", - "UBERON:0005181", - "UPHENO:0080362", - "NCBITaxon:6072", - "UPHENO:0076776", - "UBERON:0001009", - "HP:0030680", - "UPHENO:0005016", - "UBERON:0007100", - "UBERON:0003460", - "HP:0012733", - "UPHENO:0026023", - "HP:0001034", - "HP:0004275", - "UBERON:0010314", - "HP:0001873", - "UPHENO:0080221", - "HP:0001574", - "UBERON:0002416", - "UPHENO:0082682", - "UBERON:0000481", + "UPHENO:0049990", + "UPHENO:0003004", + "NCBITaxon:1", "HP:0000957", - "HP:0009823", - "UPHENO:0080662", - "UBERON:0002417", - "UPHENO:0074572", - "UBERON:0002102", - "UPHENO:0003811", - "HP:0033127", - "HP:0007400", - "UPHENO:0074589", - "RO:0002577", - "HP:0000951", - "UPHENO:0085076", - "GO:0043473", - "HP:0000002", - "UPHENO:0076740", - "HP:0000953", - "UBERON:0004710", - "UPHENO:0088162", - "GO:0050794", - "UPHENO:0085875", - "HP:0011121", - "HP:0001903", - "UPHENO:0004459", - "UPHENO:0003116", + "UBERON:0000481", + "UPHENO:0080200", + "UBERON:0001890", + "UBERON:0000489", + "UBERON:0010323", + "UPHENO:0080377", + "UBERON:5102544", + "UPHENO:0063794", + "UBERON:0011137", + "UPHENO:0008487", + "UPHENO:0002323", + "UPHENO:0087907", + "UBERON:0005156", + "UBERON:0001893", + "UPHENO:0066925", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002616", + "HP:0012443", + "UPHENO:0087472", + "UPHENO:0002553", + "UPHENO:0076776", + "NCBITaxon:6072", + "HP:0000924", + "UBERON:0004121", + "HP:0000252", + "UPHENO:0003001", + "UPHENO:0005433", + "UPHENO:0002746", + "UBERON:0002104", + "HP:0006503", + "NCBITaxon:33154", + "UPHENO:0026808", + "UBERON:0007811", + "UBERON:0001017", + "HP:0000234", + "UBERON:0000475", + "UPHENO:0002559", + "UPHENO:0076702", + "UBERON:0000033", + "UPHENO:0002548", + "UPHENO:0025845", + "UPHENO:0075195", + "HP:0009121", + "UPHENO:0075804", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0086589", + "UPHENO:0025187", + "UPHENO:0075220", + "UBERON:0000047", + "UPHENO:0002385", + "UPHENO:0066945", + "UPHENO:0080126", + "UBERON:0015204", + "HP:0008373", + "UPHENO:0066903", "UPHENO:0003055", - "HP:0001876", - "HP:0000118", - "UPHENO:0024906", - "HP:0000078", - "HP:0011028", - "UBERON:0010712", - "HP:0000080", "UPHENO:0066972", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0002381", + "UPHENO:0081511", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0011566", + "UPHENO:0011770", + "UPHENO:0025587", + "UPHENO:0002308", + "GO:0043170", + "UPHENO:0025544", + "UPHENO:0026074", + "UPHENO:0011559", + "UPHENO:0002685", + "UPHENO:0008640", + "UPHENO:0066905", + "MPATH:120", + "UPHENO:0049620", "UBERON:0000990", + "UPHENO:0011739", "UPHENO:0003020", + "UPHENO:0046750", "UBERON:0005944", "UBERON:0000991", - "HP:0008373", - "UPHENO:0080126", - "UBERON:0015204", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0002386", + "UBERON:0000465", + "UPHENO:0002206", + "UPHENO:0063787", "HP:0000818", - "UBERON:0005156", - "UPHENO:0082875", + "UPHENO:0008825", + "HP:0004325", + "UPHENO:0026504", + "UPHENO:0026600", + "UBERON:0011143", + "UPHENO:0026507", + "NCBITaxon:131567", + "HP:0001017", + "UPHENO:0081423", + "UPHENO:0009011", "HP:0011355", + "UPHENO:0011492", + "UPHENO:0082875", "HP:0000104", + "UBERON:0010363", + "UPHENO:0008816", + "UPHENO:0085302", "UPHENO:0008593", "UPHENO:0026980", - "GO:1901360", - "HP:0000980", - "UBERON:0000061", - "UPHENO:0025211", - "HP:0025461", - "UPHENO:0009399", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "UPHENO:0087089", - "CL:0000764", + "UPHENO:0025661", + "UPHENO:0009010", + "UPHENO:0025631", + "UPHENO:0008827", + "UBERON:0003133", + "UBERON:5006048", + "UPHENO:0026308", + "BFO:0000001", + "UPHENO:0002635", + "UBERON:0004710", + "UPHENO:0002782", + "UPHENO:0088162", + "UPHENO:0054315", + "UBERON:0002416", + "UBERON:0002102", + "UPHENO:0003811", + "UPHENO:0081581", + "RO:0002577", + "HP:0000951", "UBERON:0001474", "CL:0000329", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", - "UPHENO:0086045", - "HP:0011875", - "UPHENO:0085042", - "HP:0012145", - "UPHENO:0087355", - "CL:0000457", - "UPHENO:0087339", - "CL:0000458", + "CL:0000764", + "HP:0001574", + "HP:0011121", + "UPHENO:0025497", "UBERON:0001690", "UBERON:0015410", + "UPHENO:0002736", "UPHENO:0086173", - "CL:0000151", - "UPHENO:0081755", - "UBERON:0002471", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", + "HP:0012145", + "UPHENO:0053647", + "UPHENO:0066902", + "UPHENO:0026098", + "HP:0011875", + "CL:0000458", "UPHENO:0084761", "HP:0001872", - "UBERON:0011584", - "UPHENO:0084987", - "UPHENO:0052231", - "HP:0000028", - "HP:0001510", - "UPHENO:0086023", - "HP:0004742", - "UBERON:0003620", - "HP:0012130", - "CL:0000300", - "UPHENO:0005597", - "CL:0000586", - "HP:0001627", - "UPHENO:0049970", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "GO:0003006", - "HP:0001000", - "UPHENO:0080382", - "UPHENO:0085356", - "GO:0019953", - "GO:0000003", - "HP:0001249", - "UBERON:0001968", - "GO:0048609", - "HP:0003953", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0041821", - "HP:0009825", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0015228", - "CL:0000015", - "HP:0008669", - "HP:0000811", - "UPHENO:0086201", - "UPHENO:0053298", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", + "CL:0000457", + "HP:0004275", + "UBERON:0010314", + "UPHENO:0053633", + "HP:0001873", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0000473", "UPHENO:0076941", "UPHENO:0002764", "UPHENO:0002597", - "CL:0000413", - "CL:0000039", - "UBERON:0011216", - "UBERON:0004175", + "HP:0000811", + "UPHENO:0002682", + "HP:0000035", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", + "UPHENO:0002940", + "HP:0001871", + "UBERON:0000079", + "UPHENO:0053610", "UBERON:0004176", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0081511", - "UPHENO:0086635", - "HP:0000240", - "HP:0000812", - "UBERON:0015021", - "UBERON:0002386", - "UPHENO:0086198", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", + "HP:0005918", + "HP:0012243", + "HP:0000032", "UPHENO:0079826", "UBERON:0004122", "UPHENO:0002595", - "UBERON:0015063", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0078452", - "HP:0005918", - "HP:0012243", - "UBERON:0013702", - "UPHENO:0080187", - "UBERON:0000955", - "UBERON:0010703", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0010912", - "CL:0000094", - "HP:0040072", - "UPHENO:0079872", - "UPHENO:0009341", + "HP:0009823", + "UPHENO:0010763", + "UPHENO:0025955", + "UPHENO:0025545", + "HP:0005927", + "UPHENO:0026486", + "UPHENO:0002738", + "UPHENO:0006894", "UBERON:0001423", + "UPHENO:0009295", + "HP:0003953", + "UPHENO:0026023", + "UPHENO:0011563", + "UPHENO:0002750", + "UPHENO:0026317", "UPHENO:0086956", - "HP:0040070", - "UBERON:0002405", - "UPHENO:0021561", - "UBERON:0003606", - "UPHENO:0005651", - "UPHENO:0076718", - "UBERON:0002104", - "HP:0006503", - "HP:0009142", + "UPHENO:0009341", + "UPHENO:0079872", "UBERON:0004535", - "UPHENO:0002751", + "HP:0009142", "UBERON:0002495", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "UBERON:0010741", + "UPHENO:0002751", + "UBERON:0013702", + "UPHENO:0080187", "UPHENO:0069254", "UBERON:0000949", "UBERON:0003466", - "UPHENO:0012541", - "HP:0004325", - "UPHENO:0031839", - "UPHENO:0046411", - "UBERON:0004381", - "UPHENO:0011498", - "UPHENO:0046624", - "UPHENO:0008668", - "UPHENO:0068971", + "HP:0040070", + "GO:0006725", + "UPHENO:0087501", + "HP:0004377", + "UPHENO:0008709", + "UPHENO:0002594", + "UPHENO:0086019", + "UPHENO:0026312", ], "has_phenotype_closure_label": [ - "Horseshoe kidney", - "shape anatomical entity", "3-D shape anatomical entity", - "U-shaped anatomical entity", - "abnormal response to stress", - "DNA repair", + "shape anatomical entity", + "Horseshoe kidney", "response to stress", - "abnormal cellular response to stress", - "abnormal DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Abnormality of the cell cycle", - "G2 phase", + "Abnormality of DNA repair", + "response to stimulus", + "DNA repair", + "DNA damage response phenotype", + "nucleobase-containing compound metabolic process phenotype", + "organic cyclic compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "metabolic process phenotype", + "macromolecule metabolic process phenotype", "cell cycle phase", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", + "Abnormality of the cell cycle", + "interphase", "ear", - "abnormal ear", + "sensory perception", + "decreased sensory perception", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "anatomical line", - "body part movement", + "decreased qualitatively system process", + "decreased qualitatively sensory perception of sound", + "sensory perception phenotype", + "ear physiology phenotype", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "decreased system process", + "Hearing impairment", + "sense organ physiology phenotype", + "nucleic acid metabolic process phenotype", + "lateral structure physiology phenotype", "immaterial anatomical entity", + "eye movement", + "Strabismus", + "body part movement", + "multicellular organismal process phenotype", + "anatomical line", "behavior", + "decreased qualitatively sensory perception of mechanical stimulus", + "eye physiology phenotype", "concave 3-D shape anatomical entity", "Abnormality of eye movement", - "response to stimulus", - "eye movement", - "abnormal eye movement", - "Strabismus", - "behavior process", - "abnormal response to stimulus", - "Abnormality of body height", + "Atypical behavior", + "camera-type eye physiology phenotype", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "multicellular organism height phenotype", "Short stature", + "size of multicellular organism phenotype", "delayed biological_process", - "abnormal DNA damage response", - "delayed growth", - "abnormal size of multicellular organism", + "Abnormality of body height", + "Abnormal renal collecting system morphology", + "macromolecule metabolic process", + "Duplicated collecting system", "Neoplasm", - "Hematological neoplasm", - "vasculature", + "Leukemia", + "neoplasm phenotype", + "Localized skin lesion", + "Cafe-au-lait spot", + "Macule", + "biological_process rate phenotype", + "increased qualitatively biological_process", + "Hyperpigmentation of the skin", + "Abnormal heart morphology", + "Abnormal cardiovascular system morphology", + "heart morphology phenotype", + "circulatory organ", + "heart plus pericardium", + "thoracic cavity element", + "vascular system", "Abnormality of the vasculature", - "blood circulation", - "Bruising susceptibility", - "Subcutaneous hemorrhage", - "abnormality of cardiovascular system physiology", + "Abnormality of the cardiovascular system", + "anatomical cluster phenotype", "Generalized abnormality of skin", - "Internal hemorrhage", - "Abnormality of blood circulation", "Vascular skin abnormality", - "vascular system", - "Abnormal bleeding", - "abnormal anatomical entity morphology in the skeleton of manus", + "vasculature", + "pigmentation", + "Abnormal finger phalanx morphology", + "Duplication of thumb phalanx", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", "manual digit bone", - "Duplication of bones involving the upper extremities", + "eye movement phenotype", + "manual digit digitopodial skeleton", "phalanx endochondral element", - "manual digit phalanx endochondral element", - "Duplication of phalanx of hand", - "abnormal phalanx morphology", - "acropodial skeleton", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", "phalanx", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "digitopodium bone", "skeleton of manual acropodium", - "manual digitopodium bone", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", + "digitopodium bone", + "regulation of macromolecule metabolic process", "regulation of biosynthetic process", + "pigmentation phenotype", "individual digit of digitopodial skeleton", "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "Abnormality of DNA repair", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "decreased height of the anatomical entity", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "Duplicated collecting system", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "metabolic process", + "regulation of cellular biosynthetic process", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", + "negative regulation of gene expression", "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "negative regulation of cellular process phenotype", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "regulation of cellular biosynthetic process phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Neurodevelopmental delay", + "multicellular organism mass phenotype", + "material anatomical entity mass phenotype", + "decreased anatomical structure mass", + "decreased material anatomical entity mass", "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormal growth", - "decreased anatomical entity mass", - "abnormal cell cycle", - "Duplication of thumb phalanx", - "abnormality of anatomical entity mass", - "sensory system", - "decreased size of the eyeball of camera-type eye", - "simple eye", - "eyeball of camera-type eye", "camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "abnormal camera-type eye morphology", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "entire sense organ system", + "Abnormality of the orbital region", + "camera-type eye morphology phenotype", "Abnormality of the eye", - "abnormal face", + "face phenotype", "orbital region", - "abnormal eyeball of camera-type eye", - "abnormal size of eyeball of camera-type eye", - "visual system", - "Abnormality of the orbital region", - "Abnormality of the face", "sense organ", "Microphthalmia", - "abnormal enucleated reticulocyte morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Non-obstructive azoospermia", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "system process", - "Duplication of hand bones", - "abnormal nitrogen compound metabolic process", - "nervous system process", - "axial skeleton plus cranial skeleton", - "Abnormal appendicular skeleton morphology", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "acropodium region", - "Intellectual disability", - "bone marrow", - "multicellular organismal process", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "size of eyeball of camera-type eye phenotype", + "simple eye", + "sensory system", + "face morphology phenotype", + "Abnormal eye morphology", + "orbital region phenotype", + "number of anatomical enitites of type reticulocyte phenotype", + "decreased number of reticulocyte", + "enucleated reticulocyte", + "reticulocyte", + "enucleated reticulocyte morphology phenotype", + "decreased length of digit 1", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased length of autopodial extension", + "decreased size of the material anatomical entity", + "Short thumb", + "decreased length of multicellular anatomical structure", + "decreased length of manual digit", + "decreased length of anatomical structure", + "decreased length of material anatomical entity", + "decreased size of the organism subdivision", + "decreased size of the anatomical entity", + "decreased length of organism subdivision", + "negative regulation of metabolic process phenotype", + "Short finger", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of radius bone", + "forelimb zeugopod bone phenotype", + "decreased multicellular anatomical structure mass", + "Absent radius", + "absent forelimb zeugopod bone", + "U-shaped anatomical entity", + "long bone phenotype", "Aplasia/hypoplasia involving forearm bones", - "segment of manus", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal immune system morphology", - "genitourinary system", - "decreased qualitatively reproductive process", - "Abnormal skeletal morphology", + "absent bone element in the limb", + "forelimb zeugopod morphology phenotype", + "absent bone of pectoral complex in the forelimb", + "absent long bone", + "bone of pectoral complex morphology phenotype", + "absent forelimb endochondral element in the limb", + "Abnormal forearm bone morphology", + "absent radius bone in the forelimb", + "bone of pectoral complex phenotype", + "limb long bone morphology phenotype", + "absent endochondral bone in the forelimb", + "absent limb endochondral element in the limb", + "delayed growth", + "arm bone phenotype", + "simple eye physiology phenotype", + "absent organ in the forelimb", + "cellular process", + "long bone morphology phenotype", + "absent endochondral element", + "absent organ in the limb", + "Aplasia/Hypoplasia of the radius", + "vestibulo-auditory system", + "absent limb endochondral element", + "absent limb bone", + "forelimb bone phenotype", + "absent bone of free limb or fin in the limb", + "Absent forearm bone", + "decreased size of the organ", + "absent forelimb bone", + "absent bone element", + "Abnormal morphology of the radius", + "Reticulocytopenia", + "absent forelimb bone in the limb", + "absent endochondral element in the forelimb", + "number of anatomical enitites of type bone element phenotype", + "forelimb long bone phenotype", + "nervous system process phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "increased biological_process", + "absent bone of free limb or fin", + "radius bone phenotype", + "absent bone of free limb or fin in the forelimb", + "regulation of biosynthetic process phenotype", + "zeugopod", + "decreased length of anatomical entity", + "bone of pectoral complex", + "nervous system physiology phenotype", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "pathological phenotype observation", "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "paired limb/fin skeleton", - "arm", - "endochondral bone", + "decreased functionality of the gonad", + "decreased sensory perception of sound", + "anatomical system physiology phenotype", + "subdivision of head", + "absent mesoderm-derived structure in the forelimb", + "appendage girdle complex", + "digit phenotype", + "Renal hypoplasia/aplasia", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Hypermelanotic macule", + "absent kidney in the renal system", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "kinesthetic behavior", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "Duplication of hand bones", + "nervous system process", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "decreased size of the anatomical structure", + "organ", + "occurrent", "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "Abnormal finger phalanx morphology", - "pigmentation", - "bone of appendage girdle complex", - "abnormal limb morphology", - "system", - "aplasia or hypoplasia of manual digit 1", + "endochondral bone", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", "entity", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal autopod region morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "forelimb zeugopod bone morphology phenotype", + "behavior process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "acropodial skeleton", + "autopod region morphology phenotype", + "appendage", + "anatomical entity phenotype", + "decreased multicellular organismal process", + "root", + "localised testis", "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "limb", + "bone of free limb or fin", + "cavitated compound organ phenotype", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "cardiovascular system", + "absent skeletal element", + "manual digit morphology in the manus phenotype", + "localised cavitated compound organ", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "number of anatomical enitites of type endochondral bone phenotype", + "upper limb segment phenotype", + "endochondral element phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "protein-containing material entity", + "segment of manus", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "multi-limb segment region", + "manual digit plus metapodial segment", + "digit 1 plus metapodial segment", + "anatomical entity length phenotype", + "digit", + "digit 1 or 5 phenotype", + "Abnormal digit morphology", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", "Neoplasm by anatomical site", "Decreased anatomical entity mass", "Abnormality of the upper limb", + "limb", "cell", "absent anatomical entity in the renal system", - "skeleton", - "male gamete generation", - "absent anatomical entity", - "Abnormal digit morphology", - "appendicular skeletal system", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", - "agenesis of anatomical entity", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "absent skeletal element in the forelimb", + "absent bone of appendage girdle complex in the forelimb", + "pectoral appendage", + "absent organism subdivision", + "Neurodevelopmental abnormality", + "manus phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "axial skeleton plus cranial skeleton", + "Abnormal hand morphology", + "Metazoa", + "absent mesoderm-derived structure", + "Aplasia/hypoplasia involving bones of the extremities", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "digitopodium region", + "skeleton of manus", + "skeleton of limb", + "Aplasia involving forearm bones", + "autopodial extension phenotype", + "regulation of macromolecule metabolic process phenotype", "anatomical collection", + "G2 phase", + "nervous system phenotype", "All", - "increased qualitatively biological_process", "Aplasia involving bones of the extremities", - "abnormal digit morphology", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "paired limb/fin segment phenotype", + "absent anatomical structure in the forelimb", + "acropodium region", + "Intellectual disability", + "bone marrow", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "erythrocyte morphology phenotype", + "paired limb/fin segment", + "Opisthokonta", + "Duplication of bones involving the upper extremities", + "localised abdominal segment element", + "genitourinary system", + "decreased size of the digit", + "paired limb/fin", + "skeleton phenotype", + "absent forelimb endochondral element", + "limb phenotype", + "paired limb/fin skeleton", + "arm phenotype", + "hematopoietic system", + "agenesis of anatomical entity", + "nucleobase-containing compound metabolic process", + "manus morphology phenotype", + "increased pigmentation", + "material anatomical entity phenotype", + "absent kidney", + "digit 1 phenotype", + "bone of appendage girdle complex", + "arm", + "multicellular anatomical structure mass phenotype", + "male reproductive organ phenotype", + "manual digit", + "limb bone morphology phenotype", + "Abnormal skeletal morphology", + "anatomical system", + "absent anatomical structure in the limb", + "Abnormality of thumb phalanx", + "decreased number of leukocyte", + "decreased size of the sense organ", + "anatomical collection phenotype", + "quality", + "decreased number of platelet", + "Aplasia/hypoplasia of the extremities", + "decreased number of anatomical entity", + "Abnormal cellular phenotype", + "abdominal segment element", + "decreased number of neutrophil", + "renal collecting system phenotype", + "musculature", + "regional part of brain", "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of manus", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", "thoracic segment of trunk", - "skeletal system", - "motile cell", - "aplastic anatomical entity", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "abnormally decreased number of myeloid cell", + "number of anatomical enitites of type material anatomical entity phenotype", + "skeletal element", + "taxon specific phenotype", + "granulocyte morphology phenotype", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "cell phenotype", + "obsolete cell", + "programmed DNA elimination", + "anatomical entity morphology phenotype", + "Abnormal localization of kidney", + "size of skull phenotype", + "digit 1", "face", "aplasia or hypoplasia of manual digit", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "regulation of metabolic process", - "Decreased body weight", - "manual digit 1", - "autopodial extension", - "digit plus metapodial segment", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", - "excretory system", - "bone marrow cell", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", "circulatory system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "abnormal myeloid cell morphology", - "increased biological_process", - "sexual reproduction", - "Macule", + "bone marrow cell", + "Pancytopenia", + "subdivision of organism along appendicular axis phenotype", + "eye phenotype", + "Abnormal cellular immune system morphology", + "absent multicellular anatomical structure in the limb", + "endocrine system phenotype", + "multicellular organism morphology phenotype", + "skeletal system", + "cavitated compound organ", + "Abnormal leukocyte count", + "number of anatomical enitites of type neutrophil phenotype", + "Abnormal myeloid cell morphology", + "U-shaped kidney", + "digit 1 or 5", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "subdivision of skeletal system phenotype", + "Abnormal reticulocyte morphology", + "number of hematopoietic cell phenotype", + "postcranial axial skeleton", + "absent radius endochondral element", + "skeleton", + "Abnormal bleeding", + "immune system phenotype", + "decreased functionality of the organ", + "aplasia or hypoplasia of manual digit 1", + "reproductive system physiology phenotype", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "ear phenotype", + "anatomical entity", + "absent autopodial extension", + "hematopoietic system phenotype", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Abnormal immune system morphology", + "number of platelet phenotype", + "external genitalia", + "skeleton of pectoral complex", + "eukaryotic cell", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "arm bone", + "Abnormal myeloid leukocyte morphology", + "absent forelimb zeugopod bone in the forelimb", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "structure with developmental contribution from neural crest phenotype", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "immune system", "organ system subdivision", - "abnormal blood cell", "erythrocyte", - "quality", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "DNA damage response", - "lateral structure", - "abnormal vasculature", - "abnormal genitourinary system", - "changed developmental process rate", - "Abnormal cerebral morphology", - "abnormal blood circulation", - "arm bone", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "abnormal hematopoietic system", - "Renal agenesis", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "nucleate cell", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "renal system", - "absent digit", - "phenotype", + "decreased number of cell", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "Abnormality of skin pigmentation", + "phenotypic effect", + "size of anatomical entity phenotype", + "absent anatomical entity in the multicellular organism", + "organ physiology phenotype", "Abnormal cell morphology", - "skeletal element", - "zeugopod", - "Abnormal cellular immune system morphology", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal kidney morphology", + "phenotype", + "limb endochondral element", + "digit plus metapodial segment", + "skeletal system phenotype", + "absent anatomical entity", + "Bruising susceptibility", + "absent compound organ in the renal system", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "bone of appendage girdle complex phenotype", + "number of anatomical enitites of type lateral structure phenotype", + "shape kidney", + "ectoderm-derived structure physiology phenotype", + "negative regulation of metabolic process", + "nervous system morphology phenotype", + "manual digit 1 or 5", + "myeloid leukocyte", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "manual digitopodium bone", + "localised lateral structure", + "vision/eye phenotype", + "absent multicellular anatomical structure in the skeletal system", + "organism subdivision", + "cell cycle phenotype", + "regional part of brain phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "neutrophil phenotype", + "external male genitalia", + "aplasia or hypoplasia of skeleton", + "cellular response to stress phenotype", + "craniocervical region morphology phenotype", + "localised multicellular anatomical structure", "main body axis", - "decreased spermatogenesis", - "regional part of nervous system", - "abdominal segment element", - "abnormal reproductive system morphology", - "Abnormal conjugate eye movement", - "forelimb bone", + "decreased functionality of the reproductive organ", "non-connected functional system", - "Abnormality of the upper urinary tract", - "abnormal renal system", + "absent bone of appendage girdle complex in the limb", + "number of cell phenotype", + "number of leukocyte phenotype", + "platelet", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "Abnormal limb bone morphology", + "absent digit", + "musculoskeletal system", + "absent material anatomical entity in the forelimb", + "manual digit phenotype", + "anatomical system phenotype", + "musculature phenotype", + "number of myeloid cell phenotype", + "DNA metabolic process phenotype", + "multi-limb segment region phenotype", "hemolymphoid system", - "biological_process", - "myeloid leukocyte", - "entire sense organ system", - "absent radius bone in the independent continuant", - "Abnormal localization of kidney", - "biological regulation", - "Global developmental delay", - "abdominal segment of trunk", - "renal collecting system", - "Ectopic kidney", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal immune system", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", - "abnormal renal system morphology", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "absent kidney in the renal system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "reproduction", - "absent anatomical entity in the multicellular organism", + "decreased number of material anatomical entity", + "absent mesoderm-derived structure in the limb", + "autopod region phenotype", + "Abnormal nervous system physiology", + "Abnormality of the immune system", "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", + "anatomical structure mass phenotype", "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Aplasia/hypoplasia involving the skeleton", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "subdivision of trunk", - "absent manual digit", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "body proper", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "continuant", - "abnormality of ear physiology", + "decreased functionality of the anatomical structure", + "Thrombocytopenia", + "leukocyte", + "increased biological_process in skin of body", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "number of anatomical enitites of type compound organ phenotype", + "cellular response to stimulus phenotype", + "absent bone element in the forelimb", + "Abnormal appendicular skeleton morphology", + "anatomical structure physiology phenotype", + "bone element", + "mesoderm-derived structure phenotype", + "decreased number of hematopoietic cell", "absent anatomical entity in the forelimb", "multicellular anatomical structure", - "cellular metabolic process", - "Abnormality of neutrophils", - "leukocyte", - "abnormal gamete generation", - "protein-containing material entity", - "gamete generation", - "abnormally decreased number of cell in the independent continuant", - "abnormal neutrophil", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "phalanx of manus", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", - "abnormal nervous system", - "paired limb/fin segment", - "abnormality of camera-type eye physiology", - "immune system", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "Absent forearm bone", - "Leukemia", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "blood cell", - "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", - "Abnormal myeloid cell morphology", - "U-shaped kidney", - "digit 1 or 5", - "skeleton of manual digitopodium", - "primary circulatory organ", - "granulocyte", - "Complete duplication of phalanx of hand", - "limb bone", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "viscus", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "aplastic manual digit 1", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "Abnormality of globe size", + "bone element phenotype", + "cell cycle", + "pectoral complex", + "decreased size of the manual digit", + "trunk region element", + "absent limb long bone in the forelimb", + "Anemic pallor", + "cellular metabolic process", + "superficial fascia", + "Abnormality of neutrophils", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "digit 1 digitopodial skeleton", + "decreased number of myeloid cell", + "decreased size of the autopodial extension", + "absent bone of pectoral complex in the limb", + "process", + "anatomical entity morphology in the pectoral complex phenotype", + "number of anatomical enitites of type kidney phenotype", + "Abnormal granulocyte morphology", + "glandular system", + "Abnormal male external genitalia morphology", + "subdivision of head phenotype", + "blood cell phenotype", + "decreased number of granulocyte", + "multicellular anatomical structure phenotype", + "regulation of metabolic process", + "Decreased body weight", + "decreased size of the ectoderm-derived structure", + "manual digit 1", + "autopodial extension", + "absent trunk region element in the renal system", + "continuant", + "paired limb/fin phenotype", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "musculature of body", + "camera-type eye phenotype", + "manus", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "integument phenotype", "Abnormal eye physiology", "segment of autopod", + "response to stimulus phenotype", "reproductive system", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal granulocyte morphology", - "abnormally decreased number of granulocyte", - "manual digit 1 plus metapodial segment", - "abdomen", - "neutrophil", - "Complete duplication of thumb phalanx", - "manual digit 1 phalanx", - "abnormal forelimb zeugopod bone", - "Abnormal myeloid leukocyte morphology", - "Pancytopenia", - "abnormal head", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", - "organism", - "programmed DNA elimination", - "obsolete cell", - "internal male genitalia", - "Abnormal granulocyte count", + "anatomical entity morphology in the manus phenotype", + "sensory perception of mechanical stimulus phenotype", + "anatomical line between pupils", + "independent continuant", + "aplastic manual digit 1", + "number of anatomical enitites of type organism subdivision phenotype", + "anatomical structure", + "localised trunk region element", + "absent lateral structure", + "Anemia", + "manus bone", + "Abnormality of the hand", + "radius bone", + "Subcutaneous hemorrhage", + "absent organism subdivision in the multicellular organism", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "limb segment", + "cellular organisms", + "Abnormal neutrophil count", + "forelimb morphology phenotype", + "absent manual digit", + "Abnormal thumb morphology", + "subdivision of trunk", + "subdivision of organism along appendicular axis", + "absent anatomical structure in the multicellular organism", + "telencephalon phenotype", + "male reproductive system phenotype", + "autopodial skeleton", + "DNA damage response", + "lateral structure", + "cellular process phenotype", + "multicellular organism phenotype", + "external genitalia phenotype", + "system process", + "Abnormality of mental function", + "external male genitalia phenotype", + "absent organ in the multicellular organism", + "multicellular organismal process", + "Hypergonadotropic hypogonadism", + "material anatomical entity physiology phenotype", + "number of anatomical enitites of type granulocyte phenotype", + "reproductive structure physiology phenotype", + "behavior phenotype", + "forelimb zeugopod bone", + "nervous system", + "renal system", + "endochondral bone phenotype", + "cognition", + "absent abdominal segment element", + "localised anatomical structure", + "simple eye phenotype", + "abdomen element", + "absent anatomical structure", + "localised kidney", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "absent cavitated compound organ", + "Abnormal renal morphology", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "renal system phenotype", + "nucleic acid metabolic process", + "absent endochondral bone in the limb", + "renal collecting system", + "immune system morphology phenotype", + "Ectopic kidney", + "Hearing abnormality", + "absent anatomical structure in the renal system", + "primary circulatory organ", + "skeleton of manual digitopodium", + "absent endochondral bone", + "localised organ", + "body proper", + "DNA repair phenotype", + "skeleton of digitopodium", + "Short digit", + "absent multicellular anatomical structure in the renal system", "eye", "compound organ", "zeugopodial skeleton", "limb long bone", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal hematopoietic cell morphology", - "biological phase", - "autopod bone", - "mesoderm-derived structure", - "abnormal manus", - "craniocervical region", - "abnormal forebrain morphology", + "Finger aplasia", + "abdominal segment element phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "absent radius endochondral element in the forelimb", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "Irregular hyperpigmentation", + "male organism", + "negative regulation of gene expression phenotype", + "localised compound organ", + "Abnormal granulocyte count", + "skin of body phenotype", + "Abnormality of the kidney", + "trunk", + "absent trunk region element in the multicellular organism", + "blood cell", + "Abnormality of the genitourinary system", + "excretory system", + "subdivision of organism along main body axis", + "Abnormal conjugate eye movement", + "renal/urinary system phenotype", + "forelimb bone", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "upper urinary tract phenotype", + "integument", + "platelet phenotype", + "biological_process", + "genitourinary system phenotype", + "decreased length of digit", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "upper urinary tract", + "Growth delay", + "kidney", + "regional part of nervous system", + "telencephalon morphology phenotype", + "skull phenotype", + "forelimb", + "Abnormal forebrain morphology", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "limb long bone phenotype", "multi-tissue structure", - "abnormal craniocervical region morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", + "regulation of macromolecule biosynthetic process phenotype", "Decreased head circumference", - "telencephalon", + "Abnormality of the nervous system", + "central nervous system morphology phenotype", + "cardiovascular system morphology phenotype", "Growth abnormality", "axial skeletal system", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "abnormal head morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", + "absent arm bone", + "reproductive organ", + "primary metabolic process phenotype", + "forebrain morphology phenotype", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", "decreased size of the multicellular organism", + "Abnormal bone marrow cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", "Abnormality of skull size", - "spermatogenesis", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "negative regulation of cellular metabolic process", - "Eukaryota", - "kinesthetic behavior", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "manual digit 1 phalanx endochondral element", - "tissue", - "absent anatomical entity in the semen", + "craniocervical region", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "subdivision of organism along main body axis phenotype", + "regulation of gene expression phenotype", + "system", + "brain morphology phenotype", + "forelimb skeleton", + "endocrine system", + "head morphology phenotype", + "Hematological neoplasm", + "regional part of nervous system phenotype", + "decreased length of manual digit 1 or 5", + "decreased functionality of the multicellular anatomical structure", + "ectoderm-derived structure phenotype", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "absent limb bone in the forelimb", + "erythroid lineage cell", + "telencephalon", + "head phenotype", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "decreased sensory perception of mechanical stimulus", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "cranial skeletal system", + "craniocervical region phenotype", + "brain", + "Abnormality of head or neck", + "Abnormal skull morphology", + "Abnormal brain morphology", + "absent material anatomical entity in the skeletal system", "limb skeleton subdivision", + "location of anatomical entity phenotype", "skull", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "absent sperm in the semen", - "bone of pectoral complex", - "decreased length of anatomical entity", "autopod endochondral element", + "homeostatic process phenotype", "Abnormality of limb bone", "central nervous system", - "regional part of brain", - "forelimb", - "Abnormal forebrain morphology", - "multicellular organismal reproductive process", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Abnormal renal morphology", - "abnormal external genitalia", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "reproductive organ", - "abnormal skull morphology", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "heart plus pericardium", - "Cryptorchidism", - "thoracic segment organ", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "circulatory organ", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Abnormality of cardiovascular system morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "integumental system", - "integument", - "absent radius bone in the forelimb", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Growth delay", - "kidney", - "abnormal biological_process", - "Abnormality of skin morphology", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", + "Abnormality of the genital system", + "reproductive organ physiology phenotype", + "decreased functionality of the material anatomical entity", + "Puberty and gonadal disorders", + "myeloid leukocyte phenotype", + "forebrain", + "gonad physiology phenotype", + "nucleate cell", + "reproductive structure phenotype", + "multicellular anatomical structure physiology phenotype", + "limb endochondral element phenotype", + "number of anatomical enitites of type abdomen element phenotype", + "absent arm bone in the forelimb", + "viscus", + "anatomical entity mass phenotype", + "reproductive organ phenotype", + "sense organ phenotype", + "Abnormality of reproductive system physiology", + "absent lateral structure in the renal system", + "behavior process phenotype", + "reproductive system phenotype", + "skull morphology phenotype", + "localised reproductive structure", + "gonad phenotype", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", "Neutropenia", "reproductive structure", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "germ line cell", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal integument", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "limb segment", - "absent sperm", - "abnormal endocrine system", - "abnormally decreased number of reticulocyte", + "vasculature phenotype", + "growth phenotype", "Abnormality of the endocrine system", - "Abnormality of reproductive system physiology", - "gamete", - "male gamete", - "abnormally decreased functionality of the gonad", - "Abnormality of the genital system", - "glandular system", - "absent kidney", - "subdivision of skeletal system", - "abnormally decreased number of neutrophil", - "absent kidney in the independent continuant", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "manus bone", - "radius bone", - "Abnormality of the hand", - "Anemia", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", + "number of anatomical enitites of type skeletal element phenotype", + "number of anatomical enitites of type abdominal segment element phenotype", + "neutrophil", + "absent abdomen element", + "decreased number of anatomical structure", + "absent cavitated compound organ in the renal system", + "number of anatomical enitites of type organ phenotype", + "Duplication of phalanx of hand", + "number of anatomical enitites of type cavitated compound organ phenotype", + "absent organ", + "manual digit phalanx endochondral element", + "number of anatomical enitites of type trunk region element phenotype", + "decreased functionality of the reproductive structure", + "Cryptorchidism", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "absent trunk region element", + "Renal agenesis", + "motile cell", + "absent abdominal segment element in the renal system", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "absent organ in the renal system", + "digit morphology phenotype", + "absent abdomen element in the renal system", + "absent material anatomical entity in the renal system", + "Abnormal platelet count", + "absent compound organ", + "oxygen accumulating cell", + "Abnormality of the integument", + "erythroid lineage cell morphology phenotype", + "sensory perception of mechanical stimulus", + "Abnormal upper limb bone morphology", + "skin of body", + "integumental system", + "material anatomical entity", + "skin of body morphology phenotype", + "Abnormal skin morphology", + "shape of continuant phenotype", + "anucleate cell", + "Abnormality of thrombocytes", + "limb bone phenotype", + "secretory cell", "Abnormality of the skeletal system", "biogenic amine secreting cell", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal cellular process", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", - "anucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "cellular organisms", - "Abnormal neutrophil count", - "obsolete multicellular organism reproduction", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "digit 1", - "abnormal platelet morphology", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "developmental process involved in reproduction", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "abnormal testis morphology", - "forelimb zeugopod", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "germ cell", - "absent gamete", - "sperm", - "abnormal gamete", - "Reticulocytopenia", - "organism substance", - "haploid cell", - "disconnected anatomical group", - "abnormal cell", - "male reproductive organ", - "internal genitalia", - "abnormal internal genitalia", - "platelet", - "absent sperm in the independent continuant", + "absent bone of appendage girdle complex", + "organ phenotype", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "testis", + "localised reproductive organ", + "gonad", + "localised gonad", "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "Abnormal external genitalia", - "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "interphase", - "semen", + "cardiovascular system phenotype", + "localised abdomen element", "Abnormal testis morphology", - "male germ cell", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "male organism", - "abnormal granulocyte morphology", - "Azoospermia", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "testis", - "external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "Aplasia involving bones of the upper limbs", - "eukaryotic cell", - "abnormal limb long bone morphology", - "absent forelimb zeugopod bone", - "forelimb zeugopod skeleton", - "abnormal size of skull", + "disconnected anatomical group", + "male reproductive organ", + "testis phenotype", + "response to stress phenotype", + "Small for gestational age", + "Abnormal forearm morphology", + "absent forelimb bone in the forelimb", + "absent limb bone in the limb", + "aplastic forelimb zeugopod bone", "forelimb long bone", - "3-D shape anatomical entity in independent continuant", + "serotonin secreting cell", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", + "radius endochondral element", "Abnormal cellular physiology", "absent anatomical entity in the skeletal system", + "Aplasia involving bones of the upper limbs", + "Abnormal cerebral morphology", + "limb segment phenotype", + "absent endochondral element in the limb", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "forelimb zeugopod", + "absent limb long bone", + "absent limb endochondral element in the forelimb", + "regulation of biological process phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "number of anatomical enitites of type endochondral element phenotype", + "absent skeletal element in the limb", "Pallor", - "abnormal bone of pectoral complex morphology", "absent radius bone", - "Absent radius", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal behavior", - "radius endochondral element", - "sensory perception of mechanical stimulus", - "abnormally decreased number of anatomical entity", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormal radius bone morphology", - "aplastic forelimb zeugopod bone", - "Short finger", - "Abnormal reticulocyte morphology", - "decreased length of anatomical entity in independent continuant", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "decreased length of digit", - "skeleton of digitopodium", - "Short digit", - "reticulocyte", + "absent anatomical structure in the skeletal system", ], }, { "id": "MONDO:0001083", "category": "biolink:Disease", "name": "Fanconi renotubular syndrome", + "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", + "provided_by": "phenio_nodes", "xref": [ "DOID:1062", "GARD:9120", + "MEDGEN:4653", "MESH:D005198", "NANDO:2100027", "NANDO:2200187", "NCIT:C3034", + "SCTID:236466005", "SCTID:40488004", "UMLS:C0015624", ], - "provided_by": "phenio_nodes", - "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", "synonym": [ "De toni-Fanconi syndrome", "De toni-debre-Fanconi syndrome", @@ -5279,10 +6499,13 @@ def autocomplete_response(): "id": "MONDO:0019391", "category": "biolink:Disease", "name": "Fanconi anemia", + "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.", + "provided_by": "phenio_nodes", "xref": [ "DOID:13636", "GARD:6425", "ICD9:284.09", + "MEDGEN:41967", "MESH:D005199", "MedDRA:10055206", "NANDO:1200303", @@ -5295,8 +6518,6 @@ def autocomplete_response(): "SCTID:30575002", "UMLS:C0015625", ], - "provided_by": "phenio_nodes", - "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.", "synonym": [ "Fanconi anemia", "Fanconi pancytopenia", @@ -5309,43 +6530,34 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0010469", - "HP:0000377", + "HP:0000047", "HP:0002575", "HP:0000483", "HP:0000238", "HP:0001249", + "HP:0001000", "HP:0100587", "HP:0100026", "HP:0040071", - "HP:0012639", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0002245", - "HP:0002023", - "HP:0001824", - "HP:0001646", "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000453", - "HP:0000047", - "HP:0007874", - "HP:0002650", "HP:0000252", - "HP:0001882", - "HP:0001510", - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0002863", "HP:0100867", "HP:0100760", "HP:0100542", + "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", @@ -5359,17 +6571,23 @@ def autocomplete_response(): "HP:0002827", "HP:0002823", "HP:0002251", + "HP:0002245", + "HP:0002023", "HP:0002007", + "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", + "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", + "HP:0001510", "HP:0001347", "HP:0001199", "HP:0000813", @@ -5381,6 +6599,7 @@ def autocomplete_response(): "HP:0000492", "HP:0000486", "HP:0000478", + "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -5399,7 +6618,9 @@ def autocomplete_response(): "HP:0000010", "HP:0012745", "HP:0012210", + "HP:0007874", "HP:0002664", + "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -5410,50 +6631,41 @@ def autocomplete_response(): "HP:0003220", "HP:0002817", "HP:0001903", + "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", "HP:0001053", - "HP:0001000", ], "has_phenotype_label": [ - "Absent testis", - "Abnormal pinna morphology", + "Hypospadias", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", "Intellectual disability", + "Abnormality of skin pigmentation", "Abnormal preputium morphology", "Arteriovenous malformation", "Abnormal morphology of ulna", - "Abnormal nervous system morphology", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Meckel diverticulum", - "Anal atresia", - "Weight loss", - "Abnormal aortic valve morphology", "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", "Microcephaly", - "Leukopenia", - "Growth delay", - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", - "Oligohydramnios", + "Myelodysplasia", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", + "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", @@ -5465,19 +6677,25 @@ def autocomplete_response(): "Clinodactyly of the 5th finger", "Hypoplasia of the ulna", "Hip dislocation", - "Abnormality of femur morphology", + "Abnormal femur morphology", "Aganglionic megacolon", + "Meckel diverticulum", + "Anal atresia", "Frontal bossing", + "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", + "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", + "Growth delay", "Hyperreflexia", "Triphalangeal thumb", "Bicornuate uterus", @@ -5489,6 +6707,7 @@ def autocomplete_response(): "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", + "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -5507,7 +6726,9 @@ def autocomplete_response(): "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", + "Almond-shaped palpebral fissure", "Neoplasm", + "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -5518,1036 +6739,1229 @@ def autocomplete_response(): "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", + "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", "Hypopigmented skin patches", - "Abnormality of skin pigmentation", ], "has_phenotype_count": 106, "has_phenotype_closure": [ "HP:0001010", - "UPHENO:0084987", - "UPHENO:0085070", "HP:0001873", - "UPHENO:0086173", - "CL:0000458", - "UPHENO:0085189", - "UPHENO:0086049", - "CL:0000233", + "UPHENO:0080010", "CL:0000457", + "UPHENO:0077373", + "CL:0000233", + "CL:0000458", "UPHENO:0085344", "HP:0011875", - "HP:0001939", + "UPHENO:0086173", + "HP:0011893", + "CL:0000738", + "UPHENO:0088166", + "UPHENO:0035160", + "UPHENO:0088319", + "UPHENO:0076675", + "UBERON:0000179", + "CL:0000255", + "CL:0000219", + "UBERON:0000178", + "UPHENO:0077348", + "UPHENO:0085410", + "UPHENO:0049904", "GO:0008152", "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0048871", - "UPHENO:0088162", - "UPHENO:0088170", - "CL:0000329", "HP:0010972", - "HP:0020047", - "CL:0000764", - "HP:0005522", - "HP:0001877", - "HP:0025461", - "UPHENO:0084928", - "GO:0030218", + "GO:0030099", + "GO:0030097", + "CL:0000988", + "GO:0048872", + "GO:0042592", "GO:0002376", "GO:0009987", - "GO:0042592", - "GO:0048869", + "HP:0001877", "CL:0000232", - "GO:0048872", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", - "HP:0002818", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "UPHENO:0088170", + "CL:0000764", + "CL:0001035", + "GO:0030218", + "UPHENO:0088162", + "HP:0025461", "UBERON:0015001", "UPHENO:0080187", - "HP:0012745", + "HP:0002650", + "HP:0200005", + "UPHENO:0041462", + "UPHENO:0069119", + "UPHENO:0046755", "UPHENO:0075198", + "UPHENO:0069562", "HP:0000010", "UPHENO:0002263", + "UPHENO:0002948", + "UPHENO:0053561", + "CL:0000329", + "UPHENO:0053632", + "UPHENO:0002940", + "UPHENO:0053647", "UPHENO:0053644", + "UPHENO:0053572", "HP:0000028", + "UPHENO:0053559", + "UBERON:0000056", + "UPHENO:0002636", "UBERON:0036295", + "HP:0000072", "UBERON:0006555", - "UPHENO:0002806", + "UPHENO:0003101", "HP:0025633", - "UBERON:0000056", - "UPHENO:0086132", + "UPHENO:0002859", + "UPHENO:0002426", + "UPHENO:0002377", + "UPHENO:0002427", "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", - "HP:0000083", + "UPHENO:0002422", "HP:0000135", + "UPHENO:0003056", + "UPHENO:0002381", + "UPHENO:0066972", + "UPHENO:0066945", + "UPHENO:0033589", + "UPHENO:0002806", + "UPHENO:0033612", "HP:5201015", - "UPHENO:0034110", - "UPHENO:0063513", + "UPHENO:0077399", + "UPHENO:0001392", + "HP:0000218", + "UPHENO:0063518", + "UPHENO:0063524", "UPHENO:0081423", + "UPHENO:0063529", + "UPHENO:0063519", "HP:0000268", - "UPHENO:0001208", "UPHENO:0072402", - "UBERON:0001084", + "UPHENO:0072332", "UPHENO:0087058", - "UBERON:0013766", - "UPHENO:0087928", "UBERON:1000021", + "UPHENO:0087928", + "UPHENO:0072266", + "UBERON:0013766", + "UPHENO:0072293", + "UBERON:0001084", "UPHENO:0084734", "HP:0001999", "HP:0000324", - "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0076704", + "UPHENO:0041151", "UPHENO:0041083", - "UPHENO:0081786", - "UBERON:0004768", - "HP:0004322", - "HP:0030791", - "HP:0000277", - "UPHENO:0083646", - "UPHENO:0081314", - "UPHENO:0084457", + "HP:0000347", "HP:0000286", "HP:0009118", - "UPHENO:0088116", + "UPHENO:0081314", "CL:0000081", "UBERON:0012360", + "UPHENO:0002732", + "UBERON:0001710", + "UPHENO:0076780", + "UPHENO:0002815", + "HP:0011873", + "UPHENO:0081788", + "UPHENO:0088116", + "UPHENO:0002772", + "UPHENO:0081141", + "HP:0012745", + "UPHENO:0002818", "UPHENO:0080087", - "UPHENO:0069249", "UBERON:0001708", - "UBERON:0011156", "UBERON:0003278", "UBERON:0001684", - "UPHENO:0081141", + "UPHENO:0002761", + "HP:0000277", + "UBERON:0004768", + "UPHENO:0081786", + "UPHENO:0002942", "HP:0009116", - "HP:0000347", - "UBERON:0001710", - "HP:0009122", - "HP:0011873", - "UPHENO:0081788", - "UPHENO:0005518", "HP:0000365", - "GO:0050954", "UPHENO:0052970", - "HP:0000549", + "UPHENO:0005513", + "UPHENO:0005518", + "UPHENO:0087894", + "UPHENO:0063621", + "HP:0000453", + "HP:0000415", + "HP:0000366", + "UPHENO:0002906", + "UPHENO:0063595", + "UPHENO:0033635", + "UBERON:0004771", + "UBERON:0000003", "HP:0000486", - "UPHENO:0052164", - "UPHENO:0050236", - "GO:0050953", "GO:0034101", "UPHENO:0050622", - "HP:0000520", + "UPHENO:0052165", + "UPHENO:0052159", + "UPHENO:0052162", + "UPHENO:0050236", + "GO:0050953", + "UPHENO:0052161", + "UPHENO:0052164", "UPHENO:0085881", - "HP:0000568", - "UPHENO:0075219", + "HP:0000520", + "UPHENO:0068914", "HP:0100887", - "UPHENO:0066972", - "UPHENO:0080581", - "UPHENO:0079837", + "UPHENO:0069161", + "UPHENO:0075219", + "UPHENO:0002467", + "UPHENO:0003044", "HP:0000359", - "HP:0000496", "UPHENO:0079828", + "HP:0031704", + "HP:0000496", "HP:0007670", "UPHENO:0002240", - "UPHENO:0080602", - "UPHENO:0003044", - "HP:0011821", - "HP:0012547", - "HP:0031704", - "UBERON:0003100", + "UPHENO:0079837", "HP:0000008", - "UBERON:0003975", - "UPHENO:0003053", - "UPHENO:0041033", - "HP:0010460", "UPHENO:0005170", - "UBERON:0000993", - "UBERON:0013515", + "UBERON:0003100", "HP:0000130", + "UPHENO:0041664", + "UPHENO:0041033", + "UPHENO:0003053", "HP:0002719", "UPHENO:0076766", - "UBERON:0012358", - "GO:0002262", - "UBERON:0003620", - "UBERON:0006048", + "HP:0010460", + "UBERON:0000993", + "UPHENO:0046471", + "UBERON:0013515", + "UBERON:0003975", + "UPHENO:0002977", "UBERON:5006048", - "UBERON:0015025", - "HP:0001172", + "UBERON:5102389", "UBERON:0015024", - "UPHENO:0021800", + "UBERON:0001463", + "UBERON:0006048", + "UBERON:0015025", "UPHENO:0076724", - "UBERON:5102389", - "GO:0007610", + "HP:0001172", + "UPHENO:0050620", + "GO:0060004", "HP:0000708", - "HP:0001347", - "NBO:0000389", - "UPHENO:0050606", - "UPHENO:0083263", - "UPHENO:0049622", + "HP:0100022", "UBERON:0004742", "NBO:0000388", - "HP:0100022", - "UPHENO:0080585", - "UPHENO:0050613", + "NBO:0000338", + "UPHENO:0083263", + "UPHENO:0050875", + "UPHENO:0050079", + "GO:0007610", + "UPHENO:0051276", + "UPHENO:0079826", + "UPHENO:0055094", + "UPHENO:0049703", + "UPHENO:0049708", "NBO:0000403", + "NBO:0000389", + "UPHENO:0050606", + "UPHENO:0049622", + "UPHENO:0052160", + "UPHENO:0050106", + "UPHENO:0005596", "NBO:0000001", - "GO:0050896", - "UPHENO:0041151", - "UPHENO:0078622", - "UPHENO:0050620", - "GO:0060004", - "UPHENO:0050079", - "GO:0050905", - "NBO:0000338", - "UPHENO:0080393", - "HP:0001537", - "UPHENO:0076794", - "HP:0001551", + "UPHENO:0050068", + "UPHENO:0052694", + "UPHENO:0000541", + "UPHENO:0002712", + "HP:0004298", "UBERON:0000474", "HP:0010866", - "UPHENO:0086122", + "GO:0050905", + "UPHENO:0033610", + "HP:0001551", "UBERON:0003697", - "HP:0004298", - "UBERON:0007118", "HP:0003549", + "UPHENO:0076794", + "UBERON:0007118", "HP:0004299", - "UPHENO:0002712", - "UPHENO:0019890", - "UPHENO:0069254", - "UBERON:0002085", + "UBERON:0017672", + "UPHENO:0002564", + "UPHENO:0086122", + "UPHENO:0002532", + "HP:0001560", + "UPHENO:3000001", + "UPHENO:0075949", + "HP:0001197", + "UPHENO:0053456", + "UBERON:0000173", + "UBERON:0000323", + "HP:0001562", + "UPHENO:0086610", + "UBERON:0002081", "UPHENO:0086857", - "UPHENO:0086128", - "UPHENO:0015329", - "UPHENO:0084715", - "HP:0001714", - "UPHENO:0019886", - "HP:0001641", - "HP:0011563", - "UBERON:0010688", - "UPHENO:0086855", - "HP:0000218", - "UBERON:0002146", + "UPHENO:0033587", "GO:0007600", "HP:0001671", - "UBERON:0003037", - "UBERON:0002094", - "HP:0011025", "UPHENO:0086863", - "HP:0001707", - "UPHENO:0084489", - "HP:0001636", - "HP:0011545", - "HP:0002623", - "UPHENO:0086854", - "UPHENO:0042775", + "UPHENO:0069254", + "UBERON:0002085", + "UPHENO:0002907", + "HP:0011994", + "HP:0011563", + "UPHENO:0033596", + "UPHENO:0084715", + "UBERON:0003037", + "UPHENO:0084482", + "UPHENO:0004386", "UBERON:0002099", + "HP:0011545", + "UPHENO:0001101", + "UBERON:0010688", + "UPHENO:0086855", "UPHENO:0086864", - "HP:0031654", - "UPHENO:0084482", - "UPHENO:0076781", - "UBERON:0000383", - "UBERON:0005983", + "UPHENO:0003828", + "UPHENO:0086854", + "HP:0001636", + "UPHENO:0000997", + "UPHENO:0015282", + "UPHENO:0015291", + "HP:0001710", + "UPHENO:0001300", + "UPHENO:0084489", + "HP:0001637", "HP:0001638", + "UPHENO:0066908", + "UPHENO:0077800", + "UPHENO:0088337", + "UPHENO:0002393", "UPHENO:0024906", "UBERON:0018260", - "HP:0001637", - "UPHENO:0077800", + "UBERON:0005983", + "UPHENO:0002292", + "UPHENO:0004513", + "UPHENO:0003019", + "UPHENO:0033593", + "UPHENO:0072315", + "UPHENO:0015277", + "UPHENO:0003048", + "UPHENO:0002804", + "HP:0010987", + "UPHENO:0005134", + "UPHENO:0033581", + "HP:0001881", + "UPHENO:0033568", + "HP:0009122", + "UPHENO:0015281", + "GO:0050896", + "UPHENO:0015331", "UBERON:0004716", - "UBERON:0003834", - "UBERON:0005985", - "UBERON:0018674", - "HP:0001643", - "UPHENO:0087309", + "UPHENO:0033615", + "UPHENO:0090191", + "UPHENO:0015308", + "UBERON:0006876", + "UBERON:0002201", "UBERON:0011695", + "UPHENO:0033609", "UBERON:0003513", - "UPHENO:0015290", + "UPHENO:0033598", + "UPHENO:0033602", + "UBERON:0018674", + "UPHENO:0003395", + "UPHENO:0033573", "UPHENO:0087018", - "UBERON:0006876", - "UBERON:0002201", - "UBERON:0003498", + "UBERON:0005985", + "HP:0001643", + "UBERON:0003834", + "UPHENO:0076743", + "HP:0001713", + "UBERON:0005337", + "UBERON:0035553", + "UBERON:0005623", + "UBERON:0005725", + "UPHENO:0086858", + "HP:0001627", + "HP:0000069", + "UPHENO:0087070", + "UBERON:0005956", + "UBERON:0004151", + "UPHENO:0001252", + "UPHENO:0063527", + "UBERON:0004145", + "UBERON:0000946", + "UBERON:0015410", + "UBERON:0002084", + "HP:0001646", + "UBERON:0007100", "UBERON:0010191", - "UPHENO:0076809", "HP:0002692", "UBERON:0003519", + "UBERON:0013768", + "UPHENO:0076809", "HP:0001679", - "UPHENO:0082454", - "UPHENO:0041369", "HP:0001631", "UPHENO:0041565", - "UPHENO:0078246", + "UPHENO:0041369", + "UPHENO:0004900", + "UPHENO:0084767", "UPHENO:0078347", - "UBERON:0003457", - "UBERON:0011300", - "UPHENO:0087530", - "UPHENO:0088115", - "UPHENO:0084465", - "HP:0002007", - "HP:0430000", + "UPHENO:0002883", + "UPHENO:0033559", + "UPHENO:0082794", + "GO:0040007", + "UPHENO:0054374", + "HP:0001507", + "UPHENO:0010763", + "UPHENO:0041203", + "HP:0004325", + "HP:0002818", + "UPHENO:0054304", + "UBERON:0015228", + "UPHENO:0010808", + "HP:0004323", + "UPHENO:0049874", + "UPHENO:0082761", "UPHENO:0086595", "HP:0002538", - "UPHENO:0076732", - "UBERON:0007914", - "HP:0002683", - "UPHENO:0002700", - "UPHENO:0055092", - "UPHENO:0005994", + "UBERON:0004756", + "HP:0002007", + "HP:0430000", + "HP:0000290", + "UPHENO:0084465", "UBERON:0008200", "UBERON:0003528", "UBERON:0000209", + "UPHENO:0041041", + "UPHENO:0082905", + "UBERON:0001869", + "UPHENO:0087530", + "UPHENO:0088115", + "UPHENO:0004149", + "UPHENO:0055092", + "UPHENO:0005994", "UBERON:0004339", "UBERON:0010364", - "UBERON:0011158", + "UBERON:0005401", + "UBERON:0011300", + "UBERON:0003457", "UBERON:0002020", "UBERON:0000956", + "UBERON:0001457", + "UBERON:0008907", + "UBERON:0016525", + "UPHENO:0072414", "UBERON:0000203", - "UPHENO:0041041", - "UPHENO:0082905", - "UBERON:0004756", - "UBERON:0001869", - "HP:0000290", "UBERON:0016529", - "UBERON:0005401", - "UBERON:0002410", - "UBERON:0000045", - "UPHENO:0087601", - "HP:0001763", - "UPHENO:0086978", - "UPHENO:0087933", - "UPHENO:0085068", - "HP:0025028", + "UPHENO:0002872", + "UBERON:0002268", + "UPHENO:0002538", + "HP:0000639", + "UPHENO:0049699", + "UBERON:0003128", + "HP:0002683", + "UBERON:0007914", + "UPHENO:0002700", + "UPHENO:0063577", + "HP:0011277", + "UPHENO:0063599", + "UPHENO:0063787", + "UPHENO:0074227", + "UBERON:0001245", + "UPHENO:0002246", + "UPHENO:0063562", + "UPHENO:0086614", + "UPHENO:0002839", + "UPHENO:0074230", + "UPHENO:0074245", + "UPHENO:0074228", + "HP:0001549", + "UBERON:0002116", + "UPHENO:0010795", + "UBERON:0016526", + "UBERON:0001805", + "UPHENO:0002941", "UBERON:0001809", "UBERON:0003338", - "HP:0410014", - "UPHENO:0002941", - "HP:0410015", - "UPHENO:0087121", - "UBERON:0002005", - "UBERON:0001808", - "HP:0002251", - "UPHENO:0020258", + "UBERON:0000011", "UBERON:0016548", "UPHENO:0088171", - "UBERON:0000011", - "UPHENO:0076783", - "HP:0011277", - "UPHENO:0063599", - "HP:0031826", - "UPHENO:0081603", - "UBERON:5006052", - "UPHENO:0051003", - "UPHENO:0002678", - "UPHENO:0076744", - "HP:0040069", - "UPHENO:0088166", - "UPHENO:0087858", - "UBERON:0005409", - "HP:0005120", - "UBERON:0000489", - "UPHENO:0077874", - "UBERON:0000055", - "UPHENO:0080377", - "UBERON:0004111", - "UBERON:5102544", - "HP:0012373", - "HP:0000813", - "HP:0100542", - "GO:0001843", - "UBERON:0011374", - "UBERON:0006717", - "UPHENO:0076707", - "UPHENO:0087232", - "UBERON:0002240", - "UBERON:0000464", - "UBERON:0011164", - "UPHENO:0075655", + "UPHENO:0063520", + "HP:0410015", + "HP:0012331", + "HP:0025028", + "HP:0002251", + "HP:0002270", + "UBERON:0000045", + "UPHENO:0076773", + "UBERON:0002005", + "UBERON:0000059", + "HP:6000852", + "UBERON:0004907", + "UBERON:0000981", "HP:0005918", "UBERON:0034944", - "UPHENO:0051077", - "HP:0000001", - "UPHENO:0087950", - "UPHENO:0075148", - "UBERON:0004249", - "GO:0035295", + "UPHENO:0075945", + "UPHENO:0086091", + "UPHENO:0033616", + "HP:0001384", + "UPHENO:0081584", + "HP:0010978", + "UPHENO:0086100", + "UPHENO:0087203", + "HP:0001903", + "UPHENO:0067095", + "UPHENO:0076767", + "UBERON:0001271", + "UBERON:0010425", + "UBERON:0007823", + "UPHENO:0087974", + "UBERON:0004770", + "NBO:0000313", + "HP:0002827", + "HP:0020047", + "UPHENO:0003066", + "UBERON:0001486", + "HP:0002644", + "UBERON:0007830", + "UPHENO:0087858", + "UBERON:0016879", "UPHENO:0084729", + "UPHENO:0005517", 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- "UBERON:0000057", - "UPHENO:0088338", - "UBERON:0011215", - "GO:0048856", - "HP:0006503", - "UPHENO:0076800", - "UBERON:0002386", + "UPHENO:0011538", + "UBERON:8450002", + "UPHENO:0014351", + "UBERON:0000062", + "UPHENO:0049623", + "UBERON:0000990", + "UBERON:0003914", + "UBERON:0005913", + "UPHENO:0031179", + "UPHENO:0003005", + "BFO:0000002", + "UBERON:0000065", + "UBERON:0004571", + "UBERON:0000376", + "UBERON:0012140", + "UPHENO:0080165", + "UPHENO:0087547", + "UPHENO:0076704", + "UPHENO:0004956", "HP:0002778", - "HP:0000812", - "UPHENO:0078730", - "UPHENO:0086635", - "HP:0000240", - "UPHENO:0084763", - "UBERON:0001691", - "UPHENO:0075220", - "UBERON:0002105", - "UPHENO:0081792", + "UBERON:0010418", + "UPHENO:0086201", + "HP:0002143", + "UBERON:0001423", + "UBERON:0004176", + "UPHENO:0002861", + "HP:0410043", + "UBERON:0001968", + "HP:0001939", + "UPHENO:0005508", + "UPHENO:0078125", + "HP:0002414", + "HP:0003330", + "UPHENO:3000004", + "UBERON:0000117", + "UBERON:0034921", + "HP:0004322", + "HP:0030791", + "UPHENO:0004142", + "UPHENO:0063515", + "UBERON:0002330", + "UPHENO:0002403", + "UBERON:0000020", + "UBERON:0001004", + "UPHENO:0075933", + "UBERON:0000153", + "UPHENO:0079833", + "UBERON:0004086", + "UPHENO:0002570", + "UPHENO:0080369", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "UBERON:0003607", + "HP:0002715", + "HP:0004348", + "UPHENO:0002530", + "UPHENO:0002976", + "UBERON:0000989", + "UPHENO:0002525", + "HP:0009179", + "HP:0000795", + "UPHENO:0077418", + "UPHENO:0086172", + "UPHENO:0005058", "UBERON:0022303", "UPHENO:0076752", "HP:0011017", - "UPHENO:0020041", + "UPHENO:0001231", "UBERON:0013701", "UBERON:0011250", - "UBERON:0001690", - "UBERON:0015410", - "HP:0011842", - "UBERON:0001440", - "UPHENO:0075696", - "UBERON:0006598", - "UBERON:0004908", - "HP:0012243", - "HP:0005607", - "UBERON:0007798", + "CL:0002242", + "UPHENO:3000007", + "HP:0008062", + "UPHENO:0081313", + "UPHENO:0078730", + "UPHENO:0086635", + "HP:0000812", + "GO:0050877", + "HP:0007400", + "UBERON:0007196", + "UPHENO:0083646", + "UPHENO:0002780", + "UBERON:0015022", + "UBERON:0012241", + "UBERON:0001130", + "UPHENO:0001369", + "HP:0010161", + "HP:0010936", + "UPHENO:0031142", + "GO:0007601", + "UBERON:0000465", + "HP:0005105", + "UPHENO:0002206", + "UPHENO:0087510", + "GO:0009653", + "UBERON:0000964", + "HP:0045058", + "UPHENO:0056226", + "HP:0003468", + "UPHENO:0084511", + "UPHENO:0066927", + "UPHENO:0074237", + "HP:0011121", + "UBERON:0010230", + "UBERON:0010000", + "UBERON:0003498", + "UPHENO:0002963", + "UPHENO:0072263", + "UPHENO:0071337", + "UBERON:0008811", + "UPHENO:0084816", + "HP:0012252", "HP:0001053", "UPHENO:0069523", "UPHENO:0033604", "UPHENO:0076791", "UPHENO:0041525", "UPHENO:0086589", - "GO:0014020", - "UBERON:0004456", - "UPHENO:0052178", - "UPHENO:0082467", - "UBERON:0001463", - "UPHENO:0086023", - "UPHENO:0041226", + "UPHENO:0041591", + "UBERON:0002082", + "UPHENO:0084815", + "UBERON:0003947", + "CL:0000019", + "HP:0003026", + "NBO:0000416", + "HP:0001871", + "UPHENO:0063594", + "UPHENO:0001003", + "UPHENO:0002790", + "UPHENO:0075852", + "HP:0000080", + "UBERON:0001008", + "UBERON:0005177", + "UBERON:0003606", + "UPHENO:0002668", + "UPHENO:0087334", + "HP:0003022", + "UPHENO:0002579", + "UBERON:0001434", + "UPHENO:0087232", + "UPHENO:0003031", + "UPHENO:0076707", + "UPHENO:0086116", + "UPHENO:0004724", + "UBERON:0000122", + "UPHENO:0076739", + "UPHENO:0074229", + "UPHENO:0003026", + "UPHENO:0002685", + "UPHENO:0002832", + "HP:0012848", + "UPHENO:0041098", + "GO:0032502", + "UPHENO:0002988", + "UBERON:0007779", + "UPHENO:0031123", + "UPHENO:0088185", + "UBERON:0004766", + "HP:0007700", + "UBERON:0015061", + "UPHENO:0076776", + "UPHENO:0002552", + "UPHENO:0072359", + "UPHENO:0002833", + "UPHENO:0077391", + "UPHENO:0002568", + "BFO:0000004", + "HP:0030680", + "HP:0005561", + "HP:0100736", + "UPHENO:0087577", + "UBERON:0004054", + "UPHENO:0084834", + "UPHENO:0072255", + "UPHENO:0002448", + "UPHENO:0002548", + "UPHENO:0002864", + "UBERON:0004710", + "UPHENO:0002782", + "HP:0001373", + "HP:0002031", + "HP:0005773", + "UBERON:0001299", + "UBERON:0000025", + "HP:0025033", + "UBERON:5001463", + "UPHENO:0078159", + "UPHENO:0056333", + "UBERON:0003133", + "UBERON:0005281", + "HP:0000036", + "UPHENO:0053566", + "HP:0034915", + "UPHENO:0003070", + "UBERON:0000915", + "UPHENO:0002433", + "UPHENO:0002945", + "UPHENO:0085874", + "UPHENO:0053571", + "UBERON:0000072", + "UPHENO:0002731", "UBERON:0034925", "HP:0000598", + "HP:0002250", "UPHENO:0080103", - "GO:0043009", - "HP:0000119", - "UPHENO:0076799", - "UPHENO:0033626", - "UPHENO:0005016", - "UBERON:0007100", + "UBERON:0001062", + "UBERON:0010358", + "HP:0000083", + "UPHENO:0046455", + "UBERON:0010314", + "HP:0100691", + "HP:0000153", + "HP:0100491", + "HP:0012243", + "HP:0005607", + "HP:0011842", + "HP:0000953", + "UPHENO:0018390", + "UPHENO:0068941", + "UPHENO:0002969", + "UBERON:5106048", + "UBERON:5001466", + "UPHENO:0002269", + "UPHENO:0063722", + "UBERON:0001474", + "HP:0001872", + "UBERON:0002100", + "UPHENO:0011536", + "UPHENO:0033572", + "HP:0002246", + "UPHENO:0015324", + "UBERON:0004288", + "HP:0009815", + "PR:000050567", + "HP:0010461", + "UPHENO:0086621", "UPHENO:0075175", + "UBERON:0003978", + "HP:0000174", "UPHENO:0080300", - "UPHENO:0088047", - "RO:0002577", - "HP:0000951", - "UPHENO:0002903", - "UBERON:0012140", - "UBERON:0000376", - "HP:0002575", - "UBERON:0004921", - "UPHENO:0002378", - "UPHENO:0076765", - "HP:0002086", - "UBERON:0003920", - "UBERON:0010371", - "UBERON:0001801", - "HP:0000478", - "UPHENO:0041079", - "UBERON:0019231", - "HP:0031703", + "UPHENO:0076718", + "UBERON:0005178", + "UPHENO:0005651", + "UPHENO:0063596", + "UPHENO:3000000", "UBERON:0003134", "HP:0030962", "UPHENO:0041053", - "HP:0011314", - "UBERON:0001819", - "UBERON:0003657", - "HP:0000364", - "GO:0009790", - "UPHENO:0081574", - "UPHENO:0086159", - "UPHENO:0076730", + "UBERON:0005893", + "UPHENO:0003088", + "HP:0000271", + "UBERON:0000057", + "UPHENO:0005636", + "UPHENO:0008523", + "UPHENO:0050101", "UBERON:0015212", - "UPHENO:0087478", - "GO:0035148", - "HP:0000453", - "HP:0002143", - "UPHENO:0076743", - "UBERON:0001456", - "UPHENO:0076785", - "CL:0000039", - "UBERON:0013765", - "HP:0000483", - "UPHENO:0087816", - "UBERON:0009569", - "UBERON:0002398", + "UBERON:0034923", + "UPHENO:0002430", + "HP:0006496", + "UBERON:0002090", + "UPHENO:0080185", + "UPHENO:0033580", + "UBERON:0011779", + "UBERON:0002080", + "UPHENO:0078452", + "HP:0002795", + "UPHENO:0002308", + "UPHENO:0002910", + "UPHENO:0033560", + "UPHENO:0041667", + "UPHENO:0002708", + "HP:0006824", + "UBERON:0011584", + "UPHENO:0071326", + "UBERON:0004923", + "UPHENO:0002585", + "UPHENO:0002928", "HP:0011793", - "HP:0012718", - "HP:0033127", - "GO:0050877", - "HP:0007400", - "UBERON:0007196", - "UBERON:0000025", - "HP:0025033", - "UBERON:5001463", - "UPHENO:0078159", - "UBERON:0001558", - "GO:0048731", - "HP:0011603", - "CL:0000000", - "UBERON:0035553", - "HP:0000032", - "HP:0002664", - "HP:0031910", - "UBERON:0003103", - "UBERON:0001005", - "UBERON:5106048", - "UBERON:5001466", - "GO:0072175", - "HP:0002060", - "GO:0007283", - "UPHENO:0082449", - "UPHENO:0087802", + "UPHENO:0000983", + "UBERON:0003920", + "UBERON:0010371", + "UBERON:0001801", + "UPHENO:0002550", + "UBERON:0003460", + "UPHENO:0002536", + "HP:0012733", + "HP:0004378", + "UPHENO:0001002", + "UBERON:0001137", + "UPHENO:0012308", + "UPHENO:0087924", + "HP:0009602", + "HP:0012638", + "UPHENO:0002211", + "UPHENO:0049966", + "UPHENO:0088088", + "UPHENO:0002713", + "GO:0043009", + "HP:0000119", + "UPHENO:0076799", + "UPHENO:0033626", + "UPHENO:0005016", + "UPHENO:0011845", + "UPHENO:0002643", + "UBERON:0019221", + "HP:0100587", + "UPHENO:0004757", + "UPHENO:0031254", + "UBERON:0000004", + "UBERON:0010740", + "UPHENO:0002642", + "HP:0000505", + "UPHENO:0033584", + "UBERON:0006058", + "UBERON:0015203", + "UPHENO:0087022", + "UBERON:0001768", + "HP:0011821", + "HP:0012547", + "UPHENO:0031228", + "UPHENO:0014291", + "UPHENO:0075208", + "HP:0000811", + "HP:0004328", + "UBERON:0002410", + "UPHENO:0031226", "UBERON:0010708", "GO:0050890", "UBERON:0000073", @@ -6555,4761 +7969,5543 @@ def autocomplete_response(): "UPHENO:0080202", "UBERON:0000995", "UBERON:0010428", - "GO:0050882", - "UBERON:0013522", - "UPHENO:0077872", - "UBERON:0002104", - "UBERON:0010409", - "UPHENO:0041462", - "HP:0008055", - "GO:0009888", - "UPHENO:0003055", - "GO:0048598", - "GO:0008150", - "HP:0007565", - "HP:0000925", - "UPHENO:0075997", - "UPHENO:0087472", - "UPHENO:0021045", - "HP:0001000", - "UBERON:0012430", - "UPHENO:0035025", - "UPHENO:0080185", - "HP:0040004", - "UBERON:0003460", - "UPHENO:0002536", - "HP:0012733", - "UPHENO:0087924", - "UBERON:0001981", - "NCBITaxon:131567", - "UPHENO:0002910", - "UPHENO:0056072", - "HP:0001549", - "UBERON:0000160", - "UPHENO:0082761", - "CL:0000738", - "UBERON:0002116", - "UBERON:0001444", - "UBERON:0035651", - "UPHENO:0020809", - "UBERON:0002108", - "UBERON:0013768", - "UPHENO:0084771", - "UPHENO:0021038", - "UPHENO:0086612", - "UBERON:0001299", - "UPHENO:0002808", - "UPHENO:0087427", - "HP:0002244", - "UPHENO:0088337", - "UPHENO:0076728", - "HP:0011004", - "HP:0002245", - "HP:0040195", - "UBERON:0013702", - "HP:0002023", - "UPHENO:0087509", - "UBERON:0002355", - "HP:0006265", - "UBERON:0001245", - "UPHENO:0076760", - "UPHENO:0084448", - "HP:0008050", - "UPHENO:0086644", - "UPHENO:0076804", - "UPHENO:0046505", - "UPHENO:0074228", - "UPHENO:0021304", - "HP:0010293", - "UPHENO:0077889", - "UBERON:0000161", - "UPHENO:0086824", - "UPHENO:0054261", - "UPHENO:0054299", - "HP:0001507", - "UBERON:0010543", - "UPHENO:0049874", - "UPHENO:0033559", - "UPHENO:0082794", - "UPHENO:0041203", - "HP:0004325", - "HP:0040194", - "UPHENO:0031839", - "UBERON:0016526", - "UBERON:0001805", - "UPHENO:0010795", - "UPHENO:0002839", - "UPHENO:0086614", - "UBERON:0000915", - "HP:0034915", - "UPHENO:0003070", - "UPHENO:0050008", - "UBERON:0002090", - "HP:0006496", - "UBERON:0005623", - "HP:0000174", - "UBERON:0003978", - "UBERON:0000323", - "HP:0001159", - "UPHENO:0082900", - "UBERON:0000948", - "UBERON:0002084", - "UPHENO:0087612", - "UBERON:0005956", - "HP:0009815", - "UBERON:0004288", - "UPHENO:0015324", - "HP:0001770", - "UPHENO:0086143", - "HP:0000069", - "UPHENO:0087070", - "UBERON:0002097", - "UPHENO:0015319", - "UBERON:0000946", - "CL:0000988", - "UBERON:0001555", - "UPHENO:0015317", - "UBERON:0005725", - "UPHENO:0086858", - "UPHENO:0081436", - "UBERON:0002529", - "UBERON:0004381", - "UPHENO:0076810", - "UPHENO:0015327", - "UBERON:0019221", - "UBERON:0002389", - "HP:0001654", - "HP:0030669", - "UBERON:0000117", - "UBERON:0034921", + "HP:0008438", + "UPHENO:0076798", + "HP:0000315", + "UBERON:0010313", + "UBERON:0011215", + "HP:0006503", + "GO:0048856", + "UBERON:0006717", + "UPHENO:0031125", + "GO:0001838", + "UBERON:0000061", + "UPHENO:0076803", + "HP:0002863", + "UPHENO:0004764", + "UBERON:0008114", + "UBERON:0007828", + "HP:0011218", + "UPHENO:0002219", + "HP:0000539", + "UPHENO:0075804", + "UPHENO:0072194", + "UPHENO:0079876", + "UPHENO:0014865", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0071315", + "UPHENO:0002650", + "UPHENO:0076785", + "UBERON:0001456", + "HP:0012718", + "HP:0033127", + "UPHENO:0002386", + "UPHENO:0050234", + "UPHENO:0002554", + "UBERON:0011138", + "HP:0000079", + "UBERON:0002075", + "UBERON:0012150", + "GO:0050882", + "UBERON:0013522", + "UBERON:0002104", + "UBERON:0010409", + "HP:0008055", + "UPHENO:0056250", + "UPHENO:0087802", + "UBERON:0012430", + "HP:0001000", + "UPHENO:0002909", + "UPHENO:0002526", + "UPHENO:0078267", + "UPHENO:0003055", + "GO:0048598", + "GO:0008150", + "HP:0007565", + "HP:0000925", + "UPHENO:0075997", + "UPHENO:0085876", + "UBERON:0001785", + "UPHENO:0004788", + "GO:0072175", + "HP:0002060", + "UPHENO:0087472", + "UPHENO:0002553", + "UPHENO:0076765", + "HP:0002086", + "UPHENO:0056251", + "UPHENO:0075195", + "UBERON:0005899", + "HP:0012373", + "UBERON:0002091", + "GO:0035239", + "HP:0000813", + "HP:0100542", + "UPHENO:0003065", + "UBERON:0001017", + "UPHENO:0002385", + "UBERON:0001444", + "UBERON:0035651", + "UPHENO:0002531", + "UPHENO:0011557", + "UPHENO:0056242", + "UBERON:0004249", + "GO:0035295", + "HP:0000364", + "GO:0009790", + "GO:0048729", + "UPHENO:0035151", + "GO:0009888", + "UPHENO:0002765", + "UBERON:0001558", + "GO:0048731", + "UBERON:0016491", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0010741", + "UPHENO:0071308", + "UPHENO:0002523", + "UPHENO:0041037", + "HP:0009121", + "UBERON:0011164", + "UPHENO:0075655", + "GO:0001841", + "UPHENO:0001355", + "UBERON:0002349", + "UPHENO:0080662", + "GO:0014020", + "HP:0001249", + "UBERON:0000479", + "UPHENO:0041395", + "UBERON:0007811", + "UBERON:0000922", + "HP:0031826", + "UPHENO:0081603", + "UBERON:5006052", + "UBERON:0000014", + "UPHENO:0076761", "HP:0032039", - "UBERON:0010912", - "UPHENO:0086144", + "UPHENO:0086644", + "HP:0008050", + "UPHENO:0075878", + "UPHENO:0003085", + "UPHENO:0033579", "HP:0000492", "UPHENO:0080382", "HP:0200006", - "UBERON:0001474", - "UPHENO:0063722", - "UPHENO:0021791", - "UBERON:0000179", - "UPHENO:0003085", - "GO:0030154", - "UBERON:0004573", - "UBERON:0015052", - "UBERON:0000014", - "UPHENO:0086680", - "UPHENO:0076761", - "UBERON:0000965", + "UBERON:0001819", + "UBERON:0005726", + "UBERON:0010913", + "UPHENO:0086699", + "UBERON:0003657", + "HP:0030669", + "UPHENO:0087578", + "HP:0000518", + "HP:0001924", + "UPHENO:0018424", "UBERON:0005389", + "UPHENO:0004765", + "UPHENO:0077404", + "HP:0200007", + "HP:0009821", + "UPHENO:0004881", "UBERON:0000477", "HP:0000517", - "UPHENO:0086633", "UBERON:0004119", + "UPHENO:0086633", "OBI:0100026", "UPHENO:0001072", "UPHENO:0088132", - "HP:0000518", - "HP:0001924", - "UPHENO:0018424", - "UPHENO:0087578", + "UBERON:0000965", "HP:0000508", "GO:0048468", "UPHENO:0087214", + "UPHENO:0063558", "GO:0060562", "UPHENO:0041644", - "UPHENO:0041667", - "UPHENO:0021517", - "UBERON:0010913", - "UPHENO:0086699", - "UBERON:0005726", - "UPHENO:0086628", - "UPHENO:0063621", - "HP:0010978", - "UPHENO:0086100", - "UBERON:0010323", - "UPHENO:0087814", - "UBERON:0007832", - "UPHENO:0085330", - "UBERON:0003129", - "UPHENO:0002642", - "UBERON:0010740", - "UBERON:0000004", - "UPHENO:0003048", - "UBERON:0002268", - "HP:0000415", - "HP:0100547", - "HP:0000144", - "UPHENO:0063595", - "HP:0005105", - "HP:0000929", - "HP:0011994", - "UPHENO:0002907", - "UPHENO:0084447", - "HP:0100790", - "HP:0010935", - "HP:0000080", - "UPHENO:0075852", - "UBERON:0001008", - "UBERON:5101466", - "HP:0032076", - "UBERON:0012241", - "UPHENO:0002790", - "HP:0000079", - "UBERON:8450002", - "HP:0010936", - "UBERON:0001556", - "UBERON:0000947", - "HP:0001574", - "HP:0200005", - "UPHENO:0065599", - "HP:0010438", - "HP:0000118", - "UPHENO:0005995", - "UPHENO:0020068", - "UBERON:0007830", - "HP:0007364", - "UPHENO:0080079", + "UPHENO:0002816", + 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+ "UPHENO:0001001", + "UPHENO:0012440", + "UPHENO:0002987", + "UPHENO:0002866", + "UPHENO:0069030", + "UPHENO:0046483", + "UBERON:0001005", + "UPHENO:0046472", + "UBERON:0003126", + "UPHENO:0002967", + "UPHENO:0068838", "UBERON:0012180", + "UPHENO:0063588", "UPHENO:0068971", - "UPHENO:0053580", - "HP:0040019", - "UPHENO:0069293", - "HP:0200007", - "HP:0009821", - "UBERON:0001464", - "UPHENO:0087602", - "UBERON:0001271", - "UBERON:0010425", - "UBERON:0007823", - "UPHENO:0087974", - "UBERON:0004770", + "UPHENO:0046397", + "UPHENO:0012312", + "UPHENO:0002902", + "UPHENO:0076754", + "UPHENO:0069194", + "UPHENO:0003015", + "UBERON:0003828", "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0005913", - "UBERON:0000982", - "HP:0002644", + "UBERON:0003463", + "UPHENO:0066905", + "UBERON:0003840", "HP:0000504", "UPHENO:0002813", + "UPHENO:0046465", "UPHENO:0087980", - "UBERON:0001457", - "UBERON:0008907", - "UPHENO:0079871", - "UBERON:0003463", - "UPHENO:0060026", + "UBERON:0011595", + "UPHENO:0081598", + "UPHENO:0081608", + "UPHENO:0003021", "HP:0001367", - "UBERON:0003828", - "UPHENO:0075945", - "UPHENO:0001001", - "UPHENO:0087892", - "UBERON:0008114", - "UBERON:0007828", - "UBERON:0003840", - "HP:0000271", - "UBERON:0005893", - "UBERON:5002389", - "UPHENO:0087558", - "UBERON:0001712", - "UBERON:0001950", - "UBERON:0003826", - "HP:0012331", + "UBERON:0007832", ], "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation in independent continuant", "decreased biological_process in multicellular organism", - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "decreased qualitatively biological_process in independent continuant", "Hypopigmentation of the skin", + "Abnormal platelet morphology", "Thrombocytopenia", "Abnormal platelet count", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of platelet", - "abnormal platelet", + "decreased number of platelet", + "number of platelet phenotype", + "serotonin secreting cell", "anucleate cell", - "secretory cell", - "abnormal blood cell", - "obsolete cell", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "Abnormal cellular immune system morphology", + "decreased number of hematopoietic cell", + "leukocyte", + "decreased number of anatomical structure in the multicellular organism", + "decreased number of leukocyte in the blood", + "decreased number of anatomical structure", + "Leukopenia", + "nucleate cell", + "motile cell", + "decreased number of anatomical entity in the blood", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "Abnormality of body height", + "decreased height of the multicellular organism", "decreased size of the multicellular organism", - "serotonin secreting cell", - "abnormal size of multicellular organism", + "size of multicellular organism phenotype", + "cellular developmental process", + "decreased number of anatomical entity in the multicellular organism", + "blood cell", + "Pyridoxine-responsive sideroblastic anemia", + "Abnormal bone marrow cell morphology", + "Sideroblastic anemia", + "homeostatic process", + "immune system process", + "cellular process", + "erythrocyte differentiation", + "Abnormal erythroid lineage cell morphology", + "cell development", "Abnormal myeloid cell morphology", "Anemia of inadequate production", - "erythrocyte differentiation", - "Sideroblastic anemia", - "myeloid cell differentiation", "hemopoiesis", "erythroid lineage cell", - "abnormal erythroid lineage cell morphology", - "immune system process", - "cellular process", - "homeostatic process", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", - "erythrocyte", - "myeloid cell", - "blood cell", - "erythrocyte homeostasis", "homeostasis of number of cells", - "cellular developmental process", - "Abnormal morphology of the radius", - "abnormal radius bone morphology", + "erythrocyte homeostasis", + "bone cell", "aplasia or hypoplasia of radius bone", - "radius bone", + "Abnormal morphology of the radius", + "radius bone phenotype", + "radius bone morphology phenotype", "Neurodevelopmental delay", + "shape palpebral fissure", + "Abnormal shape of the palpebral fissure", + "decreased size of the anatomical conduit", + "decreased size of the orifice", + "decreased length of ectoderm-derived structure", "decreased length of palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal size of palpebral fissure", - "abnormality of immune system physiology", - "Abnormality of immune system physiology", - "abnormally localised testis", - "abnormally localised anatomical entity in independent continuant", + "decreased size of the palpebral fissure", + "decreased length of orifice", + "decreased length of anatomical conduit", + "immune system physiology phenotype", + "Unusual infection", + "localised male reproductive organ", + "localised organ", "Cryptorchidism", + "localised anatomical structure", "ureter", + "excretory tube phenotype", "Abnormal ureter morphology", "Abnormality of the ureter", - "abnormal ureter morphology", - "Abnormal renal physiology", "Hypopigmented skin patches", "Abnormality of the urinary system physiology", - "abnormally decreased functionality of the gonad", + "cavitated compound organ physiology phenotype", + "abdominal segment element physiology phenotype", + "kidney physiology phenotype", + "Abnormal renal physiology", + "gonad physiology phenotype", + "decreased functionality of the gonad", + "decreased functionality of the reproductive structure", "Cleft palate", + "incomplete closing of the structure with developmental contribution from neural crest", "Craniofacial cleft", - "increased height of anatomical entity in independent continuant", - "increased height of the anatomical entity", + "incomplete closing of the multi-tissue structure", + "increased size of the structure with developmental contribution from neural crest", + "anatomical entity height phenotype", + "increased height of the anatomical structure", "High palate", - "increased size of the head", - "Increased head circumference", - "skin of head", + "increased height of the material anatomical entity", + "increased height of the roof of mouth", + "increased height of the anatomical entity", + "immune system morphology phenotype", + "increased height of the multicellular anatomical structure", + "increased height of the ectoderm-derived structure", + "increased size of the neural crest-derived structure", + "increased height of the multi-tissue structure", + "number of leukocyte phenotype", + "increased length of the ectoderm-derived structure", + "increased length of the organ part", "increased length of the epicanthal fold", "Epicanthus", - "head or neck skin", - "abnormal skin of face morphology", "upper eyelid", + "skin of head morphology phenotype", + "head or neck skin", "skin of face", "zone of skin", - "abnormal asymmetry of anatomical entity", - "abnormal shape of forehead", + "increased size of the zone of organ", + "skin of head", + "asymmetry of anatomical entity phenotype", + "Abnormal leukocyte count", + "Facial asymmetry", + "asymmetry of face phenotype", + "Sloping forehead", + "forehead morphology phenotype", "sloped anatomical entity", - "mandible hypoplasia", - "bone element hypoplasia in face", - "decreased size of the mandible", - "bone of lower jaw", "lower jaw region", - "facial skeleton", - "facial bone", + "dermal bone phenotype", + "increased height of the structure with developmental contribution from neural crest", + "intramembranous bone phenotype", + "bone element hypoplasia in face", + "secretory cell", + "bone of lower jaw phenotype", + "mandible morphology phenotype", "mandible", - "Abnormal mandible morphology", + "dentary phenotype", "facial bone hypoplasia", + "bone of lower jaw", "anatomical entity hypoplasia in face", - "abnormal mandible morphology", - "Hypoplastic facial bones", - "abnormal facial skeleton morphology", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Hearing abnormality", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "mandible hypoplasia", + "sensory perception of sound", "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "abnormal sensory perception of sound", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", + "Hearing abnormality", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased system process", + "Hearing impairment", + "nose phenotype", + "naris", + "olfactory organ", + "compound organ physiology phenotype", + "posterior nasal aperture morphology phenotype", + "naris atresia", + "posterior nasal aperture", "Abnormal conjugate eye movement", "Strabismus", - "abnormal sensory perception", + "visual perception", "sensory perception of light stimulus", + "decreased qualitatively system process", "decreased qualitatively visual perception", - "visual perception", - "abnormal sensory perception of light stimulus", - "abnormally protruding eyeball of camera-type eye", + "sensory perception phenotype", + "decreased qualitatively nervous system process", "Abnormality of globe size", - "cell development", - "abnormal size of eyeball of camera-type eye", - "cranial nerve related reflex", - "Abnormal vestibular function", - "Abnormality of eye movement", - "abnormality of ear physiology", + "sensory perception of light stimulus phenotype", + "size of eyeball of camera-type eye phenotype", + "decreased size of the ectoderm-derived structure", + "internal ear physiology phenotype", "eye movement", - "abnormal eye movement", - "abnormal physiologic nystagmus", - "abnormal vestibulo-ocular reflex", + "vestibulo-ocular reflex phenotype", "Abnormal vestibulo-ocular reflex", - "internal female genitalia", - "abnormal internal female genitalia morphology", + "Abnormality of eye movement", + "multi organ part structure physiology phenotype", + "Abnormal vestibular function", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", "female organism", - "abnormal uterus", - "abnormal female reproductive system", - "bicornuate anatomical entity", - "Abnormality of the female genitalia", - "Abnormality of the uterus", + "internal female genitalia morphology phenotype", + "decreased functionality of the organ", + "oviduct", "uterus", + "bicornuate anatomical entity", "shape uterus", - "oviduct", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", - "abnormal anatomical entity morphology in the skeleton of manus", - "manual digit 1", + "female reproductive organ morphology phenotype", + "Abnormality of the uterus", + "subdivision of oviduct phenotype", + "internal female genitalia", "Abnormal finger phalanx morphology", - "manual digit 1 digitopodial skeleton", - "abnormal manual digit 1 morphology", "Triphalangeal thumb", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", - "manus bone", - "excretory tube", - "manual digit 1 phalanx endochondral element", - "abnormal incomplete closing of the secondary palate", - "phalanx of manus", - "abnormal female reproductive system morphology", - "digit 1 digitopodial skeleton", - "skeleton of manual acropodium", - "skeleton of manual digitopodium", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", - "body part movement", - "neuromuscular process", - "voluntary musculoskeletal movement", - "kinesthetic behavior", - "multicellular organismal movement", - "Abnormality of movement", - "abnormal voluntary musculoskeletal movement", - "Recurrent urinary tract infections", - "involuntary movement behavior", - "Bicornuate uterus", - "abnormal behavior", - "Hyperreflexia", - "increased qualitatively response to stimulus", - "reflex", - "abnormal response to external stimulus", - "decreased embryo development", - "abnormal embryo development", - "herniated abdominal wall", - "Abnormality of connective tissue", - "Abnormality of the abdominal wall", - "Hernia", - "herniated anatomical entity", - "Hernia of the abdominal wall", - "Abnormal umbilicus morphology", - "umbilicus", - "connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", - "abnormal cardiac atrium morphology", - "interatrial septum", - "abnormal interatrial septum morphology", - "abnormal cardiac atrium morphology in the independent continuant", - "Abnormal atrial septum morphology", - "abnormally increased volume of anatomical entity", - "Abnormal ventricular septum morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "hypertrophic cardiac ventricle", - "cardiac septum", - "metabolic process", - "Abnormal cardiac septum morphology", - "increased size of the heart right ventricle", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "abnormal pulmonary valve morphology", - "interventricular septum", - "abnormal cardiac septum morphology", - "Abnormal pulmonary valve physiology", - "abnormality of cardiovascular system physiology", - "skin of eyelid", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "hypertrophic heart right ventricle", - "heart layer", - "Abnormal myocardium morphology", - "layer of muscle tissue", - "abnormal myocardium morphology", - "abnormal abdominal wall", - "embryonic cardiovascular system", - "heart vasculature", - "response to stimulus", - "ductus arteriosus", - "abnormal number of anatomical enitites of type myeloid cell", - "thoracic segment blood vessel", - "coronary vessel", - "abnormal coronary vessel morphology", - "aplasia or hypoplasia of mandible", - "trunk blood vessel", - "abnormal incomplete closing of the ductus arteriosus", - "vasculature of organ", - "abnormal female reproductive organ morphology", - "abnormally decreased functionality of the anatomical entity", - "vasculature of trunk", - "heart blood vessel", - "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", - "aorta", - "bone of jaw", - "aortic system", - "great vessel of heart", - "Abnormal aortic morphology", - "shape longitudinal arch of pes", - "flattened anatomical entity", - "longitudinal arch of pes", - "flattened anatomical entity in independent continuant", - "Pes planus", - "flat anatomical entity", - "Toe syndactyly", - "abnormally fused anatomical entity and pedal digit", - "abnormal shape of frontal cortex", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal head bone morphology", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", - "Puberty and gonadal disorders", - "central nervous system cell part cluster", - "lobe of cerebral hemisphere", - "cerebral hemisphere", - "manual digit 1 plus metapodial segment", - "abnormal cerebral hemisphere morphology", - "vault of skull", - "female reproductive system", - "dermal skeleton", - "primary subdivision of skull", - "primary subdivision of cranial skeletal system", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", - "Hearing impairment", - "abnormal neurocranium morphology", - "gray matter", - "dermal bone", - "aplasia or hypoplasia of skull", - "frontal lobe", - "pallium", - "abnormal vault of skull", - "Abnormality of the forehead", - "forehead", - "abnormal frontal cortex morphology", - "tetrapod frontal bone", - "neurocranium", - "abnormal great vessel of heart morphology", - "frontal cortex", - "abnormal forehead", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", - "abnormal anus", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "skeleton of lower jaw", - "abnormal small intestine", - "abnormal nose morphology", - "abnormal eyelid morphology", - "manus", - "dermatocranium", - "Abnormal axial skeleton morphology", - "neural tube", - "presumptive structure", - "vertebra", - "abnormal ileum morphology", - "neural tube closure", - "cranium", - "trunk bone", - "Aplasia/hypoplasia involving bones of the extremities", - "entire sense organ system", - "abnormal response to stimulus", - "embryo development ending in birth or egg hatching", - "vertebral column", - "Abnormality of the vasculature", - "Vertebral arch anomaly", - "face", - "aplasia or hypoplasia of manual digit", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "abnormal neural tube morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal heart valve morphology", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", - "abnormal vertebral column", - "abnormal spinal cord morphology", - "Aganglionic megacolon", - "tube formation", - "anatomical structure formation involved in morphogenesis", - "abnormal aortic valve morphology", - "Abnormality of the inner ear", - "abnormal vertebral column morphology", - "abnormal common carotid artery plus branches morphology", - "Abnormal anus morphology", - "abnormal anatomical entity mass density", - "abnormal systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "epithelium development", - "abnormal head", - "artery", - "jaw region", - "arterial system", - "Decreased bone element mass density", - "Abnormal cranial nerve physiology", - "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "Clubbing", - "Spinal dysraphism", - "decreased qualitatively pigmentation", - "decreased multicellular organism mass", - "innominate bone", - "Frontal bossing", - "nerve", - "gray matter of forebrain", - "heart plus pericardium", - "Abnormality of the orbital region", - "roof of mouth", - "Pulmonic stenosis", - "Abnormal peripheral nervous system morphology", - "Atypical behavior", - "Abnormal upper limb bone morphology", - "chemosensory system", - "abnormally decreased number of anatomical entity", - "paralysed cranial nerve", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "neural tube formation", - "postcranial axial skeletal system", - "Clubbing of toes", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "skeletal system", - "curved anatomical entity in independent continuant", - "hindlimb skeleton", - "endochondral bone", - "subdivision of skeleton", - "appendage girdle complex", - "subdivision of head", - "ulna endochondral element", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "Abnormal morphology of ulna", - "pectoral appendage", - "deviation of manual digit 5 towards the middle", - "abnormal opening of the anatomical entity", - "bone element", - "Abnormality of limbs", - "abnormal number of anatomical enitites of type platelet", - "abnormal forelimb zeugopod morphology", - "Abnormal forebrain morphology", - "paired limb/fin", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "septum", - "Abnormality of limb bone morphology", - "developing anatomical structure", - "skeleton of limb", - "forelimb zeugopod skeleton", - "prepuce", - "subdivision of oviduct", - "limb bone", - "pectoral appendage skeleton", - "Abnormal forearm bone morphology", - "morphogenesis of an epithelium", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "abnormal digestive system morphology", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "spinal cord", - "appendicular skeleton", - "zeugopod", - "skeletal element", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Abnormal long bone morphology", - "absent sperm in the semen", - "vasculature", - "Spina bifida", - "circulatory system", - "embryonic morphogenesis", - "abnormal liver", - "Abnormal blood vessel morphology", - "decreased pigmentation in independent continuant", - "tissue development", - "venous blood vessel", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal blood vessel morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal embryo morphology", - "Abnormal venous morphology", - "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "cortex of cerebral lobe", - "abnormal vascular system morphology", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", - "cardiovascular system", - "blood vasculature", - "tube development", - "acropodium region", - "blood vessel", - "germ cell", - "outflow tract", - "abnormal vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", - "penis", - "Orofacial cleft", - "digestive system element", - "intromittent organ", - "vein", - "multi cell part structure", - "abnormal prepuce of penis morphology", - "myocardium", - "external ear", - "abnormal telencephalon morphology", - "Abnormal jaw morphology", - "Meckel diverticulum", - "irregular bone", - "organism", - "secondary palate", - "autopod bone", - "Neurodevelopmental abnormality", - "manual digit phalanx endochondral element", + "manual digitopodium bone", + "digit 1", + "manual digit 1 morphology phenotype", + "decreased sensory perception", + "manual digit bone", + "number of anatomical entities of type anatomical entity in blood phenotype", + "manual digit 1", + "ureter morphology phenotype", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", "Abnormality of the immune system", - "abnormal skin of head morphology", - "abnormal neural tube closure", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "nervous system process", - "skeleton of digitopodium", - "Abnormal preputium morphology", - "forelimb bone", - "Abnormal uvula morphology", - "abnormal central nervous system morphology", - "ventricular system of central nervous system", - "Abnormal shape of the frontal region", - "central nervous system", - "abnormal arm", - "Abnormality of limb bone", - "autopod endochondral element", - "cognition", - "ventricular system of brain", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", - "decreased length of forelimb zeugopod bone", - "abnormally increased number of anatomical entity", - "Facial asymmetry", - "Abnormal leukocyte count", + "manual digit phalanx endochondral element", + "facial bone phenotype", + "manual digit 1 digitopodial skeleton", + "manus bone", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "manual digit 1 plus metapodial segment", + "neuromuscular process", + "kinesthetic behavior", + "voluntary musculoskeletal movement", + "voluntary movement behavior phenotype", + "system process phenotype", + "reflex phenotype", + "increased response to stimulus", + "Recurrent urinary tract infections", + "involuntary movement behavior", + "response to external stimulus phenotype", + "reflex", + "increased qualitatively response to stimulus", + "Global developmental delay", + "reflexive behavior", + "behavior phenotype", + "Hyperreflexia", + "multicellular organismal movement phenotype", + "decreased embryo development", + "decreased qualitatively multicellular organismal process", + "anatomical structure development phenotype", + "multicellular organismal process phenotype", + "Growth delay", + "decreased qualitatively anatomical structure development", + "decreased qualitatively embryo development", + "delayed growth", + "embryo development rate phenotype", + "embryo development phenotype", + "Abnormality of vision", + "anatomical wall phenotype", + "Hernia", + "Abnormality of connective tissue", + "digit 1 digitopodial skeleton", + "tissue phenotype", + "herniated abdominal wall", + "connective tissue", + "erythrocyte morphology phenotype", + "umbilicus", + "abdominal wall phenotype", + "herniated anatomical entity", + "facial skeleton", + "abdominal viscera", + "incomplete closing of the organ part", + "embryo phenotype", + "organism substance phenotype", + "Renal insufficiency", + "late embryo", + "Abnormality of prenatal development or birth", + "uterus phenotype", + "Oligohydramnios", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "embryonic development/birth phenotype", + "cardiac atrium morphology phenotype", + "metabolic process", + "Abnormal cardiac septum morphology", + "interatrial septum", + "Abnormal atrial septum morphology", + "cardiac septum", + "increased size of the cardiac ventricle", + "incomplete closing of the interventricular septum", + "Abnormality of thumb phalanx", + "increased size of the mesoderm-derived structure", + "cardiac septum morphology phenotype", + "right cardiac chamber phenotype", + "cardiac septum phenotype", + "increased size of the lateral structure", + "size of cardiac ventricle phenotype", + "interventricular septum morphology phenotype", + "heart right ventricle morphology phenotype", + "cardiac ventricle phenotype", + "septum phenotype", + "incomplete closing of the cardiac septum", + "cardiac chamber morphology in the heart phenotype", + "hypertrophic cardiac ventricle", + "cardiac chamber phenotype", + "septum", + "increased size of the cardiac chamber", + "incomplete closing of the septum", + "Intrauterine growth retardation", + "decreased functionality of the multicellular anatomical structure", + "mesoderm-derived structure physiology phenotype", "anatomical entity dysfunction in independent continuant", - "abnormal brain morphology", - "abnormal heart layer morphology", - "Abnormal frontal bone morphology", - "Abnormality of lower limb joint", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "cerebrospinal fluid", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", - "Hydrocephalus", - "Neural tube defect", - "organ system subdivision", - "abnormal nervous system morphology", - "forelimb zeugopod bone", - "Abnormal toe phalanx morphology", - "arch of centrum of vertebra", - "abnormality of internal male genitalia physiology", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal nervous system", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "Abnormal nervous system morphology", - "sense organ", - "material entity", - "increased reflex", - "long bone", - "internal male genitalia", - "curved anatomical entity", - "digestive system", - "decreased length of long bone", - "abnormal anatomical entity morphology in the brain", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "anatomical line between pupils", - "abnormal neocortex morphology", - "decreased biological_process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal heart morphology", - "appendage girdle region", - "dorsum", - "cranial nerve", - "testis", - "anatomical system", - "upper digestive tract", - "Small intestinal stenosis", - "male gamete generation", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "Abnormality of blood and blood-forming tissues", - "abnormality of multicellular organism height", - "abnormal limb morphology", - "upper urinary tract", - "right cardiac chamber", - "manual digitopodium region", - "abnormal enteric nervous system morphology", - "Abnormality of male external genitalia", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal voluntary movement behavior", - "tissue", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "abnormal amniotic fluid", - "system process", - "male gamete", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "embryo", - "Absent testis", - "abnormal limb bone", - "anatomical structure morphogenesis", - "Aplasia/Hypoplasia affecting the uvea", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "vessel", - "lateral structure", - "abnormal blood cell morphology", - "abnormal cell", - "male reproductive organ", - "disconnected anatomical group", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "Anal atresia", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "anterior region of body", - "Abnormality of the upper limb", - "entity", - "Decreased anatomical entity mass", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "All", - "Abnormal bone structure", - "system development", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "manual digit", - "abnormal reproductive process", - "abnormal shape of continuant", - "pulmonary valve", - "cellular organisms", - "vertebral element", - "viscus", - "bone of free limb or fin", - "abnormal pedal digit morphology", - "abnormal ear", - "Abnormal external genitalia", - "material anatomical entity", - "abnormal internal naris", - "Cranial nerve paralysis", - "developmental process", - "abnormal ureter", - "absent anatomical entity in the independent continuant", - "manual digit 1 or 5", - "abdominal segment bone", - "gonad", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "ganglion", - "sensory system", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "absent sperm in the independent continuant", - "pelvic region element", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "abnormal internal genitalia", - "ocular surface region", - "internal genitalia", - "limb", - "respiratory system", - "hip joint", - "cell", - "abnormal interventricular septum morphology", - "Abnormality of the mouth", - "abnormal ductus arteriosus morphology", - "Finger syndactyly", - "abnormal peripheral nervous system morphology", - "bodily fluid", - "multi-tissue structure", - "abnormal ear morphology", - "abnormal number of anatomical enitites of type sperm", - "hepatobiliary system", - "subdivision of skeletal system", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "dorsal region element", - "Abnormality of the cardiovascular system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "exocrine system", - "Abnormality of the genitourinary system", - "shape digit", - "head bone", - "absent germ cell", - "Abnormal heart valve physiology", - "changed biological_process rate", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal systemic arterial morphology", - "spermatogenesis", - "abnormal shape of palpebral fissure", - "delayed biological_process", - "systemic artery", - "developmental process involved in reproduction", - "Abnormality of the nose", - "organism substance", + "decreased nervous system process", + "decreased functionality of the organ component layer", + "Abnormality of the abdominal wall", + "organ component layer physiology phenotype", + "heart layer phenotype", + "layer of muscle tissue phenotype", + "Abnormal choanae morphology", + "layer of muscle tissue", + "decreased functionality of the material anatomical entity", "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "neural tube development", - "external genitalia", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "hematopoietic system", - "multicellular anatomical structure", - "abnormal leukocyte morphology", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormal heart morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "Abnormal spinal cord morphology", - "neuron projection bundle", - "Abnormal esophagus morphology", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "abnormal bone element mass density", - "main body axis", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal cardiac atrium morphology in the heart", - "morphogenesis of embryonic epithelium", - "haploid cell", - "conceptus", - "abnormal vertebra morphology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "epithelial tube morphogenesis", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "abnormal male reproductive organ morphology", - "occurrent", - "pedal digit phalanx endochondral element", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormal small intestine morphology", - "Azoospermia", + "Abnormal myocardium morphology", + "decreased multicellular organism development", + "heart layer", + "decreased functionality of the anatomical entity", + "decreased multicellular organismal process", + "incomplete closing of the trunk blood vessel", + "material anatomical entity morphology in the heart phenotype", + "systemic artery phenotype", + "blood vessel phenotype", + "nervous system process phenotype", + "incomplete closing of the coronary vessel", + "coronary vessel morphology phenotype", + "mesoderm-derived structure morphology in the heart phenotype", + "incomplete closing of the heart blood vessel", + "incomplete closing of the systemic artery", + "incomplete closing of the ductus arteriosus", + "embryonic cardiovascular system", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "trunk blood vessel phenotype", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "vessel phenotype", + "arterial blood vessel phenotype", + "heart vasculature", + "sensory perception of sound phenotype", + "response to stimulus", + "ductus arteriosus", + "incomplete closing of the artery", + "incomplete closing of the thoracic segment blood vessel", + "thoracic segment blood vessel", + "myeloid cell", + "incomplete closing of the blood vessel", + "anatomical entity morphology in the heart phenotype", + "Patent ductus arteriosus", + "anatomical structure morphology in the heart phenotype", + "hematopoietic cell", + "semi-lunar valve", + "neuromuscular process phenotype", + "heart", + "aortic valve morphology phenotype", + "platelet phenotype", + "Abnormal heart morphology", + "Abnormal heart valve morphology", + "semi-lunar valve morphology phenotype", + "heart morphology phenotype", + "internal ear", + "heart left ventricle", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "cardiac valve", + "bone of jaw", + "aortic system", + "aortic valve", + "thoracic cavity blood vessel", + "great vessel of heart", + "Abnormal aortic morphology", + "aorta morphology phenotype", + "decreased functionality of the anatomical structure", + "great vessel of heart morphology phenotype", + "aorta", + "decreased number of material anatomical entity in the multicellular organism", + "longitudinal arch of pes", + "Pes planus", + "flat anatomical entity", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "trunk region element physiology phenotype", + "Toe syndactyly", + "fused anatomical entity and pedal digit", + "incomplete closing of the anatomical wall", + "pedal digit phenotype", + "anatomical entity morphology in the pelvic complex phenotype", "platelet", "Growth abnormality", - "hip", - "primary neural tube formation", - "renal pelvis/ureter", - "male urethral meatus", - "reproductive organ", - "anus atresia", - "abnormal skull morphology", - "Short long bone", - "Ventricular septal defect", - "small intestine", - "subdivision of organism along main body axis", + "multicellular organism mass phenotype", + "growth", + "radius bone", + "growth phenotype", + "Weight loss", + "obsolete cell", + "material anatomical entity mass phenotype", + "Decreased body weight", + "Abnormality of body weight", + "incomplete closing of the arterial blood vessel", + "decreased material anatomical entity mass", + "anatomical structure mass phenotype", + "decreased multicellular anatomical structure mass", + "Abnormal calvaria morphology", + "frontal cortex morphology phenotype", + "neurocranium morphology phenotype", + "olfactory system morphology phenotype", + "cranium morphology phenotype", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "lobe of cerebral hemisphere", + "shape of frontal cortex phenotype", + "primary subdivision of skull", + "cranium", + "frontal cortex", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", "prominent forehead", - "abnormal incomplete closing of the arch of centrum of vertebra", - "segment of manus", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "aplasia or hypoplasia of anatomical entity", - "limb long bone", - "compound organ", - "eye", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "external male genitalia", - "Hypogonadism", - "urethral opening", - "arm bone", - "Abnormal reflex", - "hindlimb joint", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Short palpebral fissure", - "Abnormal skeletal morphology", - "increased pigmentation", - "skeleton of pectoral complex", - "specifically dependent continuant", - "abnormal autonomic nervous system morphology", + "brain gray matter phenotype", + "forehead", + "tetrapod frontal bone", + "neurocranium bone", + "gray matter of forebrain phenotype", + "decreased number of cell", + "gray matter phenotype", + "cortex of cerebral lobe", + "primary subdivision of cranial skeletal system", + "vault of skull", + "cardiovascular system physiology phenotype", + "prominent anatomical entity", + "neurocranium", + "bone of craniocervical region", + "cranial bone", + "intramembranous bone", + "membrane bone", + "heart plus pericardium", + "gray matter of forebrain", + "anus", + "closing of the multicellular anatomical structure", + "material anatomical entity atresia", + "jaw skeleton morphology phenotype", + "multicellular anatomical structure atresia", + "closing of the anatomical structure", + "anus morphology phenotype", + "bone marrow", + "anus atresia", + "anus phenotype", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "closing of the ectoderm-derived structure", + "Abnormal ileum morphology", + "parasympathetic nervous system", + "large intestine morphology phenotype", + "autonomic nervous system", + "Abnormal peripheral nervous system ganglion morphology", + "Abnormal autonomic nervous system morphology", "ganglion of peripheral nervous system", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", + "Abnormal large intestine morphology", + "interatrial septum morphology phenotype", + "Abnormality of the autonomic nervous system", + "haemolymphatic fluid", + "ganglion morphology phenotype", + "enteric nervous system", + "Aganglionic megacolon", + "enteric ganglion", + "Megacolon", + "lower digestive tract", + "Abnormal ganglion morphology", + "stylopod", + "late embryo phenotype", + "valve", + "Abnormal femur morphology", + "decreased qualitatively pigmentation", + "increased length of the head or neck skin", + "innominate bone", + "hip joint morphology phenotype", + "Aplasia/Hypoplasia of the radius", + "protruding anatomical entity", + "Abnormal pelvic girdle bone morphology", + "pelvic region of trunk", + "hip", + "appendage girdle region", + "girdle skeleton", + "trunk bone", + "Lower extremity joint dislocation", + "Abnormal hip bone morphology", + "skeletal joint morphology phenotype", + "heart layer morphology phenotype", + "hip dislocation", + "skeletal joint phenotype", + "synovial joint morphology phenotype", + "girdle bone/zone", + "decreased number of material anatomical entity", + "articular system", + "Hip dislocation", + "outflow part of left ventricle morphology phenotype", + "vertebral column", + "tube closure phenotype", + "ileum", + "embryonic tissue", + "forehead phenotype", + "neural tube closure", + "dermatocranium", + "Abnormal axial skeleton morphology", + "Vertebral arch anomaly", + "increased number of brain ventricle in the cerebrospinal fluid", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "incomplete closing of the material anatomical entity", + "anatomical structure morphogenesis", "Abnormal ear physiology", "ecto-epithelium", - "abnormal closing of the anatomical entity", - "reproductive structure", - "tunica fibrosa of eyeball", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "upper limb segment", - "biological_process", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "absent gamete", - "naris", - "iris", - "abnormal number of anatomical enitites of type anatomical entity", - "organ", - "pedal digit plus metapodial segment", - "reproduction", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "Abnormality of the peripheral nervous system", - "trunk region element", - "cerebral cortex", - "tracheobronchial tree", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "abnormal synovial joint morphology", - "reproductive system", - "multi-limb segment region", - "ventricle of nervous system", - "paralysed anatomical entity", + "Abnormality of the vasculature", + "incomplete closing of the anatomical entity", + "postcranial axial skeleton", + "localised multicellular anatomical structure", + "anatomical structure formation involved in morphogenesis", + "tube formation", + "eyelid morphology phenotype", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "incomplete closing of the vessel", + "presumptive structure", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "entire sense organ system", + "formed organ part", + "bony vertebral centrum", + "cranial neuron projection bundle", + "Clubbing", + "head bone", + "shape digit", + "peripheral nervous system morphology phenotype", + "Abnormal spinal cord morphology", + "nerve phenotype", + "developmental process", + "increased size of the heart right ventricle", + "nervous system morphology phenotype", + "ectoderm-derived structure physiology phenotype", + "manual digit 1 or 5", + "abdominal segment bone", + "Cranial nerve paralysis", + "increased number of multicellular anatomical structure", + "Spinal dysraphism", + "Frontal bossing", + "nerve", + "esophagus morphology phenotype", + "cranial nerve", + "internal naris atresia", + "musculature of body", + "nerve of head region", + "phenotype", + "anatomical space", "pelvic appendage", - "abnormal eyeball of camera-type eye", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "body proper", - "abnormal respiratory tube morphology", + "body part movement", + "cranial nerve phenotype", + "artery phenotype", + "autopodial extension", + "Abnormal cranial nerve physiology", + "appendage girdle complex", + "Abnormal limb bone morphology", + "reproductive process", + "kidney phenotype", + "limb morphology phenotype", + "cognition", + "leukocyte morphology phenotype", + "skeletal element phenotype", + "nerve of head region phenotype", + "decreased functionality of the myocardium", + "limb bone phenotype", + "face", + "multicellular anatomical structure mass phenotype", + "aplasia or hypoplasia of manual digit", + "bone of pectoral complex morphology phenotype", + "increased number of brain ventricle/choroid plexus", + "vertebral column phenotype", + "Hernia of the abdominal wall", + "autopodial extension phenotype", + "Abnormal forearm bone morphology", + "forelimb zeugopod morphology phenotype", + "limb skeleton subdivision", + "femur", + "skull", + "cerebral hemisphere", + "bone of pectoral complex phenotype", + "vault of skull phenotype", + "epithelium development", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "cerebral hemisphere gray matter", + "skin of body", + "Abnormal peripheral nervous system morphology", + "arm bone phenotype", + "olfactory organ phenotype", + "multi-limb segment region phenotype", + "Nystagmus", + "esophagus", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "endochondral element phenotype", + "forelimb bone phenotype", + "bone element", + "decreased reproductive process", + "skeletal element", + "zeugopod", + "system development", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "bony vertebral centrum morphology phenotype", + "Abnormality of the upper limb", + "reproductive system morphology phenotype", + "olfactory system", + "Neoplasm by anatomical site", + "limb", + "increased size of the material anatomical entity", + "respiratory system", + "hip joint", + "Small intestinal stenosis", + "flat longitudinal arch of pes", + "neuron projection bundle phenotype", + "Abnormal morphology of ulna", + "multicellular organismal reproductive process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "pectoral appendage skeleton", + "alimentary part of gastrointestinal system phenotype", + "ulna endochondral element", + "localised gonad", + "paired limb/fin", + "incomplete closing of the skeletal element", + "absent sperm", + "subdivision of skeleton", + "shape of forehead phenotype", + "endochondral bone", + "decreased number of anatomical entity", + "Abnormal forebrain morphology", + "Abnormal forearm morphology", + "vertebra", + "multicellular organism height phenotype", + "forelimb long bone", + "vertebral element", + "pelvic region element phenotype", + "viscus", + "reproductive organ phenotype", + "decreased size of the skeletal element", + "bone of free limb or fin", + "arch of centrum of vertebra phenotype", + "limb endochondral element", + "neural tube formation", + "neuron projection bundle", + "digestive system gland phenotype", + "increased length of the skin of eyelid", + "internal male genitalia phenotype", + "Abnormal appendicular skeleton morphology", + "paired limb/fin phenotype", + "Abnormal internal genitalia", + "localised testis", + "decreased qualitatively sensory perception of light stimulus", + "forelimb morphology phenotype", + "Myelodysplasia", + "Abnormal blood vessel morphology", + "parasympathetic ganglion", + "formed ectoderm-derived structure", + "decreased size of the arm bone", + "cardiovascular system phenotype", + "anatomical cluster phenotype", + "blood", "Abnormal morphology of female internal genitalia", "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", + "Functional abnormality of male internal genitalia", + "acropodium region", + "coronary vessel", + "cranial nerve physiology phenotype", + "ventricle of nervous system", + "paralysed anatomical entity", + "multi-limb segment region", + "blood vessel", + "compound organ", + "eye", + "venous system", + "outflow tract", + "germ cell", + "Abnormal long bone morphology", + "vasculature", + "upper urinary tract phenotype", + "Abnormal jaw morphology", + "Meckel diverticulum", + "irregular bone", + "organism", + "secondary palate", + "male reproductive organ morphology phenotype", + "skeleton of digitopodium", + "myeloid cell homeostasis", + "glans penis", + "synovial joint of pelvic girdle morphology phenotype", + "Abnormal preputium morphology", + "penis morphology phenotype", + "immune system phenotype", + "digit phenotype", + "mouth phenotype", + "Abnormality of limbs", + "craniocervical region phenotype", + "cornea morphology phenotype", + "leg bone", + "Abnormal skin morphology", + "multi-tissue structure phenotype", + "opaque anatomical entity", + "decreased anatomical structure mass", + "forelimb zeugopod bone phenotype", + "pigmentation", + "developing anatomical structure", + "skeleton of limb", + "Abnormality of skin pigmentation", + "female reproductive system", + "dermal skeleton", + "phenotypic effect", + "aplasia or hypoplasia of iris", + "pigmentation phenotype", + "heart left ventricle morphology phenotype", + "individual digit of digitopodial skeleton", + "Umbilical hernia", + "Arteriovenous malformation", + "increased size of the multi-tissue structure", + "head bone morphology phenotype", + "Abnormal eye morphology", + "incomplete closing of the secondary palate", + "increased length of the material anatomical entity", + "subdivision of skeletal system phenotype", + "integument", + "Abnormal connection of the cardiac segments", + "leg phenotype", + "cardiac atrium", + "Abnormality of the integument", + "genitourinary system phenotype", + "Abnormality of the forehead", + "mouth morphology phenotype", + "multicellular organismal process", + "bone of pelvic complex", + "system process", + "sensory perception", + "number of anatomical enitites of type anatomical entity phenotype", + "Neurodevelopmental abnormality", + "nervous system physiology phenotype", "process", - "vestibulo-auditory system", - "anterior uvea", - "abnormality of camera-type eye physiology", + "Abnormal shape of the frontal region", + "central nervous system", + "Abnormality of limb bone", + "autopod endochondral element", + "shape anatomical entity", + "mandible phenotype", + "autonomic ganglion", + "axial skeletal system", + "brain", + "ventricular system of central nervous system", + "neural crest-derived structure, curved phenotype", + "number of anatomical enitites of type organ part phenotype", + "musculature phenotype", + "reproductive system physiology phenotype", + "myeloid cell differentiation", + "increased number of organ part", + "decreased biological_process in skin of body", + "alimentary part of gastrointestinal system morphology phenotype", + "eyeball of camera-type eye", + "decreased length of forelimb zeugopod bone", + "digit 1 plus metapodial segment", + "Abnormality of the anus", + "cerebrospinal fluid morphology phenotype", + "synovial joint", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "increased number of anatomical entity in the cerebrospinal fluid", + "facial bone", + "increased number of brain ventricle", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "size of heart right ventricle phenotype", + "Abnormality of the urinary system", + "incomplete closing of the neural crest-derived structure", + "Abnormal cerebrospinal fluid morphology", + "external soft tissue zone", + "Abnormal mandible morphology", + "skeletal system phenotype", + "male gamete generation phenotype", + "digit plus metapodial segment", + "head", + "internal genitalia phenotype", + "bone of appendage girdle complex phenotype", + "Abnormal esophagus morphology", + "increased number of anatomical structure in the cerebrospinal fluid", "organism subdivision", - "Dolichocephaly", - "common carotid artery plus branches", - "drooping eyelid", - "Abnormal cardiac ventricle morphology", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "lower urinary tract", - "Abnormality of globe location", + "multicellular organismal-level homeostasis", + "chordate embryonic development", + "anterior segment of eyeball", + "Abnormal morphology of the great vessels", + "pectoral complex", + "Abnormality of the peripheral nervous system", + "trunk region element", + "endoderm-derived structure", + "lateral structure", + "Orofacial cleft", + "digestive system element", + "Abnormal digestive system morphology", "Tracheoesophageal fistula", + "spinal cord morphology phenotype", "Abnormal cardiac atrium morphology", "Neoplasm", "Abnormal intestine morphology", - "external soft tissue zone", - "digit plus metapodial segment", - "head", - "abnormal reproductive system", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "ileum", - "embryonic tissue", - "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "Syndactyly", - "abnormal head morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Sloping forehead", - "abnormal manual digit 5 morphology", - "non-connected functional system", + "nervous system process", + "limb bone morphology phenotype", + "Aplasia/Hypoplasia affecting the eye", + "Abnormal gastrointestinal tract morphology", + "embryonic morphogenesis", + "phalanx of pes morphology phenotype", + "body proper", + "opening of the anatomical entity", + "cell phenotype", + "tracheobronchial tree morphology phenotype", + "subdivision of organism along main body axis phenotype", + "tunica fibrosa of eyeball", + "anatomical structure physiology phenotype", + "mesoderm-derived structure phenotype", + "appendage", + "Abnormal facial shape", + "location of anatomical entity phenotype", + "tube morphogenesis", + "camera-type eye morphology phenotype", + "brain gray matter", + "embryo development", + "Abnormal tracheobronchial morphology", + "eukaryotic cell", + "Abnormal brain morphology", + "size of brain ventricle phenotype", + "limb phenotype", + "Abnormal anterior eye segment morphology", + "organ subunit", + "absent sperm in the semen", + "increased number of material anatomical entity in the cerebrospinal fluid", + "connective tissue phenotype", + "increased biological_process", "digestive tract", - "subdivision of digestive tract", - "Abnormal pinna morphology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "abnormality of cranial nerve physiology", + "face morphology phenotype", + "Abnormal external genitalia", + "arm phenotype", + "digestive system phenotype", + "Abnormal respiratory system physiology", + "reproductive structure physiology phenotype", + "Short stature", + "Abnormality of the vertebral column", + "reproductive organ physiology phenotype", + "anatomical structure formation involved in morphogenesis phenotype", + "male reproductive organ", + "sensory perception of mechanical stimulus phenotype", + "internal naris phenotype", + "disconnected anatomical group", + "cerebral cortex", + "tracheobronchial tree", + "decreased size of the forelimb bone", + "tube development", + "multicellular anatomical structure phenotype", + "Abnormal toe morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "Abnormality of the urethra", + "immaterial entity", + "Abnormal systemic arterial morphology", + "renal system", + "peripheral nervous system", + "Abnormal anterior chamber morphology", + "zeugopodial skeleton", + "head morphology phenotype", + "forelimb skeleton", + "immune system", + "endocrine system", + "sense organ physiology phenotype", + "ear physiology phenotype", + "uterus morphology phenotype", + "Abnormal neural tube morphology", + "Abnormal enteric ganglion morphology", + "excretory system", + "craniocervical region morphology phenotype", + "tube", + "increased number of ventricle of nervous system", + "male reproductive system", + "forelimb endochondral element", + "physiologic nystagmus", + "hemolymphoid system", + "organ subunit phenotype", + "respiratory tract", + "amniotic fluid phenotype", + "respiratory tube", + "glans", + "erythrocyte", + "anatomical entity physiology phenotype", + "developmental process phenotype", + "limb endochondral element phenotype", + "blood vasculature", + "ectoderm-derived structure, asymmetrically curved phenotype", + "increased reflex", + "long bone", + "material entity", + "cardiovascular system", + "number of sperm phenotype", + "skin of body phenotype", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "decreased length of limb bone", + "structure with developmental contribution from neural crest", + "intromittent organ phenotype", + "Abnormal cerebral ventricle morphology", + "pelvic girdle bone/zone morphology phenotype", + "Neural tube defect", + "prepuce", + "decreased male gamete generation", + "organ system subdivision", + "Syndactyly", + "skeletal system morphology phenotype", + "increased number of ventricle of nervous system in the cerebrospinal fluid", + "Abnormal peripheral nerve morphology by anatomical site", "independent continuant", - "abnormal pigmentation", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "Abnormal ear morphology", - "Abnormal morphology of the great vessels", - "pectoral complex", - "venous system", - "musculoskeletal movement", - "decreased qualitatively biological_process", - "anatomical entity", - "abnormal trachea morphology", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "behavior process", - "anterior chamber of eyeball", - "abnormal development of anatomical entity", - "increased biological_process", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", + "anatomical line between pupils", + "reproductive system", + "thoracic cavity element", + "skeleton", + "multicellular organism", + "Abnormality of the orbital region", + "decreased size of the limb endochondral element", + "roof of mouth", + "neural tube development", + "external genitalia", + "camera-type eye", + "decreased number of myeloid cell", + "Abnormality of mental function", + "external male genitalia phenotype", + "increased number of organ component layer in the cerebrospinal fluid", + "forelimb zeugopod bone", + "head phenotype", + "vascular system morphology phenotype", + "Abnormal digit morphology", + "penis phenotype", + "structure with developmental contribution from neural crest physiology phenotype", + "bone of pectoral complex", + "decreased length of anatomical entity", + "anatomical entity mass phenotype", + "Decreased anatomical entity mass", + "entity", + "Abnormal form of the vertebral bodies", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "gray matter of telencephalon", + "urethral meatus", + "dorsal region element", + "Abnormality of the cardiovascular system", + "central nervous system gray matter layer", + "pedal digit bone", + "increased length of the non-material anatomical boundary", + "chamber of eyeball", + "Clinodactyly", + "palatine uvula", + "reproductive structure phenotype", + "quality", + "central nervous system cell part cluster phenotype", + "anatomical collection phenotype", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Abnormal leukocyte morphology", + "axial skeleton plus cranial skeleton", + "increased length of the skin of face", + "decreased size of the limb bone", + "central nervous system morphology phenotype", + "shape of external ear phenotype", + "anatomical conduit phenotype", + "skeleton of lower jaw", + "common carotid artery plus branches morphology phenotype", + "eyelid", + "endochondral bone phenotype", + "Abnormality of the ear", + "decreased qualitatively developmental process involved in reproduction", + "Abnormal male urethral meatus morphology", + "reproductive structure", + "epithelial tube", + "decreased height of the anatomical entity", + "decreased developmental process involved in reproduction", + "Abnormality of the eye", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "decreased anatomical structure development", + "anatomical structure phenotype", + "anatomical system", + "upper digestive tract", + "sense organ phenotype", + "multicellular anatomical structure morphology in the heart phenotype", + "Abnormality of reproductive system physiology", + "appendicular skeleton morphology phenotype", + "occurrent", + "pedal digit phalanx endochondral element", + "organ", + "pedal digit plus metapodial segment", + "Phenotypic abnormality", + "multicellular anatomical structure physiology phenotype", + "increased number of organ component layer", + "nervous system", + "anatomical projection phenotype", + "anatomical system physiology phenotype", + "Displacement of the urethral meatus", + "organ part physiology phenotype", + "skin of body morphology phenotype", + "voluntary musculoskeletal movement phenotype", + "brain ventricle phenotype", + "material anatomical entity", + "Abnormality of immune system physiology", + "localised anatomical entity", + "organ system subdivision phenotype", + "simple eye phenotype", + "homeostatic process phenotype", + "behavior", + "abdomen element", + "protruding eyeball of camera-type eye", "embryonic epithelial tube formation", "respiratory airway", - "abnormal secondary palate morphology", - "subdivision of tube", - "Abnormal respiratory system morphology", - "Abnormal lens morphology", - "Multiple cafe-au-lait spots", - "system", - "transparent eye structure", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", - "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", - "brain gray matter", - "embryo development", - "Abnormal tracheobronchial morphology", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormal postcranial axial skeleton morphology", - "multicellular organismal-level homeostasis", - "chordate embryonic development", - "anterior segment of eyeball", + "subdivision of trunk", + "multicellular organismal movement", + "fused anatomical entity and anatomical entity", + "neural tube", + "male urethra", + "organ part", + "Decreased bone element mass density", + "material anatomical entity phenotype", + "Short palpebral fissure", + "umbilicus morphology phenotype", + "Abnormal skeletal morphology", + "increased pigmentation", + "Abnormality of the genital system", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", "Abnormal ventriculoarterial connection", "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal palpebral fissure", - "abnormal tube formation", - "thoracic segment of trunk", - "pes bone", - "abnormal bone of pelvic complex morphology", - "arm", - "Short stature", - "Abnormality of the vertebral column", - "abnormal digestive system", - "flat longitudinal arch of pes", - "abnormal bone of pectoral complex morphology", - "orifice", - "craniocervical region", - "abnormal developmental process", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", - "Nystagmus", - "esophagus", - "physiologic nystagmus", - "hemolymphoid system", - "Lower extremity joint dislocation", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "Hip dislocation", - "skeleton", - "multicellular organism", - "thoracic cavity element", - "Abnormal penis morphology", + "shape of continuant phenotype", + "deviation of digit towards the middle", + "lower urinary tract", + "Abnormality of globe location", + "jaw region", + "artery", + "telencephalon phenotype", + "curved anatomical entity", + "anatomical entity morphology phenotype", + "decreased length of long bone", + "subdivision of organism along appendicular axis", + "decreased length of endochondral element", + "Abnormal cell morphology", + "Abnormal palate morphology", + "articulation", + "cornea, curved phenotype", + "mesoderm-derived structure", + "autopod bone", + "system", + "anatomical structure, curved phenotype", + "brain morphology phenotype", + "subdivision of head", + "increased number of ectoderm-derived structure", + "musculoskeletal movement phenotype", + "anterior chamber of eyeball morphology phenotype", + "transparent eye structure", + "dentary", + "behavior process phenotype", + "femur endochondral element", + "organ component layer phenotype", + "subdivision of tube", + "Abnormality of the inner ear", + "vertebra morphology phenotype", + "Decreased fertility in males", + "taxon specific phenotype", + "anatomical structure", + "subdivision of oviduct", + "limb bone", + "subdivision of digestive tract phenotype", + "cerebral cortex morphology phenotype", + "urethra phenotype", + "Abnormality of the lower urinary tract", + "Hypogonadism", + "urethral opening", + "arm bone", + "skeleton of pectoral complex", + "specifically dependent continuant", + "decreased length of arm bone", + "increased size of the zone of skin", + "cornea phenotype", + "formed chamber of eyeball", + "Decreased head circumference", + "anatomical entity", + "localised material anatomical entity", + "ear phenotype", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "increased volume of anatomical entity", + "forelimb bone", + "Abnormal uvula morphology", + "endochondral element", + "anatomical entity hypoplasia", "Intellectual disability", - "abnormal ocular adnexa", "embryonic structure", + "endoderm-derived structure phenotype", "brain ventricle/choroid plexus", "proximo-distal subdivision of respiratory tract", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "organ subunit", - "Abnormal neural tube morphology", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of the testes", - "left cardiac chamber", - "Slanting of the palpebral fissure", - "Abnormal anterior eye segment morphology", + "Abnormal penis morphology", + "appendage phenotype", + "Hypoplastic facial bones", + "organism subdivision phenotype", + "arm", + "forelimb zeugopod skeleton", + "male reproductive organ phenotype", + "ocular surface region", + "thoracic segment of trunk", + "bone of jaw phenotype", + "number of anatomical enitites of type material anatomical entity phenotype", + "tetrapod frontal bone morphology phenotype", + "pes bone", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "Abnormality of the respiratory system", + "segment of autopod", + "ductus arteriosus morphology phenotype", + "increased pigmentation in skin of body", + "cranial neuron projection bundle phenotype", + "Abnormal male reproductive system physiology", + "reproductive organ", + "Abnormality of the digestive system", + "anatomical structure development", + "arterial blood vessel", + "decreased spermatogenesis", + "limb segment", + "external genitalia phenotype", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "size of palpebral fissure phenotype", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "Abnormal curvature of the vertebral column", + "multi cell part structure phenotype", + "ureter phenotype", + "hematopoietic system", + "multicellular anatomical structure", + "reproductive system phenotype", + "hindlimb endochondral element", + "ventricular system of brain", + "innominate bone morphology phenotype", + "eye phenotype", + "structure with developmental contribution from neural crest phenotype", + "Abnormal vertebral morphology", + "Abnormal male external genitalia morphology", + "localised reproductive organ", + "glandular system", + "myocardium", + "external ear", + "decreased length of bone of appendage girdle complex", + "bone of appendage girdle complex", + "anatomical wall", + "closing of the material anatomical entity", + "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid", + "sensory system", + "Scoliosis", + "multicellular anatomical structure, curved phenotype", + "Almond-shaped palpebral fissure", + "response to stimulus phenotype", + "Abdominal wall defect", + "material anatomical entity physiology phenotype", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "cerebrospinal fluid", + "main body axis", + "tissue development", + "venous blood vessel", + "camera-type eye phenotype", + "physiologic nystagmus phenotype", + "increased size of the immaterial anatomical entity", + "manus", + "chemosensory system", + "organ physiology phenotype", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "renal system phenotype", + "bone marrow cell", + "multicellular organism phenotype", + "upper limb segment", + "biological_process", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "camera-type eye physiology phenotype", + "blood vessel morphology phenotype", + "zone of skin morphology phenotype", + "ganglion", + "subdivision of head phenotype", + "Abnormality of the curvature of the cornea", + "cell", + "Abnormality of the mouth", + "Finger syndactyly", + "lower respiratory tract", + "visual system", + "uvea morphology phenotype", + "bone of craniocervical region phenotype", + "structure with developmental contribution from neural crest, curved phenotype", + "renal system physiology phenotype", + "multicellular organism morphology phenotype", + "anatomical structure, asymmetrically curved phenotype", + "Hypermelanotic macule", + "simple eye", + "Abnormality of the skeletal system", + "zone of organ phenotype", + "trachea", + "Deviation of finger", + "subdivision of digestive tract", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "number of anatomical enitites of type organ component layer phenotype", + "Abnormal lens morphology", + "simple eye physiology phenotype", + "Anal atresia", + "anatomical conduit", + "Abnormality of the head", + "Abnormal enteric nervous system morphology", + "future central nervous system", + "absent anatomical structure in the multicellular organism", + "craniofacial/craniocervical phenotype", + "fused pedal digit and pedal digit", + "ocular surface region morphology phenotype", + "decreased length of anatomical structure", "cornea", "abdominal wall", "3-D shape anatomical entity", + "external male genitalia", + "brain ventricle/choroid plexus morphology phenotype", + "orifice", "shape cornea", - "lower respiratory tract", - "visual system", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "Abnormality of the ear", - "eyelid", - "abnormally decreased number of leukocyte", + "multicellular organism development phenotype", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal vascular morphology", + "Abnormality of skull size", + "decreased length of bone of pectoral complex", + "ventricle of nervous system phenotype", + "increased number of anatomical structure", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormality of body height", + "decreased size of the mesoderm-derived structure", + "neural crest-derived structure, asymmetrically curved phenotype", + "non-material anatomical boundary", + "Abnormality of head or neck", + "cardiac chamber", + "eye physiology phenotype", + "lower urinary tract phenotype", + "non-connected functional system", + "increased number of anatomical entity", + "increased height of the neural crest-derived structure", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "anatomical system phenotype", + "incomplete closing of the abdominal wall", + "Clinodactyly of the 5th finger", + "sense organ", "orbital region", - "abnormal alimentary part of gastrointestinal system", - "Abnormal carotid artery morphology", - "Astigmatism", - "pelvic girdle region", - "paired limb/fin segment", - "multicellular organism development", - "Ventriculomegaly", - "abnormal posterior nasal aperture morphology", + "hypertrophic heart right ventricle", + "vasculature phenotype", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "anterior segment of eyeball morphology phenotype", + "face phenotype", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", "curvature anatomical entity", - "abnormal camera-type eye morphology", - "abnormal orbital region", - "abnormal bony vertebral centrum morphology", - "simple eye", - "anus", - "Abnormal skull morphology", - "sensory perception", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Weight loss", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "growth", - "cardiac valve", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Decreased body weight", - "autopodial extension", - "abnormal forelimb zeugopod bone", - "valve", - "endochondral element", - "anatomical entity hypoplasia", - "abnormal cardiac ventricle morphology", - "motile cell", - "abnormal leg", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "internal ear", - "heart left ventricle", - "epithelium", - "autopodial skeleton", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "Opisthokonta", - "Abnormality of digestive system morphology", - "Abnormality of the ocular adnexa", + "increased number of material anatomical entity", + "skeletal system", + "hindlimb skeleton", + "protein-containing material entity", + "anatomical entity phenotype", + "gamete generation", + "organ part phenotype", + "male organism", + "fused pedal digit and anatomical entity", + "Irregular hyperpigmentation", + "lateral structure phenotype", + "pelvic girdle region", + "paired limb/fin segment", + "multicellular organism development", + "Ventriculomegaly", + "urethra", + "thoracic segment organ", + "Astigmatism", + "Abnormal carotid artery morphology", + "anterior region of body", + "Abnormal reproductive system morphology", + "lateral structure physiology phenotype", + "synovial joint of pelvic girdle", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "upper leg bone", + "multicellular anatomical structure, asymmetrically curved phenotype", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "asymmetrically curved cornea", + "decreased qualitatively reproductive process", + "dermal skeletal element phenotype", + "neural crest-derived structure", + "incomplete closing of the interatrial septum", + "epithelial tube formation", + "digestive system element phenotype", + "brain ventricle morphology phenotype", + "Abnormal umbilicus morphology", + "increased number of organ part in the cerebrospinal fluid", + "Abnormal joint morphology", + "transudate", + "increased number of ectoderm-derived structure in the cerebrospinal fluid", + "multi cell part structure", + "vein", + "limb long bone morphology phenotype", + "bodily fluid", + "multi-tissue structure", + "facial skeleton morphology phenotype", + "limb long bone phenotype", + "All", + "Abnormal bone structure", + "naris phenotype", + "lens of camera-type eye morphology phenotype", + "nervous system phenotype", + "postcranial axial skeletal system", + "Clubbing of toes", + "arterial system", + "bone of pelvic complex morphology phenotype", + "kidney morphology phenotype", + "dorsum", + "nervous system development", + "tube formation phenotype", + "peripheral nervous system phenotype", + "tissue", + "cell differentiation", + "forelimb zeugopod bone morphology phenotype", + "brain ventricle", + "future nervous system", + "regional part of nervous system phenotype", + "Reduced bone mineral density", + "circulatory system", + "Spina bifida", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "appendicular skeleton", + "spinal cord", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "manual digit 1 phalanx", + "orifice phenotype", + "neocortex morphology phenotype", "gamete", "upper jaw region", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", + "palpebral fissure phenotype", "Upslanted palpebral fissure", "manual digit plus metapodial segment", "Abnormal bone ossification", - "Abnormal facial skeleton morphology", - "multi organ part structure", - "increased length of the anatomical line between pupils", - "Abnormal ocular adnexa morphology", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", "Abnormal eyelid morphology", + "palpebral fissure", "female reproductive organ", "ocular adnexa", - "palpebral fissure", - "abnormal lens of camera-type eye morphology", + "opaque lens of camera-type eye", + "blood cell phenotype", + "decreased number of leukocyte", + "lens of camera-type eye phenotype", + "Abnormality of the gastrointestinal tract", + "transparent eye structure phenotype", "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "opaque anatomical entity", - "clavate digit", - "shape eyelid", "Atrial septal defect", "drooping anatomical entity", + "eyelid phenotype", + "large intestine", "Ptosis", "Abnormal cornea morphology", "gland", - "myeloid cell homeostasis", - "glans penis", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", - "olfactory organ", + "clavate digit", + "decreased size of the anatomical structure", + "shape eyelid", + "decreased qualitatively sensory perception", + "incomplete closing of the multicellular anatomical structure", + "Hydrocephalus", + "telencephalon morphology phenotype", + "hindlimb morphology phenotype", + "anatomical projection", + "number of hematopoietic cell phenotype", + "Eumetazoa", + "phalanx morphology phenotype", + "Eukaryota", + "Metazoa", + "Abnormal hand morphology", + "forebrain morphology phenotype", + "root", + "aplasia or hypoplasia of telencephalon", + "Abnormality of the male genitalia", + "increased size of the organ part", + "cellular organisms", + "size of skull phenotype", + "increased length of the multicellular anatomical structure", + "Bicornuate uterus", + "regional part of brain phenotype", + "limb long bone", + "aplasia or hypoplasia of anatomical entity", + "systemic artery morphology phenotype", + "decreased biological_process", + "size of anatomical entity phenotype", + "female reproductive system morphology phenotype", + "telencephalon", "cranial skeletal system", "nose", + "decreased size of the endochondral element", "endocrine gland", - "sperm", - "internal naris", - "Neoplasm by anatomical site", - "olfactory system", - "Abnormality of the nervous system", - "pedal digit digitopodial skeleton", - "pelvic region of trunk", - "bony vertebral centrum", - "abnormal olfactory system morphology", - "abnormal nose", - "Abnormal male urethral meatus morphology", - "renal system", - "male urethra", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "abnormal urethra", - "excretory system", - "posterior nasal aperture atresia", - "Hypospadias", - "epicanthal fold", - "hindlimb long bone", - "abnormal lower urinary tract", - "segment of pes", - "voluntary movement behavior", - "Renal hypoplasia/aplasia", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", - "thoracic segment organ", - "urethra", - "gray matter of telencephalon", - "urethral meatus", - "Abnormality of prenatal development or birth", - "nervous system", - "abnormal face", - "Displacement of the urethral meatus", - "abnormal spermatogenesis", - "Abnormal shape of the palpebral fissure", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "root", - "regional part of nervous system", - "Abnormal midface morphology", - "Decreased head circumference", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "Abnormal pulmonary valve morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anterior chamber of eyeball morphology", - "telencephalon", - "Abnormal vascular morphology", - "Abnormality of skull size", - "Eukaryota", - "Deviation of the 5th finger", - "regional part of brain", - "Visual impairment", - "ulna", - "abdomen", - "deviation of manual digit towards the middle", - "Eumetazoa", "tube closure", + "ocular adnexa phenotype", "Aplasia/Hypoplasia of the cerebrum", + "autonomic nervous system phenotype", "Abnormality of the abdominal organs", + "vertebral column morphology phenotype", "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", - "abnormality of renal system physiology", - "abnormal esophagus morphology", - "abnormal size of anatomical entity", - "digit 1 plus metapodial segment", - "synovial joint", - "Abnormality of the anus", - "abnormal immune system", - "pedal digitopodium region", - "abnormally decreased number of cell", - "Functional abnormality of the inner ear", - "pedal digit", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "axial skeleton plus cranial skeleton", - "Abnormal leukocyte morphology", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "Leukopenia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal kidney", - "abnormal number of anatomical enitites of type leukocyte", - "abnormally decreased number of leukocyte in the blood", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "haemolymphatic fluid", - "abnormal hematopoietic system", - "delayed growth", - "abnormal immune system morphology", - "Hematological neoplasm", - "Reduced bone mineral density", - "Myelodysplasia", - "Abnormality of vision", - "Non-obstructive azoospermia", - "increased size of the anatomical entity in independent continuant", - "central nervous system gray matter layer", - "chamber of eyeball", - "pedal digit bone", - "cardiac atrium", - "Abnormality of the integument", - "abnormal size of brain ventricle", + "Deviation of the 5th finger", + "regional part of brain", + "regional part of nervous system", + "interventricular septum", + "increased length of the anatomical line", + "ganglion of peripheral nervous system morphology phenotype", + "Abnormal midface morphology", + "Abnormal skull morphology", + "skull morphology phenotype", + "oral cavity", + "Abnormality of the ocular adnexa", + "Opisthokonta", + "testis", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Abnormality of the testis size", + "gonad", + "palatine uvula morphology phenotype", + "Decreased anatomical entity mass density", + "embryo", + "Absent testis", + "integument phenotype", + "vision/eye phenotype", + "secondary palate morphology phenotype", + "decreased length of forelimb bone", + "long bone phenotype", + "Abnormality of the outer ear", + "number of myeloid cell phenotype", + "absent germ cell", + "ear morphology phenotype", + "bone element phenotype", + "male reproductive system phenotype", + "vestibulo-auditory system", + "anterior uvea", + "Abnormality of blood and blood-forming tissues", + "external ear phenotype", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "increased size of the non-material anatomical boundary", + "incomplete closing of the organ", + "Abnormal pinna morphology", + "Abnormal ear morphology", + "ear", + "artery morphology phenotype", + "developmental process involved in reproduction phenotype", + "male reproductive organ physiology phenotype", + "internal male genitalia", + "anatomical entity morphology in the brain phenotype", + "incomplete closing of the ectoderm-derived structure", + "eyeball of camera-type eye phenotype", + "increased size of the anatomical structure", + "multi organ part structure phenotype", + "increased size of the ventricle of nervous system", + "epicanthal fold", + "hindlimb long bone", + "decreased length of multicellular anatomical structure", + "abdomen element phenotype", + "increased size of the organ component layer", + "Abnormal nasal morphology", + "internal male genitalia physiology phenotype", + "duodenum morphology phenotype", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "paralysed cranial nerve", + "increased size of the ectoderm-derived structure", + "abdomen element physiology phenotype", + "increased length of the zone of organ", + "absent anatomical structure", + "trunk", + "manual digit 5 plus metapodial segment", + "female reproductive system phenotype", "zone of organ", + "skull phenotype", "increased size of the brain ventricle", - "liver", - "abnormal endocrine system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", + "increased size of the multicellular anatomical structure", + "visual perception phenotype", + "craniocervical region", + "endocrine system phenotype", + "structure with developmental contribution from neural crest, asymmetrically curved phenotype", + "digestive system morphology phenotype", + "exocrine gland phenotype", "Decreased fertility", - "Abnormality of the endocrine system", - "forelimb", - "skeleton of pelvic complex", + "Abnormality of the genitourinary system", + "exocrine system", + "decreased length of forelimb endochondral element", + "intromittent organ", + "respiratory system morphology phenotype", + "gland phenotype", + "Abnormality of the liver", + "fused anatomical entity and manual digit", + "incomplete closing of the roof of mouth", + "liver", + "abdominal segment element phenotype", "abdominal segment of trunk", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "trunk region element phenotype", "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "Abnormality of the liver", - "behavior", - "abdomen element", - "glandular system", - "abnormal hypothalamus-pituitary axis", - "non-material anatomical boundary", - "abnormally fused pedal digit and anatomical entity", - "abnormal location of anatomical entity", - "Renal insufficiency", - "late embryo", - "Cardiomyopathy", - "flat bone", - "increased anatomical entity length in independent continuant", + "gonad phenotype", + "internal ear phenotype", + "liver phenotype", + "decreased functionality of the mesoderm-derived structure", + "gamete generation phenotype", + "subdivision of skeletal system", + "hepatobiliary system", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "behavior process", + "cardiovascular system morphology phenotype", + "anterior chamber of eyeball", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "material anatomical entity, curved phenotype", + "endocrine gland phenotype", + "increased size of the right cardiac chamber", + "hypothalamus-pituitary axis phenotype", + "posterior nasal aperture phenotype", + "hypothalamus-pituitary axis", + "Abnormal reflex", + "hindlimb joint", + "anatomical line phenotype", + "penis", + "increased size of the anatomical line", + "tube phenotype", "Hypertelorism", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", - "immaterial anatomical entity", - "abnormal anatomical entity, curved", + "increased length of the anatomical entity", "anatomical line", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "Oligohydramnios", - "amniotic fluid", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "duodenum", + "immaterial anatomical entity phenotype", + "non-material anatomical boundary phenotype", + "increased length of the immaterial anatomical entity", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "intestine", + "ectoderm-derived structure phenotype", + "immaterial anatomical entity", + "anatomical entity length phenotype", + "decreased qualitatively multicellular organism development", + "digit", + "location of eyeball of camera-type eye phenotype", + "decreased size of the sense organ", + "vessel", + "spermatogenesis phenotype", + "anatomical entity atresia", + "Abnormal spermatogenesis", + "absent material anatomical entity in the multicellular organism", + "morphogenesis of embryonic epithelium", + "haploid cell", + "germ line cell", + "Cafe-au-lait spot", + "gamete phenotype", + "absent material anatomical entity", + "spermatogenesis", + "internal naris", + "sperm", + "erythroid lineage cell morphology phenotype", + "limb segment phenotype", + "number of cell phenotype", + "decreased qualitatively developmental process", + "reproductive process phenotype", + "male gamete", + "prepuce of penis morphology phenotype", + "absent gamete", + "decreased sensory perception of mechanical stimulus", + "iris", + "integumental system", + "semen", + "Aplasia/Hypoplasia affecting the uvea", + "decreased gamete generation", + "absent anatomical entity in the semen", + "subdivision of skeleton phenotype", + "male reproductive system physiology phenotype", + "conceptus", + "decreased multicellular organismal reproductive process", + "Abnormal cellular phenotype", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "internal genitalia", + "skeleton of pes", + "pes morphology phenotype", + "organ part morphology in the heart phenotype", + "reproduction", + "closing of the anatomical conduit", + "developmental process rate phenotype", + "epithelium", + "autopodial skeleton", + "outflow tract of ventricle", + "increased size of the brain ventricle/choroid plexus", + "Abnormality of the skin", + "biological_process rate phenotype", + "Abnormality of the palpebral fissures", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "oxygen accumulating cell", + "manual digit phenotype", + "multicellular organismal reproductive process phenotype", + "Abnormality of the nose", + "developmental process involved in reproduction", + "sexual reproduction", + "male gamete generation", + "fused anatomical entity and digit", + "hematopoietic system phenotype", + "small intestine morphology phenotype", + "small intestine", "cavitated compound organ", "Abnormal duodenum morphology", - "abnormal hindlimb morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "small intestine phenotype", + "Abnormal foot morphology", + "Duodenal stenosis", + "testis phenotype", + "Abnormality of movement", + "intestine morphology phenotype", + "subdivision of tube phenotype", + "increased length of the skin of head", + "Azoospermia", + "Abnormal small intestine morphology", "clavate anatomical entity", "Hydroureter", + "membrane bone phenotype", "Abnormal uterus morphology", + "myocardium phenotype", "Abnormal oral morphology", - "shape forehead", - "posterior region of body", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal digit", - "skeleton of pedal digitopodium", - "skeleton of pedal acropodium", - "vertebral centrum element", - "pelvic appendage skeleton", - "hindlimb endochondral element", - "skeleton of pes", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", - "Duodenal stenosis", - "Abnormal foot morphology", - "Hypermelanotic macule", + "Choanal atresia", + "acropodial skeleton", + "autopod region morphology phenotype", + "continuant", + "hindlimb", + "Functional abnormality of the inner ear", + "pedal digit", "leg", - "abnormally decreased number of anatomical entity in the blood", + "neoplasm phenotype", "phalanx of pes", - "abnormal long bone morphology", + "cardiac valve morphology phenotype", + "orifice atresia", "digitopodium bone", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal iris morphology", "phalanx", - "abnormal phalanx of pes morphology", - "3-D shape anatomical entity in independent continuant", - "abnormal digit morphology", - "Choanal atresia", - "acropodial skeleton", - "digit", - "abnormal phalanx morphology", - "pes", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "Abnormal digit morphology", - "phalanx endochondral element", - "abnormal autopod region morphology", "Abnormality of the lower limb", - "individual digit of digitopodial skeleton", + "jaw skeleton", + "exocrine gland", + "hindlimb bone", + "phalanx endochondral element", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "pes", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "localised reproductive structure", "digitopodium region", - "genitourinary system", - "Limb undergrowth", - "abnormal kidney morphology", - "skull", - "femur", + "fused manual digit and manual digit", + "pedal digitopodium region", + "material anatomical entity, asymmetrically curved phenotype", + "lower limb segment", + "increased length of the anatomical structure", + "pedal digitopodium bone", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "digit morphology phenotype", + "pelvic complex", + "duodenum", + "formed organ subunit", + "long bone morphology phenotype", + "incomplete closing of the mesoderm-derived structure", + "decreased size of the forelimb zeugopod bone", + "joint of girdle morphology phenotype", + "Proptosis", + "hindlimb stylopod", + "lower limb segment phenotype", + "pelvic girdle skeleton", + "pedal digit morphology phenotype", + "posterior region of body", + "Abnormal lower limb bone morphology", + "incomplete closing of the arch of centrum of vertebra", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "radius endochondral element", + "skin of face morphology phenotype", + "Abnormal renal morphology", + "subdivision of organism along appendicular axis phenotype", + "Abnormal cardiovascular system morphology", + "Abnormal ocular adnexa morphology", + "cavitated compound organ phenotype", + "Abnormal localization of kidney", "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", + "Abnormal anus morphology", + "compound organ phenotype", + "decreased functionality of the reproductive organ", + "Abnormality of the female genitalia", + "cardiac ventricle morphology phenotype", + "renal system morphology phenotype", + "male reproductive system morphology phenotype", + "orbital region phenotype", "Abnormality of the kidney", - "Decreased fertility in males", - "prominent anatomical entity", - "abnormal roof of mouth morphology", - "anatomical projection", - "abnormal midface morphology", + "neural tube closure phenotype", + "kidney", "mouth", "Aplasia/Hypoplasia of the iris", + "midface morphology phenotype", + "oral cavity morphology phenotype", + "morphological feature phenotype", + "myocardium morphology phenotype", + "incomplete closing of the anatomical structure", "Abnormal oral cavity morphology", + "roof of mouth morphology phenotype", + "anatomical cavity", "Abnormal aortic valve morphology", + "increased number of multicellular anatomical structure in the cerebrospinal fluid", "midface", - "abnormal soft palate morphology", - "palatine uvula", "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", "soft palate", - "abnormal oral cavity morphology", - "abnormal mouth", + "soft palate morphology phenotype", + "Abnormal soft palate morphology", "primary circulatory organ", + "ectoderm-derived structure, curved phenotype", "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", - "Abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "anatomical cavity", - "absent sperm", - "abnormally formed anatomical entity", - "nervous system cell part layer", - "abnormal pes morphology", - "aplasia or hypoplasia of uvea", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal anterior uvea morphology", - "abnormal artery morphology in the independent continuant", - "abnormal penis morphology", - "abnormal cranium morphology", - "Abnormality iris morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "Abnormal uvea morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", "malformed anatomical entity", - "circulatory organ", - "uvea", + "subdivision of organism along main body axis", + "formed anterior chamber of eyeball", "Abnormal hip joint morphology", "aplasia or hypoplasia of eyeball of camera-type eye", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", + "fused digit and digit", + "decreased length of organ", + "formed multicellular anatomical structure", + "iris phenotype", + "decreased qualitatively multicellular organismal reproductive process", + "formed anatomical structure", + "formed material anatomical entity", + "decreased length of mesoderm-derived structure", + "systemic arterial system", + "Abnormal cerebral morphology", + "palatine uvula phenotype", + "Joint dislocation", + "Abnormal uvea morphology", + "Abnormality iris morphology", + "circulatory organ", + "uvea", + "anatomical collection", + "Macule", "increased biological_process in skin of body", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "integument", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", - "abnormal cardiac valve morphology", + "posterior nasal aperture atresia", + "cerebral hemisphere morphology phenotype", + "Hypospadias", + "fused manual digit and anatomical entity", + "decreased size of the multicellular anatomical structure", + "musculature", "Localized skin lesion", "Abnormal 5th finger morphology", "Abnormal thumb morphology", "aplasia or hypoplasia of ulna", - "increased pigmentation in independent continuant", - "manual digit bone", - "abnormal biological_process in independent continuant", - "non-functional kidney", - "decreased size of the anatomical entity", - "Abnormal cerebral cortex morphology", - "forebrain", - "increased qualitatively biological_process", - "abnormal cell morphology", - "anatomical collection", - "Macule", - "abnormal cornea, curved", - "pigmentation", - "eyeball of camera-type eye", - "abnormal upper urinary tract", - "abnormal skin of body", - "Abnormality of skin morphology", - "abnormality of kidney physiology", - "changed biological_process rate in independent continuant", - "abnormal asymmetry of face", - "abnormal integument", - "abnormal manus", - "abnormal manus morphology", - "Aplasia/hypoplasia involving bones of the hand", + "Abnormal size of the palpebral fissures", + "autopod region phenotype", + "Finger clinodactyly", + "anatomical entity morphology in the manus phenotype", + "manual digit", + "skeleton phenotype", + "manus morphology phenotype", + "number of anatomical enitites of type anatomical structure phenotype", "skeleton of manus", - "Aplasia/Hypoplasia of fingers", - "abnormal cardiac valve morphology in the heart", + "segment of manus", + "vascular system", + "aplasia or hypoplasia of skeleton", "Abnormality of the hand", + "bone of hip region", + "external ear morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "Aplasia/hypoplasia involving bones of the hand", + "amniotic fluid", + "anatomical entity morphology in the pectoral complex phenotype", + "neural crest-derived structure phenotype", + "manual digit morphology in the manus phenotype", "decreased pigmentation in skin of body", + "incomplete closing of the anatomical conduit", "Abnormal finger morphology", - "vascular system", - "abnormal anterior segment of eyeball morphology", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", "Aplasia/hypoplasia involving the skeleton", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", - "male reproductive system", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "appendage", - "abnormally fused digit and digit", - "Clinodactyly of the 5th finger", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", + "fused digit and anatomical entity", + "anatomical entity mass density phenotype", + "pelvic girdle bone/zone", + "eye movement phenotype", + "respiratory system phenotype", + "Abnormality of bone mineral density", + "brain ventricle/choroid plexus phenotype", + "bone element mass density phenotype", "biogenic amine secreting cell", "ossification", - "Abnormality of bone mineral density", - "cardiac chamber", - "abnormal spatial pattern of anatomical entity", - "abnormal late embryo", - "Deviation of the hand or of fingers of the hand", "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of digit towards the middle", + "digit 1 or 5", + "cranial nerve related reflex", + "manual digit 5 morphology phenotype", + "manual digit 5", + "spatial pattern of anatomical entity phenotype", + "digit 1 or 5 phenotype", + "digit 5 plus metapodial segment", + "digestive system", + "decreased length of endochondral bone", + "Deviation of the hand or of fingers of the hand", "appendicular skeletal system", - "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", "deviation of manual digit", - "trunk", - "manual digit 5 plus metapodial segment", - "digit 1 or 5", - "manual digit 5", - "hypertrophic multicellular anatomical structure", - "dermal skeletal element", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin skeleton", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", - "Upper limb undergrowth", - "forelimb zeugopod bone hypoplasia", - "abnormal incomplete closing of the interatrial septum", - "intestine", - "Decreased multicellular organism mass", - "Aplasia/Hypoplasia of the ulna", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", - "Short forearm", - "Aplasia/hypoplasia involving forearm bones", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", + "decreased functionality of the organ part", + "upper limb segment phenotype", + "decreased length of bone element", + "ulna phenotype", "increased height of the secondary palate", "Tetralogy of Fallot", + "organ phenotype", "Forearm undergrowth", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "Micrognathia", - "anatomical entity dislocation", - "Abnormal localization of kidney", - "abnormal skeletal joint morphology", - "articulation", - "cerebral hemisphere gray matter", - "skin of body", - "abnormal pelvic girdle bone/zone morphology", - "skeletal joint dislocation", - "peripheral nervous system", - "abnormal hip joint morphology", - "articular system", - "abnormal embryonic tissue morphology", - "zone of bone organ", - "Abnormal hip bone morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", - "stylopod", - "upper leg bone", - "abnormal femur morphology", - "abnormal hindlimb stylopod morphology", - "dentary", - "femur endochondral element", - "Abnormality of femur morphology", - "Abnormality of enteric ganglion morphology", - "abnormal intestine morphology", - "abnormal face morphology", - "axial skeletal system", - "autonomic ganglion", - "enteric ganglion", - "parasympathetic ganglion", - "enteric nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "autonomic nervous system", - "Unusual infection", - "abnormal enteric ganglion morphology", - "neurocranium bone", - "parasympathetic nervous system", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal autonomic nervous system morphology", + "genitourinary system", + "Limb undergrowth", + "decreased size of the forelimb endochondral element", + "cardiac ventricle morphology in the heart phenotype", + "decreased size of the anatomical entity", + "Upper limb undergrowth", + "decreased length of material anatomical entity", + "decreased length of skeletal element", + "decreased size of the long bone", + "decreased size of the material anatomical entity", + "decreased size of the endochondral bone", + "Hematological neoplasm", + "decreased size of the organ", + "ulna hypoplasia", + "head bone phenotype", + "decreased size of the bone of pectoral complex", + "Short long bone", + "decreased length of bone of free limb or fin", + "decreased size of the bone of free limb or fin", + "increased response to external stimulus", + "forelimb zeugopod bone hypoplasia", + "forelimb long bone phenotype", + "paired limb/fin skeleton", + "respiratory system physiology phenotype", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "decreased size of the bone element", + "Short forearm", + "decreased length of limb endochondral element", + "decreased size of the anatomical entity in the pectoral complex", + "decreased size of the bone of appendage girdle complex", + "increased length of the zone of skin", + "Aplasia/hypoplasia involving forearm bones", + "Cardiomyopathy", + "flat bone", + "pelvic region element", + "Hyperpigmentation of the skin", + "limb joint", + "anatomical conduit atresia", + "joint of girdle", + "manus phenotype", + "hindlimb joint phenotype", + "zone of bone organ", + "skeletal joint", + "articulation phenotype", + "Micrognathia", + "anatomical entity dislocation", + "skeletal joint dislocation", ], }, { - "id": "MONDO:0013499", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "name": "Fanconi anemia complementation group O", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"], "synonym": [ - "FANCP", - "Fanconi Anemia, complementation group type P", - "Fanconi anaemia caused by mutation in SLX4", - "Fanconi anaemia caused by mutation in Slx4", - "Fanconi anaemia complementation group type P", - "Fanconi anemia caused by mutation in SLX4", - "Fanconi anemia caused by mutation in Slx4", - "Fanconi anemia complementation group type P", - "Fanconi anemia, complementation group P", - "SLX4 Fanconi anaemia", - "SLX4 Fanconi anemia", - "Slx4 Fanconi anaemia", - "Slx4 Fanconi anemia", + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0002984", "HP:0009777", - "HP:0000957", - "HP:0000252", - "HP:0001510", - "HP:0000581", - "HP:0001876", - "HP:0000347", + "HP:0040012", + "HP:0001245", + "HP:0003774", + "HP:0002984", + "HP:0000126", + "HP:0000028", "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", + "HP:0009623", + "HP:0001627", + "HP:0000107", + "HP:0003241", "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0002860", - "HP:0001045", + "HP:0002023", + "HP:0025023", ], "has_phenotype_label": [ - "Hypoplasia of the radius", "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Growth delay", - "Blepharophimosis", - "Pancytopenia", - "Micrognathia", + "Chromosome breakage", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Hypoplasia of the radius", + "Hydronephrosis", + "Cryptorchidism", "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", + "Proximal placement of thumb", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Squamous cell carcinoma", - "Vitiligo", + "Anal atresia", + "Rectal atresia", ], - "has_phenotype_count": 20, + "has_phenotype_count": 15, "has_phenotype_closure": [ - "HP:0002860", - "HP:0008069", - "HP:0000086", - "UBERON:0005156", - "GO:0032504", - "HP:0012243", - "UPHENO:0050101", - "UPHENO:0078452", - "UBERON:0003101", - "UPHENO:0049701", - "UBERON:0004054", - "UBERON:0000473", - "UPHENO:0085873", - "UPHENO:0049367", - "UPHENO:0086198", - "GO:0022414", - "UBERON:0004176", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "HP:0000035", - "HP:0000078", - "UPHENO:0002371", - "UPHENO:0086201", - "UPHENO:0003055", - "HP:0000811", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0005016", - "UBERON:0000463", - "UPHENO:0078729", - "HP:0008669", - "CL:0000408", - "UPHENO:0085194", - "UPHENO:0049940", - "UPHENO:0052778", - "HP:0000032", - "UBERON:0001968", - "GO:0000003", - "UPHENO:0087802", - "GO:0019953", - "GO:0003006", - "GO:0048609", - "UPHENO:0002378", - "UPHENO:0049985", - "GO:0007283", - "GO:0007276", - "UPHENO:0049970", - "UPHENO:0002598", - "CL:0000586", - "GO:0048232", - "UPHENO:0087547", - "UPHENO:0052178", - "UPHENO:0050625", - "HP:0012874", - "UPHENO:0002332", - "HP:0000028", - "UPHENO:0052231", - "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", - "UBERON:0002105", - "UPHENO:0005433", - "UPHENO:0081424", - "UPHENO:0080351", - "UPHENO:0081423", - "UPHENO:0075159", - "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "GO:0010558", - "GO:0006325", - 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"UBERON:0002616", - "UPHENO:0026181", - "UBERON:0001032", - "UPHENO:0002964", - "HP:0012443", - "HP:0001507", - "UPHENO:0086023", - "HP:0001510", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0001456", - "HP:0005105", - "UPHENO:0000543", - "UPHENO:0049874", - "HP:0030669", - "HP:0006503", - "UBERON:0002104", - "UBERON:0003462", - "UBERON:0034921", - "UBERON:0011584", - "UPHENO:0084987", - "HP:0032039", - "UBERON:0001819", - "UPHENO:0080200", - "HP:0200007", - "HP:0000315", - "UPHENO:0085189", - "HP:0045025", - "UPHENO:0041821", - "UPHENO:0020041", - "HP:0000271", - "UBERON:0001474", - "CL:0000329", - "HP:0000125", - "UPHENO:0002910", - "HP:0010461", - "UPHENO:0054567", - "HP:0012745", - "HP:0000492", - "UPHENO:0075220", - "UPHENO:0086595", - "UPHENO:0046753", - "UBERON:0003103", - "UPHENO:0034770", - "HP:0001939", - "UPHENO:0050845", - "UBERON:0034923", - "UBERON:0000161", - "UPHENO:0084761", - "HP:0001872", - "UPHENO:0076761", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "HP:0012145", - "UPHENO:0002903", - "UPHENO:0081466", - "CL:0002092", - "HP:0020047", - "UPHENO:0020950", - "HP:0000581", - "UPHENO:0085344", - "UPHENO:0076779", - "UPHENO:0087123", - "UPHENO:0081788", - "UPHENO:0087355", - "CL:0000457", - "UBERON:0000064", - "CL:0000081", - "CL:0000763", - "HP:0031816", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "CL:0000233", - "UBERON:0013522", - "UBERON:0001710", - "UBERON:0019231", - "UBERON:0010364", - "UPHENO:0002948", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0085984", - "UPHENO:0063722", - "HP:0001881", - "GO:0016043", - "UPHENO:0015280", - "UPHENO:0075902", - "UPHENO:0087339", - "CL:0000458", - "UPHENO:0087089", - "CL:0000764", - "HP:0002715", - "UBERON:0001690", - "UPHENO:0086173", - "UPHENO:0077426", - "CL:0000255", - "UPHENO:0080099", - "CL:0000219", - "CL:0002242", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0032502", - "UPHENO:0002832", - "HP:0032251", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0075997", - "UBERON:0002371", - "CL:0000000", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "UPHENO:0085070", - "HP:0025354", - "UBERON:0000079", - "HP:0001871", - "UBERON:0000479", - "UPHENO:0079876", - "UBERON:0001007", - "HP:0025031", - "HP:0000347", - "UPHENO:0076803", - "HP:0009122", - "UPHENO:0081091", - "UPHENO:0080165", - "UBERON:0010313", - "CL:0000015", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0011595", - "HP:0011793", - "UBERON:0003135", - "HP:0009116", - "HP:0025033", - "UBERON:0004768", - "UPHENO:0081141", - "UBERON:0001684", - "UBERON:0015021", - "UBERON:0001708", - "UPHENO:0002896", - "GO:0043933", - "UBERON:0011158", - "HP:0034261", - "GO:0006725", - "UPHENO:0087501", - "UPHENO:0076800", - "UPHENO:0076692", - "UPHENO:0069249", - "UBERON:0012360", - "HP:0009118", - "GO:0071840", + "UPHENO:0046403", + "HP:0006501", + "UPHENO:0075195", + "UPHENO:0002786", + "UPHENO:0076754", + "UPHENO:0069194", + "HP:0009824", + "UPHENO:0001002", + "UPHENO:0012308", + "GO:0040007", + "UPHENO:0069163", "HP:0002813", "HP:0002818", - "HP:0000277", - "UPHENO:0046411", - "HP:0002664", - "UPHENO:0053644", - "UBERON:0007842", - "UPHENO:0087924", - "UBERON:0007914", - "HP:0011821", - "UBERON:0004088", - "UBERON:0000025", - "UPHENO:0081786", - "UBERON:0003457", - "GO:0050877", - "HP:0011927", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0001147", + "UBERON:0034923", + "UBERON:0000064", + "UBERON:0000323", + "UPHENO:0002949", + "UBERON:0005181", + "UPHENO:0002649", + "UPHENO:0002531", + "UPHENO:0069328", + "HP:0000126", + "UPHENO:0076779", + "HP:0001197", + "UBERON:0001224", + "UPHENO:0084132", + "UPHENO:0001134", + "UBERON:0008785", + "UPHENO:0002668", + "UPHENO:3000001", + "MPATH:1000", + "UPHENO:0087427", + "HP:0034242", + "UBERON:0000922", + "UBERON:0010538", + "UPHENO:0001478", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0004053", + "UBERON:0000473", + "UPHENO:0053563", + "UPHENO:0002597", + "UPHENO:0003055", + "UPHENO:0002682", + "UPHENO:0002685", + "UPHENO:0053566", + "UPHENO:0069266", + "UPHENO:0069674", + "HP:0000118", + "UPHENO:0002940", + "UBERON:0000079", + "UPHENO:0049620", + "UBERON:0000990", + "UPHENO:0063575", + "UBERON:0004176", + "UPHENO:0053561", + "HP:0012243", + "UBERON:0005156", + "HP:0000032", "UPHENO:0011498", "UBERON:0004381", "UPHENO:0046624", "HP:0009381", - "UBERON:0000466", - "UPHENO:0076805", - "UPHENO:0088168", - "UBERON:0002470", - "UBERON:0007827", - "OBI:0100026", - "UPHENO:0001072", - "UPHENO:0087907", - "UBERON:0034929", - "GO:0008150", - "UBERON:0006983", - "UBERON:0002268", - "GO:0031326", - "UPHENO:0065599", - "UPHENO:0084727", - "UPHENO:0087430", - "UPHENO:0084715", - "CL:0000300", - "HP:0012130", - "UPHENO:0041629", - "UBERON:0011143", - "UBERON:0005177", - "UBERON:0001008", - "UPHENO:0087427", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0041226", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0005173", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "UBERON:8450002", - "HP:0000085", - "UBERON:0001463", - "UBERON:0008962", - "UBERON:0008907", - "HP:0012210", - "GO:0006996", - "HP:0000079", - "GO:0048523", - "GO:0009889", - "HP:0003220", - "UPHENO:0050113", + "HP:0011927", + "UBERON:0012141", + "UPHENO:0046740", + "UBERON:0000991", + "UPHENO:0046750", + "UPHENO:0046426", + "UPHENO:0046741", + "UPHENO:0069236", + "UPHENO:0046411", + "UPHENO:0080369", + "UBERON:0014793", + "UPHENO:3000004", + "HP:0009603", + "UPHENO:0003093", + "HP:0009484", + "UPHENO:0084829", + "UPHENO:0005016", + "UBERON:0007100", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0004288", + "UPHENO:0002830", + "UPHENO:0046405", + "UBERON:0015228", + "UBERON:0015410", + "UPHENO:0050065", + "UBERON:0000915", + "UPHENO:0075949", + "MPATH:0", + "MPATH:603", + "UPHENO:0049874", + "GO:0010468", + "UPHENO:0012440", + "UPHENO:0000541", + "UPHENO:0080351", ], "has_phenotype_closure_label": [ - "Neoplasm of the skin", - "Pelvic kidney", - "Ectopic kidney", - "Abnormal reproductive system morphology", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "absent germ cell", - "external male genitalia", - "testis", - "Azoospermia", - "male gamete generation", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male germ cell", - "male gamete", - "Abnormal testis morphology", - "semen", - "reproduction", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormal external genitalia", - "reproductive process", - "abnormally localised anatomical entity in independent continuant", - "abnormal internal genitalia", - "external genitalia", - "internal genitalia", - "gonad", - "haploid cell", - "reproductive system", - "organism substance", - "abnormal gamete", - "sperm", - "abnormal location of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "absent gamete", - "germ cell", - "gamete", - "reproductive structure", - "decreased qualitatively developmental process", - "abnormal reproductive system morphology", - "decreased spermatogenesis", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "spermatogenesis", - "decreased developmental process", - "abnormal testis morphology", - "Cryptorchidism", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormality of reproductive system physiology", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", - "ear", - "abnormal developmental process", - "sensory perception", - "system process", - "multicellular organismal process", - "abnormality of anatomical entity physiology", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", + "Opisthokonta", + "Anorectal anomaly", + "rectum morphology phenotype", + "Abnormal intestine morphology", + "Rectal atresia", + "closing of the organ part", + "intestine morphology phenotype", + "intestine atresia", + "anatomical system atresia", + "subdivision of digestive tract atresia", + "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype", + "rectum atresia", + "organism", + "digestive system element", + "internal anal region", + "cellular organisms", + "Abnormal gastrointestinal tract morphology", + "organ part atresia", + "intestine", + "terminal part of digestive tract", + "rectum", + "Eumetazoa", + "alimentary part of gastrointestinal system", + "alimentary part of gastrointestinal system atresia", + "anus", + "material anatomical entity atresia", + "closing of the anatomical structure", + "digestive system phenotype", + "digestive tract", + "closing of the anatomical conduit", + "anus morphology phenotype", + "Abnormality of the anus", + "Abnormal anus morphology", + "ectoderm-derived structure phenotype", + "orifice", + "anatomical entity atresia", + "anus phenotype", + "orifice phenotype", + "Abnormality of the gastrointestinal tract", + "Abnormal digestive system morphology", + "root", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "Abnormality of the digestive system", + "closing of the ectoderm-derived structure", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "abnormal size of multicellular organism", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "abnormal reproductive process", - "regulation of macromolecule metabolic process", - "regulation of biosynthetic process", + "multicellular organism height phenotype", + "palmar/plantar part of autopod", + "anal region", + "muscle structure", + "large intestine", + "material anatomical entity", + "Abnormal skeletal muscle morphology", + "arm phenotype", + "thoracic cavity element", + "pectoral appendage musculature", + "musculature of upper limb", "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", + "subdivision of tube phenotype", + "musculature of limb phenotype", + "independent continuant", + "subdivision of skeletal system", + "entity", + "forelimb zeugopod bone morphology phenotype", + "autopod region morphology phenotype", + "absent organism subdivision in the multicellular organism", "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "organism", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Decreased head circumference", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "visual system", - "Abnormal skull morphology", - "Abnormal cellular immune system morphology", - "Abnormal cerebral morphology", - "arm bone", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "forebrain", - "regional part of nervous system", - "Narrow palpebral fissure", - "renal system", - "multi-tissue structure", - "main body axis", - "abnormal kidney morphology", - "craniocervical region", - "root", + "metabolic process", + "regulation of cellular biosynthetic process", + "closing of the subdivision of digestive tract", + "negative regulation of biological process phenotype", + "Abnormal cellular phenotype", + "negative regulation of gene expression phenotype", + "segment of autopod", + "reproductive system", + "muscle organ", + "musculature of pectoral complex", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "cell phenotype", + "programmed DNA elimination by chromosome breakage", + "cell", + "Abnormality of the upper limb", + "skeletal element", + "regulation of macromolecule biosynthetic process phenotype", + "zeugopod", + "regulation of biosynthetic process phenotype", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "Abnormality of chromosome stability", + "negative regulation of macromolecule metabolic process phenotype", + "increased size of the renal pelvis", + "homeostatic process", + "appendage girdle complex", + "digit phenotype", + "musculature phenotype", + "Abnormal finger morphology", + "organ phenotype", + "decreased length of manual digit", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "dilated renal pelvis", + "negative regulation of biological process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "occurrent", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "endochondral bone phenotype", + "Metazoa", + "Abnormal hand morphology", + "external soft tissue zone", + "skeletal system phenotype", + "digit plus metapodial segment", "appendage", - "abnormal nervous system", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "pigmentation", - "abnormal integument", - "Abnormality of skin pigmentation", + "anatomical entity phenotype", + "decreased length of organ", + "localised testis", + "musculoskeletal system", + "Absent thumb", + "bone of free limb or fin", + "cavitated compound organ phenotype", + "aplastic anatomical entity", + "All", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "manual digit morphology in the manus phenotype", + "forelimb zeugopod morphology phenotype", + "Upper limb undergrowth", + "skeleton of pectoral complex", + "paired limb/fin segment", + "absent multicellular anatomical structure", + "decreased length of endochondral bone", + "Eukaryota", + "negative regulation of cellular metabolic process", + "abdomen element", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "forelimb endochondral element", + "Phenotypic abnormality", + "negative regulation of gene expression", + "regulation of metabolic process phenotype", + "Abnormality of the urinary system physiology", + "bone element phenotype", + "pectoral complex", + "multi-limb segment region phenotype", + "regulation of macromolecule metabolic process", + "upper limb segment phenotype", + "endochondral element phenotype", + "manual digit 1 morphology phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "closing of the subdivision of tube", "skeleton of limb", - "aplasia or hypoplasia of skull", - "neural crest-derived structure", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "increased qualitatively biological_process in independent continuant", - "absent sperm", - "limb segment", - "biological_process", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "musculature of manus", + "anatomical entity morphology in the pectoral complex phenotype", + "absent anatomical structure in the forelimb", + "aplasia or hypoplasia of manual digit 1", + "bone of pectoral complex phenotype", + "absent anatomical structure", + "orifice atresia", + "appendicular skeleton", + "upper limb segment", + "external soft tissue zone phenotype", + "limb phenotype", + "paired limb/fin skeleton", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "subdivision of digestive tract phenotype", + "limb bone", + "embryo phenotype", "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "gamete generation", "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal immune system morphology", - "Abnormal myeloid cell morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", + "manual digit plus metapodial segment", + "Anal atresia", + "limb endochondral element", "agenesis of anatomical entity", - "telencephalon", - "digit", - "Hyperpigmentation of the skin", + "thenar eminence hypoplasia", "skeleton of manus", - "obsolete multicellular organism reproduction", - "cellular organisms", - "abnormal manus morphology", - "Absent thumb", - "abnormal autopod region morphology", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "Neoplasm", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "abnormal size of anatomical entity", - "abnormal phenotype by ontology source", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "abnormal cellular metabolic process", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", + "skeleton phenotype", + "palmar part of manus", + "Abnormal large intestine morphology", + "Aplasia/hypoplasia involving the skeleton", + "Abnormal limb bone morphology", "absent digit", - "phenotype", - "Abnormal cell morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "paired limb/fin", - "Hypoplasia of the radius", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", - "abnormal multicellular organismal reproductive process", + "arm", + "trunk region element physiology phenotype", + "male reproductive organ phenotype", + "autopodial extension phenotype", "manual digit", - "U-shaped anatomical entity", - "abnormal central nervous system morphology", - "abnormal reproductive system", - "abnormal kidney", - "Aplasia/Hypoplasia of the radius", - "subdivision of skeleton", - "endochondral bone", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "quality", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "anatomical system", - "lateral structure", - "abnormal limb bone morphology", - "entity", - "subdivision of skeletal system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "absent manual digit", - "decreased size of the mandible", - "organ system subdivision", - "decreased length of palpebral fissure", - "erythrocyte", - "abnormal blood cell", - "abnormal radius bone morphology", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "body proper", - "regulation of gene expression", - "pectoral appendage", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", + "Abnormal cardiovascular system morphology", + "continuant", + "absent material anatomical entity in the forelimb", + "late embryo phenotype", + "regulation of cellular process phenotype", + "forelimb zeugopod", + "Abnormal appendicular skeleton morphology", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "muscle organ morphology phenotype", + "autopod region phenotype", + "material anatomical entity phenotype", + "forelimb long bone phenotype", "skeletal system", - "motile cell", + "Hypoplasia of the radius", + "programmed DNA elimination by chromosome breakage phenotype", + "manus phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", "regulation of metabolic process", - "manual digit 1", "autopodial extension", - "abnormal face", - "zeugopod", - "skeletal element", - "abnormal anatomical entity morphology in the pectoral complex", - "upper limb segment", - "appendicular skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "organism subdivision", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "radius bone hypoplasia", - "subdivision of organism along appendicular axis", - "manual digit plus metapodial segment", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "dermatocranium", - "pectoral complex", - "trunk region element", - "radius endochondral element", - "material anatomical entity", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "Squamous cell carcinoma", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "mesoderm-derived structure phenotype", + "bone element", + "regulation of biological process", + "digit 1 phenotype", + "lateral structure", "mesoderm-derived structure", - "abnormality of ear physiology", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "hematopoietic system", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", + "Stage 5 chronic kidney disease", + "closing of the multicellular anatomical structure", + "organ system subdivision", + "thenar eminence phenotype", + "musculature", + "Abnormality of the thenar eminence", + "number of anatomical enitites of type organism subdivision phenotype", + "limb endochondral element phenotype", + "anatomical structure", + "paired limb/fin phenotype", + "absent multicellular anatomical structure in the multicellular organism", + "anatomical conduit phenotype", + "taxon specific phenotype", + "Abnormal rectum morphology", + "absent manual digit", + "Abnormal thumb morphology", + "subdivision of trunk", + "limb segment", + "forelimb morphology phenotype", + "musculature of limb", + "Abnormal cellular physiology", + "cardiovascular system", + "male reproductive system phenotype", + "aplastic manual digit 1", + "anatomical entity morphology in the manus phenotype", + "anatomical system", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "lower digestive tract", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "subdivision of digestive tract", + "regulation of cellular biosynthetic process phenotype", + "limb bone morphology phenotype", + "decreased size of the forelimb endochondral element", + "renal pelvis", + "forelimb", "Abnormal skeletal morphology", + "pathological phenotype observation", "decreased size of the anatomical entity in the pectoral complex", + "digit 1 or 5", "autopodial skeleton", - "Abnormal facial skeleton morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "endochondral element", - "multi-limb segment region", - "appendicular skeletal system", + "Aplasia/Hypoplasia of the thumb", "system", - "bone marrow cell", - "Aplasia/hypoplasia involving bones of the hand", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "decreased qualitatively biological_process", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal craniocervical region morphology", - "continuant", - "absent sperm in the semen", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "Abnormality of the ocular adnexa", - "abnormally localised anatomical entity", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "skeleton", - "increased size of the anatomical entity", - "limb", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "abnormal nervous system morphology", - "abnormal cell morphology", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", - "Abnormality of the genitourinary system", - "blood cell", - "head bone", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "forelimb zeugopod skeleton", - "facial skeleton", - "bone of appendage girdle complex", - "aplastic manual digit 1", - "dentary", - "segment of autopod", - "organic cyclic compound metabolic process", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "arm", - "abnormal nose morphology", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", - "postcranial axial skeletal system", - "abnormal digit morphology", - "skeleton of lower jaw", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "eye", - "compound organ", + "regulation of gene expression phenotype", + "bone of appendage girdle complex phenotype", + "Abnormality of prenatal development or birth", + "trunk region element", + "decreased size of the manual digit", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "paired limb/fin segment phenotype", + "ectoderm-derived structure", + "decreased length of limb bone", + "Abnormal digit morphology", + "negative regulation of cellular process", + "forelimb skeleton", + "genitourinary system", + "renal pelvis phenotype", + "anatomical entity", + "phenotypic effect", + "size of anatomical entity phenotype", + "Proximal placement of thumb", + "alimentary part of gastrointestinal system phenotype", + "pectoral appendage skeleton", + "forelimb endochondral element phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "biological regulation", + "abdominal segment of trunk", + "manus", + "thenar eminence", + "Abnormality of limbs", + "regulation of gene expression", + "pectoral appendage", + "Abnormality of the musculoskeletal system", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "multicellular organism morphology phenotype", + "absent multicellular anatomical structure in the limb", + "Abnormality of the musculature of the limbs", + "anatomical structure physiology phenotype", + "digit morphology phenotype", "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal mouth", - "forelimb zeugopod", - "cranial skeletal system", - "Abnormality of head or neck", - "abnormal head morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "postcranial axial skeleton", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "tissue", + "anatomical conduit atresia", + "Deviation of finger", + "Abnormality of the skeletal system", "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb long bone", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "forelimb", - "Abnormal forebrain morphology", - "abnormal limb morphology", - "anatomical conduit", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "sensory system", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "axial skeletal system", - "Growth abnormality", + "homeostatic process phenotype", + "Abnormal renal pelvis morphology", + "Aplasia/hypoplasia of the extremities", + "Short stature", + "digit 1", "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Abnormal localization of kidney", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", + "Abnormality of the musculature", + "number of anatomical enitites of type material anatomical entity phenotype", + "thoracic segment of trunk", + "limb bone phenotype", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "absent organism subdivision", + "autopod region", + "decreased length of bone of pectoral complex", + "skeleton", + "anatomical collection phenotype", + "quality", + "absent anatomical structure in the limb", + "decreased length of mesoderm-derived structure", + "negative regulation of macromolecule metabolic process", + "abdominal segment element", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "Deviation of the thumb", + "regulation of biosynthetic process", + "bone of appendage girdle complex", + "absent anatomical entity", + "process", + "Abnormality of metabolism/homeostasis", + "limb morphology phenotype", + "biological regulation phenotype", + "intestine phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "external male genitalia", + "organism subdivision", + "limb segment phenotype", + "digit 1 or 5 phenotype", + "digestive system", + "anatomical entity morphology phenotype", + "obsolete cell", + "decreased length of long bone", + "programmed DNA elimination", + "spatial pattern of anatomical entity phenotype", + "subdivision of tube atresia", + "multi-limb segment region", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "musculature of pectoral complex phenotype", + "decreased length of anatomical structure", + "musculature of manus phenotype", + "trunk", + "Abnormality of the musculature of the hand", + "appendage musculature", + "manus morphology phenotype", + "musculature of upper limb phenotype", + "Abnormality of the musculature of the upper limbs", + "compound organ physiology phenotype", + "Small thenar eminence", + "abdomen element physiology phenotype", + "pectoral appendage musculature phenotype", + "digit 1 plus metapodial segment", + "Abnormal renal physiology", + "Intestinal atresia", + "arm bone", + "kidney physiology phenotype", + "radius endochondral element", + "anatomical system physiology phenotype", + "abdominal segment element physiology phenotype", + "localised anatomical structure", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "cavitated compound organ physiology phenotype", + "decreased size of the organ", + "decreased size of the endochondral bone", + "Chronic kidney disease", + "renal system phenotype", + "multicellular anatomical structure physiology phenotype", + "body proper", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", + "male organism", + "renal system physiology phenotype", + "multicellular anatomical structure phenotype", + "Renal insufficiency", + "Abnormality of the kidney", + "material anatomical entity physiology phenotype", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "multicellular anatomical structure atresia", + "excretory system", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "absent autopodial extension", + "Fetal ultrasound soft marker", + "closing of the material anatomical entity", + "circulatory system", + "subdivision of organism along main body axis", + "main body axis", + "localised multicellular anatomical structure", + "lateral structure physiology phenotype", + "renal system", + "digestive system morphology phenotype", + "Abnormality of the urinary system", + "renal/urinary system phenotype", + "anatomical entity hypoplasia", + "forelimb bone", + "upper urinary tract phenotype", + "decreased length of digit 1 or 5", + "decreased length of forelimb bone", + "decreased length of bone element", + "limb long bone morphology phenotype", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "forelimb long bone", + "Abnormal forearm morphology", + "testis phenotype", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "structure with developmental contribution from neural crest", + "Abnormality of the hand", + "radius bone", + "heart", + "Limb undergrowth", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "decreased length of skeletal element", + "decreased size of the material anatomical entity", + "decreased size of the long bone", + "forelimb zeugopod bone hypoplasia", + "decreased size of the bone of pectoral complex", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Hydronephrosis", + "decreased length of organism subdivision", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "Abnormal testis morphology", + "cardiovascular system phenotype", + "decreased size of the bone of free limb or fin", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased size of the limb bone", + "multi-tissue structure", + "limb long bone phenotype", + "forelimb zeugopod bone", + "decreased length of manual digit 1 or 5", + "decreased length of multicellular anatomical structure", "kidney", - "abnormal biological_process", "Growth delay", - "digestive system element", - "delayed growth", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "Abnormality of the face", - "multi organ part structure", - "hemolymphoid system", - "organ part", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormality of the orbital region", - "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "orbital region", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "Vitiligo", + "radius bone phenotype", + "decreased length of digit 1", + "alimentary part of gastrointestinal system morphology phenotype", + "decreased length of forelimb zeugopod bone", "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal bone of pectoral complex morphology", - "orifice", - "ocular adnexa", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal immune system", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "sensory perception of mechanical stimulus", - "skin of body", + "decreased size of the limb endochondral element", + "appendage musculature phenotype", + "forelimb bone phenotype", + "decreased length of limb endochondral element", + "Short forearm", + "delayed biological_process", + "decreased length of material anatomical entity", "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", - "obsolete cell", - "decreased length of long bone", - "digestive system", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal hematopoietic system morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "regulation of macromolecule biosynthetic process", - "multicellular organism", - "Thrombocytopenia", - "Abnormality of the immune system", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cavitated compound organ", - "Abnormal leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "abnormal hematopoietic system", - "digit 1", - "abnormal platelet morphology", - "aplasia or hypoplasia of mandible", - "nucleobase-containing compound metabolic process", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "subdivision of tube", - "Aplasia/Hypoplasia involving bones of the skull", - "mouth", - "abnormal mandible morphology", - "anatomical entity hypoplasia in face", - "abnormal jaw skeleton morphology", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", - "abnormal male reproductive system", - "abnormal mouth morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "Abnormality of body height", - "tube", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal digit", - "lower jaw region", - "abnormal primary metabolic process", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", + "closing of the anatomical system", + "decreased size of the arm bone", + "decreased size of the bone of appendage girdle complex", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "bone of pectoral complex morphology phenotype", + "negative regulation of metabolic process phenotype", + "Short finger", + "organ", + "decreased size of the anatomical structure", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the endochondral element", + "decreased length of forelimb endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "long bone phenotype", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "increased size of the anatomical structure", + "primary circulatory organ", + "localised organ", + "thoracic segment organ", + "renal pelvis/ureter", + "phenotype", + "Fetal pyelectasis", + "embryonic development/birth phenotype", + "Abnormal fetal genitourinary system morphology", + "organ part", + "external genitalia phenotype", + "multicellular organism phenotype", + "decreased length of autopodial extension", + "organ part phenotype", + "Abnormal renal morphology", + "increased size of the organ part", + "Fetal anomaly", + "renal pelvis morphology phenotype", + "anatomical cluster", + "manual digitopodium region", + "Abnormality of the male genitalia", + "upper urinary tract", + "decreased length of digit", + "anatomical conduit", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Dilatation of the renal pelvis", + "Gastrointestinal atresia", + "late embryo", + "limb", + "increased size of the anatomical entity", + "increased size of the material anatomical entity", + "biological_process", + "genitourinary system phenotype", + "dilated anatomical entity", + "embryo", + "increased size of the anatomical conduit", + "anus atresia", + "Short long bone", + "reproductive organ", + "Abnormal fetal morphology", + "increased size of the multicellular anatomical structure", + "decreased length of bone of appendage girdle complex", + "Abnormal male external genitalia morphology", "Abnormality of the genital system", - "intramembranous bone", - "structure with developmental contribution from neural crest", - "bone of craniocervical region", - "abnormal head bone morphology", - "abnormal manus", - "bone element hypoplasia in face", - "Short finger", + "testis", + "large intestine morphology phenotype", + "localised reproductive structure", + "reproductive system phenotype", + "Cryptorchidism", + "heart plus pericardium", + "subdivision of tube", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "reproductive structure phenotype", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "external genitalia", + "disconnected anatomical group", + "male reproductive organ", + "gonad phenotype", + "reproductive structure", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "external male genitalia phenotype", + "decreased size of the organism subdivision", "anterior region of body", "decreased length of manual digit 1", + "rectum phenotype", + "paired limb/fin", + "decreased size of the digit", + "Short thumb", "Short digit", - "Abnormal nasal tip morphology", - "Abnormal external nose morphology", - "anatomical point", - "olfactory organ", - "Abnormality of the nose", - "entire sense organ system", - "abnormal external nose morphology", - "immaterial anatomical entity", - "nose", - "aplastic anatomical entity", - "Bulbous nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "abnormal erythrocyte morphology", + "decreased size of the forelimb bone", + "deviation of manual digit 1", "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "3-D shape anatomical entity", - "abnormal renal system", - "concave 3-D shape anatomical entity", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "excretory system", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "upper urinary tract", - "Abnormality of the kidney", - "Horseshoe kidney", - "abnormal renal system morphology", - "developmental process", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "shape kidney", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "abnormal pigmentation", - "Abnormality of the head", - "organic substance metabolic process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "cellular component organization", + "Deviation of the hand or of fingers of the hand", + "deviation of manual digit", + "Growth abnormality", + "cardiovascular system morphology phenotype", + "decreased size of the skeletal element", + "reproductive organ phenotype", + "viscus", + "circulatory organ", + "heart morphology phenotype", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", + "tube", + "Abnormality of body height", + "size of multicellular organism phenotype", + "arm bone phenotype", + "delayed growth", + "number of anatomical enitites of type anatomical structure phenotype", + "decreased size of the multicellular organism", + "regulation of cellular process", + "decreased height of the anatomical entity", + "growth phenotype", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", ], }, { - "id": "MONDO:0013248", + "id": "MONDO:0013499", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "name": "Fanconi anemia complementation group P", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": ["DOID:0111092", "GARD:15731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"], "synonym": [ - "FANCO", - "Fanconi Anemia, complementation group type O", - "Fanconi anaemia caused by mutation in RAD51C", - "Fanconi anaemia caused by mutation in Rad51C", - "Fanconi anaemia complementation group type O", - "Fanconi anemia caused by mutation in RAD51C", - "Fanconi anemia caused by mutation in Rad51C", - "Fanconi anemia complementation group type O", - "Fanconi anemia, complementation group O", - "RAD51C Fanconi anaemia", - "RAD51C Fanconi anemia", - "Rad51C Fanconi anaemia", - "Rad51C Fanconi anemia", + "FANCP", + "Fanconi Anemia, complementation group type P", + "Fanconi anaemia caused by mutation in SLX4", + "Fanconi anaemia caused by mutation in Slx4", + "Fanconi anaemia complementation group type P", + "Fanconi anemia caused by mutation in SLX4", + "Fanconi anemia caused by mutation in Slx4", + "Fanconi anemia complementation group type P", + "Fanconi anemia, complementation group P", + "SLX4 Fanconi anaemia", + "SLX4 Fanconi anemia", + "Slx4 Fanconi anaemia", + "Slx4 Fanconi anemia", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0002984", "HP:0009777", - "HP:0001627", - "HP:0001245", - "HP:0002023", - "HP:0000126", + "HP:0002860", + "HP:0000252", + "HP:0002984", + "HP:0000581", + "HP:0001876", + "HP:0000347", "HP:0000028", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", - "HP:0004322", - "HP:0003774", - "HP:0025023", - ], - "has_phenotype_label": [ - "Chromosome breakage", - "Hypoplasia of the radius", - "Absent thumb", - "Abnormal heart morphology", - "Small thenar eminence", - "Anal atresia", - "Hydronephrosis", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", - "Short stature", - "Stage 5 chronic kidney disease", - "Rectal atresia", - ], - "has_phenotype_count": 15, - "has_phenotype_closure": [ - "HP:0012732", - "UBERON:0012361", - "UPHENO:0002714", - "UPHENO:0026506", - "UBERON:0019221", - "NCBITaxon:2759", - "UBERON:5001463", - "UPHENO:0009382", - 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"UPHENO:0002816", + "UPHENO:0002870", + "UPHENO:0002525", + "UPHENO:0075804", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0001135", + "HP:0012443", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002616", + "HP:0000707", + "UPHENO:0086595", + "UPHENO:0075220", "HP:0025354", - "UPHENO:0050121", - "UBERON:0010740", - "UPHENO:0081792", - "HP:0000126", - "CL:0000300", - "HP:0000083", - "UPHENO:0005597", - "UBERON:0002428", + "UPHENO:0002738", + "UPHENO:3000003", + "UPHENO:0068898", + "UPHENO:0001360", + "UPHENO:0046531", + "UBERON:0001423", + "UBERON:0004456", + "UPHENO:0046554", + "UPHENO:0046505", + "UPHENO:0068921", + "UPHENO:3000004", + "UBERON:0034921", + "UPHENO:0002750", + "HP:0005773", + "UPHENO:0069674", + "UPHENO:0069266", + "UPHENO:0086956", + "UPHENO:0079872", + "UPHENO:0046594", + "UPHENO:0069030", + "UPHENO:0008668", + "UPHENO:0068971", + "UPHENO:0069292", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0003113", + "UPHENO:0069254", + "UBERON:0003466", + "UPHENO:0050007", + "UPHENO:0053601", + "HP:0003026", + "HP:0001045", + "HP:0040070", + "UBERON:0003607", + "UPHENO:0046460", "UPHENO:0012274", - "UBERON:0002113", - "UPHENO:0049990", - "RO:0002577", - "HP:0010461", - "UBERON:5002389", - "BFO:0000003", - "PR:000050567", - "GO:0010556", + "UPHENO:0002594", + "HP:0006503", + "UBERON:0002104", + "UBERON:0003462", + "UPHENO:0046465", + "UPHENO:0002942", + "UBERON:0002405", + "UBERON:0003606", + "HP:0011314", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0003278", "UBERON:0007272", - "UPHENO:0088142", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0087802", + "UPHENO:0046396", + "UPHENO:0081313", + "UPHENO:0069064", + "UBERON:0003135", + "HP:0009116", + "UPHENO:0049757", + "UPHENO:0069125", + "UBERON:0001015", + "UPHENO:0069062", + "GO:0010468", + "UPHENO:0000541", + "UPHENO:0012440", + "HP:0009118", "UBERON:0010912", + "UPHENO:0046479", "HP:0040072", - "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "UPHENO:0086172", - "UBERON:0000059", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0010758", - "UBERON:0001555", - "UPHENO:0087846", - "UBERON:0002470", - "UPHENO:0081790", - "UPHENO:0050108", - "HP:0000107", - "UBERON:0012140", - "UPHENO:0002803", - "UBERON:0005172", - "UBERON:0001440", - "HP:0040070", - "UBERON:0012475", - "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0081433", - "UPHENO:0002442", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "HP:0005922", - "UPHENO:0026183", - "UPHENO:0084771", - "UBERON:0005178", - "UPHENO:0049701", - "UPHENO:0081313", - "UBERON:0012139", - "UBERON:0000948", - "UBERON:0002398", - "UPHENO:0086128", - "UBERON:0009569", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "UBERON:0000915", - "UBERON:0005181", - "UPHENO:0080362", - "NCBITaxon:6072", - "UPHENO:0076776", - "UBERON:0001009", - "UBERON:0003103", - "UBERON:0015410", - "UPHENO:0076803", - "UBERON:0004489", + "UPHENO:0003025", + "UBERON:0000020", + "UPHENO:0075944", + "UPHENO:0046540", + "UBERON:0000955", + "UBERON:0010703", + "UPHENO:0002694", + "HP:0009826", "UBERON:0002471", - "UPHENO:0081755", - "UBERON:0034925", - "HP:0001421", - "HP:0011844", - "HP:0001227", - "UPHENO:0002832", - "GO:0032502", - "UPHENO:0063632", - "UPHENO:0002816", - "UBERON:0011143", - "UPHENO:0053580", - "GO:0006325", - "UPHENO:0063639", - "UPHENO:0002655", - "HP:0003011", - "UBERON:0006048", - "UBERON:0007271", - "HP:0001245", - "HP:0004378", - "UBERON:0007269", - "UBERON:0004480", - "HP:0009127", - "UBERON:0000383", - "HP:0001446", - "UBERON:0000161", - "UPHENO:0084841", - "UBERON:0004481", - "HP:0025031", - "UBERON:0036295", - "UBERON:0004907", - "UPHENO:0079876", - "UBERON:0001007", - "UPHENO:0063599", - "UPHENO:0084448", - "UBERON:0001245", - "HP:0011793", - "HP:0034915", - "HP:0025033", - "HP:0011805", - "UPHENO:0086682", - "UPHENO:0046505", - "UPHENO:0086644", - "HP:0009380", - "UPHENO:0074228", - "UBERON:0000990", - "HP:0000924", - "UBERON:0004121", - "GO:0006807", - "UPHENO:0002839", - "UBERON:0000025", - "UBERON:0034929", - "HP:0002250", - "UPHENO:0015280", - "GO:0016043", - "UPHENO:0075902", - "HP:0010945", - "UPHENO:0075949", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0084132", - "UPHENO:0076718", - "UPHENO:0005651", - "UBERON:0000064", - "UBERON:0001008", - "OBI:0100026", - "UPHENO:0001072", - "HP:0003241", - "HP:0010935", - "UPHENO:0049940", - "UPHENO:0076779", - "UBERON:0010538", - "UPHENO:0001478", - "HP:0010946", - "GO:0048609", - "GO:0003006", - "UPHENO:0080382", - "UBERON:0002417", - "UBERON:0005173", - "UBERON:0000323", - "HP:0034058", - "GO:0031326", - "UPHENO:0065599", - "UBERON:8450002", - "UBERON:0000916", - "HP:0001197", - "UBERON:0001224", - "UPHENO:0087346", - "UPHENO:0084124", - "HP:0000119", - "UBERON:0007100", - "UPHENO:0005016", - "UPHENO:0087427", - "HP:0034242", - "UBERON:0034923", - "UPHENO:0084834", - "UBERON:0004054", - "UBERON:0000922", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "HP:0000028", - "UPHENO:0081423", - "UBERON:0008878", - "UBERON:0005409", - "UPHENO:0080369", - "CL:0000586", - "UPHENO:0002598", - "HP:0001627", - "UPHENO:0049970", - "GO:0007276", - "GO:0007283", - "CL:0000408", - "UBERON:0000481", - "UBERON:0000079", - "GO:0050794", - "UPHENO:0085875", - "UBERON:0014793", - "HP:0009603", - "UBERON:0004111", - "UPHENO:0080377", - "UPHENO:0049985", - "GO:0000003", - "UBERON:0001968", - "UBERON:0005177", - "HP:0011277", - "HP:0000032", - "UPHENO:0085194", - "HP:0001172", + "UPHENO:0002926", + "UPHENO:0075198", + "UPHENO:0068912", + "UPHENO:0086172", + "UPHENO:0077418", + "UBERON:0002389", + "UPHENO:0087349", + "UBERON:0000468", + "UPHENO:0046538", + "UPHENO:0046445", + "UPHENO:0002523", + "UPHENO:0002637", + "UPHENO:0046392", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0004111", + "UPHENO:0063794", + "UPHENO:0076791", + "UPHENO:0046403", + "HP:0009821", + "UPHENO:0076754", + "UPHENO:0069194", + "HP:0009824", "UBERON:0011676", + "HP:0001172", "HP:0002973", - "HP:0000025", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0015228", - "CL:0000015", - "HP:0008669", - "UBERON:0003606", - "UPHENO:0021561", - "HP:0000811", - "UPHENO:0003055", - "UPHENO:0086201", - "HP:0010944", - "UPHENO:0086023", - "HP:0001510", - "UPHENO:0053298", - "UBERON:0001052", - "UBERON:0005090", - "HP:0000078", - "HP:0012622", - "UBERON:0010712", - "HP:0000080", - "UPHENO:0077426", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0002597", - "CL:0000413", - "CL:0000039", - "UBERON:0000991", - "HP:0011024", + "CL:0001035", + "UPHENO:0001002", + "UPHENO:0012308", + "GO:0040007", + "UPHENO:0069163", + "UBERON:0004756", + "HP:0002692", + "UPHENO:0080200", + "HP:0200007", + "UPHENO:0076761", + "UBERON:0008785", + "UPHENO:0002668", + "UBERON:0034923", + "HP:0000125", + "UPHENO:0002910", + "UPHENO:0053571", + "HP:0000271", + "UBERON:0001474", + "CL:0000329", "UBERON:0011216", - "UBERON:0004175", - "UBERON:0004176", - "UPHENO:0086198", - "UPHENO:0049367", - "UPHENO:0085873", - "UBERON:0000473", + "UPHENO:0002812", + "HP:0000315", + "UPHENO:0002531", + "UPHENO:0002593", + "UBERON:0000161", + "UPHENO:0084761", + "HP:0001872", + "UBERON:0000025", + "UBERON:0004088", + "UPHENO:0049642", + "UBERON:0001456", + "UPHENO:0003085", + "UPHENO:0049703", + "UBERON:0001819", + "UPHENO:0003069", + "HP:0030669", + "UPHENO:0063722", + "HP:0001881", + "HP:0002715", + "HP:0020047", + "UPHENO:0077348", + "UBERON:0001690", + "UPHENO:0002736", + "UPHENO:0086173", + "UPHENO:0002818", + "HP:0012145", + "UPHENO:0002994", + "UPHENO:0085371", + "HP:0011875", + "UPHENO:0085302", + "UPHENO:0080099", + "CL:0000219", + "UPHENO:0041465", + "UPHENO:0002772", + "UPHENO:0069046", + "CL:0002242", + "CL:0000255", + "UPHENO:0075997", + "UBERON:0002371", + "HP:0000581", + "UPHENO:0002733", + "UPHENO:0085344", + "CL:0000458", + "CL:0000764", + "UPHENO:0068932", + "UPHENO:0063787", + "UPHENO:0068941", + "UBERON:0000079", + "HP:0001871", + "UPHENO:0002948", + "CL:0000233", + "UBERON:0019231", + "UBERON:0010364", + "UPHENO:0002903", + "UPHENO:0081466", + "CL:0002092", + "UPHENO:0077391", "UBERON:0004053", - "UBERON:0004122", - "UPHENO:0002595", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0076735", - "UPHENO:0078452", - "HP:0012243", - "UBERON:0005156", - "UPHENO:0046411", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "UPHENO:0046707", - "HP:0009381", - "UPHENO:0084829", - "HP:0004097", - "UPHENO:0050101", - "UBERON:0001353", - "HP:0009623", - "HP:0009484", - "HP:0001507", - "UBERON:0003466", - "UPHENO:0069254", - "GO:0010468", - "UPHENO:0000541", - "UPHENO:0000543", - "UBERON:0013522", - "UPHENO:0080351", - "UPHENO:0049874", - "UPHENO:0076740", - "HP:0100871", - "HP:0000002", - "HP:0012211", - "UPHENO:0002411", - "HP:0003774", - "UPHENO:0076773", - "UPHENO:0063629", - "HP:0002589", - "NCBITaxon:1", - "HP:0011100", - "NCBITaxon:33154", - "UPHENO:0002725", - "HP:0012718", + "UBERON:0000479", + "UPHENO:0079876", + "UBERON:0001007", + "CL:0000457", + "UBERON:0000064", + "CL:0000081", + "CL:0000763", + "HP:0031816", + "UPHENO:0053633", + "UBERON:0010314", + "HP:0001873", + "HP:0005561", + "HP:0010987", + "HP:0011893", + "UPHENO:0053644", + "UPHENO:0046397", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "GO:0042592", + "UPHENO:0049743", + "UPHENO:0081786", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0002813", + "UPHENO:0002732", + "HP:0002818", + "HP:0000277", + "UBERON:0011158", + "UPHENO:0087501", + "UPHENO:0076800", + "UPHENO:0002550", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", + "UBERON:0003457", + "UPHENO:0002832", + "UPHENO:0080010", + "HP:0032251", + "UPHENO:0002988", + "HP:0034261", "HP:0009777", "UBERON:0004921", - "UBERON:0000160", - "HP:0025023", - "HP:0002034", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0002971", + "UPHENO:0088116", + "UPHENO:0002838", + "HP:0009122", + "UPHENO:0049904", + "HP:0025031", + "HP:0000347", + "UPHENO:0076803", + "UPHENO:0002815", + "UBERON:0010313", + "UBERON:0004288", + "UPHENO:0002830", + "UPHENO:0046405", + "UBERON:0011595", + "UBERON:0012360", + "HP:0011821", + "UBERON:0001710", + "UBERON:0013522", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0000473", + "UPHENO:0053563", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UPHENO:0003055", ], "has_phenotype_closure_label": [ - "Anorectal anomaly", - "rectum atresia", - "Rectal atresia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "internal anal region", - "abnormal rectum", - "Metazoa", - "lower digestive tract", - "intestine", - "rectum", - "large intestine", - "Morphological abnormality of the gastrointestinal tract", - "abnormal alimentary part of gastrointestinal system", - "subdivision of tube", - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormality of the gastrointestinal tract", - "Abnormal renal physiology", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", - "Chronic kidney disease", - "Abnormality of the urinary system physiology", - "Abnormality of body height", + "ear", + "sensory perception", + "sense organ physiology phenotype", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "material anatomical entity physiology phenotype", + "Abnormal ear physiology", + "sensory perception of sound", + "multicellular organismal process", + "decreased sensory perception of sound", + "decreased qualitatively system process", + "nervous system process phenotype", + "decreased qualitatively sensory perception of sound", + "multicellular organismal process phenotype", + "sensory perception phenotype", + "Hearing abnormality", + "system process", + "decreased qualitatively sensory perception of mechanical stimulus", + "multicellular anatomical structure physiology phenotype", + "ear physiology phenotype", + "vestibulo-auditory system", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "nervous system process", + "Hearing impairment", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "Short stature", + "size of multicellular organism phenotype", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", + "regulation of biological process", + "programmed DNA elimination by chromosome breakage", + "negative regulation of gene expression", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal cellular physiology", + "negative regulation of cellular process phenotype", "decreased height of the anatomical entity", - "digestive system element", + "regulation of cellular process", + "negative regulation of biological process", + "negative regulation of macromolecule metabolic process phenotype", + "3-D shape anatomical entity", + "concave 3-D shape anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", + "decreased size of the anatomical conduit", + "decreased length of ectoderm-derived structure", + "decreased length of palpebral fissure", + "decreased sensory perception", + "decreased length of orifice", + "erythroid lineage cell morphology phenotype", + "Abnormal skin morphology", + "increased biological_process", + "biological_process rate phenotype", + "pigmentation", + "increased qualitatively biological_process", + "Localized skin lesion", + "Hypermelanotic macule", + "Hyperpigmentation of the skin", + "regulation of cellular metabolic process", + "pigmentation phenotype", + "Cafe-au-lait spot", + "Macule", + "nose phenotype", + "increased size of the multicellular anatomical structure", + "Abnormality of the nose", + "nose", + "increased size of the organ", + "olfactory organ", + "immaterial anatomical entity", + "external nose morphology phenotype", + "increased size of the sense organ", + "Abnormal nasal tip morphology", + "nose tip morphology phenotype", + "increased size of the anatomical structure", + "external nose", + "increased size of the organism subdivision", + "sense organ phenotype", + "Abnormality of chromosome stability", + "immaterial entity", + "increased volume of nose", + "Abnormal external nose morphology", + "upper urinary tract phenotype", + "abdomen element phenotype", + "renal system", + "excretory system", + "trunk", + "abdominal segment element", + "Abnormality of the kidney", + "localised cavitated compound organ", + "localised lateral structure", + "negative regulation of gene expression phenotype", + "localised compound organ", + "Chromosome breakage", + "trunk region element phenotype", + "compound organ phenotype", + "biological regulation", + "abdominal segment of trunk", + "localised trunk region element", + "Abnormal localization of kidney", + "cavitated compound organ phenotype", + "renal system phenotype", + "Abnormal renal morphology", + "Abnormality of the upper urinary tract", + "abdomen element", + "process", + "occurrent", + "growth phenotype", + "kidney", "Growth delay", - "growth", - "decreased size of the multicellular organism", - "Renal cyst", - "intestine atresia", - "Proximal placement of thumb", - "deviation of manual digit", + "delayed biological_process", + "trunk region element", + "decreased size of the manual digit", + "decreased length of digit 1", "Short digit", - "Eumetazoa", - "Eukaryota", + "decreased length of manual digit 1 or 5", + "Short thumb", "decreased length of manual digit", - "decreased length of manual digit 1", + "decreased size of the organism subdivision", + "negative regulation of metabolic process phenotype", "Short finger", - "Abnormality of the genital system", - "abnormal reproductive system", - "internal male genitalia", - "testis", - "abnormally localised testis", - "Azoospermia", - "Abnormality of the male genitalia", + "multicellular organism phenotype", + "decreased length of anatomical conduit", + "external genitalia phenotype", + "Abnormal external genitalia", + "localised testis", + "external male genitalia phenotype", + "male reproductive organ phenotype", + "Irregular hyperpigmentation", "male organism", - "obsolete multicellular organism reproduction", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "male germ cell", - "abnormality of multicellular organism height", - "male gamete", - "semen", - "absent anatomical entity in the semen", - "abnormal multicellular organismal reproductive process", - "developmental process", - "reproductive process", - "abnormal number of anatomical enitites of type sperm", - "abnormally localised anatomical entity in independent continuant", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormal internal genitalia", - "abnormal number of anatomical enitites of type cell", - "external genitalia", - "internal genitalia", - "gonad", - "organism substance", - "abnormal gamete", - "sperm", - "reproduction", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", - "absent gamete", - "germ cell", - "Abnormality of reproductive system physiology", - "gamete", "reproductive structure", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "male reproductive system", - "spermatogenesis", - "gamete generation", - "abnormally localised anatomical entity", - "abnormal male reproductive system", - "decreased developmental process", - "reproductive organ", - "developmental process involved in reproduction", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal spermatogenesis", - "absent germ cell", - "changed biological_process rate", - "abnormal renal system morphology", - "abnormally dilated renal pelvis", - "abnormal late embryo", - "Fetal pyelectasis", - "renal pelvis/ureter", - "Abnormal renal pelvis morphology", - "Abnormal fetal morphology", - "multi-tissue structure", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of the kidney", - "embryo", - "renal pelvis", - "kidney", - "sexual reproduction", - "abnormal genitourinary system", - "decreased length of digit", - "anatomical cluster", - "increased size of the anatomical entity in independent continuant", - "late embryo", - "abdominal segment of trunk", - "abnormal renal pelvis", - "abdomen", - "disconnected anatomical group", - "Abnormality of prenatal development or birth", - "Abnormal fetal genitourinary system morphology", - "abnormal renal system", - "Abnormal renal morphology", - "renal system", - "organ part", - "increased size of the renal pelvis", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", - "abnormal external male genitalia", - "Fetal anomaly", - "upper urinary tract", - "Anal atresia", - "Dilatation of the renal pelvis", - "anus atresia", - "anus", - "abnormal digestive system", - "abnormal closing of the anatomical entity", - "Neoplasm by anatomical site", - "deviation of manual digit 1", - "digestive tract", - "abnormal digestive system morphology", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "abnormal anus", - "multicellular organismal reproductive process", - "anatomical conduit", - "digestive system", - "Abnormality of the musculature of the limbs", - "musculature of manus", - "abnormal musculature of limb", - "cavitated compound organ", - "abnormal musculature of upper limb", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "tube", - "abnormal muscle organ morphology", - "Abnormality of the musculature of the hand", - "musculature of body", - "haploid cell", - "appendage musculature", - "Abnormality of the musculature of the upper limbs", - "Abnormal rectum morphology", + "localised material anatomical entity", + "genitourinary system", + "reproductive system", + "gonad phenotype", + "reproductive system phenotype", + "external genitalia", + "localised abdomen element", "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "Abnormal palm morphology", - "musculature", - "Abnormality of the thenar eminence", - "germ line cell", - "thenar eminence hypoplasia", - "abnormal musculature", - "musculature of upper limb", - "excretory system", - "Fetal ultrasound soft marker", - "circulatory system", - "abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "delayed growth", - "abnormal cardiovascular system", - "Abnormal heart morphology", - "circulatory organ", - "viscus", - "Gastrointestinal atresia", - "trunk", - "decreased spermatogenesis", - "abnormal kidney morphology", + "localised male reproductive organ", + "localised organ", + "multicellular organism morphology phenotype", + "sensory system", + "craniocervical region phenotype", "main body axis", - "subdivision of organism along main body axis", - "Cryptorchidism", - "heart plus pericardium", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "forelimb long bone", - "limb segment", - "abnormal anatomical entity morphology in the independent continuant", - "multicellular anatomical structure", - "forelimb endochondral element", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "abnormality of internal male genitalia physiology", - "organism subdivision", - "anatomical entity hypoplasia in independent continuant", - "decreased length of forelimb zeugopod bone", - "musculature of limb", - "negative regulation of biosynthetic process", - "Abnormality of the anus", - "organ system subdivision", - "radius endochondral element", - "abnormal arm", + "localised multicellular anatomical structure", + "Growth abnormality", + "axial skeletal system", + "head phenotype", + "skeleton phenotype", + "organism", + "Neoplasm of the skin", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "decreased length of bone of pectoral complex", + "nose tip", + "subdivision of organism along main body axis phenotype", + "craniocervical region", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of telencephalon", + "decreased multicellular organismal process", + "root", + "appendage", + "anatomical entity phenotype", + "decreased length of organ", + "forebrain morphology phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "Decreased head circumference", + "central nervous system morphology phenotype", + "Abnormality of the nervous system", + "anatomical conduit phenotype", + "postcranial axial skeleton", + "number of hematopoietic cell phenotype", + "nervous system phenotype", + "All", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "anatomical conduit", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "craniocervical region morphology phenotype", + "aplasia or hypoplasia of skeleton", + "Neoplasm", + "ectoderm-derived structure phenotype", + "skin of body phenotype", + "negative regulation of metabolic process", + "shape kidney", + "manual digit 1 or 5", + "nervous system morphology phenotype", + "digit 1 phenotype", + "digit phenotype", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "visual system", + "kidney morphology phenotype", + "postcranial axial skeletal system", + "limb phenotype", + "paired limb/fin skeleton", + "subdivision of skeletal system phenotype", + "renal system morphology phenotype", + "radius bone morphology phenotype", + "Abnormal myeloid cell morphology", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "facial skeleton", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "membrane bone phenotype", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", + "entity", + "endochondral bone phenotype", + "absent material anatomical entity in the limb", + "dermal bone", + "size of anatomical entity phenotype", + "Abnormality of skin pigmentation", + "bone of jaw phenotype", + "phenotypic effect", + "autopod region morphology phenotype", + "cellular organisms", + "number of cell phenotype", + "Metazoa", + "Abnormal hand morphology", + "external soft tissue zone", + "skeletal system phenotype", + "digit plus metapodial segment", + "mouth", + "Absent thumb", + "bone of free limb or fin", + "Bulbous nose", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "manual digit morphology in the manus phenotype", + "forelimb zeugopod morphology phenotype", + "decreased number of anatomical structure", + "head bone phenotype", + "skeleton of pectoral complex", + "erythrocyte morphology phenotype", + "paired limb/fin segment", + "Opisthokonta", + "decreased length of endochondral bone", + "compound organ", + "eye", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "decreased size of the palpebral fissure", + "cranial skeletal system", + "multicellular anatomical structure phenotype", + "bone element phenotype", + "dermatocranium", + "pectoral complex", + "absent multicellular anatomical structure in the multicellular organism", + "head", + "upper limb segment phenotype", + "endochondral element phenotype", + "manual digit 1 morphology phenotype", + "forebrain", + "regional part of brain phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "orbital region phenotype", + "skeleton of limb", + "skin of body morphology phenotype", + "material anatomical entity", + "structure with developmental contribution from neural crest phenotype", + "integument phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "absent anatomical structure in the forelimb", + "bone marrow cell", + "bone of pectoral complex phenotype", + "increased size of the ectoderm-derived structure", + "localised kidney", + "absent anatomical structure", + "reproductive organ phenotype", + "decreased size of the skeletal element", + "appendicular skeleton", + "upper limb segment", + "arm phenotype", + "hematopoietic system", + "segment of manus", + "protein-containing material entity", + "manual digit plus metapodial segment", + "anatomical system phenotype", + "sense organ", + "limb endochondral element", + "agenesis of anatomical entity", + "skeleton of manus", + "musculoskeletal system", + "Aplasia/Hypoplasia of facial bones", + "phenotype", + "Abnormal cell morphology", + "head bone morphology phenotype", + "Abnormal limb bone morphology", + "absent digit", + "arm", + "autopodial extension phenotype", + "manual digit", + "subdivision of trunk", + "Abnormal thumb morphology", + "continuant", + "entire sense organ system", + "absent material anatomical entity in the forelimb", + "Abnormal appendicular skeleton morphology", + "limb segment phenotype", + "Abnormal cerebral morphology", + "arm bone", + "absent organism subdivision in the multicellular organism", + "autopod region phenotype", + "increased pigmentation", + "material anatomical entity phenotype", + "forelimb long bone phenotype", + "skeletal system", + "motile cell", + "decreased size of the digit", + "paired limb/fin", + "Hypoplasia of the radius", + "manus phenotype", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", - "external soft tissue zone", - "palmar/plantar part of autopod", - "Abnormality of limb bone", - "Abnormality of the musculoskeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "terminal part of digestive tract", - "absent anatomical entity in the limb", - "abnormal forelimb morphology", - "abnormal skeletal system", + "regulation of metabolic process", + "decreased size of the ectoderm-derived structure", "autopodial extension", - "abnormal long bone morphology", - "forelimb zeugopod bone", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "subdivision of organism along appendicular axis", - "radius bone hypoplasia", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "programmed DNA elimination", - "digit", - "anatomical entity", - "palmar part of manus", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the palmar part of manus", - "subdivision of trunk", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "Aplasia/Hypoplasia of the mandible", + "mesoderm-derived structure phenotype", + "neoplasm phenotype", + "aplasia or hypoplasia of mandible", + "bone element", + "intramembranous bone phenotype", + "lateral structure", + "Squamous cell carcinoma", + "mesoderm-derived structure", + "organ system subdivision", + "erythrocyte", + "musculature", + "regional part of brain", + "number of anatomical enitites of type organism subdivision phenotype", + "limb endochondral element phenotype", + "anatomical structure", + "anatomical entity physiology phenotype", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "forelimb endochondral element", + "Abnormality of the skin", + "paired limb/fin phenotype", + "taxon specific phenotype", + "regional part of nervous system phenotype", + "skeletal element", + "regulation of biosynthetic process phenotype", + "zeugopod", "absent manual digit", - "abnormal phenotype by ontology source", - "Growth abnormality", - "abnormal palmar part of manus morphology", - "programmed DNA elimination by chromosome breakage", - "abnormal cell", - "regulation of macromolecule biosynthetic process", - "alimentary part of gastrointestinal system", - "Abnormal reproductive system morphology", - "muscle organ", - "abnormal anatomical entity length", - "orifice", - "DNA metabolic process", - "organ", - "occurrent", - "upper limb segment", - "appendicular skeleton", - "obsolete heterocycle metabolic process", - "non-functional anatomical entity", - "thoracic segment organ", - "aplasia or hypoplasia of radius bone", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormal upper limb bone morphology", - "abnormality of kidney physiology", - "negative regulation of cellular biosynthetic process", - "root", - "appendage", - "Abnormal internal genitalia", - "regulation of cellular process", - "abnormal growth", + "limb segment", + "forelimb morphology phenotype", + "decreased sensory perception of mechanical stimulus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "nose morphology phenotype", + "Pelvic kidney", + "telencephalon phenotype", + "male reproductive system phenotype", + "sensory perception of mechanical stimulus phenotype", "independent continuant", - "reproductive system", - "organic cyclic compound metabolic process", - "segment of autopod", - "abnormal intestine morphology", + "facial skeleton morphology phenotype", "aplastic manual digit 1", - "deviation of anatomical entity", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "obsolete cellular aromatic compound metabolic process", - "Abnormality of limbs", - "male reproductive organ", - "cellular component organization or biogenesis", - "abnormal testis morphology", - "forelimb zeugopod", - "continuant", - "Chromosome breakage", - "abnormal chromatin organization", - "decreased size of the anatomical entity in the pectoral complex", + "dentary", + "anatomical entity morphology in the manus phenotype", + "segment of autopod", + "anatomical system", + "absent multicellular anatomical structure in the forelimb", + "limb bone morphology phenotype", + "palpebral fissure", + "decreased size of the forelimb endochondral element", + "bone element hypoplasia in face", + "Abnormal forebrain morphology", "forelimb", "Abnormal skeletal morphology", - "material entity", - "abnormal spatial pattern of anatomical entity", - "protein-containing complex organization", - "limb bone", - "increased size of the anatomical entity", - "abnormal limb bone", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "metabolic process", - "musculature of pectoral complex", - "thoracic cavity element", - "multicellular organism", - "absent anatomical entity in the multicellular organism", - "abnormal organelle organization", - "cellular organisms", - "Abnormality of the musculature", - "thoracic segment of trunk", - "abnormal digit", - "obsolete nitrogen compound metabolic process", - "abnormal limb bone morphology", - "phenotype", - "nucleobase-containing compound metabolic process", - "absent digit", - "decreased height of the multicellular organism", - "Short long bone", - "male gamete generation", - "skeleton", - "Abnormal external genitalia", - "negative regulation of biological process", - "Abnormal large intestine morphology", - "abnormal anatomical entity morphology", - "arm bone", - "specifically dependent continuant", + "decreased size of the anatomical entity in the pectoral complex", + "size of skull phenotype", + "Abnormal facial skeleton morphology", + "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "bone of appendage girdle complex phenotype", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abdomen", + "manual digit 1 plus metapodial segment", + "dermal skeletal element phenotype", + "paired limb/fin segment phenotype", + "ectoderm-derived structure", + "decreased length of limb bone", + "Abnormal digit morphology", + "head morphology phenotype", + "forelimb skeleton", + "Aplasia/hypoplasia involving the skeleton", "decreased qualitatively biological_process", - "abnormal cellular component organization", - "Deviation of the hand or of fingers of the hand", - "abnormal primary metabolic process", - "pectoral appendage", + "ear phenotype", + "anatomical entity", + "pectoral appendage skeleton", + "Vitiligo", + "Short palpebral fissure", + "decreased size of the limb endochondral element", + "acropodium region", + "bone marrow", + "dermal skeletal element", + "subdivision of organism along main body axis", + "kidney phenotype", + "skeletal system morphology phenotype", + "manus", + "increased size of the material anatomical entity", + "increased size of the anatomical entity", + "limb", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "Abnormality of limbs", + "number of anatomical enitites of type material anatomical entity phenotype", "body proper", - "alimentary part of gastrointestinal system atresia", - "cellular component organization", - "Deviation of finger", - "negative regulation of metabolic process", - "Aplasia/hypoplasia involving bones of the upper limbs", - "cellular metabolic process", - "abnormal forelimb zeugopod morphology", - "anatomical entity hypoplasia", - "Short stature", - "decreased biological_process", + "regulation of gene expression", + "pectoral appendage", + "Microcephaly", + "multi-tissue structure phenotype", + "Abnormality of the musculoskeletal system", + "increased size of the nose", + "Abnormal cellular immune system morphology", + "absent multicellular anatomical structure in the limb", + "digit morphology phenotype", + "Abnormality of the ocular adnexa", + "decreased number of cell", + "Micrognathia", + "Abnormal mandible morphology", "Aplasia/hypoplasia of the extremities", - "negative regulation of cellular process", - "decreased qualitatively reproductive process", - "genitourinary system", - "forelimb skeleton", - "absent sperm in the semen", - "Hydronephrosis", + "Hypoplastic facial bones", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "absent organism subdivision", + "skeleton", + "immune system phenotype", + "anatomical collection phenotype", + "quality", + "decreased number of platelet", + "organ physiology phenotype", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "absent autopodial extension", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "bone of appendage girdle complex", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "digit 1 plus metapodial segment", + "telencephalon morphology phenotype", + "integumental system", + "absent anatomical entity", + "anatomical entity morphology in the pectoral complex phenotype", + "musculature phenotype", + "aplasia or hypoplasia of skull", + "number of anatomical enitites of type anatomical entity phenotype", + "external male genitalia", + "organism subdivision", + "digit 1 or 5 phenotype", + "telencephalon", + "multi-limb segment region", + "regulation of gene expression phenotype", + "system", + "brain morphology phenotype", + "Abnormality of the integument", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "brain", + "regional part of nervous system", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "Abnormality of head or neck", + "Abnormal skull morphology", + "decreased number of hematopoietic cell", + "skeleton of lower jaw", + "Abnormal brain morphology", + "testis phenotype", + "mandible", + "location of anatomical entity phenotype", + "limb skeleton subdivision", + "skull", + "bone of pectoral complex", "decreased length of anatomical entity", - "abnormal cellular process", - "heart", - "abnormal manual digit morphology in the manus", + "primary subdivision of cranial skeletal system", + "homeostatic process phenotype", + "Abnormality of limb bone", + "central nervous system", + "decreased length of forelimb bone", + "decreased length of bone element", + "limb long bone morphology phenotype", + "increased biological_process in skin of body", + "localised anatomical entity", + "decreased size of the multicellular anatomical structure", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "zeugopodial skeleton", + "limb long bone", + "forelimb long bone", + "Abnormal forearm morphology", + "Anemia", + "Abnormality of the hand", "radius bone", - "abnormal DNA metabolic process", - "organic substance metabolic process", - "Abnormal cellular physiology", - "acropodium region", - "regulation of biological process", - "changed developmental process rate", - "lateral structure", - "Non-obstructive azoospermia", - "biological regulation", - "regulation of cellular biosynthetic process", - "forelimb zeugopod skeleton", - "abnormal limb morphology", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "abnormality of renal system physiology", - "quality", - "Small thenar eminence", - "obsolete cellular nitrogen compound metabolic process", - "organelle organization", - "regulation of gene expression", - "abdomen element", - "negative regulation of cellular metabolic process", - "appendicular skeletal system", - "anatomical structure", - "Abnormal anus morphology", - "protein-DNA complex organization", - "arm", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal manus", + "Limb undergrowth", + "radius endochondral element", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "camera-type eye", + "decreased length of skeletal element", + "Abnormality of the orbital region", + "forelimb zeugopod bone hypoplasia", + "decreased size of the organ", + "decreased size of the endochondral bone", + "forelimb zeugopod", + "decreased size of the bone of pectoral complex", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "decreased size of the bone of free limb or fin", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased length of anatomical structure", + "renal/urinary system phenotype", + "forelimb bone", + "anatomical entity hypoplasia", + "axial skeleton plus cranial skeleton", + "decreased size of the limb bone", + "oxygen accumulating cell", + "multi-tissue structure", + "limb long bone phenotype", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "nervous system", + "forelimb zeugopod bone", "appendage girdle complex", - "macromolecule metabolic process", - "Abnormality of digestive system morphology", - "thenar eminence", - "abnormal limb", - "manus", - "abnormal biological_process", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "negative regulation of gene expression", - "Abnormality of the digestive system", - "regulation of macromolecule metabolic process", - "Abnormal long bone morphology", - "skeleton of limb", - "pectoral appendage musculature", - "abnormal metabolic process", - "external male genitalia", - "chromatin organization", - "muscle structure", - "material anatomical entity", - "biological_process", - "abdominal segment element", - "abnormal thenar eminence", + "subdivision of head", + "decreased length of multicellular anatomical structure", + "digestive system element", + "radius bone phenotype", + "Abnormality of the head", + "multi organ part structure phenotype", "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "Hypoplasia of the radius", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "abnormal cellular metabolic process", - "All", - "anatomical collection", - "abnormal programmed DNA elimination by chromosome breakage", - "process", - "nucleic acid metabolic process", - "zeugopod", - "skeletal element", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal upper urinary tract", - "musculoskeletal system", - "Limb undergrowth", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "long bone", - "primary metabolic process", - "decreased length of long bone", - "skeletal system", - "abnormal size of multicellular organism", - "bone element", - "endochondral element", - "multi-limb segment region", - "Opisthokonta", - "paired limb/fin segment", - "abnormal cardiovascular system morphology", - "bone element hypoplasia in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "subdivision of digestive tract", - "delayed biological_process", + "decreased length of mesoderm-derived structure", + "decreased length of forelimb zeugopod bone", + "size of palpebral fissure phenotype", + "forelimb bone phenotype", "Short forearm", - "limb endochondral element", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "mesoderm-derived structure", - "cell", - "Abnormality of the upper limb", - "limb", - "aplasia or hypoplasia of skeleton", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "Upper limb undergrowth", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "manual digit plus metapodial segment", - "abnormal radius bone morphology", - "system", + "regulation of cellular biosynthetic process phenotype", + "subdivision of digestive tract", + "decreased length of material anatomical entity", + "neural crest-derived structure", + "digestive system element phenotype", + "decreased size of the long bone", + "decreased size of the material anatomical entity", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "decreased size of the forelimb bone", + "Abnormal size of the palpebral fissures", + "delayed growth", + "arm bone phenotype", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "decreased size of the arm bone", + "Abnormality of the genitourinary system", + "blood cell", + "head bone", + "decreased size of the bone of appendage girdle complex", + "bone of craniocervical region phenotype", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "increased volume of anatomical entity", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "membrane bone", + "bone of pectoral complex morphology phenotype", + "organ", + "decreased size of the anatomical structure", + "decreased length of forelimb endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "U-shaped anatomical entity", + "long bone phenotype", + "olfactory organ phenotype", + "reproductive organ", + "Short long bone", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "face morphology phenotype", "aplasia or hypoplasia of manual digit 1", - "subdivision of skeleton", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "anatomical system", - "anal region", - "paired limb/fin skeleton", - "compound organ", + "dermal skeleton", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "multi organ part structure", + "multi-limb segment region phenotype", + "hemolymphoid system", + "male reproductive organ", + "disconnected anatomical group", + "eyelid morphology phenotype", + "orifice phenotype", + "palpebral fissure phenotype", + "non-connected functional system", + "orifice", + "decreased size of the endochondral element", + "orbital region", + "Blepharophimosis", + "face phenotype", + "camera-type eye morphology phenotype", + "Abnormality of the palpebral fissures", + "ocular adnexa phenotype", + "Abnormal eyelid morphology", + "Abnormal ocular adnexa morphology", + "decreased system process", + "organ part", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "eyelid", + "ocular adnexa", + "decreased size of the material anatomical entity in the pectoral complex", + "Abnormality of the face", + "shape of continuant phenotype", + "anucleate cell", + "reproductive structure phenotype", + "nucleate cell", + "eukaryotic cell", + "craniofacial/craniocervical phenotype", + "serotonin secreting cell", + "anatomical point", + "decreased number of anatomical entity", "obsolete cell", - "zeugopodial skeleton", - "limb long bone", - "Abnormality of the urinary system", - "forelimb bone", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "manual digit", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormal appendicular skeleton morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "digit 1", - "aplasia or hypoplasia of manual digit", - "organism", - "autopod region", - "digit plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "manual digit 1 plus metapodial segment", - "cardiovascular system", + "programmed DNA elimination", + "decreased length of long bone", + "anatomical entity morphology phenotype", + "digestive system", + "platelet", + "Ectopic kidney", + "immune system morphology phenotype", + "cavitated compound organ", + "Abnormal leukocyte count", + "Abnormal cellular phenotype", + "integument", + "platelet phenotype", + "number of myeloid cell phenotype", + "number of platelet phenotype", + "Abnormal immune system morphology", + "decreased number of material anatomical entity", + "decreased number of myeloid cell", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "number of anatomical enitites of type anatomical structure phenotype", + "Abnormal bone marrow cell morphology", + "digestive system phenotype", + "Abnormal platelet count", + "subdivision of head phenotype", + "blood cell phenotype", + "limb bone phenotype", + "secretory cell", + "hematopoietic system phenotype", + "forelimb zeugopod bone morphology phenotype", + "tissue", + "leukocyte", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "upper urinary tract", + "decreased length of digit", + "Abnormality of the male genitalia", "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "anterior region of body", - "aplastic anatomical entity", - "abnormal autopod region morphology", - "bone of free limb or fin", - "Absent thumb", - "pectoral appendage skeleton", - "abnormal manus morphology", - "skeleton of manus", - "abnormal digit morphology", - "digit 1 plus metapodial segment", - "agenesis of anatomical entity", - "Abnormality of the hand", - "Abnormal finger morphology", - "cellular process", - "Abnormal digit morphology", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "absent anatomical entity", - "Short thumb", - "abnormal manual digit 1 morphology", - "abnormal manual digit morphology in the independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "primary circulatory organ", + "Abnormality of blood and blood-forming tissues", + "organ phenotype", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "decreased length of organism subdivision", + "bone of lower jaw", + "mandible hypoplasia", + "anatomical structure physiology phenotype", + "facial bone phenotype", + "Abnormality of the digestive system", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "digestive system morphology phenotype", + "decreased size of the autopodial extension", + "Abnormal jaw morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "increased size of the olfactory organ", + "decreased length of autopodial extension", + "organ part phenotype", + "cell phenotype", + "anatomical entity hypoplasia in face", + "skull phenotype", + "Abnormal digestive system morphology", + "decreased length of limb endochondral element", + "dentary phenotype", + "jaw skeleton morphology phenotype", + "digestive tract", + "limb bone", + "subdivision of digestive tract phenotype", + "U-shaped kidney", "digit 1 or 5", - "abnormal male reproductive organ morphology", - "autopodial skeleton", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "Finger aplasia", - "pectoral complex", - "trunk region element", + "bone of jaw", + "manus morphology phenotype", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "biological_process", + "genitourinary system phenotype", + "mouth morphology phenotype", + "neural crest-derived structure phenotype", + "decreased size of the orifice", + "immune system", + "facial bone", + "gonad", + "localised gonad", + "Upper limb undergrowth", + "Abnormality of thrombocytes", + "jaw skeleton", + "lateral structure phenotype", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "mandible phenotype", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", + "mandible morphology phenotype", + "bone of lower jaw phenotype", + "Abnormality of body height", + "tube", + "mouth phenotype", + "localised abdominal segment element", + "primary subdivision of skull", + "absent anatomical structure in the limb", + "dermal bone phenotype", + "subdivision of tube phenotype", + "Abnormal oral morphology", + "cell", + "Abnormality of the mouth", + "lower jaw region", + "Pancytopenia", + "subdivision of organism along appendicular axis phenotype", + "jaw region", + "localised anatomical structure", + "Abnormal reproductive system morphology", + "decreased length of bone of appendage girdle complex", + "Abnormal male external genitalia morphology", + "intramembranous bone", + "Abnormality of the genital system", + "testis", + "skull morphology phenotype", + "localised reproductive structure", + "Cryptorchidism", + "subdivision of tube", + "localised reproductive organ", + "male reproductive system", ], }, { "id": "MONDO:0024525", "category": "biolink:Disease", "name": "Fanconi renotubular syndrome 1", - "xref": ["DOID:0080757", "OMIM:134600"], "provided_by": "phenio_nodes", + "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"], "synonym": [ "DeToni-Debré-Fanconi syndrome", "FRTS1", @@ -11324,10 +13520,10 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ + "HP:0002749", "HP:0001942", "HP:0003648", - "HP:0001324", - "HP:0002749", + "HP:0003155", "HP:0002148", "HP:0000124", "HP:0003109", @@ -11335,17 +13531,17 @@ def autocomplete_response(): "HP:0002748", "HP:0034359", "HP:0003076", - "HP:0003155", + "HP:0000083", "HP:0003355", "HP:0004322", "HP:0003126", - "HP:0000083", + "HP:0001324", ], "has_phenotype_label": [ + "Osteomalacia", "Metabolic acidosis", "Lacticaciduria", - "Muscle weakness", - "Osteomalacia", + "Elevated circulating alkaline phosphatase concentration", "Hypophosphatemia", "Renal tubular dysfunction", "Hyperphosphaturia", @@ -11353,724 +13549,740 @@ def autocomplete_response(): "Rickets", "Impaired renal tubular reabsorption of phosphate", "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", + "Renal insufficiency", "Aminoaciduria", "Short stature", "Low-molecular-weight proteinuria", - "Renal insufficiency", + "Muscle weakness", ], "has_phenotype_count": 16, "has_phenotype_closure": [ + "UPHENO:0002359", + "HP:0003011", + "UPHENO:0080555", + "HP:0001324", + "HP:0000093", + "CHEBI:16541", "CHEBI:37622", - "UPHENO:0068247", "UPHENO:0068565", - "CHEBI:16541", - "CHEBI:32988", - "CHEBI:15841", "CHEBI:16670", - "UPHENO:0020584", + "CHEBI:15841", + "UPHENO:0075195", + "UPHENO:0069327", "GO:0040007", - "UPHENO:0049874", "UPHENO:0081424", - "UPHENO:0000541", + "UPHENO:0069062", "UPHENO:0069254", - "UPHENO:0086132", - "UPHENO:0075195", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0000541", + "UPHENO:0049874", "UPHENO:0075159", - "UPHENO:0051670", - "CHEBI:35605", - "CHEBI:36587", - "UPHENO:0068538", - "UPHENO:0068040", - "UPHENO:0068169", "HP:0003355", - "CHEBI:24651", - "CHEBI:33575", - "UPHENO:0068495", + "CHEBI:33674", "UPHENO:0046286", - "CHEBI:33608", "UPHENO:0068144", - "UPHENO:0068091", + "UPHENO:0068169", "HP:0031980", + "CHEBI:33575", "CHEBI:33709", - "CHEBI:50047", - "HP:0004379", - "UPHENO:0081777", - "UPHENO:0068971", - "CHEBI:33695", - "UPHENO:0082943", - "PR:000064867", - "CHEBI:35352", - "UPHENO:0075666", - "CHEBI:51143", - "CHEBI:33694", - "UPHENO:0046362", - "HP:0012379", - "PR:000018263", + "CHEBI:33608", + "CHEBI:24651", + "CHEBI:72695", + "CHEBI:35605", + "HP:0025745", + "CHEBI:18133", + "CHEBI:36962", + "CHEBI:25806", + "UPHENO:0068054", + "CHEBI:35381", "UPHENO:0080658", "UPHENO:0000543", "HP:0003076", - "HP:0000002", - "HP:0033354", - "UPHENO:0068054", - "CHEBI:33285", - "CHEBI:50860", - "CHEBI:36962", - "CHEBI:25806", - "CHEBI:18133", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0051960", - "GO:0050801", - "BFO:0000003", - "HP:0002148", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0050080", - "GO:0001503", - "HP:0000118", - "UBERON:0001434", - "UBERON:0002204", - "HP:0011849", - "UPHENO:0048707", + "HP:0034359", + "UPHENO:0051191", + "GO:0003014", + "CHEBI:33917", + "HP:0011038", + "HP:0011036", + "UPHENO:0050106", + "UPHENO:0049703", + "UPHENO:0051280", "GO:0003008", - "HP:0004349", - "BFO:0000040", - "UPHENO:0082834", - "UPHENO:0034391", - "HP:0004360", - "UPHENO:0002964", - "UPHENO:0082542", - "HP:0000119", - "HP:0003330", - "HP:0034684", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "UPHENO:0082835", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", - "HP:0000093", - "GO:0055062", + "CHEBI:25367", + "HP:0011042", + "UPHENO:0089770", + "UPHENO:0089756", + "CHEBI:60242", + "CHEBI:36586", + "CHEBI:33521", + "CHEBI:24835", "UPHENO:0034253", + "UBERON:0005090", + "UBERON:0000468", "UBERON:0002417", "CHEBI:22314", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0068292", - "UBERON:0000468", - "UBERON:0005090", - "HP:0000083", - "GO:0032501", - "HP:0011804", - "UPHENO:0052008", + "HP:0004379", + "HP:0000079", + "CHEBI:50860", + "UPHENO:0068971", + "CHEBI:33695", + "GO:0001503", + "CHEBI:36357", + "PR:000018263", + "HP:0012379", + "BFO:0000020", + "UPHENO:0068491", + "CHEBI:36360", + "UPHENO:0066964", + "CHEBI:50047", + "HP:0012337", + "CHEBI:33675", + "UPHENO:0003047", + "CHEBI:33694", "CHEBI:23367", - "UPHENO:0076289", - "HP:0001324", - "UBERON:0011216", - "CHEBI:33504", + "PR:000064867", + "UBERON:0009773", + "HP:6000531", + "UPHENO:0068352", + "CHEBI:35352", + "UPHENO:0002963", + "HP:0100529", + "UBERON:0006555", "BFO:0000004", "UPHENO:0080352", "UBERON:0000179", - "UPHENO:0051635", - "UBERON:0000383", - "UPHENO:0001005", - "UPHENO:0004459", - "GO:0098771", - "UPHENO:0077821", - "CHEBI:36357", - "UBERON:0001630", - "HP:0033127", - "CHEBI:33259", - "UBERON:0001088", - "UPHENO:0002442", - "PATO:0000001", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0084653", - "UPHENO:0002320", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "UPHENO:0046283", - "HP:0011277", "CHEBI:33302", + "UPHENO:0002269", "UBERON:8450002", - "UPHENO:0051801", "CHEBI:60911", + "CHEBI:32988", + "UPHENO:0081581", "HP:0000001", - "UPHENO:0001002", - "CHEBI:60242", - "UPHENO:0086128", - "UPHENO:0049587", - "GO:0008152", + "GO:0070293", + "UBERON:0004111", + "UPHENO:0046383", + "HP:0032943", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0002731", + "UPHENO:0002426", "UPHENO:0046284", - "HP:0004348", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0075666", + "UPHENO:0002411", + "UPHENO:3000004", + "UPHENO:0002427", + "HP:0000119", + "UPHENO:0002964", + "UBERON:0001088", "HP:0012072", - "CHEBI:36080", - "UBERON:0006314", - "UBERON:0001015", - "CHEBI:37247", + "CHEBI:36587", + "UPHENO:0089294", + "UBERON:0004120", + "HP:0001939", + "GO:0008152", + "UPHENO:0002385", + "UPHENO:0049587", + "HP:0004360", + "CHEBI:51143", + "UPHENO:0002346", + "HP:0001942", "UPHENO:0068511", "BFO:0000002", - "HP:0001942", - "CHEBI:33238", - "UPHENO:0049628", - "UBERON:0000174", - "HP:0000924", - "BFO:0000020", - "UPHENO:0012541", - "UPHENO:0068491", - "CHEBI:36360", + "UPHENO:0002559", + "UPHENO:0049904", + "UBERON:0001434", + "UPHENO:0081777", + "UPHENO:0002636", + "UPHENO:0002525", + "UPHENO:0002870", + "CHEBI:33285", "UPHENO:0001003", - "HP:0003155", "UPHENO:0080556", + "HP:0003155", "HP:0002900", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0081550", + "UPHENO:0076703", + "UPHENO:0066939", + "UBERON:0002204", + "UPHENO:0002526", + "UPHENO:0068110", + "UBERON:0003103", + "UBERON:0001231", + "UPHENO:0002320", + "UPHENO:0084653", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000118", + "UBERON:0000178", + "HP:0004349", + "UPHENO:0082834", + "UPHENO:0003022", + "BFO:0000040", + "UBERON:0000174", + "HP:0000924", + "UPHENO:0034199", + "PR:000000001", + "UPHENO:0002976", + "UPHENO:0066954", + "HP:0003330", "UPHENO:0001001", - "CHEBI:24833", - "UBERON:0001008", - "CHEBI:33839", - "CHEBI:26079", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0002252", + "UBERON:0011216", + "UBERON:0001062", + "UBERON:0000062", + "HP:0011842", + "UBERON:0001630", + "HP:0033127", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", + "UPHENO:0048707", + "UPHENO:0004791", + "HP:0011849", + "UPHENO:0051763", + "GO:0008150", + "UPHENO:0066960", + "UPHENO:0005285", + "UPHENO:0002530", + "UBERON:0001015", + "UPHENO:0003088", + "BFO:0000015", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "CHEBI:60004", + "UPHENO:0002536", + "UPHENO:0076692", "GO:0042592", - "UPHENO:0082539", - "UPHENO:0082538", + "CHEBI:33582", + "UBERON:0000465", "UBERON:0000489", - "BFO:0000001", - "PR:000050567", - "CHEBI:59999", - "UPHENO:0080555", - "UBERON:0000178", - "UPHENO:0068094", - "UPHENO:0081546", - "UPHENO:0051640", - "UPHENO:0051280", - "HP:0032943", - "BFO:0000015", - "GO:0008150", - "UPHENO:0051763", - "UBERON:0001062", - "CHEBI:72695", - "UPHENO:0068064", - "HP:0001939", - "CHEBI:35381", + "UBERON:0000467", + "UBERON:0004765", + "CHEBI:15693", + "UPHENO:0081544", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "UPHENO:0051635", + "UBERON:0000383", + "HP:0011804", + "HP:0000083", + "GO:0032501", + "UBERON:0004211", + "UPHENO:0001002", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", + "HP:0002749", + "UPHENO:0002668", + "UPHENO:0082835", "CHEBI:64709", + "UPHENO:0002267", "UBERON:0003914", - "UPHENO:0079536", - "UPHENO:0024906", - "HP:0003011", - "HP:0012337", - "HP:0002749", - "CHEBI:23906", - "UPHENO:0068089", - "HP:0011842", - "UPHENO:0075696", + "HP:0002148", + "HP:0032180", + "CHEBI:33318", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33241", + "BFO:0000001", + "UPHENO:0002554", + "UBERON:0002193", + "UPHENO:0002422", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", "HP:0001871", - "UPHENO:0002536", - "UPHENO:0076692", - "UBERON:0001231", - "UPHENO:0068110", - "UBERON:0003103", - "UBERON:0004111", - "GO:0070293", - "UBERON:0000062", - "UPHENO:0082875", - "UBERON:0001474", - "UBERON:0002100", - "CHEBI:28358", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "UPHENO:0051960", + "UPHENO:0066739", + "UPHENO:0075902", "HP:0001507", "CHEBI:37577", "HP:0001510", "HP:0003109", - "HP:0012591", - "HP:0000079", - "CHEBI:60004", - "CHEBI:33241", - "CHEBI:26082", - "HP:0100529", - "UPHENO:0034217", - "CHEBI:24870", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", + "UPHENO:0051900", + "CHEBI:33238", + "CHEBI:33259", + "HP:0011277", + "UPHENO:0046283", "UBERON:0000064", - "CHEBI:33675", - "UBERON:0002193", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0051937", - "UPHENO:0049904", - "UPHENO:0066739", - "UPHENO:0075902", - "CHEBI:33250", - "UBERON:0002113", - "HP:0032180", - "CHEBI:25367", - "HP:0011042", - "UBERON:0004120", - "CHEBI:17234", - "GO:0048878", - "HP:0040156", - "UBERON:0000463", - "CHEBI:26020", - "UPHENO:0002816", - "UBERON:0011143", - "HP:0011036", + "CHEBI:26082", + "UPHENO:0002287", + "UBERON:0004122", + "HP:0010935", + "UPHENO:0002246", + "UPHENO:0005141", + "UPHENO:0002859", "CHEBI:78616", "HP:0000077", - "UBERON:0013702", - "CHEBI:33304", - "HP:0010930", - "UPHENO:0051847", - "UBERON:0005177", - "UBERON:0005173", + "UPHENO:0002564", + "UBERON:0007684", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002909", "CHEBI:16646", "HP:0000124", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "GO:0003014", - "UBERON:0004819", - "UPHENO:0082543", "UBERON:0000483", - "CHEBI:24431", - "HP:0003111", - "CHEBI:33318", - "UBERON:0004122", - "HP:0010935", - "UBERON:0015212", + "UBERON:0005173", + "UPHENO:0066950", + "UPHENO:0066903", + "UBERON:0005177", + "UPHENO:0002210", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", "HP:0012211", - "UPHENO:0002411", - "UBERON:0000916", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0009773", - "HP:6000531", - "UPHENO:0068352", - "UBERON:0005172", + "UBERON:0015212", + "HP:0004348", + "UPHENO:0002311", + "UPHENO:0002308", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0009569", + "HP:0000002", + "HP:0033354", + "UPHENO:0066921", "HP:0001992", - "UBERON:0010000", "UPHENO:0051709", + "UBERON:0010000", "UBERON:0002390", "UPHENO:0066943", "HP:0004322", + "UPHENO:0002568", "CHEBI:26216", - "UPHENO:0049709", + "UPHENO:0082875", + "CHEBI:28358", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0003430", + "UPHENO:0002360", + "UPHENO:0024906", + "CHEBI:17234", + "UPHENO:0066946", + "CHEBI:24870", + "UPHENO:0003941", + "UPHENO:0002377", + "UPHENO:0002754", + "UBERON:0004819", + "UPHENO:0003094", + "HP:0012591", + "UPHENO:0066925", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0002248", + "UBERON:0000916", + "UPHENO:0002386", "PR:000003968", "UBERON:0000479", "UPHENO:0051686", "CHEBI:36915", + "UPHENO:0066959", + "UPHENO:0066913", "UBERON:0000475", + "UBERON:0013701", + "UBERON:0001285", "HP:0012599", - "UPHENO:0051898", - "PR:000000001", - "UPHENO:0034199", - "UBERON:0006555", - "GO:0055080", - "CHEBI:36914", - "CHEBI:36586", - "CHEBI:33521", - "UPHENO:0081544", - "CHEBI:15693", - "UPHENO:0051645", - "CHEBI:33296", + "UPHENO:0005201", "HP:0010929", - "UPHENO:0034438", - "CHEBI:26217", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0051930", - "CHEBI:33559", "UPHENO:0081547", - "CHEBI:25414", + "UBERON:0002113", + "CHEBI:33250", + "CHEBI:33559", + "UPHENO:0051645", + "CHEBI:36914", + "UPHENO:0079822", "UBERON:0000061", "CHEBI:36916", - "UPHENO:0079822", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0080659", - "CHEBI:25213", - "UPHENO:0051958", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "CHEBI:29103", - "HP:0003126", - "UPHENO:0002832", - "UPHENO:0002803", - "HP:0002748", - "UPHENO:0051191", - "HP:0034359", - "UBERON:0000465", - "CHEBI:33582", - "CHEBI:33917", - "HP:0011038", - "CHEBI:33674", - "UPHENO:0068058", ], "has_phenotype_closure_label": [ - "Renal insufficiency", - "non-functional kidney", - "non-functional anatomical entity", - "peptide", + "decreased muscle organ strength", + "muscle structure physiology phenotype", + "muscle structure phenotype", + "Abnormality of the musculature", + "muscle organ physiology phenotype", + "muscle organ", "increased level of protein polypeptide chain in urine", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "Low-molecular-weight proteinuria", - "abnormal independent continuant protein polypeptide chain level", - "carboxamide", + "peptide", "Abnormal urine protein level", - "Abnormality of body height", + "Low-molecular-weight proteinuria", "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the independent continuant", - "delayed growth", - "Growth delay", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", "growth", - "decreased size of the anatomical entity in the independent continuant", - "Growth abnormality", - "carboxylic acid", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "Elevated urinary carboxylic acid", - "increased level of organic acid in independent continuant", - "carbonyl compound", + "growth phenotype", + "decreased height of the anatomical entity", + "Growth delay", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "s-block molecular entity", "molecule", + "amino acid level phenotype", + "Elevated urinary carboxylic acid", "Organic aciduria", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of organic acid in urine", + "Abnormal urine amino acid level", "hydroxides", "organic molecule", - "abnormal urine amino acid level", - "increased level of amino acid in urine", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of protein", - "protein", - "macromolecule", - "nitrogen molecular entity", - "protein-containing molecular entity", - "alkaline phosphatase, tissue-nonspecific isozyme", - "Abnormal circulating enzyme concentration or activity", - "organic amino compound", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", + "increased level of organic acid in urine", + "amino acid", + "carbonyl compound", + "carboxylic acid", + "urine amino acid level phenotype", + "Renal insufficiency", + "aldohexose", + "hexose", "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", - "increased level of monosaccharide in urine", - "organic molecular entity", - "oxygen molecular entity", - "increased level of organic molecular entity in independent continuant", - "Abnormal urine metabolite level", - "Hypophosphatemia", - "monoatomic ion", - "decreased size of the anatomical entity", - "blood", - "inorganic ion", - "pnictogen molecular entity", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "organism substance", - "primary amide", - "elemental molecular entity", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "abnormal renal absorption", - "skeletal system", - "abnormal size of multicellular organism", - "bone element", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "abnormal anatomical entity mass density", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "epithelium", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "abnormal monoatomic cation homeostasis", - "abnormal bone element mass density", - "decreased role independent continuant level", - "skeletal element", - "increased level of rac-lactic acid in independent continuant", - "cavitated compound organ", - "Abnormality of the upper urinary tract", - "musculature of body", - "monoatomic cation", - "organ part", - "Muscle weakness", - "abdominal segment of trunk", - "decreased muscle organ strength", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", - "abnormal potassium atom level", - "abnormal renal system process", - "abnormal musculature", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "abnormality of muscle organ physiology", - "urine", - "anatomical system", - "Abnormal bone structure", - "potassium(1+)", - "abnormal blood chemical entity level", - "phosphate ion homeostasis", + "aldose", + "glucose", + "organooxygen compound", + "monosaccharide", + "urine glucose level phenotype", + "carbohydrates and carbohydrate derivatives", + "renal absorption", + "renal absorption phenotype", + "Abnormality of renal excretion", + "renal system process", + "cation", + "inorganic ion", + "decreased level of potassium atom in blood", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "role bodily fluid level phenotype", + "Abnormal blood monovalent inorganic cation concentration", + "potassium atom level phenotype", + "Hypophosphatemia", + "monoatomic ion", + "protein", + "macromolecule", + "organic molecular entity", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "heteroatomic molecular entity", + "tube phenotype", + "increased level of glucose in urine", + "blood phosphate level phenotype", + "nitrogen molecular entity level phenotype", + "body proper", + "alkaline phosphatase, tissue-nonspecific isozyme level phenotype", + "anatomical system phenotype", + "musculature phenotype", + "organic amino compound", + "material entity", + "Abnormality of alkaline phosphatase level", + "excretory system", + "abdomen element phenotype", + "alkaline phosphatase, tissue-nonspecific isozyme", + "nephron epithelium", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "polyatomic entity", "racemate", - "Aminoaciduria", - "organ system subdivision", - "abnormal genitourinary system", - "abnormal chemical homeostasis", + "renal system physiology phenotype", + "rac-lactic acid", + "amide", + "chemical entity level phenotype", + "trunk region element", + "chemical substance", + "organic oxo compound", + "excreta", + "Abnormality of the urinary system", + "Aciduria", + "renal system phenotype", + "metal atom", + "Abnormality of the urinary system physiology", + "increased level of chemical entity in urine", + "increased urine role level", "decreased anatomical entity strength", "mixture", "epithelial tube", - "chemical substance", + "Abnormality of acid-base homeostasis", + "tube", + "Metabolic acidosis", "chemical entity", - "increased independent continuant acid level", - "abnormal blood monoatomic ion level", - "increased bodily fluid acid level", - "process", - "All", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "increased level of amino acid in independent continuant", - "Abnormality of the musculature", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal role urine level", - "abnormal chemical entity level", - "increased level of rac-lactic acid in urine", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "abnormal urine glucose level", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "multicellular anatomical structure", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Abnormality of the genitourinary system", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", + "Short stature", + "inorganic molecular entity", "Acidosis", - "material entity", - "abnormal independent continuant potassium atom level", + "upper urinary tract phenotype", + "increased level of chemical entity", + "inorganic cation", + "alkali metal atom", + "bone element mass density phenotype", + "Abnormal blood cation concentration", + "Growth abnormality", + "anatomical entity morphology phenotype", + "Abnormal skeletal morphology", + "skeletal system phenotype", + "carbon group molecular entity", + "main group molecular entity", + "Elevated circulating alkaline phosphatase concentration", "protein polypeptide chain", + "system process phenotype", "continuant", - "nephron", "amino acid chain", + "anatomical system physiology phenotype", "tissue", - "monoatomic ion homeostasis", - "abnormal urine chemical entity level", - "biomacromolecule", - "p-block molecular entity", - "inorganic cation", - "increased level of chemical entity", - "renal absorption", - "homeostatic process", - "Abnormal enzyme concentration or activity", - "organochalcogen compound", + "nephron", + "skeletal element", + "cavitated compound organ", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "muscle organ phenotype", + "anatomical structure", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical conduit", "Abnormal muscle physiology", + "organochalcogen compound", "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "oxygen molecular entity", + "urine chemical entity level phenotype", + "Abnormality of the musculoskeletal system", + "musculature of body", + "Abnormal bone structure", + "anatomical system", + "role urine level phenotype", + "muscle structure", + "material anatomical entity", + "entity", + "metabolic process", "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", + "taxon specific phenotype", "Abnormal blood ion concentration", + "multicellular organismal process phenotype", "increased level of alkaline phosphatase, tissue-nonspecific isozyme", "main group element atom", - "carbon group molecular entity", - "metabolic process", - "bodily fluid", - "abnormal urine phosphate level", - "abnormal acid bodily fluid level", - "organic oxo compound", - "excreta", - "monoatomic monocation", - "Abnormality of the urinary system physiology", + "Abnormal renal tubular resorption", + "renal/urinary system phenotype", + "anatomical entity", + "p-block molecular entity", + "biomacromolecule", + "Hypokalemia", + "anatomical structure phenotype", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "renal tubule phenotype", + "nephron tubule phenotype", + "Abnormality of the skeletal system", + "Impaired renal tubular reabsorption of phosphate", + "hematopoietic system", + "multicellular organism", + "abdominal segment element physiology phenotype", + "protein-containing molecular entity", + "tissue phenotype", + "Aminoaciduria", + "organ system subdivision", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "process", + "bone element", + "mesoderm-derived structure phenotype", + "Lacticaciduria", + "multicellular anatomical structure phenotype", + "anatomical entity physiology phenotype", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "skeletal system", + "lateral structure physiology phenotype", + "Abnormality of metabolism/homeostasis", + "decreased size of the anatomical entity", + "blood", + "heteroorganic entity", + "multicellular organismal process", + "Muscle weakness", + "organ part", + "multicellular anatomical structure", + "specifically dependent continuant", "organ", "occurrent", - "abnormal anatomical entity", - "Metabolic acidosis", - "decreased level of potassium atom in blood", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", + "All", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "anatomical entity height phenotype", + "atom", "carbohydrate", - "increased bodily fluid role level", "biological_process", "renal tubule", - "genitourinary system", - "atom", - "muscle structure", - "material anatomical entity", - "abnormal growth", + "nitrogen molecular entity", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", + "epithelial tube physiology phenotype", + "potassium atom", + "musculoskeletal system", + "hydrogen molecular entity", + "nephron tubule", + "anatomical entity phenotype", + "organonitrogen compound", "independent continuant", - "abnormal renal system", + "skeletal element phenotype", + "organ phenotype", + "bodily fluid", + "material anatomical entity phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "excretory tube phenotype", + "upper urinary tract", + "Abnormality of urine homeostasis", + "decreased functionality of the kidney epithelium", "Phenotypic abnormality", "Hyperphosphaturia", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", - "renal system", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "Abnormality of the urinary system", - "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "abnormal role bodily fluid level", - "abnormal biological_process", - "potassium atom", - "trunk", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "polyatomic entity", - "ion", - "phosphorus molecular entity", - "chemical homeostasis", - "heteroatomic molecular entity", - "abnormal acid independent continuant level", - "monoatomic entity", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "multicellular organismal process", - "abnormal blood phosphate level", + "homeostatic process phenotype", + "trunk region element physiology phenotype", + "material anatomical entity physiology phenotype", + "urine phosphate level phenotype", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "information biomacromolecule", + "decreased size of the material anatomical entity", + "abdominal segment element phenotype", + "biological_process phenotype", "organic acid", "ossification", "Abnormal circulating metabolite concentration", + "size of anatomical entity phenotype", + "phenotypic effect", + "organ physiology phenotype", "main body axis", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormality of renal system physiology", + "organism substance", + "Rickets", + "hemolymphoid system", + "Abnormal urine pH", + "bone element phenotype", + "decreased functionality of the epithelial tube", + "haemolymphatic fluid", + "phosphate", + "primary amide", + "elemental molecular entity", + "ion", + "increased level of rac-lactic acid in urine", + "blood chemical entity level phenotype", + "blood potassium atom level phenotype", + "hematopoietic system phenotype", "quality", "phosphoric acid derivative", - "Elevated circulating alkaline phosphatase concentration", - "abnormality of kidney physiology", - "main group molecular entity", - "haemolymphatic fluid", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "abnormal homeostatic process", - "Renal tubular dysfunction", - "trunk region element", - "musculoskeletal system", - "abnormal upper urinary tract", - "uriniferous tubule", - "subdivision of organism along main body axis", - "organism subdivision", - "hematopoietic system", - "multicellular organism", - "Impaired renal tubular reabsorption of phosphate", - "abnormal kidney", - "abdomen", - "excretory tube", - "Abnormal blood phosphate concentration", - "phosphorus oxoacids and derivatives", - "kidney epithelium", - "compound organ", + "Abnormal urine carboxylic acid level", + "system process", + "decreased level of chemical entity", + "decreased level of chemical entity in blood", + "genitourinary system phenotype", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "phosphorus molecular entity", + "tissue physiology phenotype", + "trunk", + "Proteinuria", + "protein-containing material entity", + "phosphate level phenotype", + "blood cation level phenotype", + "blood monoatomic ion level phenotype", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "monoatomic entity", + "subdivision of trunk", + "decreased functionality of the nephron tubule", + "chalcogen molecular entity", + "Abnormal renal physiology", + "kidney physiology phenotype", + "organ system subdivision phenotype", + "epithelium phenotype", "lateral structure", - "Abnormality of urine homeostasis", - "upper urinary tract", - "kidney", - "aldose", - "glucose", + "decreased functionality of the excretory tube", + "abdomen element", + "epithelium physiology phenotype", + "decreased functionality of the material anatomical entity", + "epithelium", + "decreased functionality of the tube", + "Abnormality of the upper urinary tract", + "tube physiology phenotype", + "cavitated compound organ phenotype", + "Renal tubular dysfunction", + "decreased functionality of the renal tubule", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", + "homeostatic process", + "excretory tube physiology phenotype", + "decreased functionality of the tissue", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "abdominal segment of trunk", + "abdomen", + "increased level of amino acid in urine", + "compound organ phenotype", + "decreased functionality of the anatomical conduit", + "trunk region element phenotype", + "decreased functionality of the anatomical structure", "Abnormality of the kidney", - "chalcogen molecular entity", - "Abnormal renal physiology", - "nephron epithelium", - "Short stature", - "inorganic molecular entity", - "abnormally decreased functionality of the anatomical entity", - "carbohydrates and carbohydrate derivatives", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "aldohexose", + "excretory tube", + "decreased functionality of the multicellular anatomical structure", + "uriniferous tubule", + "epithelial tube phenotype", + "renal system process phenotype", + "anatomical entity dysfunction in independent continuant", + "nephron epithelium phenotype", + "decreased functionality of the epithelium", + "decreased functionality of the nephron epithelium", + "kidney", "oxoacid derivative", + "compound organ physiology phenotype", "increased level of phosphate in urine", - "Abnormal blood cation concentration", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "Abnormal blood monovalent inorganic cation concentration", - "elemental potassium", - "s-block molecular entity", + "anatomical conduit phenotype", + "blood monovalent inorganic cation level phenotype", "s-block element atom", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "carbon oxoacid", - "Abnormal blood potassium concentration", - "Hypokalemia", - "monoatomic cation homeostasis", - "cation", - "alkali metal atom", - "abnormal blood potassium(1+) level", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", "musculature", "decreased role blood level", - "hemolymphoid system", - "Rickets", - "abnormal independent continuant amino acid level", - "renal system process", - "anatomical entity", - "Abnormal renal tubular resorption", - "abnormal independent continuant chemical entity level", - "Abnormality of renal excretion", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", - "abnormal phosphate level", - "decreased level of chemical entity", - "system process", - "information biomacromolecule", - "Abnormal bone ossification", - "abdominal segment element", - "Glycosuria", - "monosaccharide", - "hexose", - "organooxygen compound", - "heteroorganic entity", - "body proper", - "increased level of glucose in urine", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "role blood level phenotype", + "monovalent inorganic cation", ], }, { "id": "MONDO:0014985", "category": "biolink:Disease", "name": "Fanconi anemia complementation group V", - "xref": ["DOID:0111080", "GARD:16213", "OMIM:617243", "UMLS:C4310652"], - "provided_by": "phenio_nodes", "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.", + "provided_by": "phenio_nodes", + "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"], "synonym": [ "FANCV", "Fanconi Anemia, complementation Group 5", @@ -12107,2080 +14319,2425 @@ def autocomplete_response(): ], "has_phenotype_count": 8, "has_phenotype_closure": [ + "UPHENO:0000543", "HP:0000002", "GO:0040007", - "UPHENO:0049874", - "UPHENO:0081424", - "UPHENO:0000543", "HP:0001510", "HP:0001507", - "UPHENO:0012541", - "UPHENO:0088162", - "CL:0000329", - "CL:0000764", + "UPHENO:0081424", + "UPHENO:0069062", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0049874", "HP:0001877", "HP:0012130", + "CL:0000329", + "UPHENO:0088162", "GO:0005623", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", + "UPHENO:0049757", + "UPHENO:0050007", + "UPHENO:0050126", "GO:0010468", "GO:0010558", "GO:0031327", - "GO:0006325", - "UPHENO:0049748", - "GO:0031049", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "GO:0071840", + "UPHENO:0050065", + "UPHENO:0049642", "GO:0050794", "GO:0019222", "GO:0048519", - "GO:0006139", - "GO:1901360", - "GO:0043170", - "GO:0046483", - "UPHENO:0078606", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", "GO:0060255", - "GO:0009889", "GO:0048523", - "GO:0043933", - "UPHENO:0050845", - "CHEBI:33256", - "CHEBI:37622", - "CHEBI:50047", - "GO:0006725", - "UBERON:0001893", - "HP:0000924", - "HP:0010987", - "UPHENO:0081435", + "UPHENO:0050025", + "UPHENO:0050435", + "UPHENO:0049868", + "UPHENO:0050063", + "HP:0003220", + "GO:0031049", + "UPHENO:0078606", + "GO:0031052", + "GO:0009890", + "GO:0031324", + "HP:0003221", + "GO:0010629", + "UPHENO:0050040", + "CL:0000764", + "UPHENO:0050778", + "UPHENO:0081566", + "HP:0006254", + "UPHENO:0076799", + "UBERON:0000481", + "HP:0000152", + "UPHENO:0087907", + "GO:0031323", + "UBERON:0011138", + "UPHENO:0000541", + "HP:0001874", + "UPHENO:0069327", + "UBERON:0010323", + "HP:0012145", "UPHENO:0088170", - "GO:0044238", "UPHENO:0001001", - "UBERON:0034923", - "GO:0010605", - "GO:0009892", - "UPHENO:0080079", - "NCBITaxon:2759", - "HP:0004322", - "UBERON:0003129", - "UBERON:0001434", - "HP:0033127", - "UPHENO:0087123", - "UPHENO:0087089", - "HP:0000234", - "UPHENO:0088338", - "UBERON:0011676", - "UBERON:0000061", + "CHEBI:37622", + "HP:0040195", + "UPHENO:0001003", + "GO:0010556", + "PR:000050567", + "UPHENO:0080010", + "HP:0001911", + "UPHENO:0002764", + "PATO:0000001", "UPHENO:0075159", "HP:0100547", + "UPHENO:0075804", "UPHENO:0086019", "UPHENO:0011498", "UPHENO:0077822", - "UBERON:0011216", - "HP:0009121", - "CHEBI:15841", - "UPHENO:0020584", - "UPHENO:0087518", - "OBI:0100026", - "CL:0000766", - "HP:0002060", - "CL:0000988", - "BFO:0000020", - "HP:0011991", - "GO:0044237", - "HP:0002977", - "GO:0071704", - "CL:0000219", - "HP:0040012", - "UBERON:0004765", - "UBERON:0000467", - "UPHENO:0086005", + "UPHENO:0087123", + "HP:0011842", "UPHENO:0076703", - "UPHENO:0085354", - "PR:000018263", - "UBERON:0002193", - "CL:0001035", + "UPHENO:0063794", + "UPHENO:0049904", + "UPHENO:0077391", + "HP:0032251", + "UBERON:0001474", + "HP:0002011", + "UPHENO:0003004", + "UBERON:0002204", + "UPHENO:0049743", + "UPHENO:0001002", + "UBERON:0001434", + "UPHENO:0077418", + "UPHENO:3000000", + "HP:0009121", + "BFO:0000004", + "CHEBI:36962", + "UPHENO:0002948", + "CHEBI:33256", + "UPHENO:0076805", + "HP:0025461", + "UBERON:0034923", + "UBERON:0004288", "UPHENO:0081423", "UBERON:0015203", - "UPHENO:0022529", - "UBERON:0004120", - "UPHENO:0088166", - "BFO:0000001", - "UBERON:0007811", - "CL:0000255", - "CL:0000738", - "UPHENO:0049700", - "HP:0001911", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0002405", - "UBERON:0000179", - "GO:0006807", - "UPHENO:0006910", - "CL:0002242", - "GO:0010556", - "PR:000050567", - "UPHENO:0085076", - "BFO:0000003", + "CHEBI:36963", + "UPHENO:0002816", + "HP:0000001", "UPHENO:0085356", + "UPHENO:0002530", + "UBERON:0001893", + "UPHENO:0077399", + "UBERON:0001015", + "UPHENO:0077817", + "CL:0002242", "UPHENO:0076675", - "CHEBI:36962", - "UPHENO:0002948", + "UPHENO:0003025", "HP:0001871", - "HP:0011842", - "UPHENO:0075696", "CL:0000000", - "UPHENO:0086045", - "UBERON:0010323", "UPHENO:0086016", - "HP:0032251", - "UPHENO:0000541", - "HP:0001874", - "GO:0031323", - "UBERON:0011138", - "UPHENO:0004459", - "CL:0000233", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0076702", - "UBERON:0000481", - "UPHENO:0076799", - "CL:0000763", - "CL:0000458", - "HP:0000001", - "UPHENO:0051612", - "UPHENO:0085189", - "UPHENO:0076805", - "HP:0025461", - "CHEBI:33304", - "UBERON:0013702", - "HP:0001873", - "CHEBI:36963", - "GO:0090304", - "UPHENO:0015280", - "HP:0045056", - "HP:0025354", - "UPHENO:0082943", - "UPHENO:0085371", - "CL:0000457", - "UBERON:0000073", - "HP:0000929", - "UBERON:0000955", - "UPHENO:0085344", - "HP:0001881", "UBERON:0004121", - "UPHENO:0088335", - "GO:0006996", - "HP:0001939", - "HP:0032309", + "NCBITaxon:2759", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0002405", + "GO:0009892", + "GO:0010605", + "UPHENO:0080079", + "UPHENO:0077348", + "UPHENO:0002525", "GO:0065007", - "UPHENO:0085070", "HP:0010974", + "UPHENO:0002553", "HP:0012443", - "UPHENO:0088318", - "UPHENO:0084928", - "HP:0000118", - "UBERON:0000033", - "UBERON:0000178", + "UBERON:0011216", + "HP:0040012", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0000061", + "UPHENO:0085344", + "HP:0001881", "UPHENO:0063722", "HP:0001872", "HP:0032180", - "UPHENO:0086176", - "UPHENO:0004523", - "UPHENO:0002764", - "UPHENO:0085405", - "HP:0011875", + "HP:0000924", + "HP:0010987", + "UBERON:0000383", + "CL:0000766", + "UBERON:0011137", + "BFO:0000020", "HP:0430071", - "UPHENO:0085042", - "GO:0050789", - "UBERON:0013701", - "UPHENO:0001003", + "UPHENO:0002963", + "HP:0002715", + "UPHENO:0002736", + "CL:0001035", + "UBERON:0002193", + "CL:0002092", + "HP:0020047", + "HP:0011893", + "GO:0009889", + "UPHENO:0002548", + "PR:000064867", + "HP:0033127", + "UBERON:0000062", + "CL:0000219", "UPHENO:0080200", "UBERON:0001890", - "UPHENO:0046362", - "CL:0000094", - "HP:0007364", - "CHEBI:24431", "UBERON:0000468", - "UPHENO:0075195", - "GO:0034641", - "HP:0011893", - "PR:000064867", - "PATO:0000001", - "UBERON:0001062", - "UPHENO:0088321", - "UBERON:0010314", - "UPHENO:0085118", - "HP:0002715", - "UPHENO:0001002", - "UPHENO:0049587", - "UPHENO:0002844", - "NCBITaxon:33154", - "UPHENO:0076791", - "UPHENO:0086589", + "UPHENO:0085371", + "CL:0000457", + "HP:0025354", + "UBERON:0000178", + "UBERON:0000033", + "HP:0001875", + "UPHENO:0002964", + "UPHENO:0004459", + "CL:0000233", + "UPHENO:0080351", + "UPHENO:0076286", + "UBERON:0004120", + "HP:0000118", + "UPHENO:0011536", + "UBERON:0002371", "NCBITaxon:33208", "UPHENO:0076692", "UPHENO:0002536", - "UPHENO:0085984", - "CHEBI:51143", - "HP:0001875", - "UPHENO:0077426", + "UPHENO:0088166", + "BFO:0000001", + "UPHENO:0002554", + "CL:0000081", + "CHEBI:35352", + "UPHENO:0006894", + "UBERON:0010314", + "UBERON:0001062", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0003129", + "CL:0000738", + "UBERON:0000479", + "CL:0000255", + "UPHENO:0051612", + "UPHENO:0085354", + "PR:000018263", + "CHEBI:15841", + "UPHENO:0049775", + "HP:0032309", + "HP:0033405", + "BFO:0000040", + "UPHENO:0063787", "UBERON:0002390", "UBERON:0010000", "HP:0000252", - "UPHENO:0081566", - "HP:0006254", + "CL:0000763", + "CL:0000458", + "NCBITaxon:6072", "GO:0031326", "UBERON:0002090", "CHEBI:23367", - "UPHENO:0002964", - "UPHENO:0086172", - "HP:0000707", - "HP:0000152", - "UPHENO:0087907", + "UPHENO:0003001", + "UPHENO:0002746", + "UPHENO:0086176", + "UPHENO:0004523", "NCBITaxon:131567", - "UBERON:0011137", - "UBERON:0002204", - "UPHENO:0001005", - "HP:0040195", - "NCBITaxon:6072", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0051936", - "GO:0016043", - "HP:0002011", - "HP:0012145", - "BFO:0000002", - "HP:0012639", - "UPHENO:0051804", + "HP:0005561", + "UBERON:0000153", + "HP:0011991", + "UPHENO:0002902", + "UPHENO:0076791", + "UPHENO:0086589", + "UBERON:0011676", + "CHEBI:36357", + "UBERON:0001016", + "GO:0050789", + "UBERON:0013701", + "UPHENO:0050784", + "CL:0000094", + "HP:0007364", + "CHEBI:24431", + "NCBITaxon:33154", + "CL:0000988", + "HP:0002060", + "UPHENO:0087518", + "OBI:0100026", + "CHEBI:33304", + "UBERON:0013702", + "HP:0001873", + "UBERON:0007811", + "HP:0000234", + "UPHENO:0076702", + "UPHENO:0075195", "HP:0000240", "UBERON:0000475", - "HP:0001903", - "UPHENO:0088176", - "UBERON:0005944", - "UBERON:0034925", - "BFO:0000040", - "HP:0033405", + "UPHENO:0051804", + "UPHENO:0046383", + "BFO:0000002", + "HP:0012639", + "UPHENO:0089764", "CL:0000775", "UBERON:0000075", - "UPHENO:0051680", "CL:0000225", "UBERON:0010912", - "UBERON:0000062", - "UPHENO:0086049", - "HP:0011017", - "PR:000000001", + "HP:0000929", + "UBERON:0000955", + "UBERON:0000073", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0002926", + "UPHENO:0069254", + "UPHENO:0075220", "UPHENO:0086173", + "HP:0011875", + "HP:0002977", + "UPHENO:0089759", + "UPHENO:0085302", + "UPHENO:0077373", "CL:0000151", "CL:0000232", + "UPHENO:0011531", "HP:0011873", - "UPHENO:0085302", - "UPHENO:0084987", - "UPHENO:0048707", - "HP:0020047", - "CL:0002092", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0087355", - "UPHENO:0049873", - "UBERON:0000153", - "HP:0005561", - "UPHENO:0085195", - "UPHENO:0087339", - "GO:0006259", - "UBERON:0001474", - "UBERON:0002371", - "UBERON:0004288", - "UPHENO:0085144", "HP:0005528", - "UPHENO:0035025", - "UBERON:0000479", - "CHEBI:33839", - "UBERON:0006314", - "CHEBI:36080", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0085330", + "GO:0008152", + "UBERON:0000463", + "UPHENO:0081581", + "CHEBI:32988", + "CHEBI:33285", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:33694", + "UPHENO:0077826", + "PR:000003809", + "UPHENO:0046378", + "NCBITaxon:1", + "CHEBI:33302", "UBERON:0000465", "CHEBI:33582", "CHEBI:16670", - "NCBITaxon:1", - "UPHENO:0046378", - "CHEBI:33302", - "UPHENO:0076289", - "UPHENO:0077826", - "PR:000003809", + "CHEBI:50047", + "UPHENO:0049620", + "UBERON:0006314", + "CHEBI:36080", "UBERON:0002616", "UPHENO:0048751", - "UBERON:0001016", - "CHEBI:36357", - "UPHENO:0077821", - "UBERON:0000463", - "HP:0010876", - "UPHENO:0085330", - "GO:0008152", + "UPHENO:0051763", + "BFO:0000003", "UPHENO:0046284", - "CHEBI:33694", - "CHEBI:25806", - "CHEBI:50860", - "UPHENO:0051801", - "CL:0000081", - "CHEBI:35352", - "UPHENO:0085068", - "CHEBI:32988", - "GO:0009987", - "CHEBI:33285", + "HP:0045056", + "CHEBI:33579", + "UPHENO:0048707", "BFO:0000015", + "CHEBI:33839", + "HP:0011017", + "UPHENO:0002976", + "PR:000000001", "CHEBI:33675", + "HP:0001903", + "UBERON:0005944", + "UBERON:0034925", + "UPHENO:0088176", + "GO:0042592", "CHEBI:16541", "UPHENO:0068971", "CHEBI:33695", - "UPHENO:0051763", - "UBERON:0001017", - "UPHENO:0081547", - "UPHENO:0020888", - "UPHENO:0077813", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "HP:0001939", "GO:0008150", + "HP:0010876", "HP:0004364", ], "has_phenotype_closure_label": [ - "Abnormality of body height", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "decreased size of the anatomical structure", + "growth", "Short stature", - "delayed biological_process", - "delayed growth", + "decreased height of the anatomical entity", "Growth delay", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "abnormal erythroid lineage cell morphology", - "abnormal erythrocyte morphology", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "delayed biological_process", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "Anemia", "Abnormal erythrocyte morphology", - "programmed DNA elimination", - "obsolete cell", - "abnormal metabolic process", - "Growth abnormality", - "programmed DNA elimination by chromosome breakage", - "negative regulation of biosynthetic process", - "protein-DNA complex organization", + "erythrocyte morphology phenotype", + "erythroid lineage cell morphology phenotype", "regulation of macromolecule metabolic process", "regulation of biosynthetic process", + "negative regulation of cellular process", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "biological regulation", + "regulation of cellular biosynthetic process", + "negative regulation of cellular metabolic process", + "Chromosome breakage", + "negative regulation of biological process phenotype", + "regulation of cellular process phenotype", + "negative regulation of gene expression phenotype", + "regulation of metabolic process phenotype", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "negative regulation of biological process", + "obsolete cell", + "regulation of cellular biosynthetic process phenotype", + "programmed DNA elimination", + "aplasia or hypoplasia of telencephalon", + "multi-tissue structure", + "craniocervical region morphology phenotype", + "Abnormal neutrophil count", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "blood cell", + "anatomical structure", + "musculature of body", + "nitrogen molecular entity", + "decreased size of the multicellular organism", + "telencephalon morphology phenotype", + "immune system morphology phenotype", + "multicellular organism height phenotype", + "cranial skeletal system", + "nucleate cell", + "postcranial axial skeletal system", + "multicellular anatomical structure phenotype", + "decreased number of granulocyte", + "negative regulation of biosynthetic process", + "blood cell phenotype", + "neutrophil", + "cell", + "negative regulation of macromolecule metabolic process phenotype", + "Morphological central nervous system abnormality", + "independent continuant", + "Abnormal granulocyte morphology", + "anatomical collection", + "nervous system phenotype", + "All", + "mesoderm-derived structure phenotype", + "bone element", + "skull phenotype", + "biological regulation phenotype", + "Abnormality of skull size", + "multicellular anatomical structure", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "material entity", + "organic amino compound", + "decreased number of material anatomical entity", + "hemolymphoid system", + "number of myeloid cell phenotype", "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "abnormal cellular metabolic process", - "abnormal organelle organization", - "cellular process", - "regulation of cellular biosynthetic process", - "biological regulation", - "regulation of gene expression", - "chromatin organization", - "abnormal cellular process", - "abnormal chromatin organization", - "Chromosome breakage", - "regulation of cellular metabolic process", - "regulation of metabolic process", + "musculature phenotype", + "Abnormal nervous system morphology", + "anatomical system phenotype", + "Neutropenia", + "musculoskeletal system", + "hematopoietic cell", + "decreased size of the anatomical entity", + "blood", + "growth phenotype", + "Abnormal granulocyte count", + "non-connected functional system", + "neutrophil phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "organism subdivision", + "number of anatomical enitites of type anatomical structure phenotype", + "negative regulation of gene expression", + "Phenotypic abnormality", + "blood organic molecular entity level phenotype", "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "macromolecule metabolic process", - "obsolete cellular aromatic compound metabolic process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "Abnormal skeletal morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", + "craniofacial/craniocervical phenotype", + "decreased number of hematopoietic cell", + "skull morphology phenotype", + "biological_process", + "granulocyte", + "skeletal system phenotype", "Abnormal leukocyte morphology", - "Morphological central nervous system abnormality", - "cell", - "neutrophil", - "abnormal postcranial axial skeleton morphology", + "decreased number of leukocyte", "Abnormality of the skeletal system", - "Abnormal granulocyte count", - "abnormally decreased number of neutrophil", - "abnormal craniocervical region morphology", - "regional part of nervous system", - "forebrain", - "abnormal biological_process", - "abnormal role bodily fluid level", - "multi-tissue structure", - "abnormal skeletal system", - "anterior region of body", - "craniocervical region", - "haemolymphatic fluid", - "body proper", - "aplasia or hypoplasia of telencephalon", - "anatomical entity", - "abnormal phenotype by ontology source", + "decreased number of cell", + "erythrocyte", + "organ system subdivision", "immune system", "myeloid cell", "organonitrogen compound", + "anatomical entity phenotype", "root", - "mesoderm-derived structure", - "macromolecule", - "organism", - "anatomical system", - "abnormal hematopoietic cell morphology", - "Abnormal neutrophil count", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal skull morphology", - "increased level of protein", - "organism subdivision", - "abnormally decreased number of leukocyte in the independent continuant", - "negative regulation of cellular biosynthetic process", - "main group molecular entity", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal hematopoietic system", - "disconnected anatomical group", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal immune system", - "Abnormal leukocyte count", - "decreased size of the anatomical entity in the independent continuant", - "secretory cell", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "abnormally decreased number of granulocyte in the independent continuant", - "non-connected functional system", - "granulocyte", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular anatomical structure", - "Abnormality of neutrophils", - "Abnormality of skull size", - "quality", - "musculoskeletal system", - "Abnormal cell morphology", - "phenotype", - "Abnormal nervous system morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "bone element", - "abnormal cell", - "abnormal programmed DNA elimination by chromosome breakage", - "organochalcogen compound", - "oxygen accumulating cell", - "protein", - "abnormally decreased number of cell", - "oxygen molecular entity", - "nervous system", - "anatomical collection", - "All", + "chemical entity", + "structure with developmental contribution from neural crest phenotype", + "material anatomical entity", + "Abnormal platelet count", "Decreased head circumference", - "abnormal granulocyte morphology", - "abnormal brain morphology", + "Abnormal myeloid leukocyte morphology", + "skull", + "anatomical structure phenotype", + "Abnormality of the head", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "eukaryotic cell", + "hematopoietic system phenotype", + "ectoderm-derived structure phenotype", + "blood chemical entity level phenotype", + "blood oxygen molecular entity level phenotype", "Abnormal cellular immune system morphology", - "tissue", - "amino acid chain", - "abnormal axial skeleton plus cranial skeleton morphology", + "myeloid leukocyte", + "telencephalon phenotype", "organic molecular entity", "hematopoietic system", "multicellular organism", "primary amide", - "abnormal cell morphology", - "abnormal nervous system morphology", - "negative regulation of macromolecule biosynthetic process", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal alpha-fetoprotein level", - "material entity", - "organic amino compound", - "abnormal immune system morphology", - "protein-containing molecular entity", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal circulating organic compound concentration", - "nitrogen molecular entity", - "anatomical structure", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "myeloid leukocyte", - "biological_process", - "phenotype by ontology source", - "anucleate cell", - "abnormally decreased number of cell in the independent continuant", - "Neutropenia", - "structure with developmental contribution from neural crest", - "abnormal neutrophil", - "ectoderm-derived structure", - "abnormally decreased number of hematopoietic cell", - "pnictogen molecular entity", - "main body axis", - "regulation of macromolecule biosynthetic process", - "abnormally decreased number of granulocyte", - "Abnormal circulating metabolite concentration", - "abnormal nervous system", - "abnormal number of anatomical enitites of type neutrophil", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", - "abnormal DNA metabolic process", - "blood cell", - "chemical entity", - "abnormal myeloid cell morphology", - "erythrocyte", - "organ system subdivision", - "abnormal blood cell", - "eukaryotic cell", - "hematopoietic cell", - "abnormal blood alpha-fetoprotein level", - "hemolymphoid system", - "skeletal system", - "motile cell", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "Abnormal granulocyte morphology", "subdivision of organism along main body axis", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "Elevated circulating alpha-fetoprotein concentration", - "skull", - "Abnormality of brain morphology", + "material anatomical entity phenotype", + "blood nitrogen molecular entity level phenotype", + "anatomical entity", + "disconnected anatomical group", + "bone marrow", + "immune system phenotype", + "skeleton", + "postcranial axial skeleton", + "number of hematopoietic cell phenotype", + "subdivision of skeletal system phenotype", + "Abnormal myeloid cell morphology", + "number of anatomical enitites of type neutrophil phenotype", + "Abnormal leukocyte count", + "secretory cell", + "motile cell", + "skeletal system", + "regulation of cellular metabolic process phenotype", + "pnictogen molecular entity", + "Eumetazoa", + "Eukaryota", + "bone marrow cell", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "blood alpha-fetoprotein level phenotype", + "leukocyte morphology phenotype", + "decreased number of anatomical structure", + "regulation of gene expression phenotype", + "bone cell", + "polypeptide", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "size of skull phenotype", + "anatomical entity morphology phenotype", + "skeletal system morphology phenotype", + "cell phenotype", + "mesoderm-derived structure", + "macromolecule", + "granulocyte morphology phenotype", + "organism substance", + "taxon specific phenotype", + "regulation of macromolecule metabolic process phenotype", + "Bone marrow hypocellularity", + "skeletal element", + "regional part of nervous system phenotype", + "phenotype", + "Abnormal cell morphology", + "number of anatomical enitites of type material anatomical entity phenotype", "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", + "Abnormal bone marrow cell morphology", "information biomacromolecule", - "nucleate cell", - "postcranial axial skeletal system", - "material anatomical entity", - "Abnormal platelet count", - "abnormal platelet morphology", - "growth", - "abnormally decreased number of anatomical entity in the independent continuant", - "serotonin secreting cell", - "Opisthokonta", - "telencephalon", - "axial skeletal system", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormality of head or neck", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "abnormal bone marrow morphology", - "skeleton", - "bone marrow", + "number of anatomical enitites of type granulocyte phenotype", + "Abnormal cellular phenotype", + "negative regulation of cellular process phenotype", + "decreased number of anatomical entity", + "decreased number of platelet", + "quality", + "anatomical system", + "Abnormality of thrombocytes", + "number of cell phenotype", "cellular organisms", + "Abnormal brain morphology", "polyatomic entity", + "Abnormality of neutrophils", + "multi-tissue structure phenotype", + "central nervous system", + "tissue", + "amino acid chain", + "craniocervical region", + "haemolymphatic fluid", + "regulation of biosynthetic process phenotype", + "subdivision of organism along main body axis phenotype", + "homeostatic process phenotype", + "brain morphology phenotype", + "aplasia or hypoplasia of anatomical entity", + "protein-containing material entity", + "regional part of brain phenotype", + "forebrain", + "regional part of nervous system", + "organism", + "Microcephaly", + "Aplasia/Hypoplasia involving the central nervous system", + "head morphology phenotype", + "phenotypic effect", + "size of anatomical entity phenotype", + "regulation of biological process", + "nervous system morphology phenotype", + "telencephalon", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "central nervous system morphology phenotype", + "axial skeletal system", + "specifically dependent continuant", + "Abnormal cerebral morphology", "Metazoa", - "Abnormality of the nervous system", "axial skeleton plus cranial skeleton", - "decreased size of the anatomical entity", - "blood", - "postcranial axial skeleton", - "abnormal craniocervical region", - "Eumetazoa", - "Eukaryota", - "subdivision of skeleton", - "abnormal telencephalon morphology", - "central nervous system", + "Abnormality of the nervous system", + "organism subdivision phenotype", + "role blood level phenotype", + "nervous system", + "anterior region of body", + "myeloid leukocyte phenotype", + "main body axis", + "decreased size of the material anatomical entity", + "biological_process phenotype", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "Abnormal circulating metabolite concentration", + "multicellular organism morphology phenotype", + "Aplasia/Hypoplasia of the cerebrum", + "blood protein polypeptide chain level phenotype", + "musculature", + "decreased number of neutrophil", "regional part of brain", - "abnormal anatomical entity morphology in the independent continuant", "brain", - "abnormal size of skull", - "Abnormal forebrain morphology", - "Abnormality of the immune system", - "Thrombocytopenia", - "Abnormality of the head", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "abnormal blood chemical entity level", - "abnormal platelet", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "Bone marrow hypocellularity", - "skeletal element", - "Anemia", - "abnormal bone marrow cell", - "Abnormality of bone marrow cell morphology", - "bone cell", - "polypeptide", - "bone marrow cell", - "abnormal blood protein polypeptide chain level", - "abnormal hematopoietic system morphology", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abnormal role independent continuant level", - "abnormal number of anatomical enitites of type hematopoietic cell", - "process", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "DNA metabolic process", - "carboxamide", - "Abnormal circulating alpha-fetoprotein concentration", + "subdivision of skeleton", + "Abnormality of head or neck", + "Abnormal skull morphology", + "Opisthokonta", + "anucleate cell", + "platelet phenotype", + "programmed DNA elimination by chromosome breakage phenotype", + "bodily fluid", + "Abnormal immune system morphology", + "number of platelet phenotype", + "blood organic amino compound level phenotype", + "biogenic amine secreting cell", + "Chromosomal breakage induced by crosslinking agents", + "forebrain morphology phenotype", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "negative regulation of cellular biosynthetic process", + "main group molecular entity", "Abnormality of metabolism/homeostasis", - "abnormal role blood level", - "increased level of alpha-fetoprotein", - "abnormal head morphology", - "abnormal independent continuant protein polypeptide chain level", - "chalcogen molecular entity", "Abnormal cellular physiology", - "organic substance metabolic process", "increased level of chemical entity", - "organ", - "occurrent", - "Abnormality of multiple cell lineages in the bone marrow", - "carbon group molecular entity", - "abnormal independent continuant chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant alpha-fetoprotein level", - "abnormal independent continuant protein level", "head", + "chemical entity level phenotype", "amide", + "number of leukocyte phenotype", "platelet", "organooxygen compound", - "abnormal multicellular organism chemical entity level", - "abnormal chemical entity level", - "organism substance", - "biogenic amine secreting cell", - "cellular metabolic process", - "continuant", - "protein polypeptide chain", + "peptide", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "body proper", + "nitrogen molecular entity level phenotype", + "Abnormal circulating nitrogen compound concentration", + "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "serotonin secreting cell", + "homeostatic process", + "oxygen accumulating cell", + "protein", + "increased level of alpha-fetoprotein", + "Abnormal circulating alpha-fetoprotein concentration", "p-block molecular entity", "biomacromolecule", "heteroorganic entity", "Abnormal platelet morphology", "alpha-fetoprotein", - "entity", + "chalcogen molecular entity", + "role bodily fluid level phenotype", + "metabolic process", + "continuant", + "protein polypeptide chain", + "alpha-fetoprotein level phenotype", + "organ", + "occurrent", + "regulation of biological process phenotype", "subdivision of skeletal system", + "entity", "Abnormal circulating protein concentration", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal protein level", - "metabolic process", - "bodily fluid", - "abnormal blood nitrogen molecular entity level", + "decreased number of myeloid cell", "Abnormal circulating organic amino compound concentration", - "peptide", - "cellular component organization or biogenesis", + "process", + "craniocervical region phenotype", + "Elevated circulating alpha-fetoprotein concentration", ], }, { - "id": "MONDO:0012565", + "id": "MONDO:0014987", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group N", - "xref": ["DOID:0111094", "GARD:15500", "MESH:C563657", "OMIM:610832", "UMLS:C1835817"], + "name": "Fanconi anemia complementation group U", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.", + "xref": ["DOID:0111085", "GARD:16215", "MEDGEN:934618", "OMIM:617247", "UMLS:C4310651"], "synonym": [ - "FANCN", - "Fanconi Anemia, complementation group type N", - "Fanconi anaemia caused by mutation in PALB2", - "Fanconi anaemia complementation group type N", - "Fanconi anemia caused by mutation in PALB2", - "Fanconi anemia complementation group N", - "Fanconi anemia complementation group type N", - "Fanconi anemia, complementation group N", - "PALB2 Fanconi anaemia", - "PALB2 Fanconi anemia", + "FANCU", + "Fanconi Anemia, complementation group U", + "Fanconi Anemia, complementation group type U", + "Fanconi anaemia caused by mutation in XRCC2", + "Fanconi anaemia complementation group type U", + "Fanconi anemia caused by mutation in XRCC2", + "Fanconi anemia complementation group type U", + "Fanconi anemia, complementation GROUP U", + "XRCC2 Fanconi anaemia", + "XRCC2 Fanconi anemia", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0000470", - "HP:0002984", "HP:0009777", - "HP:0002667", - "HP:0000252", - "HP:0004808", - "HP:0002885", - "HP:0001631", - "HP:0009778", - "HP:0000125", - "HP:0000568", - "HP:0001518", - "HP:0001915", - "HP:0003221", - "HP:0003006", + "HP:0040012", "HP:0000086", - "HP:0000957", - "HP:0002023", - "HP:0000316", - "HP:0008897", - "HP:0000953", - "HP:0001629", - "HP:0000085", - "HP:0000122", - "HP:0000286", + "HP:0000252", + "HP:0002984", + "HP:0003974", + "HP:0001510", + "HP:0001643", + "HP:0012799", + "HP:0010035", + "HP:0011835", ], "has_phenotype_label": [ - "Short neck", - "Hypoplasia of the radius", "Absent thumb", - "Nephroblastoma", - "Microcephaly", - "Acute myeloid leukemia", - "Medulloblastoma", - "Atrial septal defect", - "Short thumb", - "Pelvic kidney", - "Microphthalmia", - "Small for gestational age", - "Aplastic anemia", - "Chromosomal breakage induced by crosslinking agents", - "Neuroblastoma", + "Chromosome breakage", "Ectopic kidney", - "Cafe-au-lait spot", - "Anal atresia", - "Hypertelorism", - "Postnatal growth retardation", - "Hyperpigmentation of the skin", - "Ventricular septal defect", - "Horseshoe kidney", - "Unilateral renal agenesis", - "Epicanthus", + "Microcephaly", + "Hypoplasia of the radius", + "Absent radius", + "Growth delay", + "Patent ductus arteriosus", + "Unilateral facial palsy", + "Aplasia of the 1st metacarpal", + "Absent scaphoid", ], - "has_phenotype_count": 25, + "has_phenotype_count": 11, "has_phenotype_closure": [ - "UPHENO:0076761", - "UBERON:0001457", - "UPHENO:0021791", - "UPHENO:0087058", - "UPHENO:0087307", - "UBERON:0013766", - "UBERON:0000014", - "UPHENO:0075878", - "UPHENO:0087928", - "UBERON:0001711", - "HP:0032039", - "UBERON:0034921", - "HP:0000286", - "HP:0030669", - "HP:0000492", - "UPHENO:0025100", - "UPHENO:0026980", - "UPHENO:0008593", - "HP:0000122", - "UPHENO:0041075", - "HP:0000085", - "UPHENO:0041821", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", - "UPHENO:0041629", - "UPHENO:0033604", - "HP:0010438", - 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"UPHENO:0025808", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UPHENO:0026095", + "UPHENO:0025545", + "UPHENO:0025955", + "UPHENO:0025883", + "UBERON:0001637", + "UPHENO:0025547", + "UPHENO:0008640", + "UBERON:0001436", "GO:0010468", - "UBERON:0012180", - "HP:0003221", - "UPHENO:0050116", - "UPHENO:0050021", - "UPHENO:0050121", - "UPHENO:0049990", + "UPHENO:0012440", + "UPHENO:0000541", + "UBERON:0010543", + "HP:0001507", + "UPHENO:0000543", + "UBERON:0005177", + "UPHENO:0087334", + "UBERON:0008785", + "UPHENO:0002668", + "HP:0000118", + "UBERON:0003834", + "HP:0010242", + "UBERON:0007100", + "UBERON:0003620", + "UPHENO:0033603", + "UBERON:0013630", + "UBERON:0034923", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0005181", ], "has_phenotype_closure_label": [ - "skin of head", - "eyelid", - "increased length of the epicanthal fold", - "ocular adnexa", - "abnormal zone of skin morphology", - "abnormal skin of face morphology", - "Abnormal eyelid morphology", - "abnormal skin of head morphology", - "upper eyelid", - "Abnormal ocular adnexa morphology", - "epicanthal fold", - "abnormal ocular adnexa", - "Abnormality of the ocular adnexa", - "absent anatomical entity in the renal system", - "Renal agenesis", - "absent kidney", - "Horseshoe kidney", - "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", - "Abnormal ventricular septum morphology", - "interventricular septum", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal interventricular septum morphology", - "delayed biological_process", - "Postnatal growth retardation", - "anatomical line", - "immaterial anatomical entity", - "abnormal location of eyeball of camera-type eye", + "Abnormality of the wrist", + "absent proximal mesopodial bone", + "Carpal bone aplasia", + "carpal bone phenotype", + "proximal mesopodial endochondral element phenotype", + "Aplasia/Hypoplasia involving the carpal bones", + "absent mesopodium bone", + "proximal mesopodial bone phenotype", + "absent proximal carpal endochondral element", + "aplastic carpal bone", + "mesopodium bone phenotype", + "skeletal joint phenotype", + "skeletal joint morphology in the pectoral complex phenotype", + "absent mesopodium bone in the limb", + "carpal region phenotype", + "absent proximal carpal bone", + "Abnormality of the scaphoid", + "carpal region", + "absent radiale", + "absent short bone in the limb", + "mesopodium region phenotype", + "carpus endochondral element", + "skeletal joint", "multi organ part structure", - "increased length of the anatomical line between pupils", - "Hypertelorism", - "increased anatomical entity length in independent continuant", - "Abnormality of globe location", - "tube", - "abnormal closing of the anatomical entity", - "Abnormality of the anus", - "digestive tract", - "anatomical entity atresia", - "abnormal integument", - "abnormal pigmentation in independent continuant", - "changed biological_process rate in independent continuant", - "absent kidney in the renal system", - "Hypermelanotic macule", - "Abnormality of skin morphology", - "abnormal skin of body", - "pigmentation", - "Macule", - "Abnormality of skin pigmentation", - "increased qualitatively biological_process", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "increased pigmentation in independent continuant", - "Localized skin lesion", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "integument", - "integumental system", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased biological_process in skin of body", - "increased biological_process", - "changed biological_process rate", - "limb long bone", + "carpal bone morphology phenotype", + "Absent scaphoid", + "proximal mesopodial bone", + "proximal carpal endochondral element", + "short bone", + "Abnormality of upper limb joint", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "absent autopod endochondral element in the limb", + "absent skeletal element in the metacarpus region", + "absent anatomical structure in the metacarpus region", + "absent carpus endochondral element in the limb", + "absent autopod bone in the metacarpus region", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Aplasia of the proximal phalanges of the hand", + "metapodium bone 1 phenotype", + "manual digit 1 metacarpus endochondral element phenotype", + "metacarpal bone morphology phenotype", + "manual digit bone phenotype", + "Abnormal finger phalanx morphology", + "absent metapodium bone", + "aplasia or hypoplasia of phalanx of manus", + "proximal carpal endochondral element phenotype", + "absent digitopodium bone", + "phalanx of manus phenotype", + "Abnormal metacarpal morphology", + "absent manual digitopodium bone in the metacarpus region", + "aplastic metacarpal bone of digit 1", + "absent endochondral bone in the metacarpus region", + "absent metacarpal bone in the metacarpus region", + "absent bone of appendage girdle complex in the metacarpus region", + "Aplasia of metacarpal bones", + "absent manus bone in the metacarpus region", + "manual digit 1 phalanx endochondral element phenotype", + "metapodium bone phenotype", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "metapodium bone 1", + "proximal phalanx", + "proximal phalanx of manus", + "Partial absence of thumb", + "Aplasia of the 1st metacarpal", + "autopod bone phenotype", + "absent anatomical entity in the metacarpus region", + "absent limb endochondral element in the metacarpus region", + "absent manus bone in the limb", + "manual digit phalanx endochondral element phenotype", + "autopod endochondral element phenotype", + "absent limb long bone in the metacarpus region", + "phalanx phenotype", + "absent manus bone", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "absent bone of pectoral complex in the metacarpus region", + "Abnormality of thumb phalanx", + "phalanx endochondral element", + "manual digit metacarpus endochondral element", + "manual digit phalanx endochondral element", + "absent long bone in the metacarpus region", + "proximal carpal bone", + "digitopodium bone phenotype", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "absent autopod bone in the limb", + "manual digit 1 metacarpus endochondral element", + "manual digit 1 phalanx phenotype", + "absent manual digit metacarpus endochondral element in the metacarpus region", + "metacarpal bone of digit 1", + "skeleton of manual acropodium", + "digitopodium bone", + "metapodium bone", + "skeleton of digitopodium", + "absent mesoderm-derived structure in the metacarpus region", + "absent metapodium bone in the metacarpus region", + "facial nerve", + "cranial neuron projection bundle", + "decreased muscle organ strength", + "Abnormal seventh cranial physiology", + "peripheral nervous system", + "neuron projection bundle", + "muscle structure physiology phenotype", + "lateral structure physiology phenotype", + "nerve phenotype", + "muscle organ phenotype", + "material anatomical entity physiology phenotype", + "multi cell part structure phenotype", + "muscle organ morphology phenotype", + "Cranial nerve paralysis", + "neuron projection bundle phenotype", + "axial musculature", + "face phenotype", + "Unilateral facial palsy", + "skeletal muscle organ, vertebrate phenotype", + "paralysed anatomical entity", + "Aplasia/Hypoplasia involving the metacarpal bones", + "Abnormality of facial soft tissue", + "metapodial skeleton", + "cranial neuron projection bundle phenotype", + "skeletal musculature", + "muscle structure", + "multicellular anatomical structure physiology phenotype", + "paralysed cranial nerve", + "cranial muscle phenotype", + "Abnormality of the musculature", + "Abnormal skeletal muscle morphology", + "cranial or facial muscle phenotype", + "cranial or facial muscle", + "Abnormal peripheral nerve morphology by anatomical site", + "Weakness of facial musculature", + "skeletal joint morphology phenotype", + "facial muscle", + "absent autopod endochondral element", + "craniocervical muscle", + "anatomical structure physiology phenotype", + "Abnormal cranial nerve physiology", + "peripheral nervous system phenotype", + "Abnormal nervous system physiology", + "muscle organ physiology phenotype", + "musculature of face", + "skeletal musculature of head", + "cranial nerve physiology phenotype", + "anatomical system physiology phenotype", + "aplastic manual digit 1 phalanx", + "muscle organ", + "craniocervical muscle phenotype", + "decreased anatomical entity strength", + "subdivision of head phenotype", + "nervous system physiology phenotype", + "manual digit bone", + "Abnormal morphology of the great vessels", + "material anatomical entity morphology in the heart phenotype", + "artery morphology phenotype", + "Abnormal heart morphology", + "Congenital malformation of the great arteries", + "systemic arterial system", + "Abnormal cardiovascular system morphology", + "vascular system", + "heart morphology phenotype", + "Abnormality of the vasculature", + "vessel phenotype", + "incomplete closing of the coronary vessel", + "cranial nerve", + "ductus arteriosus morphology phenotype", + "circulatory organ", + "Abnormality of the cardiovascular system", + "incomplete closing of the vessel", + "incomplete closing of the heart blood vessel", + "blood vessel morphology phenotype", + "incomplete closing of the multicellular anatomical structure", + "incomplete closing of the anatomical structure", + "incomplete closing of the systemic artery", + "anatomical conduit", + "incomplete closing of the ductus arteriosus", + "manual digit 1 phalanx", + "artery phenotype", + "anatomical cluster phenotype", + "trunk blood vessel", + "arterial blood vessel", + "great vessel of heart", + "anatomical cluster", + "carpus endochondral element phenotype", + "incomplete closing of the arterial blood vessel", + "trunk blood vessel phenotype", + "anatomical conduit phenotype", + "mesopodium region", + "aplasia or hypoplasia of metacarpal bone", + "systemic artery", + "phalanx", + "vasculature of organ", + "nerve", + "heart plus pericardium", + "vasculature of trunk", + "heart blood vessel", + "arterial system", + "disconnected anatomical group", + "great vessel of heart morphology phenotype", + "heart vasculature", + "ductus arteriosus", + "incomplete closing of the thoracic segment blood vessel", + "Abnormality of the peripheral nervous system", + "compound organ", "zeugopodial skeleton", - "regional part of nervous system", - "abnormal genitourinary system", - "Neoplasm", - "excretory system", - "abnormal kidney", - "abnormal central nervous system morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "Embryonal renal neoplasm", - "Abnormality of the upper urinary tract", - "Abnormality of the eye", + "absent carpus endochondral element", + "limb long bone", + "absent organ in the multicellular organism", + "blood vessel", + "outflow tract", + "Ectopic kidney", + "Abnormal renal morphology", + "localised abdominal segment element", + "genitourinary system", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "Abnormal localization of kidney", + "programmed DNA elimination by chromosome breakage", + "size of skull phenotype", "trunk region element", "pectoral complex", - "acropodium region", - "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal immune system morphology", - "compound organ", - "eye", - "autopodial skeleton", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 1 morphology", - "Short thumb", - "absent anatomical entity", - "absent anatomical entity in the independent continuant", - "regulation of biosynthetic process", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", - "cellular process", - "Hematological neoplasm", - "Medulloblastoma", - "agenesis of anatomical entity", - "digit", - "abnormal digit morphology", - "skeleton of manus", - "abnormal digit", - "cellular organisms", - "thoracic segment of trunk", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", + "subdivision of skeletal system", + "entity", + "manual digit 1 phalanx endochondral element", + "forelimb zeugopod bone morphology phenotype", + "renal system phenotype", + "absent endochondral bone in the limb", + "short bone phenotype", + "acropodial skeleton", + "Abnormal muscle physiology", + "autopod region morphology phenotype", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "Abnormality of the upper urinary tract", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "localised multicellular anatomical structure", + "gustatory system", + "main body axis", + "negative regulation of biological process phenotype", + "Abnormal cellular phenotype", + "segment of autopod", + "opening of the anatomical entity", + "cell phenotype", + "kidney phenotype", + "skeletal system morphology phenotype", + "cell", + "limb", + "Abnormality of the upper limb", + "skeletal element", + "zeugopod", + "regulation of biosynthetic process phenotype", + "cranial muscle", + "subdivision of organism along main body axis phenotype", + "absent limb bone in the limb", + "aplasia or hypoplasia of proximal phalanx of manus", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "negative regulation of macromolecule metabolic process phenotype", + "homeostatic process", + "cardiovascular system phenotype", + "localised abdomen element", + "Muscle weakness", + "digit phenotype", + "musculature phenotype", + "Abnormal finger morphology", + "aplasia or hypoplasia of radius bone", + "absent bone of pectoral complex in the forelimb", + "phalanx morphology phenotype", + "Eumetazoa", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "articular system", + "negative regulation of biological process", + "absent material anatomical entity in the limb", + "phalanx endochondral element phenotype", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "absent carpal bone in the limb", + "metacarpal bone", + "occurrent", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "endochondral bone phenotype", + "skeletal system phenotype", + "digit plus metapodial segment", + "appendage", + "anatomical entity phenotype", + "root", + "decreased length of organ", + "musculoskeletal system", + "localised anatomical structure", + "proximal mesopodial endochondral element", "Absent thumb", - "abnormal autopod region morphology", + "cavitated compound organ phenotype", + "mesopodium bone", + "bone of free limb or fin", "aplastic anatomical entity", - "abnormal anatomical entity morphology in the manus", + "incomplete closing of the trunk blood vessel", + "anterior region of body", "cardiovascular system", - "interatrial septum", - "abnormal manus", - "Nephroblastoma", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal appendicular skeleton morphology", - "manual digit", - "Abnormal eye morphology", - "Abnormal morphology of the radius", - "zone of skin", - "forelimb skeleton", - "genitourinary system", - "forelimb zeugopod", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal digestive system", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "paired limb/fin skeleton", - "arm", - "bone of appendage girdle complex", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "manual digit plus metapodial segment", - "macromolecule metabolic process", + "absent skeletal element", + "All", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "absent carpal bone", + "nervous system phenotype", + "Aplasia involving bones of the extremities", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "manual digit morphology in the manus phenotype", + "localised cavitated compound organ", + "systemic artery phenotype", + "forelimb zeugopod morphology phenotype", + "metacarpal bone of digit 1 phenotype", + "Upper limb undergrowth", + "skeleton of pectoral complex", + "paired limb/fin segment", + "absent multicellular anatomical structure", + "Opisthokonta", + "Eukaryota", + "negative regulation of cellular metabolic process", + "abdomen element", + "incomplete closing of the artery", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "proximal carpal bone phenotype", + "manual digit metacarpus endochondral element phenotype", + "arterial blood vessel phenotype", + "absent material anatomical entity in the multicellular organism", + "forelimb endochondral element", + "Phenotypic abnormality", + "carpal bone", + "negative regulation of gene expression", + "regulation of metabolic process phenotype", + "multicellular anatomical structure phenotype", + "bone element phenotype", + "Abnormal carpal morphology", + "mesopodial skeleton", + "multi-limb segment region phenotype", + "mesoderm-derived structure morphology in the heart phenotype", + "number of anatomical enitites of type endochondral bone phenotype", + "absent autopod bone", + "regulation of macromolecule metabolic process", + "upper limb segment phenotype", + "endochondral element phenotype", + "absent organ in the metacarpus region", + "organism subdivision phenotype", + "appendage phenotype", + "skeleton of limb", + "Aplasia involving forearm bones", + "negative regulation of cellular process phenotype", + "absent manual digit metacarpus endochondral element", + "anatomical entity morphology in the skeleton of manus phenotype", + "material anatomical entity", + "structure with developmental contribution from neural crest phenotype", + "incomplete closing of the anatomical entity", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "manual digitopodium bone phenotype", + "absent anatomical structure in the forelimb", + "aplasia or hypoplasia of manual digit 1", + "bone of pectoral complex phenotype", + "viscus", + "decreased size of the skeletal element", "appendicular skeleton", - "Unilateral renal agenesis", "upper limb segment", - "head or neck skin", - "abnormal forelimb zeugopod bone", + "multi cell part structure", + "limb phenotype", + "paired limb/fin skeleton", + "carpal skeleton", + "arm phenotype", + "thoracic cavity element", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "limb bone", + "absent bone element in the limb", + "absent forelimb endochondral element in the metacarpus region", + "segment of manus", + "protein-containing material entity", + "manual digit plus metapodial segment", + "limb endochondral element", + "absent limb bone", + "agenesis of anatomical entity", + "absent bone element in the metacarpus region", + "absent bone of free limb or fin in the limb", + "skeleton of manus", + "skeleton phenotype", + "absent forelimb endochondral element", + "manus bone", + "radius bone", + "Abnormality of the hand", + "nerve of head region", + "phenotype", + "Abnormal limb bone morphology", + "absent digit", + "arm", + "absent limb long bone in the forelimb", + "autopodial extension phenotype", + "manual digit", + "articulation phenotype", + "manual digitopodium bone", + "localised lateral structure", + "absent multicellular anatomical structure in the skeletal system", + "continuant", + "absent material anatomical entity in the forelimb", + "regulation of cellular process phenotype", + "forelimb zeugopod", + "absent organism subdivision in the multicellular organism", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "manus morphology phenotype", + "material anatomical entity phenotype", + "incomplete closing of the mesoderm-derived structure", + "forelimb long bone phenotype", + "skeletal system", + "paired limb/fin", + "metacarpus region", + "Hypoplasia of the radius", + "absent material anatomical entity in the metacarpus region", + "programmed DNA elimination by chromosome breakage phenotype", + "aplasia or hypoplasia of carpal bone", + "manus phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "cranial nerve phenotype", + "regulation of metabolic process", + "autopodial extension", + "manual digit 1", + "mesoderm-derived structure phenotype", + "decreased length of bone of appendage girdle complex", + "bone element", + "regulation of biological process", + "facial nerve phenotype", + "digit 1 phenotype", + "vessel", "lateral structure", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "aplasia or hypoplasia of skeleton", - "cardiac ventricle", - "abnormal craniocervical region", - "increased size of the anatomical entity", - "limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "cell", + "autopod bone", "mesoderm-derived structure", - "Anal atresia", - "limb endochondral element", - "Short forearm", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "bone element hypoplasia in independent continuant", - "leukocyte", - "appendicular skeletal system", - "multi-limb segment region", - "Abnormality of head or neck", - "organism", - "irregular bone", - "postcranial axial skeleton", - "digit plus metapodial segment", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "thoracic segment organ", + "absent forelimb long bone", + "organ system subdivision", + "metacarpus skeleton", + "nerve of head region phenotype", + "musculature", + "regional part of brain", + "number of anatomical enitites of type organism subdivision phenotype", + "blood vasculature", + "limb endochondral element phenotype", + "skeletal muscle organ, vertebrate", "anatomical structure", - "anatomical collection", - "All", - "decreased size of the anatomical entity in the independent continuant", - "bone element", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal anatomical entity", - "cervical vertebra endochondral element", - "decreased length of neck", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "aplastic manual digit 1", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", + "paired limb/fin phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "Abnormal hand morphology", + "Metazoa", + "taxon specific phenotype", + "absent manual digit", + "Abnormal thumb morphology", + "subdivision of trunk", + "limb segment", + "forelimb morphology phenotype", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", "independent continuant", - "abnormal leukocyte morphology", - "abnormal growth", - "Neoplasm by histology", - "endochondral element", - "abnormal neck", - "Abnormality of the neck", - "orifice", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "musculoskeletal system", - "abnormal cellular metabolic process", - "limb skeleton subdivision", - "skull", - "organ", - "abnormal cardiac septum morphology", - "occurrent", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", + "aplastic manual digit 1", + "absent bone of free limb or fin", + "articulation", + "Abnormality of facial musculature", + "anatomical entity morphology in the manus phenotype", "anatomical system", - "abnormal neck morphology", - "skeleton of limb", - "Abnormal forearm bone morphology", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "arm bone", - "increased pigmentation", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "entity", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "decreased length of anatomical entity", - "bone of pectoral complex", - "abnormal limb bone morphology", - "abnormal anatomical entity topology in independent continuant", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "thoracic segment organ", - "Abnormal cellular immune system morphology", - "skeletal element", - "zeugopod", - "U-shaped kidney", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "regulation of cellular biosynthetic process phenotype", + "limb bone morphology phenotype", + "decreased size of the forelimb endochondral element", + "Abnormal skeletal morphology", + "aplastic phalanx of manus", + "decreased size of the anatomical entity in the pectoral complex", "digit 1 or 5", - "dorsal part of neck", - "abnormal interatrial septum morphology", - "primary circulatory organ", - "Abnormal myeloid cell morphology", - "dorsum", - "cervical region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormal eyelid morphology", + "incomplete closing of the material anatomical entity", + "subdivision of skeletal system phenotype", + "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "bone of appendage girdle complex phenotype", + "negative regulation of metabolic process", + "nervous system morphology phenotype", + "manual digit 1 or 5", + "paired limb/fin segment phenotype", + "vascular system morphology phenotype", + "Abnormal digit morphology", + "negative regulation of cellular process", + "Aplasia/hypoplasia involving the skeleton", + "absent long bone", + "anatomical entity", + "phenotypic effect", + "size of anatomical entity phenotype", + "pectoral appendage skeleton", + "absent proximal mesopodial endochondral element", + "Aplasia/Hypoplasia involving the central nervous system", + "forelimb endochondral element phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "biological regulation", + "abdominal segment of trunk", "manus", - "subdivision of organism along main body axis", - "Neoplasm of the genitourinary tract", - "abnormal vertebral column", - "Abnormality of the vertebral column", - "bone of dorsum", - "bone marrow", - "Abnormal cardiac atrium morphology", - "abnormally decreased number of myeloid cell", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "vertebral column", - "telencephalon", - "abnormal opening of the anatomical entity", - "dorsal region element", - "Abnormality of skull size", + "Abnormality of limbs", + "muscle structure phenotype", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "arm bone", + "Abnormal joint morphology", "body proper", - "organ system subdivision", - "erythrocyte", - "abnormal blood cell", - "absent digit", - "nucleobase-containing compound metabolic process", - "phenotype", - "Abnormal cell morphology", - "main body axis", - "abnormal kidney morphology", - "quality", - "abnormal forelimb zeugopod morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "appendage", - "root", - "Malignant neoplasm of the central nervous system", - "abnormally decreased number of hematopoietic cell", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Microphthalmia", - "material anatomical entity", - "renal system", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", - "abnormal renal system", - "Peripheral primitive neuroectodermal neoplasm", - "abnormal anus", - "Neuroectodermal neoplasm", - "skeletal system", - "abnormal cardiac ventricle morphology", - "motile cell", - "manual digit 1 plus metapodial segment", - "abdomen", - "aplasia or hypoplasia of manual digit 1", + "absent limb endochondral element in the limb", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "multicellular organism morphology phenotype", + "absent forelimb bone in the metacarpus region", + "absent multicellular anatomical structure in the limb", + "regulation of cellular process", + "localised trunk region element", + "coronary vessel", + "digit morphology phenotype", + "aplasia or hypoplasia of skeleton", + "craniocervical region morphology phenotype", + "Abnormality of the skeletal system", + "number of anatomical enitites of type skeletal element phenotype", "system", - "circulatory system", - "bone marrow cell", - "continuant", - "neck bone", - "entire sense organ system", - "abnormal craniocervical region morphology", - "cervical vertebra", - "abnormal telencephalon morphology", - "Embryonal neoplasm", - "skeleton", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "craniocervical region", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "Abnormal thumb morphology", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "subdivision of vertebral column", - "absent manual digit", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "Abnormal finger morphology", - "abnormal digestive system morphology", - "abnormal forelimb morphology", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "Abnormal hand morphology", - "Metazoa", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "zone of organ", - "tissue", + "regulation of gene expression phenotype", + "brain morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "absent forelimb long bone in the metacarpus region", + "limb bone phenotype", "digitopodium region", "Aplasia/Hypoplasia of fingers", - "endochondral bone", - "Aplasia/Hypoplasia of the radius", - "neck", - "abnormal size of anatomical entity", - "Upper limb undergrowth", - "Abnormality of thrombocytes", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormality of the hand", - "radius bone", - "abnormal DNA metabolic process", - "forelimb zeugopod bone hypoplasia", - "skin of eyelid", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "subdivision of organism along appendicular axis", + "localised material anatomical entity", + "absent limb bone in the metacarpus region", + "absent organism subdivision", + "absent endochondral element in the metacarpus region", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "decreased length of bone of pectoral complex", + "skeleton", + "anatomical collection phenotype", + "quality", + "absent anatomical structure in the limb", + "blood vessel phenotype", + "decreased length of mesoderm-derived structure", + "negative regulation of macromolecule metabolic process", "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Abnormal neck morphology", - "negative regulation of gene expression", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "appendage girdle complex", - "subdivision of head", - "abnormal face", - "forelimb bone", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the pectoral complex", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "head", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "obsolete cellular aromatic compound metabolic process", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal limb bone", - "Abnormal nervous system morphology", - "sense organ", - "limb bone", - "Neuroblastoma", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "limb segment", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Nervous tissue neoplasm", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "Abnormality of limb bone morphology", - "manual digit 1", - "Decreased body weight", - "autopodial extension", - "regulation of metabolic process", - "regulation of cellular metabolic process", - "Abnormality of limbs", + "absent autopodial extension", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "regulation of biosynthetic process", + "bone of appendage girdle complex", + "digit 1 plus metapodial segment", + "Aplasia/hypoplasia involving bones of the extremities", + "absent mesoderm-derived structure", + "absent metacarpal bone", + "absent anatomical entity", + "process", + "Abnormality of metabolism/homeostasis", + "limb morphology phenotype", + "biological regulation phenotype", + "number of anatomical enitites of type anatomical structure phenotype", + "Abnormality of skull size", + "anatomical entity morphology in the pectoral complex phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "embryonic cardiovascular system", + "organism subdivision", + "craniocervical region musculature", + "regional part of brain phenotype", + "digit 1 or 5 phenotype", + "obsolete cell", + "anatomical entity morphology phenotype", + "decreased length of long bone", + "programmed DNA elimination", + "multi-limb segment region", + "Facial palsy", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "metacarpal bone of digit 1 morphology phenotype", + "anatomical system phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "radius bone morphology phenotype", + "absent radius endochondral element in the forelimb", + "renal system morphology phenotype", + "metacarpal bone phenotype", + "Chromosome breakage", + "trunk region element phenotype", + "Aplasia/Hypoplasia of the 1st metacarpal", + "lateral structure phenotype", + "negative regulation of gene expression phenotype", + "localised compound organ", "Abnormality of the kidney", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "blood cell", + "trunk", "Abnormality of the genitourinary system", "forebrain", - "Abnormality of the cardiovascular system", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "Renal neoplasm", - "Urinary tract neoplasm", - "abnormal anatomical entity morphology in the heart", - "Abnormal renal morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "abnormal nervous system", - "abnormal forebrain morphology", - "Neuroblastic tumor", - "multi-tissue structure", - "Aplastic anemia", - "abnormal nervous system morphology", - "Leukemia", - "abnormal cell morphology", - "abnormal anus morphology", - "Abnormality of the urinary system", + "excretory system", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "circulatory system", + "subdivision of organism along main body axis", + "renal system", "Morphological central nervous system abnormality", - "anus", - "Abnormal skull morphology", - "abnormal anatomical entity morphology in the brain", - "Primitive neuroectodermal tumor", - "visual system", + "Abnormality of the urinary system", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "upper urinary tract phenotype", + "biological_process", + "genitourinary system phenotype", + "absent multicellular anatomical structure in the metacarpus region", + "manual digitopodium region", + "upper urinary tract", + "absent bone of free limb or fin in the metacarpus region", + "regional part of nervous system", + "telencephalon morphology phenotype", + "skull phenotype", + "multi organ part structure phenotype", + "heart", + "coronary vessel morphology phenotype", + "Abnormality of the head", + "postcranial axial skeleton", + "absent radius endochondral element", + "regulation of macromolecule biosynthetic process phenotype", "Decreased head circumference", + "Abnormality of the nervous system", + "central nervous system morphology phenotype", + "Growth abnormality", + "cardiovascular system morphology phenotype", + "axial skeletal system", + "forebrain morphology phenotype", + "aplasia or hypoplasia of telencephalon", + "telencephalon phenotype", + "cellular organisms", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "manus bone phenotype", + "Abnormal morphology of the radius", + "craniocervical region", + "forelimb skeleton", + "head morphology phenotype", + "regional part of nervous system phenotype", + "ectoderm-derived structure phenotype", + "Abnormal axial skeleton morphology", + "telencephalon", + "structure with developmental contribution from neural crest", + "decreased length of limb bone", + "ectoderm-derived structure", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", "cranial skeletal system", - "abnormal head morphology", - "Pancytopenia", - "abnormal head", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", + "acropodium region", + "decreased size of the limb endochondral element", + "craniocervical region phenotype", + "brain", + "Abnormality of head or neck", + "Abnormal skull morphology", + "organ phenotype", + "absent bone of appendage girdle complex", + "skull morphology phenotype", + "Abnormal 1st metacarpal morphology", + "Abnormal brain morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "multicellular anatomical structure morphology in the heart phenotype", + "autopod endochondral element", "Abnormality of limb bone", + "homeostatic process phenotype", "central nervous system", - "skin of face", - "regional part of brain", + "absent organ in the forelimb", + "decreased length of bone element", + "limb long bone morphology phenotype", + "localised anatomical entity", + "decreased size of the multicellular anatomical structure", + "incomplete closing of the anatomical conduit", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Forearm undergrowth", + "decreased size of the anatomical entity", "forelimb long bone", - "abnormal size of skull", - "forelimb", - "Abnormal forebrain morphology", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "aplasia or hypoplasia of eyeball of camera-type eye", - "sensory system", - "anus atresia", - "Short long bone", - "abnormal skull morphology", - "abnormal immune system", - "Acute leukemia", - "camera-type eye", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "hemolymphoid system", - "nucleate cell", - "Neuroepithelial neoplasm", - "non-connected functional system", - "Abnormal immune system morphology", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Acute myeloid leukemia", - "Short digit", - "Abnormality of the immune system", - "immune system", - "disconnected anatomical group", - "abnormal cell", - "abnormal hematopoietic system", - "Neoplasm of the central nervous system", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "Ectopic kidney", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal cardiovascular system morphology", - "heart plus pericardium", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "organ part", - "abnormal incomplete closing of the anatomical entity", - "biological_process", - "cardiac atrium", - "vertebral element", - "viscus", - "circulatory organ", "Abnormal forearm morphology", - "vertebra", - "Small for gestational age", - "Abnormal heart morphology", - "abnormal cardiovascular system", - "paired limb/fin segment", - "septum", - "subdivision of skeleton", - "Abnormal cardiac septum morphology", - "aplasia or hypoplasia of radius bone", - "abnormal long bone morphology", - "abnormal heart morphology", - "abnormal incomplete closing of the interatrial septum", - "obsolete nitrogen compound metabolic process", - "abnormal cardiac atrium morphology", - "Short finger", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "cervical region of vertebral column", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "abnormally localised anatomical entity", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Abnormal anus morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "Abnormal localization of kidney", - "aplasia or hypoplasia of manual digit", - "cardiac chamber", - "face", - "abnormal orbital region", - "axial skeletal system", - "Growth abnormality", - "Pelvic kidney", - "abnormal pigmentation", - "heart", - "Abnormality of the head", - "organic substance metabolic process", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "abnormal renal system morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormality of the face", - "Abnormality of the orbital region", - "abnormal size of eyeball of camera-type eye", - "multicellular organism", - "Thrombocytopenia", - "regulation of macromolecule biosynthetic process", - "orbital region", - "abdominal segment of trunk", - "biological regulation", - "regulation of cellular biosynthetic process", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "decreased length of forelimb zeugopod bone", - "eyeball of camera-type eye", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "abnormality of anatomical entity mass", - "Short neck", - "Aplasia/Hypoplasia involving the central nervous system", - "decreased multicellular organism mass", - "Abnormal atrial septum morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormality of multicellular organism mass", - "Growth delay", + "Limb undergrowth", + "radius endochondral element", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "decreased length of skeletal element", + "decreased size of the material anatomical entity", + "decreased size of the long bone", + "forelimb zeugopod bone hypoplasia", + "decreased size of the bone of pectoral complex", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "aplasia or hypoplasia of manual digit 1 phalanx", + "decreased size of the bone of free limb or fin", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased length of anatomical structure", + "renal/urinary system phenotype", + "forelimb bone", + "anatomical entity hypoplasia", + "absent radius bone", + "axial skeleton plus cranial skeleton", + "decreased size of the limb bone", + "absent short bone", + "multi-tissue structure", + "limb long bone phenotype", + "nervous system", + "forelimb zeugopod bone", + "decreased length of multicellular anatomical structure", "kidney", - "abnormal biological_process", - "Decreased multicellular organism mass", - "abnormally decreased number of cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "myeloid cell", - "platelet", - "Abnormality of bone marrow cell morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "cardiac septum", - "anucleate cell", - "oxygen accumulating cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal myeloid cell morphology", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "cavitated compound organ", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "abnormal primary metabolic process", - "cellular component organization", - "obsolete cellular nitrogen compound metabolic process", - "postcranial axial skeletal system", - "organelle organization", - "negative regulation of biological process", - "regulation of cellular process", - "Chromosome breakage", - "abnormal chromatin organization", - "secretory cell", - "abnormal cellular process", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", + "Growth delay", + "radius bone phenotype", + "decreased length of forelimb zeugopod bone", + "forelimb bone phenotype", + "decreased length of limb endochondral element", + "Short forearm", + "delayed biological_process", + "decreased length of material anatomical entity", + "absent limb long bone", + "decreased size of the forelimb bone", + "Abnormal peripheral nervous system morphology", + "Abnormal upper limb bone morphology", + "Abnormal blood vessel morphology", + "decreased size of the arm bone", + "decreased size of the bone of appendage girdle complex", + "number of anatomical enitites of type bone element phenotype", + "Abnormal forearm bone morphology", + "absent autopod endochondral element in the metacarpus region", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "vasculature", + "bone of pectoral complex morphology phenotype", + "organ", + "decreased size of the anatomical structure", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the endochondral element", + "absent forelimb zeugopod bone", + "decreased length of forelimb endochondral element", + "metapodium region", + "Aplasia/hypoplasia involving forearm bones", + "long bone phenotype", + "forelimb zeugopod bone phenotype", + "absent arm bone in the forelimb", + "decreased length of endochondral bone", + "absent forelimb bone in the forelimb", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", + "peripheral nervous system morphology phenotype", + "Aplasia involving bones of the upper limbs", + "absent bone of appendage girdle complex in the limb", + "Abnormal cerebral morphology", + "limb segment phenotype", + "absent endochondral element in the limb", + "absent bone of pectoral complex in the limb", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "skull", + "absent material anatomical entity in the skeletal system", + "absent forelimb zeugopod bone in the forelimb", + "absent limb endochondral element in the forelimb", + "number of anatomical enitites of type organ phenotype", + "radiale", + "anatomical entity physiology phenotype", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "number of anatomical enitites of type endochondral element phenotype", + "Abnormal proximal phalanx morphology of the hand", + "absent limb bone in the forelimb", + "absent skeletal element in the limb", + "absent anatomical structure in the skeletal system", + "Patent ductus arteriosus", + "absent bone element", + "decreased size of the organ", + "decreased size of the endochondral bone", + "absent forelimb bone", + "absent manual digitopodium bone", + "absent organ", + "Absent radius", + "radiale phenotype", + "Absent forearm bone", + "Aplasia of the phalanges of the hand", + "subdivision of head", + "appendage girdle complex", + "absent mesoderm-derived structure in the forelimb", + "Abnormal appendicular skeleton morphology", + "absent bone element in the forelimb", + "absent endochondral element in the forelimb", + "absent forelimb bone in the limb", + "absent limb endochondral element", + "facial muscle phenotype", + "systemic artery morphology phenotype", + "absent organ in the limb", + "absent endochondral element", + "absent endochondral bone in the forelimb", + "skeleton of manual digitopodium", + "localised organ", + "primary circulatory organ", + "absent endochondral bone", + "autopod region phenotype", + "absent mesoderm-derived structure in the limb", + "absent radius bone in the forelimb", + "absent forelimb endochondral element in the limb", + "Short long bone", + "absent arm bone", + "manual digit 1 digitopodial skeleton", "regulation of gene expression", - "metabolic process", - "abnormal organelle organization", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal cellular component organization", - "protein-containing complex organization", - "nucleic acid metabolic process", - "abnormal limb", - "negative regulation of cellular process", - "shape kidney", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abnormal incomplete closing of the interventricular septum", - "regulation of macromolecule metabolic process", - "protein-DNA complex organization", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "material entity", - "long bone", - "negative regulation of biosynthetic process", - "abnormal metabolic process", - "digestive system", - "obsolete cell", - "decreased length of long bone", - "programmed DNA elimination", + "pectoral appendage", + "absent bone of appendage girdle complex in the forelimb", + "absent skeletal element in the forelimb", + "arm bone phenotype", + "delayed growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "growth phenotype", + "vasculature phenotype", + "decreased length of forelimb bone", + "anatomical structure morphology in the heart phenotype", + "anatomical entity morphology in the heart phenotype", + "Abnormal vascular morphology", + "absent digitopodium bone in the metacarpus region", + "forelimb", + "Abnormal forebrain morphology", + "incomplete closing of the blood vessel", + "absent bone of free limb or fin in the forelimb", + "artery", + "localised kidney", + "absent anatomical structure", + "conceptus", + "thoracic segment blood vessel", ], }, ], diff --git a/backend/tests/fixtures/entity.py b/backend/tests/fixtures/entity.py index 3f5ba9022..ecf15f7c5 100644 --- a/backend/tests/fixtures/entity.py +++ b/backend/tests/fixtures/entity.py @@ -15,6 +15,7 @@ def entity(): "GARD:7922", "ICD10CM:G71.0", "ICD9:359.1", + "MEDGEN:44527", "MESH:D009136", "MedDRA:10028356", "NANDO:1200486", @@ -29,13 +30,13 @@ def entity(): "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": "http://purl.obolibrary.org/obo/MONDO_0020121", "iri": None, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": 0, } diff --git a/backend/tests/fixtures/entity_response.py b/backend/tests/fixtures/entity_response.py index 0ede856f7..617ec4e8f 100644 --- a/backend/tests/fixtures/entity_response.py +++ b/backend/tests/fixtures/entity_response.py @@ -7,11 +7,14 @@ def entity_response(): "id": "MONDO:0020121", "category": "biolink:Disease", "name": "muscular dystrophy", + "description": "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.", + "provided_by": "phenio_nodes", "xref": [ "DOID:9884", "GARD:7922", "ICD10CM:G71.0", "ICD9:359.1", + "MEDGEN:44527", "MESH:D009136", "MedDRA:10028356", "NANDO:1200486", @@ -22,8 +25,6 @@ def entity_response(): "UMLS:C0026850", "icd11.foundation:1464662404", ], - "provided_by": "phenio_nodes", - "description": "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.", "namespace": "MONDO", "has_phenotype_count": 0, } diff --git a/backend/tests/fixtures/histopheno.py b/backend/tests/fixtures/histopheno.py index cf169e075..adb55d9be 100644 --- a/backend/tests/fixtures/histopheno.py +++ b/backend/tests/fixtures/histopheno.py @@ -6,25 +6,25 @@ def histopheno(): return { "id": "MONDO:0020121", "items": [ - {"label": "musculature", "count": 1748, "id": "UPHENO:0002816"}, - {"label": "nervous_system", "count": 1097, "id": "UPHENO:0004523"}, - {"label": "head_neck", "count": 592, "id": "UPHENO:0002764"}, - {"label": "skeletal_system", "count": 500, "id": "UPHENO:0002964"}, - {"label": "eye", "count": 292, "id": "UPHENO:0003020"}, - {"label": "metabolism_homeostasis", "count": 225, "id": "HP:0001939"}, - {"label": "blood", "count": 182, "id": "UPHENO:0004459"}, - {"label": "cardiovascular_system", "count": 181, "id": "UPHENO:0080362"}, - {"label": "connective_tissue", "count": 172, "id": "UPHENO:0002712"}, + {"label": "musculature", "count": 2068, "id": "UPHENO:0002816"}, + {"label": "nervous_system", "count": 1126, "id": "UPHENO:0004523"}, + {"label": "head_neck", "count": 597, "id": "UPHENO:0002764"}, + {"label": "skeletal_system", "count": 509, "id": "UPHENO:0002964"}, + {"label": "eye", "count": 297, "id": "UPHENO:0003020"}, + {"label": "metabolism_homeostasis", "count": 228, "id": "HP:0001939"}, + {"label": "blood", "count": 185, "id": "UPHENO:0004459"}, + {"label": "connective_tissue", "count": 175, "id": "UPHENO:0002712"}, {"label": "respiratory", "count": 158, "id": "UPHENO:0004536"}, - {"label": "neoplasm", "count": 155, "id": "HP:0002664"}, - {"label": "digestive_system", "count": 149, "id": "UPHENO:0002833"}, - {"label": "integument", "count": 47, "id": "UPHENO:0002635"}, - {"label": "genitourinary_system", "count": 44, "id": "UPHENO:0002642"}, + {"label": "digestive_system", "count": 154, "id": "UPHENO:0002833"}, + {"label": "integument", "count": 49, "id": "UPHENO:0002635"}, + {"label": "genitourinary_system", "count": 49, "id": "UPHENO:0002642"}, {"label": "growth", "count": 32, "id": "UPHENO:0049874"}, + {"label": "immune_system", "count": 28, "id": "UPHENO:0002948"}, {"label": "ear", "count": 28, "id": "HP:0000598"}, {"label": "endocrine", "count": 25, "id": "UPHENO:0003116"}, - {"label": "immune_system", "count": 23, "id": "UPHENO:0002948"}, {"label": "prenatal_or_birth", "count": 22, "id": "UPHENO:0075949"}, + {"label": "neoplasm", "count": 7, "id": "HP:0002664"}, {"label": "breast", "count": 1, "id": "UPHENO:0003013"}, + {"label": "cardiovascular_system", "count": 0, "id": "UPHENO:0080362"}, ], } diff --git a/backend/tests/fixtures/histopheno_response.py b/backend/tests/fixtures/histopheno_response.py index 8e82395ad..30a7cbe26 100644 --- a/backend/tests/fixtures/histopheno_response.py +++ b/backend/tests/fixtures/histopheno_response.py @@ -40,27 +40,27 @@ def histopheno_response(): "facet": "true", }, }, - "response": {"num_found": 4501, "start": 0, "docs": []}, + "response": {"num_found": 4599, "start": 0, "docs": []}, "facet_counts": { "facet_fields": {}, "facet_queries": { - 'object_closure:"UPHENO:0002964"': 500, - 'object_closure:"UPHENO:0004523"': 1097, - 'object_closure:"UPHENO:0002764"': 592, - 'object_closure:"UPHENO:0002635"': 47, - 'object_closure:"UPHENO:0003020"': 292, - 'object_closure:"UPHENO:0080362"': 181, - 'object_closure:"HP:0001939"': 225, - 'object_closure:"UPHENO:0002642"': 44, - 'object_closure:"UPHENO:0002833"': 149, - 'object_closure:"HP:0002664"': 155, - 'object_closure:"UPHENO:0004459"': 182, - 'object_closure:"UPHENO:0002948"': 23, + 'object_closure:"UPHENO:0002964"': 509, + 'object_closure:"UPHENO:0004523"': 1126, + 'object_closure:"UPHENO:0002764"': 597, + 'object_closure:"UPHENO:0002635"': 49, + 'object_closure:"UPHENO:0003020"': 297, + 'object_closure:"UPHENO:0080362"': 0, + 'object_closure:"HP:0001939"': 228, + 'object_closure:"UPHENO:0002642"': 49, + 'object_closure:"UPHENO:0002833"': 154, + 'object_closure:"HP:0002664"': 7, + 'object_closure:"UPHENO:0004459"': 185, + 'object_closure:"UPHENO:0002948"': 28, 'object_closure:"UPHENO:0003116"': 25, - 'object_closure:"UPHENO:0002816"': 1748, + 'object_closure:"UPHENO:0002816"': 2068, 'object_closure:"UPHENO:0004536"': 158, 'object_closure:"HP:0000598"': 28, - 'object_closure:"UPHENO:0002712"': 172, + 'object_closure:"UPHENO:0002712"': 175, 'object_closure:"UPHENO:0075949"': 22, 'object_closure:"UPHENO:0049874"': 32, 'object_closure:"UPHENO:0003013"': 1, diff --git a/backend/tests/fixtures/mapping_response.py b/backend/tests/fixtures/mapping_response.py index ad3dcdcc6..2862d357d 100644 --- a/backend/tests/fixtures/mapping_response.py +++ b/backend/tests/fixtures/mapping_response.py @@ -19,7 +19,7 @@ def mapping_response(): }, }, "response": { - "num_found": 8, + "num_found": 9, "start": 0, "docs": [ { @@ -29,7 +29,7 @@ def mapping_response(): "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "3eda4910-e721-4814-b2cd-0739f2eee579", + "id": "4f2e79ec-aeeb-4040-b382-ef6269bf2e65", }, { "subject_id": "MONDO:0020121", @@ -38,7 +38,7 @@ def mapping_response(): "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "fd45bbd0-9de7-4d93-b491-3b582dfb003c", + "id": "63c3a2fa-4183-46ec-a931-84029dccd9c0", }, { "subject_id": "MONDO:0020121", @@ -46,7 +46,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "MEDGEN:44527", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "abafcd0b-fb7f-404a-8af3-98fba60c72bd", + "id": "f6d14347-cb93-467d-9748-2b72e07cfd53", }, { "subject_id": "MONDO:0020121", @@ -55,7 +55,7 @@ def mapping_response(): "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "7bd011ab-4a21-451d-9298-9f37ed755977", + "id": "3d4a3827-d4fc-42e5-afed-7e33a6cfa8ac", }, { "subject_id": "MONDO:0020121", @@ -64,7 +64,7 @@ def mapping_response(): "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "8fde6a2a-f907-4f74-8b7c-6fcd6103ca19", + "id": "9e915435-7914-4115-a06a-65f0052c087b", }, { "subject_id": "MONDO:0020121", @@ -72,7 +72,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "SCTID:73297009", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "167879bf-ba1b-445c-afe7-e2db86cbe795", + "id": "0dd46d38-566d-411d-9969-f72477c4979d", }, { "subject_id": "MONDO:0020121", @@ -80,7 +80,15 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "UMLS:C0026850", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "a9560c9f-0075-4117-895c-af85ef93ea46", + "id": "a3dfb55d-83e8-4c81-a08d-ca9a856adf3a", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "icd11.foundation:1464662404", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "633a180e-cd8f-46e9-9501-f86b04efba22", }, { "subject_id": "MONDO:0020121", @@ -88,7 +96,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "MESH:D009136", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e9965a94-a5fb-4f32-b803-dc757b045b5d", + "id": "3a648314-ad03-4942-a741-7c181f1e7e5e", }, ], }, diff --git a/backend/tests/fixtures/mappings.py b/backend/tests/fixtures/mappings.py index 68f0c00d8..12c89a6ae 100644 --- a/backend/tests/fixtures/mappings.py +++ b/backend/tests/fixtures/mappings.py @@ -6,7 +6,7 @@ def mappings(): return { "limit": 20, "offset": 0, - "total": 8, + "total": 9, "items": [ { "subject_id": "MONDO:0020121", @@ -15,7 +15,7 @@ def mappings(): "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "3eda4910-e721-4814-b2cd-0739f2eee579", + "id": "4f2e79ec-aeeb-4040-b382-ef6269bf2e65", }, { "subject_id": "MONDO:0020121", @@ -24,7 +24,7 @@ def mappings(): "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "fd45bbd0-9de7-4d93-b491-3b582dfb003c", + "id": "63c3a2fa-4183-46ec-a931-84029dccd9c0", }, { "subject_id": "MONDO:0020121", @@ -33,7 +33,7 @@ def mappings(): "object_id": "MEDGEN:44527", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "abafcd0b-fb7f-404a-8af3-98fba60c72bd", + "id": "f6d14347-cb93-467d-9748-2b72e07cfd53", }, { "subject_id": "MONDO:0020121", @@ -42,7 +42,7 @@ def mappings(): "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "7bd011ab-4a21-451d-9298-9f37ed755977", + "id": "3d4a3827-d4fc-42e5-afed-7e33a6cfa8ac", }, { "subject_id": "MONDO:0020121", @@ -51,7 +51,7 @@ def mappings(): "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "8fde6a2a-f907-4f74-8b7c-6fcd6103ca19", + "id": "9e915435-7914-4115-a06a-65f0052c087b", }, { "subject_id": "MONDO:0020121", @@ -60,7 +60,7 @@ def mappings(): "object_id": "SCTID:73297009", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "167879bf-ba1b-445c-afe7-e2db86cbe795", + "id": "0dd46d38-566d-411d-9969-f72477c4979d", }, { "subject_id": "MONDO:0020121", @@ -69,7 +69,16 @@ def mappings(): "object_id": "UMLS:C0026850", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "a9560c9f-0075-4117-895c-af85ef93ea46", + "id": "a3dfb55d-83e8-4c81-a08d-ca9a856adf3a", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "icd11.foundation:1464662404", + "object_label": None, + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "633a180e-cd8f-46e9-9501-f86b04efba22", }, { "subject_id": "MONDO:0020121", @@ -78,7 +87,7 @@ def mappings(): "object_id": "MESH:D009136", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e9965a94-a5fb-4f32-b803-dc757b045b5d", + "id": "3a648314-ad03-4942-a741-7c181f1e7e5e", }, ], } diff --git a/backend/tests/fixtures/node.py b/backend/tests/fixtures/node.py index 967409280..bfcd8f87e 100644 --- a/backend/tests/fixtures/node.py +++ b/backend/tests/fixtures/node.py @@ -15,6 +15,7 @@ def node(): "GARD:7922", "ICD10CM:G71.0", "ICD9:359.1", + "MEDGEN:44527", "MESH:D009136", "MedDRA:10028356", "NANDO:1200486", @@ -29,18 +30,18 @@ def node(): "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": "http://purl.obolibrary.org/obo/MONDO_0020121", "iri": None, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": 0, "inheritance": None, "causal_gene": [], - "causes_disease": [], + "causes_disease": None, "mappings": [ {"id": "DOID:9884", "url": "http://purl.obolibrary.org/obo/DOID_9884"}, {"id": "ICD10CM:G71.0", "url": "https://icd.codes/icd10cm/G71.0"}, @@ -49,6 +50,7 @@ def node(): {"id": "Orphanet:98473", "url": "https://www.orpha.net/en/disease/detail/98473"}, {"id": "SCTID:73297009", "url": "http://identifiers.org/snomedct/73297009"}, {"id": "UMLS:C0026850", "url": "http://identifiers.org/umls/C0026850"}, + {"id": "icd11.foundation:1464662404", "url": None}, {"id": "MESH:D009136", "url": "http://identifiers.org/mesh/D009136"}, ], "external_links": [ @@ -56,6 +58,7 @@ def node(): {"id": "GARD:7922", "url": "https://rarediseases.info.nih.gov/diseases/7922/index"}, {"id": "ICD10CM:G71.0", "url": "https://icd.codes/icd10cm/G71.0"}, {"id": "ICD9:359.1", "url": None}, + {"id": "MEDGEN:44527", "url": "http://identifiers.org/medgen/44527"}, {"id": "MESH:D009136", "url": "http://identifiers.org/mesh/D009136"}, {"id": "MedDRA:10028356", "url": None}, {"id": "NANDO:1200486", "url": "http://identifiers.org/NANDO/1200486"}, @@ -73,236 +76,236 @@ def node(): "association_counts": [ { "label": "Phenotype to Disease", - "count": 4012, + "count": 4115, "category": "biolink:DiseaseToPhenotypicFeatureAssociation", }, {"label": "Causal Gene", "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation"}, - {"label": "Correlated Gene", "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, + {"label": "Correlated Gene", "count": 151, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, {"label": "Variant to Disease", "count": 1, "category": "biolink:VariantToDiseaseAssociation"}, {"label": "Disease Model", "count": 237, "category": "biolink:GenotypeToDiseaseAssociation"}, ], "node_hierarchy": { "super_classes": [ { - "id": "MONDO:0100546", + "id": "MONDO:0005336", "category": "biolink:Disease", - "name": "hereditary neuromuscular disease", + "name": "myopathy", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { - "id": "MONDO:0700223", + "id": "MONDO:0100546", "category": "biolink:Disease", - "name": "hereditary skeletal muscle disorder", + "name": "hereditary neuromuscular disease", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { - "id": "MONDO:0005336", + "id": "MONDO:0700223", "category": "biolink:Disease", - "name": "myopathy", + "name": "hereditary skeletal muscle disorder", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, ], "sub_classes": [ { - "id": "MONDO:0010675", + "id": "MONDO:0008028", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "muscular dystrophy, Barnes type", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { - "id": "MONDO:0010676", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "Becker muscular dystrophy", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { - "id": "MONDO:0010677", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "muscular dystrophy, cardiac type", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { - "id": "MONDO:0010678", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { - "id": "MONDO:0010679", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "muscular dystrophy, Mabry type", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { - "id": "MONDO:0010311", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { - "id": "MONDO:0008028", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "Duchenne muscular dystrophy", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { @@ -312,63 +315,63 @@ def node(): "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { - "id": "MONDO:0018949", + "id": "MONDO:0019950", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "congenital muscular dystrophy", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { - "id": "MONDO:0019950", + "id": "MONDO:0018949", "category": "biolink:Disease", - "name": "congenital muscular dystrophy", + "name": "distal myopathy", "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { @@ -378,19 +381,19 @@ def node(): "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, { @@ -400,19 +403,19 @@ def node(): "full_name": None, "deprecated": None, "description": None, - "xref": [], + "xref": None, "provided_by": None, "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [], + "synonym": None, "uri": None, "iri": None, "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": None, }, ], diff --git a/backend/tests/fixtures/object_formatted.py b/backend/tests/fixtures/object_formatted.py index f3c87e5a0..1958b21b1 100644 --- a/backend/tests/fixtures/object_formatted.py +++ b/backend/tests/fixtures/object_formatted.py @@ -16,6 +16,7 @@ def node_json(): "GARD:7922", "ICD10CM:G71.0", "ICD9:359.1", + "MEDGEN:44527", "MESH:D009136", "MedDRA:10028356", "NANDO:1200486", @@ -30,18 +31,18 @@ def node_json(): "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": "http://purl.obolibrary.org/obo/MONDO_0020121", "iri": null, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": 0, "inheritance": null, "causal_gene": [], - "causes_disease": [], + "causes_disease": null, "mappings": [ { "id": "DOID:9884", @@ -71,6 +72,10 @@ def node_json(): "id": "UMLS:C0026850", "url": "http://identifiers.org/umls/C0026850" }, + { + "id": "icd11.foundation:1464662404", + "url": null + }, { "id": "MESH:D009136", "url": "http://identifiers.org/mesh/D009136" @@ -93,6 +98,10 @@ def node_json(): "id": "ICD9:359.1", "url": null }, + { + "id": "MEDGEN:44527", + "url": "http://identifiers.org/medgen/44527" + }, { "id": "MESH:D009136", "url": "http://identifiers.org/mesh/D009136" @@ -137,7 +146,7 @@ def node_json(): "association_counts": [ { "label": "Phenotype to Disease", - "count": 4012, + "count": 4115, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { @@ -147,7 +156,7 @@ def node_json(): }, { "label": "Correlated Gene", - "count": 146, + "count": 151, "category": "biolink:CorrelatedGeneToDiseaseAssociation" }, { @@ -164,225 +173,225 @@ def node_json(): "node_hierarchy": { "super_classes": [ { - "id": "MONDO:0100546", + "id": "MONDO:0005336", "category": "biolink:Disease", - "name": "hereditary neuromuscular disease", + "name": "myopathy", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0700223", + "id": "MONDO:0100546", "category": "biolink:Disease", - "name": "hereditary skeletal muscle disorder", + "name": "hereditary neuromuscular disease", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0005336", + "id": "MONDO:0700223", "category": "biolink:Disease", - "name": "myopathy", + "name": "hereditary skeletal muscle disorder", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null } ], "sub_classes": [ { - "id": "MONDO:0010675", + "id": "MONDO:0008028", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "muscular dystrophy, Barnes type", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0010676", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "Becker muscular dystrophy", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0010677", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "muscular dystrophy, cardiac type", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0010678", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0010679", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "muscular dystrophy, Mabry type", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0010311", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0008028", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "Duchenne muscular dystrophy", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { @@ -392,63 +401,63 @@ def node_json(): "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0018949", + "id": "MONDO:0019950", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "congenital muscular dystrophy", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0019950", + "id": "MONDO:0018949", "category": "biolink:Disease", - "name": "congenital muscular dystrophy", + "name": "distal myopathy", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { @@ -458,19 +467,19 @@ def node_json(): "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { @@ -480,19 +489,19 @@ def node_json(): "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null } ] @@ -505,7 +514,7 @@ def node_json(): def node_tsv(): return """ id category name full_name deprecated description xref provided_by in_taxon in_taxon_label symbol synonym uri iri namespace has_phenotype has_phenotype_label has_phenotype_closure has_phenotype_closure_label has_phenotype_count inheritance causal_gene causes_disease mappings external_links provided_by_link association_counts node_hierarchy -MONDO:0020121 biolink:Disease muscular dystrophy None None Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. ['DOID:9884', 'GARD:7922', 'ICD10CM:G71.0', 'ICD9:359.1', 'MESH:D009136', 'MedDRA:10028356', 'NANDO:1200486', 'NANDO:2100233', 'NCIT:C84910', 'Orphanet:98473', 'SCTID:73297009', 'UMLS:C0026850', 'icd11.foundation:1464662404'] phenio_nodes None None None [] http://purl.obolibrary.org/obo/MONDO_0020121 None MONDO [] [] [] [] 0 None [] [] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'GARD:7922', 'url': 'https://rarediseases.info.nih.gov/diseases/7922/index'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'ICD9:359.1', 'url': None}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'MedDRA:10028356', 'url': None}, {'id': 'NANDO:1200486', 'url': 'http://identifiers.org/NANDO/1200486'}, {'id': 'NANDO:2100233', 'url': 'http://identifiers.org/NANDO/2100233'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}] {'id': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Phenotype to Disease', 'count': 4012, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Gene', 'count': 126, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Gene', 'count': 146, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}, {'label': 'Variant to Disease', 'count': 1, 'category': 'biolink:VariantToDiseaseAssociation'}, {'label': 'Disease Model', 'count': 237, 'category': 'biolink:GenotypeToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0100546', 'category': 'biolink:Disease', 'name': 'hereditary neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}], 'sub_classes': [{'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0008028', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Barnes type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}]} +MONDO:0020121 biolink:Disease muscular dystrophy None None Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. ['DOID:9884', 'GARD:7922', 'ICD10CM:G71.0', 'ICD9:359.1', 'MEDGEN:44527', 'MESH:D009136', 'MedDRA:10028356', 'NANDO:1200486', 'NANDO:2100233', 'NCIT:C84910', 'Orphanet:98473', 'SCTID:73297009', 'UMLS:C0026850', 'icd11.foundation:1464662404'] phenio_nodes None None None None http://purl.obolibrary.org/obo/MONDO_0020121 None MONDO None None None None 0 None [] None [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'GARD:7922', 'url': 'https://rarediseases.info.nih.gov/diseases/7922/index'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'ICD9:359.1', 'url': None}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'MedDRA:10028356', 'url': None}, {'id': 'NANDO:1200486', 'url': 'http://identifiers.org/NANDO/1200486'}, {'id': 'NANDO:2100233', 'url': 'http://identifiers.org/NANDO/2100233'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}] {'id': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Phenotype to Disease', 'count': 4115, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Gene', 'count': 126, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Gene', 'count': 151, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}, {'label': 'Variant to Disease', 'count': 1, 'category': 'biolink:VariantToDiseaseAssociation'}, {'label': 'Disease Model', 'count': 237, 'category': 'biolink:GenotypeToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0100546', 'category': 'biolink:Disease', 'name': 'hereditary neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}], 'sub_classes': [{'id': 'MONDO:0008028', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Barnes type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}]} """ @@ -514,13 +523,13 @@ def node_yaml(): return """ association_counts: - category: biolink:DiseaseToPhenotypicFeatureAssociation - count: 4012 + count: 4115 label: Phenotype to Disease - category: biolink:CausalGeneToDiseaseAssociation count: 126 label: Causal Gene - category: biolink:CorrelatedGeneToDiseaseAssociation - count: 146 + count: 151 label: Correlated Gene - category: biolink:VariantToDiseaseAssociation count: 1 @@ -530,7 +539,7 @@ def node_yaml(): label: Disease Model category: biolink:Disease causal_gene: [] -causes_disease: [] +causes_disease: null deprecated: null description: Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that @@ -554,6 +563,8 @@ def node_yaml(): url: https://icd.codes/icd10cm/G71.0 - id: ICD9:359.1 url: null +- id: MEDGEN:44527 + url: http://identifiers.org/medgen/44527 - id: MESH:D009136 url: http://identifiers.org/mesh/D009136 - id: MedDRA:10028356 @@ -573,11 +584,11 @@ def node_yaml(): - id: icd11.foundation:1464662404 url: null full_name: null -has_phenotype: [] -has_phenotype_closure: [] -has_phenotype_closure_label: [] +has_phenotype: null +has_phenotype_closure: null +has_phenotype_closure_label: null has_phenotype_count: 0 -has_phenotype_label: [] +has_phenotype_label: null id: MONDO:0020121 in_taxon: null in_taxon_label: null @@ -598,6 +609,8 @@ def node_yaml(): url: http://identifiers.org/snomedct/73297009 - id: UMLS:C0026850 url: http://identifiers.org/umls/C0026850 +- id: icd11.foundation:1464662404 + url: null - id: MESH:D009136 url: http://identifiers.org/mesh/D009136 name: muscular dystrophy @@ -608,151 +621,151 @@ def node_yaml(): deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0010675 + has_phenotype_label: null + id: MONDO:0008028 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, cardiac type + name: muscular dystrophy, Barnes type namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0010676 + has_phenotype_label: null + id: MONDO:0010311 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, Hemizygous lethal type + name: Becker muscular dystrophy namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0010677 + has_phenotype_label: null + id: MONDO:0010675 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, Mabry type + name: muscular dystrophy, cardiac type namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0010678 + has_phenotype_label: null + id: MONDO:0010676 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, progressive Pectorodorsal + name: muscular dystrophy, Hemizygous lethal type namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0010679 + has_phenotype_label: null + id: MONDO:0010677 in_taxon: null in_taxon_label: null iri: null - name: Duchenne muscular dystrophy + name: muscular dystrophy, Mabry type namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0010311 + has_phenotype_label: null + id: MONDO:0010678 in_taxon: null in_taxon_label: null iri: null - name: Becker muscular dystrophy + name: muscular dystrophy, progressive Pectorodorsal namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0008028 + has_phenotype_label: null + id: MONDO:0010679 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, Barnes type + name: Duchenne muscular dystrophy namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] + has_phenotype_label: null id: MONDO:0016106 in_taxon: null in_taxon_label: null @@ -761,58 +774,58 @@ def node_yaml(): namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0018949 + has_phenotype_label: null + id: MONDO:0019950 in_taxon: null in_taxon_label: null iri: null - name: distal myopathy + name: congenital muscular dystrophy namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0019950 + has_phenotype_label: null + id: MONDO:0018949 in_taxon: null in_taxon_label: null iri: null - name: congenital muscular dystrophy + name: distal myopathy namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] + has_phenotype_label: null id: MONDO:0023204 in_taxon: null in_taxon_label: null @@ -821,18 +834,18 @@ def node_yaml(): namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] + has_phenotype_label: null id: MONDO:0100228 in_taxon: null in_taxon_label: null @@ -841,82 +854,83 @@ def node_yaml(): namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null super_classes: - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0100546 + has_phenotype_label: null + id: MONDO:0005336 in_taxon: null in_taxon_label: null iri: null - name: hereditary neuromuscular disease + name: myopathy namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0700223 + has_phenotype_label: null + id: MONDO:0100546 in_taxon: null in_taxon_label: null iri: null - name: hereditary skeletal muscle disorder + name: hereditary neuromuscular disease namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null - category: biolink:Disease deprecated: null description: null full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] + has_phenotype: null + has_phenotype_closure: null + has_phenotype_closure_label: null has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0005336 + has_phenotype_label: null + id: MONDO:0700223 in_taxon: null in_taxon_label: null iri: null - name: myopathy + name: hereditary skeletal muscle disorder namespace: null provided_by: null symbol: null - synonym: [] + synonym: null uri: null - xref: [] + xref: null provided_by: phenio_nodes provided_by_link: id: phenio url: https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/# symbol: null -synonym: [] +synonym: null uri: http://purl.obolibrary.org/obo/MONDO_0020121 xref: - DOID:9884 - GARD:7922 - ICD10CM:G71.0 - ICD9:359.1 +- MEDGEN:44527 - MESH:D009136 - MedDRA:10028356 - NANDO:1200486 diff --git a/backend/tests/fixtures/object_headers.py b/backend/tests/fixtures/object_headers.py index 9a24d73ea..47f437478 100644 --- a/backend/tests/fixtures/object_headers.py +++ b/backend/tests/fixtures/object_headers.py @@ -79,6 +79,12 @@ def association_headers(): "stage_qualifier_category", "stage_qualifier_closure", "stage_qualifier_closure_label", + "disease_context_qualifier", + "disease_context_qualifier_label", + "disease_context_qualifier_namespace", + "disease_context_qualifier_category", + "disease_context_qualifier_closure", + "disease_context_qualifier_closure_label", ] diff --git a/backend/tests/fixtures/search.py b/backend/tests/fixtures/search.py index f5634ddfb..b7834133c 100644 --- a/backend/tests/fixtures/search.py +++ b/backend/tests/fixtures/search.py @@ -6,7 +6,7 @@ def search(): return { "limit": 20, "offset": 0, - "total": 118, + "total": 122, "items": [ { "id": "MONDO:0019391", @@ -19,6 +19,7 @@ def search(): "DOID:13636", "GARD:6425", "ICD9:284.09", + "MEDGEN:41967", "MESH:D005199", "MedDRA:10055206", "NANDO:1200303", @@ -49,43 +50,34 @@ def search(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0010469", - "HP:0000377", + "HP:0000047", "HP:0002575", "HP:0000483", "HP:0000238", "HP:0001249", + "HP:0001000", "HP:0100587", "HP:0100026", "HP:0040071", - "HP:0012639", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0002245", - "HP:0002023", - "HP:0001824", - "HP:0001646", "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000453", - "HP:0000047", - "HP:0007874", - "HP:0002650", "HP:0000252", - "HP:0001882", - "HP:0001510", - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0002863", "HP:0100867", "HP:0100760", "HP:0100542", + "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", @@ -99,17 +91,23 @@ def search(): "HP:0002827", "HP:0002823", "HP:0002251", + "HP:0002245", + "HP:0002023", "HP:0002007", + "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", + "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", + "HP:0001510", "HP:0001347", "HP:0001199", "HP:0000813", @@ -121,6 +119,7 @@ def search(): "HP:0000492", "HP:0000486", "HP:0000478", + "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -139,7 +138,9 @@ def search(): "HP:0000010", "HP:0012745", "HP:0012210", + "HP:0007874", "HP:0002664", + "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -150,50 +151,41 @@ def search(): "HP:0003220", "HP:0002817", "HP:0001903", + "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", "HP:0001053", - "HP:0001000", ], "has_phenotype_label": [ - "Absent testis", - "Abnormal pinna morphology", + "Hypospadias", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", "Intellectual disability", + "Abnormality of skin pigmentation", "Abnormal preputium morphology", "Arteriovenous malformation", "Abnormal morphology of ulna", - "Abnormal nervous system morphology", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Meckel diverticulum", - "Anal atresia", - "Weight loss", - "Abnormal aortic valve morphology", "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", "Microcephaly", - "Leukopenia", - "Growth delay", - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", - "Oligohydramnios", + "Myelodysplasia", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", + "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", @@ -205,19 +197,25 @@ def search(): "Clinodactyly of the 5th finger", "Hypoplasia of the ulna", "Hip dislocation", - "Abnormality of femur morphology", + "Abnormal femur morphology", "Aganglionic megacolon", + "Meckel diverticulum", + "Anal atresia", "Frontal bossing", + "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", + "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", + "Growth delay", "Hyperreflexia", "Triphalangeal thumb", "Bicornuate uterus", @@ -229,6 +227,7 @@ def search(): "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", + "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -247,7 +246,9 @@ def search(): "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", + "Almond-shaped palpebral fissure", "Neoplasm", + "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -258,3170 +259,3806 @@ def search(): "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", + "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", "Hypopigmented skin patches", - "Abnormality of skin pigmentation", ], "has_phenotype_closure": [ "HP:0001010", - "UPHENO:0084987", - "UPHENO:0085070", "HP:0001873", - "UPHENO:0086173", - "CL:0000458", - "UPHENO:0085189", - "UPHENO:0086049", - "CL:0000233", + "UPHENO:0080010", "CL:0000457", + "UPHENO:0077373", + "CL:0000233", + "CL:0000458", "UPHENO:0085344", "HP:0011875", - "HP:0001939", + "UPHENO:0086173", + "HP:0011893", + "CL:0000738", + "UPHENO:0088166", + "UPHENO:0035160", + "UPHENO:0088319", + "UPHENO:0076675", + "UBERON:0000179", + "CL:0000255", + "CL:0000219", + "UBERON:0000178", + "UPHENO:0077348", + "UPHENO:0085410", + "UPHENO:0049904", "GO:0008152", "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0048871", - "UPHENO:0088162", - "UPHENO:0088170", - "CL:0000329", "HP:0010972", - "HP:0020047", - "CL:0000764", - "HP:0005522", - "HP:0001877", - "HP:0025461", - "UPHENO:0084928", - "GO:0030218", + "GO:0030099", + "GO:0030097", + "CL:0000988", + "GO:0048872", + "GO:0042592", "GO:0002376", "GO:0009987", - "GO:0042592", - "GO:0048869", + "HP:0001877", "CL:0000232", - "GO:0048872", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", - "HP:0002818", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "UPHENO:0088170", + "CL:0000764", + "CL:0001035", + "GO:0030218", + "UPHENO:0088162", + "HP:0025461", "UBERON:0015001", "UPHENO:0080187", - "HP:0012745", + "HP:0002650", + "HP:0200005", + "UPHENO:0041462", + "UPHENO:0069119", + "UPHENO:0046755", "UPHENO:0075198", + "UPHENO:0069562", "HP:0000010", "UPHENO:0002263", + "UPHENO:0002948", + "UPHENO:0053561", + "CL:0000329", + "UPHENO:0053632", + "UPHENO:0002940", + "UPHENO:0053647", "UPHENO:0053644", + "UPHENO:0053572", "HP:0000028", + "UPHENO:0053559", + "UBERON:0000056", + "UPHENO:0002636", "UBERON:0036295", + "HP:0000072", "UBERON:0006555", - "UPHENO:0002806", + "UPHENO:0003101", "HP:0025633", - "UBERON:0000056", - "UPHENO:0086132", + "UPHENO:0002859", + "UPHENO:0002426", + "UPHENO:0002377", + "UPHENO:0002427", "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", - "HP:0000083", + "UPHENO:0002422", "HP:0000135", + "UPHENO:0003056", + "UPHENO:0002381", + "UPHENO:0066972", + "UPHENO:0066945", + "UPHENO:0033589", + "UPHENO:0002806", + "UPHENO:0033612", "HP:5201015", - "UPHENO:0034110", - "UPHENO:0063513", + "UPHENO:0077399", + "UPHENO:0001392", + "HP:0000218", + "UPHENO:0063518", + "UPHENO:0063524", "UPHENO:0081423", + "UPHENO:0063529", + "UPHENO:0063519", "HP:0000268", - "UPHENO:0001208", "UPHENO:0072402", - "UBERON:0001084", + "UPHENO:0072332", "UPHENO:0087058", - "UBERON:0013766", - "UPHENO:0087928", "UBERON:1000021", + "UPHENO:0087928", + "UPHENO:0072266", + "UBERON:0013766", + "UPHENO:0072293", + "UBERON:0001084", "UPHENO:0084734", "HP:0001999", "HP:0000324", - "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0076704", + "UPHENO:0041151", "UPHENO:0041083", - "UPHENO:0081786", - "UBERON:0004768", - "HP:0004322", - "HP:0030791", - "HP:0000277", - "UPHENO:0083646", - "UPHENO:0081314", - "UPHENO:0084457", + "HP:0000347", "HP:0000286", "HP:0009118", - "UPHENO:0088116", + "UPHENO:0081314", "CL:0000081", "UBERON:0012360", + "UPHENO:0002732", + "UBERON:0001710", + "UPHENO:0076780", + "UPHENO:0002815", + "HP:0011873", + "UPHENO:0081788", + "UPHENO:0088116", + "UPHENO:0002772", + "UPHENO:0081141", + "HP:0012745", + "UPHENO:0002818", "UPHENO:0080087", - "UPHENO:0069249", "UBERON:0001708", - "UBERON:0011156", "UBERON:0003278", "UBERON:0001684", - "UPHENO:0081141", + "UPHENO:0002761", + "HP:0000277", + "UBERON:0004768", + "UPHENO:0081786", + "UPHENO:0002942", "HP:0009116", - "HP:0000347", - "UBERON:0001710", - "HP:0009122", - "HP:0011873", - "UPHENO:0081788", - "UPHENO:0005518", "HP:0000365", - "GO:0050954", "UPHENO:0052970", - "HP:0000549", + "UPHENO:0005513", + "UPHENO:0005518", + "UPHENO:0087894", + "UPHENO:0063621", + "HP:0000453", + "HP:0000415", + "HP:0000366", + "UPHENO:0002906", + "UPHENO:0063595", + "UPHENO:0033635", + "UBERON:0004771", + "UBERON:0000003", "HP:0000486", - "UPHENO:0052164", - "UPHENO:0050236", - "GO:0050953", "GO:0034101", "UPHENO:0050622", - "HP:0000520", + "UPHENO:0052165", + "UPHENO:0052159", + "UPHENO:0052162", + "UPHENO:0050236", + "GO:0050953", + "UPHENO:0052161", + "UPHENO:0052164", "UPHENO:0085881", - "HP:0000568", - "UPHENO:0075219", + "HP:0000520", + "UPHENO:0068914", "HP:0100887", - "UPHENO:0066972", - "UPHENO:0080581", - "UPHENO:0079837", + "UPHENO:0069161", + "UPHENO:0075219", + "UPHENO:0002467", + "UPHENO:0003044", "HP:0000359", - "HP:0000496", "UPHENO:0079828", + "HP:0031704", + "HP:0000496", "HP:0007670", "UPHENO:0002240", - "UPHENO:0080602", - "UPHENO:0003044", - "HP:0011821", - "HP:0012547", - "HP:0031704", - "UBERON:0003100", + "UPHENO:0079837", "HP:0000008", - "UBERON:0003975", - "UPHENO:0003053", - "UPHENO:0041033", - "HP:0010460", "UPHENO:0005170", - "UBERON:0000993", - "UBERON:0013515", + "UBERON:0003100", "HP:0000130", + "UPHENO:0041664", + "UPHENO:0041033", + "UPHENO:0003053", "HP:0002719", "UPHENO:0076766", - "UBERON:0012358", - "GO:0002262", - "UBERON:0003620", - "UBERON:0006048", + "HP:0010460", + "UBERON:0000993", + "UPHENO:0046471", + "UBERON:0013515", + "UBERON:0003975", + "UPHENO:0002977", "UBERON:5006048", - "UBERON:0015025", - "HP:0001172", + "UBERON:5102389", "UBERON:0015024", - "UPHENO:0021800", + "UBERON:0001463", + "UBERON:0006048", + "UBERON:0015025", "UPHENO:0076724", - "UBERON:5102389", - "GO:0007610", + "HP:0001172", + "UPHENO:0050620", + "GO:0060004", "HP:0000708", - "HP:0001347", - "NBO:0000389", - "UPHENO:0050606", - "UPHENO:0083263", - "UPHENO:0049622", + "HP:0100022", "UBERON:0004742", "NBO:0000388", - "HP:0100022", - "UPHENO:0080585", - "UPHENO:0050613", + "NBO:0000338", + "UPHENO:0083263", + "UPHENO:0050875", + "UPHENO:0050079", + "GO:0007610", + "UPHENO:0051276", + "UPHENO:0079826", + "UPHENO:0055094", + "UPHENO:0049703", + "UPHENO:0049708", "NBO:0000403", + "NBO:0000389", + "UPHENO:0050606", + "UPHENO:0049622", + "UPHENO:0052160", + "UPHENO:0050106", + "UPHENO:0005596", "NBO:0000001", - "GO:0050896", - "UPHENO:0041151", - "UPHENO:0078622", - "UPHENO:0050620", - "GO:0060004", - "UPHENO:0050079", + "UPHENO:0050068", + "UPHENO:0052694", + "UPHENO:0000541", + "UPHENO:0002712", + "HP:0004298", + "UBERON:0000474", + "HP:0010866", "GO:0050905", - "NBO:0000338", - "UPHENO:0080393", - "HP:0001537", - "UPHENO:0076794", + "UPHENO:0033610", "HP:0001551", - "UBERON:0000474", - "HP:0010866", - "UPHENO:0086122", "UBERON:0003697", - "HP:0004298", - "UBERON:0007118", "HP:0003549", + "UPHENO:0076794", + "UBERON:0007118", "HP:0004299", - "UPHENO:0002712", - "UPHENO:0019890", - "UPHENO:0069254", - "UBERON:0002085", + "UBERON:0017672", + "UPHENO:0002564", + "UPHENO:0086122", + "UPHENO:0002532", + "HP:0001560", + "UPHENO:3000001", + "UPHENO:0075949", + "HP:0001197", + "UPHENO:0053456", + "UBERON:0000173", + "UBERON:0000323", + "HP:0001562", + "UPHENO:0086610", + "UBERON:0002081", "UPHENO:0086857", - "UPHENO:0086128", - "UPHENO:0015329", - "UPHENO:0084715", - "HP:0001714", - "UPHENO:0019886", - "HP:0001641", - "HP:0011563", - "UBERON:0010688", - "UPHENO:0086855", - "HP:0000218", - "UBERON:0002146", + "UPHENO:0033587", "GO:0007600", "HP:0001671", - "UBERON:0003037", - "UBERON:0002094", - "HP:0011025", "UPHENO:0086863", - "HP:0001707", - "UPHENO:0084489", - "HP:0001636", - "HP:0011545", - "HP:0002623", - "UPHENO:0086854", - "UPHENO:0042775", + "UPHENO:0069254", + "UBERON:0002085", + "UPHENO:0002907", + "HP:0011994", + "HP:0011563", + "UPHENO:0033596", + "UPHENO:0084715", + "UBERON:0003037", + "UPHENO:0084482", + "UPHENO:0004386", "UBERON:0002099", + "HP:0011545", + "UPHENO:0001101", + "UBERON:0010688", + "UPHENO:0086855", "UPHENO:0086864", - "HP:0031654", - "UPHENO:0084482", - "UPHENO:0076781", - "UBERON:0000383", - "UBERON:0005983", + "UPHENO:0003828", + "UPHENO:0086854", + "HP:0001636", + "UPHENO:0000997", + "UPHENO:0015282", + "UPHENO:0015291", + "HP:0001710", + "UPHENO:0001300", + "UPHENO:0084489", + "HP:0001637", "HP:0001638", + "UPHENO:0066908", + "UPHENO:0077800", + "UPHENO:0088337", + "UPHENO:0002393", "UPHENO:0024906", "UBERON:0018260", - "HP:0001637", 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"UBERON:0003221", + "UPHENO:0087369", + "UBERON:0010709", + "HP:0040068", + "UBERON:0002470", + "UBERON:0012139", + "CL:0000586", + "UBERON:0012359", + "UBERON:0003113", + "UPHENO:0041212", + "UBERON:0010543", + "CL:0000763", + "UPHENO:0002838", + "UPHENO:0049586", + "UBERON:0010742", + "HP:0004349", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "UPHENO:0063581", + "UPHENO:0087501", + "UPHENO:0053563", + "UBERON:0002386", + "UPHENO:0076800", + "UBERON:0002387", + "UBERON:0010538", + "UBERON:0005445", + "UPHENO:0046540", + "UBERON:0012142", + "UBERON:0010758", + "UBERON:0001890", + "UPHENO:0002994", + "UPHENO:0081091", + "UPHENO:0081575", + "UBERON:0004053", + "HP:0040072", + "UBERON:0001441", + "UBERON:0015023", + "UBERON:0000154", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0002964", + "UPHENO:0088140", + "UBERON:0006314", + "UPHENO:0041821", + "UPHENO:0002733", + "HP:0001824", + "UBERON:0004709", + "UPHENO:0086628", + "UPHENO:0076748", + "UBERON:0012152", + "UPHENO:0078375", + "UBERON:0010696", + "NBO:0000444", + "UPHENO:0081344", + "UPHENO:0086866", + "UBERON:0001445", + "UPHENO:0084763", + "HP:0100760", + "UPHENO:0086700", + "UBERON:0004248", + "HP:0011297", + "UPHENO:0076957", + "UPHENO:0001391", + "HP:0100790", + "HP:0010935", + "UPHENO:0075902", + "CL:0000015", + "UPHENO:0002754", + "UBERON:0002137", + "UBERON:0011143", + "UBERON:0007842", + "UBERON:0002113", + "UBERON:0002544", + "UPHENO:0076695", + "UBERON:0000060", + "UPHENO:0087585", + "UBERON:0011159", + "UPHENO:0079872", + "UBERON:0000982", + "UPHENO:0002807", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", "UBERON:0012240", "UBERON:0001734", "UBERON:0005944", "UBERON:0000079", "UBERON:0001716", + "UBERON:0000949", + "UBERON:0001733", + "UPHENO:0087806", + "UPHENO:0002828", + "UPHENO:0003095", + "UBERON:0034768", "UBERON:0002553", - "UPHENO:0076786", - "UBERON:0001703", - "UPHENO:0078215", + "HP:0010293", "UBERON:0004089", - "UPHENO:0088088", - "UBERON:0034768", - "HP:0031816", + "UPHENO:0063514", + "UPHENO:0081570", + "UPHENO:0076781", + "UPHENO:0004476", "UPHENO:0075843", "HP:0000172", - "UPHENO:0081570", + "UBERON:0007375", + "HP:0031816", "HP:0008678", "HP:0012372", "UBERON:0005179", - "UPHENO:0021670", + "HP:0010674", + "HP:0001217", + "UPHENO:0071332", + "UBERON:0001766", + "HP:0001155", + "UBERON:0003101", + "UPHENO:0080201", "HP:0000553", - "UPHENO:0041664", - "UPHENO:0086817", + "GO:0009605", + "UBERON:0004088", + "UPHENO:0088049", + "UBERON:0001464", + "UPHENO:0005231", + "UPHENO:0063794", "UBERON:0000063", + "UPHENO:0001147", "UBERON:0007273", "HP:0008056", - "UBERON:0001272", "GO:0005623", "UBERON:0006311", - "UBERON:0011892", - "UPHENO:0088183", - "UBERON:0004121", - "HP:0000525", - "UBERON:5002544", - "UBERON:0001769", - "HP:0008062", - "UPHENO:0081313", - "UPHENO:0082356", - "UBERON:0001766", - "GO:0009605", - "UBERON:0004088", - "UPHENO:0088049", "UPHENO:0071334", "UPHENO:0080209", - "UPHENO:0079826", - "UPHENO:0072814", + "UBERON:5002544", + "UBERON:0001769", "HP:0000593", + "UBERON:5002389", + "BFO:0000040", + "UPHENO:0071317", + "HP:0034261", + "UPHENO:0076692", + "UPHENO:0046445", + "HP:0008053", + "UPHENO:0054957", + "UPHENO:0074575", + "CL:0000225", + "UPHENO:0054970", "UBERON:0001359", "UPHENO:0074584", "UBERON:0000167", "UBERON:0001442", "HP:0001034", - "CL:0000225", - "UPHENO:0054970", - "UPHENO:0080221", - "UPHENO:0022529", - "HP:0008053", - "UPHENO:0054957", - "UPHENO:0078736", - "HP:0031105", - "UBERON:0002416", - "HP:0000309", - "UPHENO:0082682", - "HP:0012210", - "UPHENO:0059829", - "UPHENO:0074575", - "UPHENO:0080601", - "UPHENO:0086172", - "UPHENO:0074589", - "UPHENO:0084511", - "UPHENO:0066927", - "UBERON:0010000", - "UBERON:0010230", - "HP:0011121", + "UPHENO:0085371", + "UPHENO:0076723", "UBERON:0002384", "UBERON:0012141", - "UBERON:0003101", - "UPHENO:0080201", - "HP:0001155", + "UBERON:0005451", + "UPHENO:0084653", + "HP:0005922", + "UBERON:0002355", + "HP:0006265", + "UPHENO:0046487", "UPHENO:0049940", "UPHENO:0084761", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0085371", - "UPHENO:0076723", - "HP:0045060", - "CL:0000151", - "HP:0001510", - "HP:0001167", + "HP:0000483", + "UPHENO:0001360", + "UPHENO:0003799", "HP:0008373", "HP:0005927", - "UPHENO:0084766", - "UPHENO:0084653", - "UBERON:0005451", - "HP:0005922", - "UPHENO:0082671", + "HP:0045060", + "UPHENO:0076760", + "UPHENO:0084448", + "GO:0007275", + "UPHENO:0078288", + "HP:0001159", "UPHENO:0078179", - "UPHENO:0082835", - "HP:0011849", - "HP:0010469", - "UBERON:0008202", + "UPHENO:0053330", "UPHENO:0082834", "HP:0004209", - "UPHENO:0087203", "UBERON:0002412", "GO:0001503", - "HP:0009179", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", + "HP:0011849", + "UPHENO:0082835", "UPHENO:0076736", - "HP:0000377", - "HP:0004097", + "UBERON:5003625", + "UPHENO:0001031", "HP:0011446", "HP:0030084", + "HP:0000377", + "HP:0004097", + "HP:0001770", + "UPHENO:0086143", "UBERON:0012357", "UPHENO:0084842", "HP:0009824", - "UBERON:5003625", - "UPHENO:0080369", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UBERON:0002094", + "UPHENO:0046552", + "UPHENO:0068839", + "HP:0000478", + "UPHENO:0046554", + "UPHENO:0076804", + "UPHENO:0046505", + "HP:0001763", + "UPHENO:0068921", + "UPHENO:0087612", + "UPHENO:0046594", + "HP:0410014", + "UPHENO:0069292", + "UPHENO:0081581", "UPHENO:0012274", - "UPHENO:0012541", - "UPHENO:0081790", + "CL:0002092", + "UPHENO:0046484", + "HP:0000568", + "UPHENO:0069064", + "UPHENO:0069125", + "UPHENO:0087892", + "UPHENO:0001001", + "UPHENO:0012440", + "UPHENO:0002987", + "UPHENO:0002866", + "UPHENO:0069030", + "UPHENO:0046483", + "UBERON:0001005", + "UPHENO:0046472", + "UBERON:0003126", + "UPHENO:0002967", + "UPHENO:0068838", "UBERON:0012180", + "UPHENO:0063588", "UPHENO:0068971", - "UPHENO:0053580", - "HP:0040019", - "UPHENO:0069293", - "HP:0200007", - "HP:0009821", - "UBERON:0001464", - "UPHENO:0087602", - "UBERON:0001271", - "UBERON:0010425", - "UBERON:0007823", - "UPHENO:0087974", - "UBERON:0004770", + "UPHENO:0046397", + "UPHENO:0012312", + "UPHENO:0002902", + "UPHENO:0076754", + "UPHENO:0069194", + "UPHENO:0003015", + "UBERON:0003828", "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0005913", - "UBERON:0000982", - "HP:0002644", + "UBERON:0003463", + "UPHENO:0066905", + "UBERON:0003840", "HP:0000504", "UPHENO:0002813", + "UPHENO:0046465", "UPHENO:0087980", - "UBERON:0001457", - "UBERON:0008907", - "UPHENO:0079871", - "UBERON:0003463", - "UPHENO:0060026", + "UBERON:0011595", + "UPHENO:0081598", + "UPHENO:0081608", + "UPHENO:0003021", "HP:0001367", - "UBERON:0003828", - "UPHENO:0075945", - "UPHENO:0001001", - "UPHENO:0087892", - "UBERON:0008114", - "UBERON:0007828", - "UBERON:0003840", - "HP:0000271", - "UBERON:0005893", - "UBERON:5002389", - "UPHENO:0087558", - "UBERON:0001712", - "UBERON:0001950", - "UBERON:0003826", - "HP:0012331", + "UBERON:0007832", ], "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation in independent continuant", "decreased biological_process in multicellular organism", - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "decreased qualitatively biological_process in independent continuant", "Hypopigmentation of the skin", + "Abnormal platelet morphology", "Thrombocytopenia", "Abnormal platelet count", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of platelet", - "abnormal platelet", + "decreased number of platelet", + "number of platelet phenotype", + "serotonin secreting cell", "anucleate cell", - "secretory cell", - "abnormal blood cell", - "obsolete cell", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "Abnormal cellular immune system morphology", + "decreased number of hematopoietic cell", + "leukocyte", + "decreased number of anatomical structure in the multicellular organism", + "decreased number of leukocyte in the blood", + "decreased number of anatomical structure", + "Leukopenia", + "nucleate cell", + "motile cell", + "decreased number of anatomical entity in the blood", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "Abnormality of body height", + "decreased height of the multicellular organism", "decreased size of the multicellular organism", - "serotonin secreting cell", - "abnormal size of multicellular organism", + "size of multicellular organism phenotype", + "cellular developmental process", + "decreased number of anatomical entity in the multicellular organism", + "blood cell", + "Pyridoxine-responsive sideroblastic anemia", + "Abnormal bone marrow cell morphology", + "Sideroblastic anemia", + "homeostatic process", + "immune system process", + "cellular process", + "erythrocyte differentiation", + "Abnormal erythroid lineage cell morphology", + "cell development", "Abnormal myeloid cell morphology", "Anemia of inadequate production", - "erythrocyte differentiation", - "Sideroblastic anemia", - "myeloid cell differentiation", "hemopoiesis", "erythroid lineage cell", - "abnormal erythroid lineage cell morphology", - "immune system process", - "cellular process", - "homeostatic process", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", - "erythrocyte", - "myeloid cell", - "blood cell", - "erythrocyte homeostasis", "homeostasis of number of cells", - "cellular developmental process", - "Abnormal morphology of the radius", - "abnormal radius bone morphology", + "erythrocyte homeostasis", + "bone cell", "aplasia or hypoplasia of radius bone", - "radius bone", + "Abnormal morphology of the radius", + "radius bone phenotype", + "radius bone morphology phenotype", "Neurodevelopmental delay", + "shape palpebral fissure", + "Abnormal shape of the palpebral fissure", + "decreased size of the anatomical conduit", + "decreased size of the orifice", + "decreased length of ectoderm-derived structure", "decreased length of palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal size of palpebral fissure", - "abnormality of immune system physiology", - "Abnormality of immune system physiology", - "abnormally localised testis", - "abnormally localised anatomical entity in independent continuant", + "decreased size of the palpebral fissure", + "decreased length of orifice", + "decreased length of anatomical conduit", + "immune system physiology phenotype", + "Unusual infection", + "localised male reproductive organ", + "localised organ", "Cryptorchidism", + "localised anatomical structure", "ureter", + "excretory tube phenotype", "Abnormal ureter morphology", "Abnormality of the ureter", - "abnormal ureter morphology", - "Abnormal renal physiology", "Hypopigmented skin patches", "Abnormality of the urinary system physiology", - "abnormally decreased functionality of the gonad", + "cavitated compound organ physiology phenotype", + "abdominal segment element physiology phenotype", + "kidney physiology phenotype", + "Abnormal renal physiology", + "gonad physiology phenotype", + "decreased functionality of the gonad", + "decreased functionality of the reproductive structure", "Cleft palate", + "incomplete closing of the structure with developmental contribution from neural crest", "Craniofacial cleft", - "increased height of anatomical entity in independent continuant", - "increased height of the anatomical entity", + "incomplete closing of the multi-tissue structure", + "increased size of the structure with developmental contribution from neural crest", + "anatomical entity height phenotype", + "increased height of the anatomical structure", "High palate", - "increased size of the head", - "Increased head circumference", - "skin of head", + "increased height of the material anatomical entity", + "increased height of the roof of mouth", + "increased height of the anatomical entity", + "immune system morphology phenotype", + "increased height of the multicellular anatomical structure", + "increased height of the ectoderm-derived structure", + "increased size of the neural crest-derived structure", + "increased height of the multi-tissue structure", + "number of leukocyte phenotype", + "increased length of the ectoderm-derived structure", + "increased length of the organ part", "increased length of the epicanthal fold", "Epicanthus", - "head or neck skin", - "abnormal skin of face morphology", "upper eyelid", + "skin of head morphology phenotype", + "head or neck skin", "skin of face", "zone of skin", - "abnormal asymmetry of anatomical entity", - "abnormal shape of forehead", + "increased size of the zone of organ", + "skin of head", + "asymmetry of anatomical entity phenotype", + "Abnormal leukocyte count", + "Facial asymmetry", + "asymmetry of face phenotype", + "Sloping forehead", + "forehead morphology phenotype", "sloped anatomical entity", - "mandible hypoplasia", - "bone element hypoplasia in face", - "decreased size of the mandible", - "bone of lower jaw", "lower jaw region", - "facial skeleton", - "facial bone", + "dermal bone phenotype", + "increased height of the structure with developmental contribution from neural crest", + "intramembranous bone phenotype", + "bone element hypoplasia in face", + "secretory cell", + "bone of lower jaw phenotype", + "mandible morphology phenotype", "mandible", - "Abnormal mandible morphology", + "dentary phenotype", "facial bone hypoplasia", + "bone of lower jaw", "anatomical entity hypoplasia in face", - "abnormal mandible morphology", - "Hypoplastic facial bones", - "abnormal facial skeleton morphology", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Hearing abnormality", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "mandible hypoplasia", + "sensory perception of sound", "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "abnormal sensory perception of sound", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", + "Hearing abnormality", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased system process", + "Hearing impairment", + "nose phenotype", + "naris", + "olfactory organ", + "compound organ physiology phenotype", + "posterior nasal aperture morphology phenotype", + "naris atresia", + "posterior nasal aperture", "Abnormal conjugate eye movement", "Strabismus", - "abnormal sensory perception", + "visual perception", "sensory perception of light stimulus", + "decreased qualitatively system process", "decreased qualitatively visual perception", - "visual perception", - "abnormal sensory perception of light stimulus", - "abnormally protruding eyeball of camera-type eye", + "sensory perception phenotype", + "decreased qualitatively nervous system process", "Abnormality of globe size", - "cell development", - "abnormal size of eyeball of camera-type eye", - "cranial nerve related reflex", - "Abnormal vestibular function", - "Abnormality of eye movement", - "abnormality of ear physiology", + "sensory perception of light stimulus phenotype", + "size of eyeball of camera-type eye phenotype", + "decreased size of the ectoderm-derived structure", + "internal ear physiology phenotype", "eye movement", - "abnormal eye movement", - "abnormal physiologic nystagmus", - "abnormal vestibulo-ocular reflex", + "vestibulo-ocular reflex phenotype", "Abnormal vestibulo-ocular reflex", - "internal female genitalia", - "abnormal internal female genitalia morphology", + "Abnormality of eye movement", + "multi organ part structure physiology phenotype", + "Abnormal vestibular function", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", "female organism", - "abnormal uterus", - "abnormal female reproductive system", - "bicornuate anatomical entity", - "Abnormality of the female genitalia", - "Abnormality of the uterus", + "internal female genitalia morphology phenotype", + "decreased functionality of the organ", + "oviduct", "uterus", + "bicornuate anatomical entity", "shape uterus", - "oviduct", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", - "abnormal anatomical entity morphology in the skeleton of manus", - "manual digit 1", + "female reproductive organ morphology phenotype", + "Abnormality of the uterus", + "subdivision of oviduct phenotype", + "internal female genitalia", "Abnormal finger phalanx morphology", - "manual digit 1 digitopodial skeleton", - "abnormal manual digit 1 morphology", "Triphalangeal thumb", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", + "manual digitopodium bone", + "digit 1", + "manual digit 1 morphology phenotype", + "decreased sensory perception", + "manual digit bone", + "number of anatomical entities of type anatomical entity in blood phenotype", + "manual digit 1", + "ureter morphology phenotype", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Abnormality of the immune system", + "manual digit phalanx endochondral element", + "facial bone phenotype", + "manual digit 1 digitopodial skeleton", "manus bone", "excretory tube", "manual digit 1 phalanx endochondral element", - "abnormal incomplete closing of the secondary palate", "phalanx of manus", - "abnormal female reproductive system morphology", - "digit 1 digitopodial skeleton", - "skeleton of manual acropodium", - "skeleton of manual digitopodium", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", - "body part movement", + "manual digit 1 plus metapodial segment", "neuromuscular process", - "voluntary musculoskeletal movement", "kinesthetic behavior", - "multicellular organismal movement", - "Abnormality of movement", - "abnormal voluntary musculoskeletal movement", + "voluntary musculoskeletal movement", + "voluntary movement behavior phenotype", + "system process phenotype", + "reflex phenotype", + "increased response to stimulus", "Recurrent urinary tract infections", "involuntary movement behavior", - "Bicornuate uterus", - "abnormal behavior", - "Hyperreflexia", - "increased qualitatively response to stimulus", + "response to external stimulus phenotype", "reflex", - "abnormal response to external stimulus", + "increased qualitatively response to stimulus", + "Global developmental delay", + "reflexive behavior", + "behavior phenotype", + "Hyperreflexia", + "multicellular organismal movement phenotype", "decreased embryo development", - "abnormal embryo development", - "herniated abdominal wall", - "Abnormality of connective tissue", - "Abnormality of the abdominal wall", + "decreased qualitatively multicellular organismal process", + "anatomical structure development phenotype", + "multicellular organismal process phenotype", + "Growth delay", + "decreased qualitatively anatomical structure development", + "decreased qualitatively embryo development", + "delayed growth", + "embryo development rate phenotype", + "embryo development phenotype", + "Abnormality of vision", + "anatomical wall phenotype", "Hernia", - "herniated anatomical entity", - "Hernia of the abdominal wall", - "Abnormal umbilicus morphology", - "umbilicus", + "Abnormality of connective tissue", + "digit 1 digitopodial skeleton", + "tissue phenotype", + "herniated abdominal wall", "connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", - "abnormal cardiac atrium morphology", + "erythrocyte morphology phenotype", + "umbilicus", + "abdominal wall phenotype", + "herniated anatomical entity", + "facial skeleton", + "abdominal viscera", + "incomplete closing of the organ part", + "embryo phenotype", + "organism substance phenotype", + "Renal insufficiency", + "late embryo", + "Abnormality of prenatal development or birth", + "uterus phenotype", + "Oligohydramnios", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "embryonic development/birth phenotype", + "cardiac atrium morphology phenotype", + "metabolic process", + "Abnormal cardiac septum morphology", "interatrial septum", - "abnormal interatrial septum morphology", - "abnormal cardiac atrium morphology in the independent continuant", "Abnormal atrial septum morphology", - "abnormally increased volume of anatomical entity", - "Abnormal ventricular septum morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "hypertrophic cardiac ventricle", "cardiac septum", - "metabolic process", - "Abnormal cardiac septum morphology", - "increased size of the heart right ventricle", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "abnormal pulmonary valve morphology", - "interventricular septum", - "abnormal cardiac septum morphology", - "Abnormal pulmonary valve physiology", - "abnormality of cardiovascular system physiology", - "skin of eyelid", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "hypertrophic heart right ventricle", - "heart layer", - "Abnormal myocardium morphology", - "layer of muscle tissue", - "abnormal myocardium morphology", - "abnormal abdominal wall", - "embryonic cardiovascular system", - "heart vasculature", - "response to stimulus", - "ductus arteriosus", - "abnormal number of anatomical enitites of type myeloid cell", - "thoracic segment blood vessel", - "coronary vessel", - "abnormal coronary vessel morphology", + "increased size of the cardiac ventricle", + "incomplete closing of the interventricular septum", + "Abnormality of thumb phalanx", + "increased size of the mesoderm-derived structure", + "cardiac septum morphology phenotype", + "right cardiac chamber phenotype", + "cardiac septum phenotype", + "increased size of the lateral structure", + "size of cardiac ventricle phenotype", + "interventricular septum morphology phenotype", + "heart right ventricle morphology phenotype", + "cardiac ventricle phenotype", + "septum phenotype", + "incomplete closing of the cardiac septum", + "cardiac chamber morphology in the heart phenotype", + "hypertrophic cardiac ventricle", + "cardiac chamber phenotype", + "septum", + "increased size of the cardiac chamber", + "incomplete closing of the septum", + "Intrauterine growth retardation", + "decreased functionality of the multicellular anatomical structure", + "mesoderm-derived structure physiology phenotype", + "anatomical entity dysfunction in independent continuant", + "decreased nervous system process", + "decreased functionality of the organ component layer", + "Abnormality of the abdominal wall", + "organ component layer physiology phenotype", + "heart layer phenotype", + "layer of muscle tissue phenotype", + "Abnormal choanae morphology", + "layer of muscle tissue", + "decreased functionality of the material anatomical entity", + "Hypertrophic cardiomyopathy", + "Abnormal myocardium morphology", + "decreased multicellular organism development", + "heart layer", + "decreased functionality of the anatomical entity", + "decreased multicellular organismal process", + "incomplete closing of the trunk blood vessel", + "material anatomical entity morphology in the heart phenotype", + "systemic artery phenotype", + "blood vessel phenotype", + "nervous system process phenotype", + "incomplete closing of the coronary vessel", + "coronary vessel morphology phenotype", + "mesoderm-derived structure morphology in the heart phenotype", + "incomplete closing of the heart blood vessel", + "incomplete closing of the systemic artery", + "incomplete closing of the ductus arteriosus", + "embryonic cardiovascular system", "aplasia or hypoplasia of mandible", "trunk blood vessel", - "abnormal incomplete closing of the ductus arteriosus", + "trunk blood vessel phenotype", "vasculature of organ", - "abnormal female reproductive organ morphology", - "abnormally decreased functionality of the anatomical entity", "vasculature of trunk", "heart blood vessel", + "vessel phenotype", + "arterial blood vessel phenotype", + "heart vasculature", + "sensory perception of sound phenotype", + "response to stimulus", + "ductus arteriosus", + "incomplete closing of the artery", + "incomplete closing of the thoracic segment blood vessel", + "thoracic segment blood vessel", + "myeloid cell", + "incomplete closing of the blood vessel", + "anatomical entity morphology in the heart phenotype", "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", - "aorta", + "anatomical structure morphology in the heart phenotype", + "hematopoietic cell", + "semi-lunar valve", + "neuromuscular process phenotype", + "heart", + "aortic valve morphology phenotype", + "platelet phenotype", + "Abnormal heart morphology", + "Abnormal heart valve morphology", + "semi-lunar valve morphology phenotype", + "heart morphology phenotype", + "internal ear", + "heart left ventricle", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "cardiac valve", "bone of jaw", "aortic system", + "aortic valve", + "thoracic cavity blood vessel", "great vessel of heart", "Abnormal aortic morphology", - "shape longitudinal arch of pes", - "flattened anatomical entity", + "aorta morphology phenotype", + "decreased functionality of the anatomical structure", + "great vessel of heart morphology phenotype", + "aorta", + "decreased number of material anatomical entity in the multicellular organism", "longitudinal arch of pes", - "flattened anatomical entity in independent continuant", "Pes planus", "flat anatomical entity", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "trunk region element physiology phenotype", "Toe syndactyly", - "abnormally fused anatomical entity and pedal digit", - "abnormal shape of frontal cortex", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal head bone morphology", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", + "fused anatomical entity and pedal digit", + "incomplete closing of the anatomical wall", + "pedal digit phenotype", + "anatomical entity morphology in the pelvic complex phenotype", + "platelet", + "Growth abnormality", + "multicellular organism mass phenotype", + "growth", + "radius bone", + "growth phenotype", + "Weight loss", + "obsolete cell", + "material anatomical entity mass phenotype", + "Decreased body weight", + "Abnormality of body weight", + "incomplete closing of the arterial blood vessel", + "decreased material anatomical entity mass", + "anatomical structure mass phenotype", + "decreased multicellular anatomical structure mass", + "Abnormal calvaria morphology", + "frontal cortex morphology phenotype", + "neurocranium morphology phenotype", + "olfactory system morphology phenotype", + "cranium morphology phenotype", "Puberty and gonadal disorders", "central nervous system cell part cluster", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", "lobe of cerebral hemisphere", - "cerebral hemisphere", - "manual digit 1 plus metapodial segment", - "abnormal cerebral hemisphere morphology", - "vault of skull", - "female reproductive system", - "dermal skeleton", + "shape of frontal cortex phenotype", "primary subdivision of skull", - "primary subdivision of cranial skeletal system", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", - "Hearing impairment", - "abnormal neurocranium morphology", + "cranium", + "frontal cortex", "gray matter", "dermal bone", "aplasia or hypoplasia of skull", "frontal lobe", "pallium", - "abnormal vault of skull", - "Abnormality of the forehead", + "prominent forehead", + "brain gray matter phenotype", "forehead", - "abnormal frontal cortex morphology", "tetrapod frontal bone", + "neurocranium bone", + "gray matter of forebrain phenotype", + "decreased number of cell", + "gray matter phenotype", + "cortex of cerebral lobe", + "primary subdivision of cranial skeletal system", + "vault of skull", + "cardiovascular system physiology phenotype", + "prominent anatomical entity", "neurocranium", - "abnormal great vessel of heart morphology", - "frontal cortex", - "abnormal forehead", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", - "abnormal anus", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "skeleton of lower jaw", - "abnormal small intestine", - "abnormal nose morphology", - "abnormal eyelid morphology", - "manus", - "dermatocranium", - "Abnormal axial skeleton morphology", - "neural tube", - "presumptive structure", - "vertebra", - "abnormal ileum morphology", - "neural tube closure", - "cranium", + "bone of craniocervical region", + "cranial bone", + "intramembranous bone", + "membrane bone", + "heart plus pericardium", + "gray matter of forebrain", + "anus", + "closing of the multicellular anatomical structure", + "material anatomical entity atresia", + "jaw skeleton morphology phenotype", + "multicellular anatomical structure atresia", + "closing of the anatomical structure", + "anus morphology phenotype", + "bone marrow", + "anus atresia", + "anus phenotype", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "closing of the ectoderm-derived structure", + "Abnormal ileum morphology", + "parasympathetic nervous system", + "large intestine morphology phenotype", + "autonomic nervous system", + "Abnormal peripheral nervous system ganglion morphology", + "Abnormal autonomic nervous system morphology", + "ganglion of peripheral nervous system", + "Abnormal large intestine morphology", + "interatrial septum morphology phenotype", + "Abnormality of the autonomic nervous system", + "haemolymphatic fluid", + "ganglion morphology phenotype", + "enteric nervous system", + "Aganglionic megacolon", + "enteric ganglion", + "Megacolon", + "lower digestive tract", + "Abnormal ganglion morphology", + "stylopod", + "late embryo phenotype", + "valve", + "Abnormal femur morphology", + "decreased qualitatively pigmentation", + "increased length of the head or neck skin", + "innominate bone", + "hip joint morphology phenotype", + "Aplasia/Hypoplasia of the radius", + "protruding anatomical entity", + "Abnormal pelvic girdle bone morphology", + "pelvic region of trunk", + "hip", + "appendage girdle region", + "girdle skeleton", "trunk bone", - "Aplasia/hypoplasia involving bones of the extremities", - "entire sense organ system", - "abnormal response to stimulus", - "embryo development ending in birth or egg hatching", + "Lower extremity joint dislocation", + "Abnormal hip bone morphology", + "skeletal joint morphology phenotype", + "heart layer morphology phenotype", + "hip dislocation", + "skeletal joint phenotype", + "synovial joint morphology phenotype", + "girdle bone/zone", + "decreased number of material anatomical entity", + "articular system", + "Hip dislocation", + "outflow part of left ventricle morphology phenotype", "vertebral column", - "Abnormality of the vasculature", + "tube closure phenotype", + "ileum", + "embryonic tissue", + "forehead phenotype", + "neural tube closure", + "dermatocranium", + "Abnormal axial skeleton morphology", "Vertebral arch anomaly", - "face", - "aplasia or hypoplasia of manual digit", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "abnormal neural tube morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal heart valve morphology", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", - "abnormal vertebral column", - "abnormal spinal cord morphology", - "Aganglionic megacolon", - "tube formation", + "increased number of brain ventricle in the cerebrospinal fluid", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "incomplete closing of the material anatomical entity", + "anatomical structure morphogenesis", + "Abnormal ear physiology", + "ecto-epithelium", + "Abnormality of the vasculature", + "incomplete closing of the anatomical entity", + "postcranial axial skeleton", + "localised multicellular anatomical structure", "anatomical structure formation involved in morphogenesis", - "abnormal aortic valve morphology", - "Abnormality of the inner ear", - "abnormal vertebral column morphology", - "abnormal common carotid artery plus branches morphology", - "Abnormal anus morphology", - "abnormal anatomical entity mass density", - "abnormal systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "epithelium development", - "abnormal head", - "artery", - "jaw region", - "arterial system", - "Decreased bone element mass density", - "Abnormal cranial nerve physiology", + "tube formation", + "eyelid morphology phenotype", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "incomplete closing of the vessel", + "presumptive structure", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "entire sense organ system", + "formed organ part", + "bony vertebral centrum", "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", "Clubbing", + "head bone", + "shape digit", + "peripheral nervous system morphology phenotype", + "Abnormal spinal cord morphology", + "nerve phenotype", + "developmental process", + "increased size of the heart right ventricle", + "nervous system morphology phenotype", + "ectoderm-derived structure physiology phenotype", + "manual digit 1 or 5", + "abdominal segment bone", + "Cranial nerve paralysis", + "increased number of multicellular anatomical structure", "Spinal dysraphism", - "decreased qualitatively pigmentation", - "decreased multicellular organism mass", - "innominate bone", "Frontal bossing", "nerve", - "gray matter of forebrain", - "heart plus pericardium", - "Abnormality of the orbital region", - "roof of mouth", - "Pulmonic stenosis", - "Abnormal peripheral nervous system morphology", - "Atypical behavior", - "Abnormal upper limb bone morphology", - "chemosensory system", - "abnormally decreased number of anatomical entity", - "paralysed cranial nerve", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "neural tube formation", - "postcranial axial skeletal system", - "Clubbing of toes", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "skeletal system", - "curved anatomical entity in independent continuant", - "hindlimb skeleton", - "endochondral bone", - "subdivision of skeleton", + "esophagus morphology phenotype", + "cranial nerve", + "internal naris atresia", + "musculature of body", + "nerve of head region", + "phenotype", + "anatomical space", + "pelvic appendage", + "body part movement", + "cranial nerve phenotype", + "artery phenotype", + "autopodial extension", + "Abnormal cranial nerve physiology", "appendage girdle complex", - "subdivision of head", - "ulna endochondral element", - "abnormal shape of cornea", - "abnormal forebrain morphology", + "Abnormal limb bone morphology", + "reproductive process", + "kidney phenotype", + "limb morphology phenotype", + "cognition", + "leukocyte morphology phenotype", + "skeletal element phenotype", + "nerve of head region phenotype", + "decreased functionality of the myocardium", + "limb bone phenotype", + "face", + "multicellular anatomical structure mass phenotype", + "aplasia or hypoplasia of manual digit", + "bone of pectoral complex morphology phenotype", + "increased number of brain ventricle/choroid plexus", + "vertebral column phenotype", + "Hernia of the abdominal wall", + "autopodial extension phenotype", + "Abnormal forearm bone morphology", + "forelimb zeugopod morphology phenotype", "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "Abnormal morphology of ulna", + "femur", + "skull", + "cerebral hemisphere", + "bone of pectoral complex phenotype", + "vault of skull phenotype", + "epithelium development", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "cerebral hemisphere gray matter", + "skin of body", + "Abnormal peripheral nervous system morphology", + "arm bone phenotype", + "olfactory organ phenotype", + "multi-limb segment region phenotype", + "Nystagmus", + "esophagus", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "endochondral element phenotype", + "forelimb bone phenotype", + "bone element", + "decreased reproductive process", + "skeletal element", + "zeugopod", + "system development", "pectoral appendage", "deviation of manual digit 5 towards the middle", - "abnormal opening of the anatomical entity", - "bone element", - "Abnormality of limbs", - "abnormal number of anatomical enitites of type platelet", - "abnormal forelimb zeugopod morphology", - "Abnormal forebrain morphology", + "bony vertebral centrum morphology phenotype", + "Abnormality of the upper limb", + "reproductive system morphology phenotype", + "olfactory system", + "Neoplasm by anatomical site", + "limb", + "increased size of the material anatomical entity", + "respiratory system", + "hip joint", + "Small intestinal stenosis", + "flat longitudinal arch of pes", + "neuron projection bundle phenotype", + "Abnormal morphology of ulna", + "multicellular organismal reproductive process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "pectoral appendage skeleton", + "alimentary part of gastrointestinal system phenotype", + "ulna endochondral element", + "localised gonad", "paired limb/fin", + "incomplete closing of the skeletal element", + "absent sperm", + "subdivision of skeleton", + "shape of forehead phenotype", + "endochondral bone", + "decreased number of anatomical entity", + "Abnormal forebrain morphology", + "Abnormal forearm morphology", + "vertebra", + "multicellular organism height phenotype", "forelimb long bone", - "abnormal size of skull", - "limb segment", - "septum", - "Abnormality of limb bone morphology", - "developing anatomical structure", - "skeleton of limb", - "forelimb zeugopod skeleton", - "prepuce", - "subdivision of oviduct", - "limb bone", - "pectoral appendage skeleton", - "Abnormal forearm bone morphology", - "morphogenesis of an epithelium", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "abnormal digestive system morphology", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "spinal cord", - "appendicular skeleton", - "zeugopod", - "skeletal element", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Abnormal long bone morphology", - "absent sperm in the semen", - "vasculature", - "Spina bifida", - "circulatory system", - "embryonic morphogenesis", - "abnormal liver", + "vertebral element", + "pelvic region element phenotype", + "viscus", + "reproductive organ phenotype", + "decreased size of the skeletal element", + "bone of free limb or fin", + "arch of centrum of vertebra phenotype", + "limb endochondral element", + "neural tube formation", + "neuron projection bundle", + "digestive system gland phenotype", + "increased length of the skin of eyelid", + "internal male genitalia phenotype", + "Abnormal appendicular skeleton morphology", + "paired limb/fin phenotype", + "Abnormal internal genitalia", + "localised testis", + "decreased qualitatively sensory perception of light stimulus", + "forelimb morphology phenotype", + "Myelodysplasia", "Abnormal blood vessel morphology", - "decreased pigmentation in independent continuant", - "tissue development", - "venous blood vessel", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal blood vessel morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal embryo morphology", - "Abnormal venous morphology", + "parasympathetic ganglion", + "formed ectoderm-derived structure", + "decreased size of the arm bone", + "cardiovascular system phenotype", + "anatomical cluster phenotype", + "blood", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "cortex of cerebral lobe", - "abnormal vascular system morphology", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", - "cardiovascular system", - "blood vasculature", - "tube development", "acropodium region", + "coronary vessel", + "cranial nerve physiology phenotype", + "ventricle of nervous system", + "paralysed anatomical entity", + "multi-limb segment region", "blood vessel", - "germ cell", + "compound organ", + "eye", + "venous system", "outflow tract", - "abnormal vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", - "penis", - "Orofacial cleft", - "digestive system element", - "intromittent organ", - "vein", - "multi cell part structure", - "abnormal prepuce of penis morphology", - "myocardium", - "external ear", - "abnormal telencephalon morphology", + "germ cell", + "Abnormal long bone morphology", + "vasculature", + "upper urinary tract phenotype", "Abnormal jaw morphology", "Meckel diverticulum", "irregular bone", "organism", "secondary palate", - "autopod bone", - "Neurodevelopmental abnormality", - "manual digit phalanx endochondral element", - "Abnormality of the immune system", - "abnormal skin of head morphology", - "abnormal neural tube closure", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "nervous system process", + "male reproductive organ morphology phenotype", "skeleton of digitopodium", + "myeloid cell homeostasis", + "glans penis", + "synovial joint of pelvic girdle morphology phenotype", "Abnormal preputium morphology", - "forelimb bone", - "Abnormal uvula morphology", - "abnormal central nervous system morphology", - "ventricular system of central nervous system", + "penis morphology phenotype", + "immune system phenotype", + "digit phenotype", + "mouth phenotype", + "Abnormality of limbs", + "craniocervical region phenotype", + "cornea morphology phenotype", + "leg bone", + "Abnormal skin morphology", + "multi-tissue structure phenotype", + "opaque anatomical entity", + "decreased anatomical structure mass", + "forelimb zeugopod bone phenotype", + "pigmentation", + "developing anatomical structure", + "skeleton of limb", + "Abnormality of skin pigmentation", + "female reproductive system", + "dermal skeleton", + "phenotypic effect", + "aplasia or hypoplasia of iris", + "pigmentation phenotype", + "heart left ventricle morphology phenotype", + "individual digit of digitopodial skeleton", + "Umbilical hernia", + "Arteriovenous malformation", + "increased size of the multi-tissue structure", + "head bone morphology phenotype", + "Abnormal eye morphology", + "incomplete closing of the secondary palate", + "increased length of the material anatomical entity", + "subdivision of skeletal system phenotype", + "integument", + "Abnormal connection of the cardiac segments", + "leg phenotype", + "cardiac atrium", + "Abnormality of the integument", + "genitourinary system phenotype", + "Abnormality of the forehead", + "mouth morphology phenotype", + "multicellular organismal process", + "bone of pelvic complex", + "system process", + "sensory perception", + "number of anatomical enitites of type anatomical entity phenotype", + "Neurodevelopmental abnormality", + "nervous system physiology phenotype", + "process", "Abnormal shape of the frontal region", "central nervous system", - "abnormal arm", "Abnormality of limb bone", "autopod endochondral element", - "cognition", - "ventricular system of brain", "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", + "mandible phenotype", + "autonomic ganglion", + "axial skeletal system", + "brain", + "ventricular system of central nervous system", + "neural crest-derived structure, curved phenotype", + "number of anatomical enitites of type organ part phenotype", + "musculature phenotype", + "reproductive system physiology phenotype", + "myeloid cell differentiation", + "increased number of organ part", + "decreased biological_process in skin of body", + "alimentary part of gastrointestinal system morphology phenotype", + "eyeball of camera-type eye", "decreased length of forelimb zeugopod bone", - "abnormally increased number of anatomical entity", - "Facial asymmetry", - "Abnormal leukocyte count", - "anatomical entity dysfunction in independent continuant", - "abnormal brain morphology", - "abnormal heart layer morphology", - "Abnormal frontal bone morphology", - "Abnormality of lower limb joint", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "cerebrospinal fluid", - "Abnormal cardiovascular system physiology", + "digit 1 plus metapodial segment", + "Abnormality of the anus", + "cerebrospinal fluid morphology phenotype", + "synovial joint", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "increased number of anatomical entity in the cerebrospinal fluid", + "facial bone", + "increased number of brain ventricle", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "size of heart right ventricle phenotype", + "Abnormality of the urinary system", + "incomplete closing of the neural crest-derived structure", "Abnormal cerebrospinal fluid morphology", - "Hydrocephalus", + "external soft tissue zone", + "Abnormal mandible morphology", + "skeletal system phenotype", + "male gamete generation phenotype", + "digit plus metapodial segment", + "head", + "internal genitalia phenotype", + "bone of appendage girdle complex phenotype", + "Abnormal esophagus morphology", + "increased number of anatomical structure in the cerebrospinal fluid", + "organism subdivision", + "multicellular organismal-level homeostasis", + "chordate embryonic development", + "anterior segment of eyeball", + "Abnormal morphology of the great vessels", + "pectoral complex", + "Abnormality of the peripheral nervous system", + "trunk region element", + "endoderm-derived structure", + "lateral structure", + "Orofacial cleft", + "digestive system element", + "Abnormal digestive system morphology", + "Tracheoesophageal fistula", + "spinal cord morphology phenotype", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "nervous system process", + "limb bone morphology phenotype", + "Aplasia/Hypoplasia affecting the eye", + "Abnormal gastrointestinal tract morphology", + "embryonic morphogenesis", + "phalanx of pes morphology phenotype", + "body proper", + "opening of the anatomical entity", + "cell phenotype", + "tracheobronchial tree morphology phenotype", + "subdivision of organism along main body axis phenotype", + "tunica fibrosa of eyeball", + "anatomical structure physiology phenotype", + "mesoderm-derived structure phenotype", + "appendage", + "Abnormal facial shape", + "location of anatomical entity phenotype", + "tube morphogenesis", + "camera-type eye morphology phenotype", + "brain gray matter", + "embryo development", + "Abnormal tracheobronchial morphology", + "eukaryotic cell", + "Abnormal brain morphology", + "size of brain ventricle phenotype", + "limb phenotype", + "Abnormal anterior eye segment morphology", + "organ subunit", + "absent sperm in the semen", + "increased number of material anatomical entity in the cerebrospinal fluid", + "connective tissue phenotype", + "increased biological_process", + "digestive tract", + "face morphology phenotype", + "Abnormal external genitalia", + "arm phenotype", + "digestive system phenotype", + "Abnormal respiratory system physiology", + "reproductive structure physiology phenotype", + "Short stature", + "Abnormality of the vertebral column", + "reproductive organ physiology phenotype", + "anatomical structure formation involved in morphogenesis phenotype", + "male reproductive organ", + "sensory perception of mechanical stimulus phenotype", + "internal naris phenotype", + "disconnected anatomical group", + "cerebral cortex", + "tracheobronchial tree", + "decreased size of the forelimb bone", + "tube development", + "multicellular anatomical structure phenotype", + "Abnormal toe morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "Abnormality of the urethra", + "immaterial entity", + "Abnormal systemic arterial morphology", + "renal system", + "peripheral nervous system", + "Abnormal anterior chamber morphology", + "zeugopodial skeleton", + "head morphology phenotype", + "forelimb skeleton", + "immune system", + "endocrine system", + "sense organ physiology phenotype", + "ear physiology phenotype", + "uterus morphology phenotype", + "Abnormal neural tube morphology", + "Abnormal enteric ganglion morphology", + "excretory system", + "craniocervical region morphology phenotype", + "tube", + "increased number of ventricle of nervous system", + "male reproductive system", + "forelimb endochondral element", + "physiologic nystagmus", + "hemolymphoid system", + "organ subunit phenotype", + "respiratory tract", + "amniotic fluid phenotype", + "respiratory tube", + "glans", + "erythrocyte", + "anatomical entity physiology phenotype", + "developmental process phenotype", + "limb endochondral element phenotype", + "blood vasculature", + "ectoderm-derived structure, asymmetrically curved phenotype", + "increased reflex", + "long bone", + "material entity", + "cardiovascular system", + "number of sperm phenotype", + "skin of body phenotype", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "decreased length of limb bone", + "structure with developmental contribution from neural crest", + "intromittent organ phenotype", + "Abnormal cerebral ventricle morphology", + "pelvic girdle bone/zone morphology phenotype", "Neural tube defect", + "prepuce", + "decreased male gamete generation", "organ system subdivision", - "abnormal nervous system morphology", + "Syndactyly", + "skeletal system morphology phenotype", + "increased number of ventricle of nervous system in the cerebrospinal fluid", + "Abnormal peripheral nerve morphology by anatomical site", + "independent continuant", + "anatomical line between pupils", + "reproductive system", + "thoracic cavity element", + "skeleton", + "multicellular organism", + "Abnormality of the orbital region", + "decreased size of the limb endochondral element", + "roof of mouth", + "neural tube development", + "external genitalia", + "camera-type eye", + "decreased number of myeloid cell", + "Abnormality of mental function", + "external male genitalia phenotype", + "increased number of organ component layer in the cerebrospinal fluid", "forelimb zeugopod bone", + "head phenotype", + "vascular system morphology phenotype", + "Abnormal digit morphology", + "penis phenotype", + "structure with developmental contribution from neural crest physiology phenotype", + "bone of pectoral complex", + "decreased length of anatomical entity", + "anatomical entity mass phenotype", + "Decreased anatomical entity mass", + "entity", + "Abnormal form of the vertebral bodies", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "gray matter of telencephalon", + "urethral meatus", + "dorsal region element", + "Abnormality of the cardiovascular system", + "central nervous system gray matter layer", + "pedal digit bone", + "increased length of the non-material anatomical boundary", + "chamber of eyeball", + "Clinodactyly", + "palatine uvula", + "reproductive structure phenotype", + "quality", + "central nervous system cell part cluster phenotype", + "anatomical collection phenotype", "Abnormal toe phalanx morphology", "arch of centrum of vertebra", - "abnormality of internal male genitalia physiology", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal nervous system", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "Abnormal nervous system morphology", - "sense organ", - "material entity", - "increased reflex", - "long bone", - "internal male genitalia", - "curved anatomical entity", - "digestive system", - "decreased length of long bone", - "abnormal anatomical entity morphology in the brain", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "anatomical line between pupils", - "abnormal neocortex morphology", - "decreased biological_process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal heart morphology", - "appendage girdle region", - "dorsum", - "cranial nerve", - "testis", + "Abnormal leukocyte morphology", + "axial skeleton plus cranial skeleton", + "increased length of the skin of face", + "decreased size of the limb bone", + "central nervous system morphology phenotype", + "shape of external ear phenotype", + "anatomical conduit phenotype", + "skeleton of lower jaw", + "common carotid artery plus branches morphology phenotype", + "eyelid", + "endochondral bone phenotype", + "Abnormality of the ear", + "decreased qualitatively developmental process involved in reproduction", + "Abnormal male urethral meatus morphology", + "reproductive structure", + "epithelial tube", + "decreased height of the anatomical entity", + "decreased developmental process involved in reproduction", + "Abnormality of the eye", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "decreased anatomical structure development", + "anatomical structure phenotype", "anatomical system", "upper digestive tract", - "Small intestinal stenosis", - "male gamete generation", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "Abnormality of blood and blood-forming tissues", - "abnormality of multicellular organism height", - "abnormal limb morphology", - "upper urinary tract", - "right cardiac chamber", - "manual digitopodium region", - "abnormal enteric nervous system morphology", - "Abnormality of male external genitalia", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal voluntary movement behavior", - "tissue", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "abnormal amniotic fluid", - "system process", - "male gamete", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "embryo", - "Absent testis", - "abnormal limb bone", - "anatomical structure morphogenesis", - "Aplasia/Hypoplasia affecting the uvea", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "vessel", - "lateral structure", - "abnormal blood cell morphology", - "abnormal cell", - "male reproductive organ", - "disconnected anatomical group", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "Anal atresia", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "anterior region of body", - "Abnormality of the upper limb", - "entity", - "Decreased anatomical entity mass", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "All", - "Abnormal bone structure", - "system development", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "manual digit", - "abnormal reproductive process", - "abnormal shape of continuant", - "pulmonary valve", - "cellular organisms", - "vertebral element", - "viscus", - "bone of free limb or fin", - "abnormal pedal digit morphology", - "abnormal ear", - "Abnormal external genitalia", - "material anatomical entity", - "abnormal internal naris", - "Cranial nerve paralysis", - "developmental process", - "abnormal ureter", - "absent anatomical entity in the independent continuant", - "manual digit 1 or 5", - "abdominal segment bone", - "gonad", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "ganglion", - "sensory system", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "absent sperm in the independent continuant", - "pelvic region element", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "abnormal internal genitalia", - "ocular surface region", - "internal genitalia", - "limb", - "respiratory system", - "hip joint", - "cell", - "abnormal interventricular septum morphology", - "Abnormality of the mouth", - "abnormal ductus arteriosus morphology", - "Finger syndactyly", - "abnormal peripheral nervous system morphology", - "bodily fluid", - "multi-tissue structure", - "abnormal ear morphology", - "abnormal number of anatomical enitites of type sperm", - "hepatobiliary system", - "subdivision of skeletal system", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "dorsal region element", - "Abnormality of the cardiovascular system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "exocrine system", - "Abnormality of the genitourinary system", - "shape digit", - "head bone", - "absent germ cell", - "Abnormal heart valve physiology", - "changed biological_process rate", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal systemic arterial morphology", - "spermatogenesis", - "abnormal shape of palpebral fissure", - "delayed biological_process", - "systemic artery", - "developmental process involved in reproduction", - "Abnormality of the nose", - "organism substance", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "neural tube development", - "external genitalia", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "hematopoietic system", - "multicellular anatomical structure", - "abnormal leukocyte morphology", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormal heart morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "Abnormal spinal cord morphology", - "neuron projection bundle", - "Abnormal esophagus morphology", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "abnormal bone element mass density", - "main body axis", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal cardiac atrium morphology in the heart", - "morphogenesis of embryonic epithelium", - "haploid cell", - "conceptus", - "abnormal vertebra morphology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "epithelial tube morphogenesis", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "abnormal male reproductive organ morphology", + "sense organ phenotype", + "multicellular anatomical structure morphology in the heart phenotype", + "Abnormality of reproductive system physiology", + "appendicular skeleton morphology phenotype", "occurrent", "pedal digit phalanx endochondral element", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", + "organ", + "pedal digit plus metapodial segment", "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormal small intestine morphology", - "Azoospermia", - "platelet", - "Growth abnormality", - "hip", - "primary neural tube formation", - "renal pelvis/ureter", - "male urethral meatus", - "reproductive organ", - "anus atresia", - "abnormal skull morphology", - "Short long bone", - "Ventricular septal defect", - "small intestine", - "subdivision of organism along main body axis", - "prominent forehead", - "abnormal incomplete closing of the arch of centrum of vertebra", - "segment of manus", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "aplasia or hypoplasia of anatomical entity", - "limb long bone", - "compound organ", - "eye", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "external male genitalia", - "Hypogonadism", - "urethral opening", - "arm bone", - "Abnormal reflex", - "hindlimb joint", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", + "multicellular anatomical structure physiology phenotype", + "increased number of organ component layer", + "nervous system", + "anatomical projection phenotype", + "anatomical system physiology phenotype", + "Displacement of the urethral meatus", + "organ part physiology phenotype", + "skin of body morphology phenotype", + "voluntary musculoskeletal movement phenotype", + "brain ventricle phenotype", + "material anatomical entity", + "Abnormality of immune system physiology", + "localised anatomical entity", + "organ system subdivision phenotype", + "simple eye phenotype", + "homeostatic process phenotype", + "behavior", + "abdomen element", + "protruding eyeball of camera-type eye", + "embryonic epithelial tube formation", + "respiratory airway", + "subdivision of trunk", + "multicellular organismal movement", + "fused anatomical entity and anatomical entity", + "neural tube", + "male urethra", + "organ part", + "Decreased bone element mass density", + "material anatomical entity phenotype", "Short palpebral fissure", + "umbilicus morphology phenotype", "Abnormal skeletal morphology", "increased pigmentation", + "Abnormality of the genital system", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "shape of continuant phenotype", + "deviation of digit towards the middle", + "lower urinary tract", + "Abnormality of globe location", + "jaw region", + "artery", + "telencephalon phenotype", + "curved anatomical entity", + "anatomical entity morphology phenotype", + "decreased length of long bone", + "subdivision of organism along appendicular axis", + "decreased length of endochondral element", + "Abnormal cell morphology", + "Abnormal palate morphology", + "articulation", + "cornea, curved phenotype", + "mesoderm-derived structure", + "autopod bone", + "system", + "anatomical structure, curved phenotype", + "brain morphology phenotype", + "subdivision of head", + "increased number of ectoderm-derived structure", + "musculoskeletal movement phenotype", + "anterior chamber of eyeball morphology phenotype", + "transparent eye structure", + "dentary", + "behavior process phenotype", + "femur endochondral element", + "organ component layer phenotype", + "subdivision of tube", + "Abnormality of the inner ear", + "vertebra morphology phenotype", + "Decreased fertility in males", + "taxon specific phenotype", + "anatomical structure", + "subdivision of oviduct", + "limb bone", + "subdivision of digestive tract phenotype", + "cerebral cortex morphology phenotype", + "urethra phenotype", + "Abnormality of the lower urinary tract", + "Hypogonadism", + "urethral opening", + "arm bone", "skeleton of pectoral complex", "specifically dependent continuant", - "abnormal autonomic nervous system morphology", - "ganglion of peripheral nervous system", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", - "Abnormal ear physiology", - "ecto-epithelium", - "abnormal closing of the anatomical entity", - "reproductive structure", - "tunica fibrosa of eyeball", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "upper limb segment", - "biological_process", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "absent gamete", - "naris", - "iris", - "abnormal number of anatomical enitites of type anatomical entity", - "organ", - "pedal digit plus metapodial segment", - "reproduction", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "Abnormality of the peripheral nervous system", - "trunk region element", - "cerebral cortex", - "tracheobronchial tree", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "abnormal synovial joint morphology", - "reproductive system", - "multi-limb segment region", - "ventricle of nervous system", - "paralysed anatomical entity", - "pelvic appendage", - "abnormal eyeball of camera-type eye", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "body proper", - "abnormal respiratory tube morphology", - "Abnormal morphology of female internal genitalia", - "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", - "process", - "vestibulo-auditory system", - "anterior uvea", - "abnormality of camera-type eye physiology", - "organism subdivision", - "Dolichocephaly", - "common carotid artery plus branches", - "drooping eyelid", - "Abnormal cardiac ventricle morphology", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", - "external soft tissue zone", - "digit plus metapodial segment", - "head", - "abnormal reproductive system", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "ileum", - "embryonic tissue", - "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "Syndactyly", - "abnormal head morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Sloping forehead", - "abnormal manual digit 5 morphology", - "non-connected functional system", - "digestive tract", - "subdivision of digestive tract", - "Abnormal pinna morphology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "abnormality of cranial nerve physiology", - "independent continuant", - "abnormal pigmentation", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "Abnormal ear morphology", - "Abnormal morphology of the great vessels", - "pectoral complex", - "venous system", + "decreased length of arm bone", + "increased size of the zone of skin", + "cornea phenotype", + "formed chamber of eyeball", + "Decreased head circumference", + "anatomical entity", + "localised material anatomical entity", + "ear phenotype", "musculoskeletal movement", "decreased qualitatively biological_process", - "anatomical entity", - "abnormal trachea morphology", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "behavior process", - "anterior chamber of eyeball", - "abnormal development of anatomical entity", - "increased biological_process", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "embryonic epithelial tube formation", - "respiratory airway", - "abnormal secondary palate morphology", - "subdivision of tube", - "Abnormal respiratory system morphology", - "Abnormal lens morphology", - "Multiple cafe-au-lait spots", - "system", - "transparent eye structure", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", - "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", - "brain gray matter", - "embryo development", - "Abnormal tracheobronchial morphology", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormal postcranial axial skeleton morphology", - "multicellular organismal-level homeostasis", - "chordate embryonic development", - "anterior segment of eyeball", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal palpebral fissure", - "abnormal tube formation", - "thoracic segment of trunk", - "pes bone", - "abnormal bone of pelvic complex morphology", - "arm", - "Short stature", - "Abnormality of the vertebral column", - "abnormal digestive system", - "flat longitudinal arch of pes", - "abnormal bone of pectoral complex morphology", - "orifice", - "craniocervical region", - "abnormal developmental process", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", - "Nystagmus", - "esophagus", - "physiologic nystagmus", - "hemolymphoid system", - "Lower extremity joint dislocation", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "Hip dislocation", - "skeleton", - "multicellular organism", - "thoracic cavity element", - "Abnormal penis morphology", + "increased volume of anatomical entity", + "forelimb bone", + "Abnormal uvula morphology", + "endochondral element", + "anatomical entity hypoplasia", "Intellectual disability", - "abnormal ocular adnexa", "embryonic structure", + "endoderm-derived structure phenotype", "brain ventricle/choroid plexus", "proximo-distal subdivision of respiratory tract", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "organ subunit", - "Abnormal neural tube morphology", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of the testes", - "left cardiac chamber", - "Slanting of the palpebral fissure", - "Abnormal anterior eye segment morphology", + "Abnormal penis morphology", + "appendage phenotype", + "Hypoplastic facial bones", + "organism subdivision phenotype", + "arm", + "forelimb zeugopod skeleton", + "male reproductive organ phenotype", + "ocular surface region", + "thoracic segment of trunk", + "bone of jaw phenotype", + "number of anatomical enitites of type material anatomical entity phenotype", + "tetrapod frontal bone morphology phenotype", + "pes bone", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "Abnormality of the respiratory system", + "segment of autopod", + "ductus arteriosus morphology phenotype", + "increased pigmentation in skin of body", + "cranial neuron projection bundle phenotype", + "Abnormal male reproductive system physiology", + "reproductive organ", + "Abnormality of the digestive system", + "anatomical structure development", + "arterial blood vessel", + "decreased spermatogenesis", + "limb segment", + "external genitalia phenotype", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "size of palpebral fissure phenotype", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "Abnormal curvature of the vertebral column", + "multi cell part structure phenotype", + "ureter phenotype", + "hematopoietic system", + "multicellular anatomical structure", + "reproductive system phenotype", + "hindlimb endochondral element", + "ventricular system of brain", + "innominate bone morphology phenotype", + "eye phenotype", + "structure with developmental contribution from neural crest phenotype", + "Abnormal vertebral morphology", + "Abnormal male external genitalia morphology", + "localised reproductive organ", + "glandular system", + "myocardium", + "external ear", + "decreased length of bone of appendage girdle complex", + "bone of appendage girdle complex", + "anatomical wall", + "closing of the material anatomical entity", + "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid", + "sensory system", + "Scoliosis", + "multicellular anatomical structure, curved phenotype", + "Almond-shaped palpebral fissure", + "response to stimulus phenotype", + "Abdominal wall defect", + "material anatomical entity physiology phenotype", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "cerebrospinal fluid", + "main body axis", + "tissue development", + "venous blood vessel", + "camera-type eye phenotype", + "physiologic nystagmus phenotype", + "increased size of the immaterial anatomical entity", + "manus", + "chemosensory system", + "organ physiology phenotype", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "renal system phenotype", + "bone marrow cell", + "multicellular organism phenotype", + "upper limb segment", + "biological_process", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "camera-type eye physiology phenotype", + "blood vessel morphology phenotype", + "zone of skin morphology phenotype", + "ganglion", + "subdivision of head phenotype", + "Abnormality of the curvature of the cornea", + "cell", + "Abnormality of the mouth", + "Finger syndactyly", + "lower respiratory tract", + "visual system", + "uvea morphology phenotype", + "bone of craniocervical region phenotype", + "structure with developmental contribution from neural crest, curved phenotype", + "renal system physiology phenotype", + "multicellular organism morphology phenotype", + "anatomical structure, asymmetrically curved phenotype", + "Hypermelanotic macule", + "simple eye", + "Abnormality of the skeletal system", + "zone of organ phenotype", + "trachea", + "Deviation of finger", + "subdivision of digestive tract", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "number of anatomical enitites of type organ component layer phenotype", + "Abnormal lens morphology", + "simple eye physiology phenotype", + "Anal atresia", + "anatomical conduit", + "Abnormality of the head", + "Abnormal enteric nervous system morphology", + "future central nervous system", + "absent anatomical structure in the multicellular organism", + "craniofacial/craniocervical phenotype", + "fused pedal digit and pedal digit", + "ocular surface region morphology phenotype", + "decreased length of anatomical structure", "cornea", "abdominal wall", "3-D shape anatomical entity", + "external male genitalia", + "brain ventricle/choroid plexus morphology phenotype", + "orifice", "shape cornea", - "lower respiratory tract", - "visual system", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "Abnormality of the ear", - "eyelid", - "abnormally decreased number of leukocyte", + "multicellular organism development phenotype", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal vascular morphology", + "Abnormality of skull size", + "decreased length of bone of pectoral complex", + "ventricle of nervous system phenotype", + "increased number of anatomical structure", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormality of body height", + "decreased size of the mesoderm-derived structure", + "neural crest-derived structure, asymmetrically curved phenotype", + "non-material anatomical boundary", + "Abnormality of head or neck", + "cardiac chamber", + "eye physiology phenotype", + "lower urinary tract phenotype", + "non-connected functional system", + "increased number of anatomical entity", + "increased height of the neural crest-derived structure", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "anatomical system phenotype", + "incomplete closing of the abdominal wall", + "Clinodactyly of the 5th finger", + "sense organ", "orbital region", - "abnormal alimentary part of gastrointestinal system", - "Abnormal carotid artery morphology", - "Astigmatism", - "pelvic girdle region", - "paired limb/fin segment", - "multicellular organism development", - "Ventriculomegaly", - "abnormal posterior nasal aperture morphology", - "curvature anatomical entity", - "abnormal camera-type eye morphology", - "abnormal orbital region", - "abnormal bony vertebral centrum morphology", - "simple eye", - "anus", - "Abnormal skull morphology", - "sensory perception", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Weight loss", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "growth", - "cardiac valve", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Decreased body weight", - "autopodial extension", - "abnormal forelimb zeugopod bone", - "valve", - "endochondral element", - "anatomical entity hypoplasia", - "abnormal cardiac ventricle morphology", - "motile cell", - "abnormal leg", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "internal ear", - "heart left ventricle", - "epithelium", - "autopodial skeleton", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "Opisthokonta", - "Abnormality of digestive system morphology", - "Abnormality of the ocular adnexa", + "hypertrophic heart right ventricle", + "vasculature phenotype", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "anterior segment of eyeball morphology phenotype", + "face phenotype", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "curvature anatomical entity", + "increased number of material anatomical entity", + "skeletal system", + "hindlimb skeleton", + "protein-containing material entity", + "anatomical entity phenotype", + "gamete generation", + "organ part phenotype", + "male organism", + "fused pedal digit and anatomical entity", + "Irregular hyperpigmentation", + "lateral structure phenotype", + "pelvic girdle region", + "paired limb/fin segment", + "multicellular organism development", + "Ventriculomegaly", + "urethra", + "thoracic segment organ", + "Astigmatism", + "Abnormal carotid artery morphology", + "anterior region of body", + "Abnormal reproductive system morphology", + "lateral structure physiology phenotype", + "synovial joint of pelvic girdle", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "upper leg bone", + "multicellular anatomical structure, asymmetrically curved phenotype", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "asymmetrically curved cornea", + "decreased qualitatively reproductive process", + "dermal skeletal element phenotype", + "neural crest-derived structure", + "incomplete closing of the interatrial septum", + "epithelial tube formation", + "digestive system element phenotype", + "brain ventricle morphology phenotype", + "Abnormal umbilicus morphology", + "increased number of organ part in the cerebrospinal fluid", + "Abnormal joint morphology", + "transudate", + "increased number of ectoderm-derived structure in the cerebrospinal fluid", + "multi cell part structure", + "vein", + "limb long bone morphology phenotype", + "bodily fluid", + "multi-tissue structure", + "facial skeleton morphology phenotype", + "limb long bone phenotype", + "All", + "Abnormal bone structure", + "naris phenotype", + "lens of camera-type eye morphology phenotype", + "nervous system phenotype", + "postcranial axial skeletal system", + "Clubbing of toes", + "arterial system", + "bone of pelvic complex morphology phenotype", + "kidney morphology phenotype", + "dorsum", + "nervous system development", + "tube formation phenotype", + "peripheral nervous system phenotype", + "tissue", + "cell differentiation", + "forelimb zeugopod bone morphology phenotype", + "brain ventricle", + "future nervous system", + "regional part of nervous system phenotype", + "Reduced bone mineral density", + "circulatory system", + "Spina bifida", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "appendicular skeleton", + "spinal cord", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "manual digit 1 phalanx", + "orifice phenotype", + "neocortex morphology phenotype", "gamete", "upper jaw region", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", + "palpebral fissure phenotype", "Upslanted palpebral fissure", "manual digit plus metapodial segment", "Abnormal bone ossification", - "Abnormal facial skeleton morphology", - "multi organ part structure", - "increased length of the anatomical line between pupils", - "Abnormal ocular adnexa morphology", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", "Abnormal eyelid morphology", + "palpebral fissure", "female reproductive organ", "ocular adnexa", - "palpebral fissure", - "abnormal lens of camera-type eye morphology", + "opaque lens of camera-type eye", + "blood cell phenotype", + "decreased number of leukocyte", + "lens of camera-type eye phenotype", + "Abnormality of the gastrointestinal tract", + "transparent eye structure phenotype", "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "opaque anatomical entity", - "clavate digit", - "shape eyelid", "Atrial septal defect", "drooping anatomical entity", + "eyelid phenotype", + "large intestine", "Ptosis", "Abnormal cornea morphology", "gland", - "myeloid cell homeostasis", - "glans penis", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", - "olfactory organ", + "clavate digit", + "decreased size of the anatomical structure", + "shape eyelid", + "decreased qualitatively sensory perception", + "incomplete closing of the multicellular anatomical structure", + "Hydrocephalus", + "telencephalon morphology phenotype", + "hindlimb morphology phenotype", + "anatomical projection", + "number of hematopoietic cell phenotype", + "Eumetazoa", + "phalanx morphology phenotype", + "Eukaryota", + "Metazoa", + "Abnormal hand morphology", + "forebrain morphology phenotype", + "root", + "aplasia or hypoplasia of telencephalon", + "Abnormality of the male genitalia", + "increased size of the organ part", + "cellular organisms", + "size of skull phenotype", + "increased length of the multicellular anatomical structure", + "Bicornuate uterus", + "regional part of brain phenotype", + "limb long bone", + "aplasia or hypoplasia of anatomical entity", + "systemic artery morphology phenotype", + "decreased biological_process", + "size of anatomical entity phenotype", + "female reproductive system morphology phenotype", + "telencephalon", "cranial skeletal system", "nose", + "decreased size of the endochondral element", "endocrine gland", - "sperm", - "internal naris", - "Neoplasm by anatomical site", - "olfactory system", - "Abnormality of the nervous system", - "pedal digit digitopodial skeleton", - "pelvic region of trunk", - "bony vertebral centrum", - "abnormal olfactory system morphology", - "abnormal nose", - "Abnormal male urethral meatus morphology", - "renal system", - "male urethra", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "abnormal urethra", - "excretory system", - "posterior nasal aperture atresia", - "Hypospadias", - "epicanthal fold", - "hindlimb long bone", - "abnormal lower urinary tract", - "segment of pes", - "voluntary movement behavior", - "Renal hypoplasia/aplasia", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", - "thoracic segment organ", - "urethra", - "gray matter of telencephalon", - "urethral meatus", - "Abnormality of prenatal development or birth", - "nervous system", - "abnormal face", - "Displacement of the urethral meatus", - "abnormal spermatogenesis", - "Abnormal shape of the palpebral fissure", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "root", - "regional part of nervous system", - "Abnormal midface morphology", - "Decreased head circumference", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "Abnormal pulmonary valve morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anterior chamber of eyeball morphology", - "telencephalon", - "Abnormal vascular morphology", - "Abnormality of skull size", - "Eukaryota", - "Deviation of the 5th finger", - "regional part of brain", - "Visual impairment", - "ulna", - "abdomen", - "deviation of manual digit towards the middle", - "Eumetazoa", "tube closure", + "ocular adnexa phenotype", "Aplasia/Hypoplasia of the cerebrum", + "autonomic nervous system phenotype", "Abnormality of the abdominal organs", + "vertebral column morphology phenotype", "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", - "abnormality of renal system physiology", - "abnormal esophagus morphology", - "abnormal size of anatomical entity", - "digit 1 plus metapodial segment", - "synovial joint", - "Abnormality of the anus", - "abnormal immune system", - "pedal digitopodium region", - "abnormally decreased number of cell", - "Functional abnormality of the inner ear", - "pedal digit", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "axial skeleton plus cranial skeleton", - "Abnormal leukocyte morphology", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "Leukopenia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal kidney", - "abnormal number of anatomical enitites of type leukocyte", - "abnormally decreased number of leukocyte in the blood", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "haemolymphatic fluid", - "abnormal hematopoietic system", - "delayed growth", - "abnormal immune system morphology", - "Hematological neoplasm", - "Reduced bone mineral density", - "Myelodysplasia", - "Abnormality of vision", - "Non-obstructive azoospermia", - "increased size of the anatomical entity in independent continuant", - "central nervous system gray matter layer", - "chamber of eyeball", - "pedal digit bone", - "cardiac atrium", - "Abnormality of the integument", - "abnormal size of brain ventricle", + "Deviation of the 5th finger", + "regional part of brain", + "regional part of nervous system", + "interventricular septum", + "increased length of the anatomical line", + "ganglion of peripheral nervous system morphology phenotype", + "Abnormal midface morphology", + "Abnormal skull morphology", + "skull morphology phenotype", + "oral cavity", + "Abnormality of the ocular adnexa", + "Opisthokonta", + "testis", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Abnormality of the testis size", + "gonad", + "palatine uvula morphology phenotype", + "Decreased anatomical entity mass density", + "embryo", + "Absent testis", + "integument phenotype", + "vision/eye phenotype", + "secondary palate morphology phenotype", + "decreased length of forelimb bone", + "long bone phenotype", + "Abnormality of the outer ear", + "number of myeloid cell phenotype", + "absent germ cell", + "ear morphology phenotype", + "bone element phenotype", + "male reproductive system phenotype", + "vestibulo-auditory system", + "anterior uvea", + "Abnormality of blood and blood-forming tissues", + "external ear phenotype", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "increased size of the non-material anatomical boundary", + "incomplete closing of the organ", + "Abnormal pinna morphology", + "Abnormal ear morphology", + "ear", + "artery morphology phenotype", + "developmental process involved in reproduction phenotype", + "male reproductive organ physiology phenotype", + "internal male genitalia", + "anatomical entity morphology in the brain phenotype", + "incomplete closing of the ectoderm-derived structure", + "eyeball of camera-type eye phenotype", + "increased size of the anatomical structure", + "multi organ part structure phenotype", + "increased size of the ventricle of nervous system", + "epicanthal fold", + "hindlimb long bone", + "decreased length of multicellular anatomical structure", + "abdomen element phenotype", + "increased size of the organ component layer", + "Abnormal nasal morphology", + "internal male genitalia physiology phenotype", + "duodenum morphology phenotype", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "paralysed cranial nerve", + "increased size of the ectoderm-derived structure", + "abdomen element physiology phenotype", + "increased length of the zone of organ", + "absent anatomical structure", + "trunk", + "manual digit 5 plus metapodial segment", + "female reproductive system phenotype", "zone of organ", + "skull phenotype", "increased size of the brain ventricle", - "liver", - "abnormal endocrine system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", + "increased size of the multicellular anatomical structure", + "visual perception phenotype", + "craniocervical region", + "endocrine system phenotype", + "structure with developmental contribution from neural crest, asymmetrically curved phenotype", + "digestive system morphology phenotype", + "exocrine gland phenotype", "Decreased fertility", - "Abnormality of the endocrine system", - "forelimb", - "skeleton of pelvic complex", + "Abnormality of the genitourinary system", + "exocrine system", + "decreased length of forelimb endochondral element", + "intromittent organ", + "respiratory system morphology phenotype", + "gland phenotype", + "Abnormality of the liver", + "fused anatomical entity and manual digit", + "incomplete closing of the roof of mouth", + "liver", + "abdominal segment element phenotype", "abdominal segment of trunk", - "Conotruncal defect", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "trunk region element phenotype", + "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "Abnormality of the liver", - "behavior", - "abdomen element", - "glandular system", - "abnormal hypothalamus-pituitary axis", - "non-material anatomical boundary", - "abnormally fused pedal digit and anatomical entity", - "abnormal location of anatomical entity", - "Renal insufficiency", - "late embryo", - "Cardiomyopathy", - "flat bone", - "increased anatomical entity length in independent continuant", + "gonad phenotype", + "internal ear phenotype", + "liver phenotype", + "decreased functionality of the mesoderm-derived structure", + "gamete generation phenotype", + "subdivision of skeletal system", + "hepatobiliary system", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "behavior process", + "cardiovascular system morphology phenotype", + "anterior chamber of eyeball", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "material anatomical entity, curved phenotype", + "endocrine gland phenotype", + "increased size of the right cardiac chamber", + "hypothalamus-pituitary axis phenotype", + "posterior nasal aperture phenotype", + "hypothalamus-pituitary axis", + "Abnormal reflex", + "hindlimb joint", + "anatomical line phenotype", + "penis", + "increased size of the anatomical line", + "tube phenotype", "Hypertelorism", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", - "immaterial anatomical entity", - "abnormal anatomical entity, curved", + "increased length of the anatomical entity", "anatomical line", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "Oligohydramnios", - "amniotic fluid", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "duodenum", + "immaterial anatomical entity phenotype", + "non-material anatomical boundary phenotype", + "increased length of the immaterial anatomical entity", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "intestine", + "ectoderm-derived structure phenotype", + "immaterial anatomical entity", + "anatomical entity length phenotype", + "decreased qualitatively multicellular organism development", + "digit", + "location of eyeball of camera-type eye phenotype", + "decreased size of the sense organ", + "vessel", + "spermatogenesis phenotype", + "anatomical entity atresia", + "Abnormal spermatogenesis", + "absent material anatomical entity in the multicellular organism", + "morphogenesis of embryonic epithelium", + "haploid cell", + "germ line cell", + "Cafe-au-lait spot", + "gamete phenotype", + "absent material anatomical entity", + "spermatogenesis", + "internal naris", + "sperm", + "erythroid lineage cell morphology phenotype", + "limb segment phenotype", + "number of cell phenotype", + "decreased qualitatively developmental process", + "reproductive process phenotype", + "male gamete", + "prepuce of penis morphology phenotype", + "absent gamete", + "decreased sensory perception of mechanical stimulus", + "iris", + "integumental system", + "semen", + "Aplasia/Hypoplasia affecting the uvea", + "decreased gamete generation", + "absent anatomical entity in the semen", + "subdivision of skeleton phenotype", + "male reproductive system physiology phenotype", + "conceptus", + "decreased multicellular organismal reproductive process", + "Abnormal cellular phenotype", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "internal genitalia", + "skeleton of pes", + "pes morphology phenotype", + "organ part morphology in the heart phenotype", + "reproduction", + "closing of the anatomical conduit", + "developmental process rate phenotype", + "epithelium", + "autopodial skeleton", + "outflow tract of ventricle", + "increased size of the brain ventricle/choroid plexus", + "Abnormality of the skin", + "biological_process rate phenotype", + "Abnormality of the palpebral fissures", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "oxygen accumulating cell", + "manual digit phenotype", + "multicellular organismal reproductive process phenotype", + "Abnormality of the nose", + "developmental process involved in reproduction", + "sexual reproduction", + "male gamete generation", + "fused anatomical entity and digit", + "hematopoietic system phenotype", + "small intestine morphology phenotype", + "small intestine", "cavitated compound organ", "Abnormal duodenum morphology", - "abnormal hindlimb morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "small intestine phenotype", + "Abnormal foot morphology", + "Duodenal stenosis", + "testis phenotype", + "Abnormality of movement", + "intestine morphology phenotype", + "subdivision of tube phenotype", + "increased length of the skin of head", + "Azoospermia", + "Abnormal small intestine morphology", "clavate anatomical entity", "Hydroureter", + "membrane bone phenotype", "Abnormal uterus morphology", + "myocardium phenotype", "Abnormal oral morphology", - "shape forehead", - "posterior region of body", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal digit", - "skeleton of pedal digitopodium", - "skeleton of pedal acropodium", - "vertebral centrum element", - "pelvic appendage skeleton", - "hindlimb endochondral element", - "skeleton of pes", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", - "Duodenal stenosis", - "Abnormal foot morphology", - "Hypermelanotic macule", + "Choanal atresia", + "acropodial skeleton", + "autopod region morphology phenotype", + "continuant", + "hindlimb", + "Functional abnormality of the inner ear", + "pedal digit", "leg", - "abnormally decreased number of anatomical entity in the blood", + "neoplasm phenotype", "phalanx of pes", - "abnormal long bone morphology", + "cardiac valve morphology phenotype", + "orifice atresia", "digitopodium bone", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal iris morphology", "phalanx", - "abnormal phalanx of pes morphology", - "3-D shape anatomical entity in independent continuant", - "abnormal digit morphology", - "Choanal atresia", - "acropodial skeleton", - "digit", - "abnormal phalanx morphology", - "pes", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "Abnormal digit morphology", - "phalanx endochondral element", - "abnormal autopod region morphology", "Abnormality of the lower limb", - "individual digit of digitopodial skeleton", + "jaw skeleton", + "exocrine gland", + "hindlimb bone", + "phalanx endochondral element", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "pes", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "localised reproductive structure", "digitopodium region", - "genitourinary system", - "Limb undergrowth", - "abnormal kidney morphology", - "skull", - "femur", + "fused manual digit and manual digit", + "pedal digitopodium region", + "material anatomical entity, asymmetrically curved phenotype", + "lower limb segment", + "increased length of the anatomical structure", + "pedal digitopodium bone", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "digit morphology phenotype", + "pelvic complex", + "duodenum", + "formed organ subunit", + "long bone morphology phenotype", + "incomplete closing of the mesoderm-derived structure", + "decreased size of the forelimb zeugopod bone", + "joint of girdle morphology phenotype", + "Proptosis", + "hindlimb stylopod", + "lower limb segment phenotype", + "pelvic girdle skeleton", + "pedal digit morphology phenotype", + "posterior region of body", + "Abnormal lower limb bone morphology", + "incomplete closing of the arch of centrum of vertebra", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "radius endochondral element", + "skin of face morphology phenotype", + "Abnormal renal morphology", + "subdivision of organism along appendicular axis phenotype", + "Abnormal cardiovascular system morphology", + "Abnormal ocular adnexa morphology", + "cavitated compound organ phenotype", + "Abnormal localization of kidney", "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", + "Abnormal anus morphology", + "compound organ phenotype", + "decreased functionality of the reproductive organ", + "Abnormality of the female genitalia", + "cardiac ventricle morphology phenotype", + "renal system morphology phenotype", + "male reproductive system morphology phenotype", + "orbital region phenotype", "Abnormality of the kidney", - "Decreased fertility in males", - "prominent anatomical entity", - "abnormal roof of mouth morphology", - "anatomical projection", - "abnormal midface morphology", + "neural tube closure phenotype", + "kidney", "mouth", "Aplasia/Hypoplasia of the iris", + "midface morphology phenotype", + "oral cavity morphology phenotype", + "morphological feature phenotype", + "myocardium morphology phenotype", + "incomplete closing of the anatomical structure", "Abnormal oral cavity morphology", + "roof of mouth morphology phenotype", + "anatomical cavity", "Abnormal aortic valve morphology", + "increased number of multicellular anatomical structure in the cerebrospinal fluid", "midface", - "abnormal soft palate morphology", - "palatine uvula", "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", "soft palate", - "abnormal oral cavity morphology", - "abnormal mouth", + "soft palate morphology phenotype", + "Abnormal soft palate morphology", "primary circulatory organ", + "ectoderm-derived structure, curved phenotype", "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", - "Abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "anatomical cavity", - "absent sperm", - "abnormally formed anatomical entity", - "nervous system cell part layer", - "abnormal pes morphology", - "aplasia or hypoplasia of uvea", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal anterior uvea morphology", - "abnormal artery morphology in the independent continuant", - "abnormal penis morphology", - "abnormal cranium morphology", - "Abnormality iris morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "Abnormal uvea morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", "malformed anatomical entity", - "circulatory organ", - "uvea", + "subdivision of organism along main body axis", + "formed anterior chamber of eyeball", "Abnormal hip joint morphology", "aplasia or hypoplasia of eyeball of camera-type eye", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", + "fused digit and digit", + "decreased length of organ", + "formed multicellular anatomical structure", + "iris phenotype", + "decreased qualitatively multicellular organismal reproductive process", + "formed anatomical structure", + "formed material anatomical entity", + "decreased length of mesoderm-derived structure", + "systemic arterial system", + "Abnormal cerebral morphology", + "palatine uvula phenotype", + "Joint dislocation", + "Abnormal uvea morphology", + "Abnormality iris morphology", + "circulatory organ", + "uvea", + "anatomical collection", + "Macule", "increased biological_process in skin of body", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "integument", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", - "abnormal cardiac valve morphology", + "posterior nasal aperture atresia", + "cerebral hemisphere morphology phenotype", + "Hypospadias", + "fused manual digit and anatomical entity", + "decreased size of the multicellular anatomical structure", + "musculature", "Localized skin lesion", "Abnormal 5th finger morphology", "Abnormal thumb morphology", "aplasia or hypoplasia of ulna", - "increased pigmentation in independent continuant", - "manual digit bone", - "abnormal biological_process in independent continuant", - "non-functional kidney", - "decreased size of the anatomical entity", - "Abnormal cerebral cortex morphology", - "forebrain", - "increased qualitatively biological_process", - "abnormal cell morphology", - "anatomical collection", - "Macule", - "abnormal cornea, curved", - "pigmentation", - "eyeball of camera-type eye", - "abnormal upper urinary tract", - "abnormal skin of body", - "Abnormality of skin morphology", - "abnormality of kidney physiology", - "changed biological_process rate in independent continuant", - "abnormal asymmetry of face", - "abnormal integument", - "abnormal manus", - "abnormal manus morphology", - "Aplasia/hypoplasia involving bones of the hand", + "Abnormal size of the palpebral fissures", + "autopod region phenotype", + "Finger clinodactyly", + "anatomical entity morphology in the manus phenotype", + "manual digit", + "skeleton phenotype", + "manus morphology phenotype", + "number of anatomical enitites of type anatomical structure phenotype", "skeleton of manus", - "Aplasia/Hypoplasia of fingers", - "abnormal cardiac valve morphology in the heart", + "segment of manus", + "vascular system", + "aplasia or hypoplasia of skeleton", "Abnormality of the hand", + "bone of hip region", + "external ear morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "Aplasia/hypoplasia involving bones of the hand", + "amniotic fluid", + "anatomical entity morphology in the pectoral complex phenotype", + "neural crest-derived structure phenotype", + "manual digit morphology in the manus phenotype", "decreased pigmentation in skin of body", + "incomplete closing of the anatomical conduit", "Abnormal finger morphology", - "vascular system", - "abnormal anterior segment of eyeball morphology", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", "Aplasia/hypoplasia involving the skeleton", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", - "male reproductive system", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "appendage", - "abnormally fused digit and digit", - "Clinodactyly of the 5th finger", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", + "fused digit and anatomical entity", + "anatomical entity mass density phenotype", + "pelvic girdle bone/zone", + "eye movement phenotype", + "respiratory system phenotype", + "Abnormality of bone mineral density", + "brain ventricle/choroid plexus phenotype", + "bone element mass density phenotype", "biogenic amine secreting cell", "ossification", - "Abnormality of bone mineral density", - "cardiac chamber", - "abnormal spatial pattern of anatomical entity", - "abnormal late embryo", - "Deviation of the hand or of fingers of the hand", "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of digit towards the middle", + "digit 1 or 5", + "cranial nerve related reflex", + "manual digit 5 morphology phenotype", + "manual digit 5", + "spatial pattern of anatomical entity phenotype", + "digit 1 or 5 phenotype", + "digit 5 plus metapodial segment", + "digestive system", + "decreased length of endochondral bone", + "Deviation of the hand or of fingers of the hand", "appendicular skeletal system", - "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", "deviation of manual digit", - "trunk", - "manual digit 5 plus metapodial segment", - "digit 1 or 5", - "manual digit 5", - "hypertrophic multicellular anatomical structure", - "dermal skeletal element", - "decreased length of anatomical entity in independent continuant", + "decreased functionality of the organ part", + "upper limb segment phenotype", + "decreased length of bone element", + "ulna phenotype", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "organ phenotype", + "Forearm undergrowth", + "genitourinary system", + "Limb undergrowth", + "decreased size of the forelimb endochondral element", + "cardiac ventricle morphology in the heart phenotype", + "decreased size of the anatomical entity", + "Upper limb undergrowth", + "decreased length of material anatomical entity", + "decreased length of skeletal element", + "decreased size of the long bone", + "decreased size of the material anatomical entity", + "decreased size of the endochondral bone", + "Hematological neoplasm", + "decreased size of the organ", + "ulna hypoplasia", + "head bone phenotype", + "decreased size of the bone of pectoral complex", + "Short long bone", + "decreased length of bone of free limb or fin", + "decreased size of the bone of free limb or fin", + "increased response to external stimulus", + "forelimb zeugopod bone hypoplasia", + "forelimb long bone phenotype", "paired limb/fin skeleton", + "respiratory system physiology phenotype", "Abnormal nervous system physiology", "Hypoplasia of the ulna", - "Upper limb undergrowth", - "forelimb zeugopod bone hypoplasia", - "abnormal incomplete closing of the interatrial septum", - "intestine", - "Decreased multicellular organism mass", - "Aplasia/Hypoplasia of the ulna", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", + "decreased size of the bone element", "Short forearm", + "decreased length of limb endochondral element", + "decreased size of the anatomical entity in the pectoral complex", + "decreased size of the bone of appendage girdle complex", + "increased length of the zone of skin", "Aplasia/hypoplasia involving forearm bones", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "increased height of the secondary palate", - "Tetralogy of Fallot", - "Forearm undergrowth", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", + "Cardiomyopathy", + "flat bone", + "pelvic region element", + "Hyperpigmentation of the skin", + "limb joint", + "anatomical conduit atresia", + "joint of girdle", + "manus phenotype", + "hindlimb joint phenotype", + "zone of bone organ", + "skeletal joint", + "articulation phenotype", "Micrognathia", "anatomical entity dislocation", - "Abnormal localization of kidney", - "abnormal skeletal joint morphology", - "articulation", - "cerebral hemisphere gray matter", - "skin of body", - "abnormal pelvic girdle bone/zone morphology", "skeletal joint dislocation", - "peripheral nervous system", - "abnormal hip joint morphology", - "articular system", - "abnormal embryonic tissue morphology", - "zone of bone organ", - "Abnormal hip bone morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", - "stylopod", - "upper leg bone", - "abnormal femur morphology", - "abnormal hindlimb stylopod morphology", - "dentary", - "femur endochondral element", - "Abnormality of femur morphology", - "Abnormality of enteric ganglion morphology", - "abnormal intestine morphology", - "abnormal face morphology", - "axial skeletal system", - "autonomic ganglion", - "enteric ganglion", - "parasympathetic ganglion", - "enteric nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "autonomic nervous system", - "Unusual infection", - "abnormal enteric ganglion morphology", - "neurocranium bone", - "parasympathetic nervous system", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal autonomic nervous system morphology", ], "has_phenotype_count": 106, "highlight": None, "score": None, }, + { + "id": "MONDO:1011502", + "category": "biolink:Disease", + "name": "Fanconi syndrome, cattle", + "full_name": None, + "deprecated": None, + "description": "Fanconi syndrome that occurs in cattle.", + "xref": ["OMIA:000366-9913"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": None, + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, + "has_phenotype_count": 0, + "highlight": None, + "score": None, + }, { "id": "MONDO:0001083", "category": "biolink:Disease", @@ -3432,10 +4069,12 @@ def search(): "xref": [ "DOID:1062", "GARD:9120", + "MEDGEN:4653", "MESH:D005198", "NANDO:2100027", "NANDO:2200187", "NCIT:C3034", + "SCTID:236466005", "SCTID:40488004", "UMLS:C0015624", ], @@ -3460,10 +4099,10 @@ def search(): "uri": None, "iri": None, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": 0, "highlight": None, "score": None, @@ -3475,7 +4114,14 @@ def search(): "full_name": None, "deprecated": None, "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", - "xref": ["DOID:0090066", "MESH:C536855", "OMIM:227850", "SCTID:236469003", "UMLS:C0151638"], + "xref": [ + "DOID:0090066", + "MEDGEN:56237", + "MESH:C536855", + "OMIM:227850", + "SCTID:236469003", + "UMLS:C0151638", + ], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -3484,446 +4130,478 @@ def search(): "uri": None, "iri": None, "namespace": "MONDO", - "has_phenotype": ["HP:0002754", "HP:0002783", "HP:0005939", "HP:0001876", "HP:0007606"], + "has_phenotype": ["HP:0005939", "HP:0002754", "HP:0001876", "HP:0002783", "HP:0007606"], "has_phenotype_label": [ - "Osteomyelitis", - "Recurrent lower respiratory tract infections", "Multiple bilateral pneumothoraces", + "Osteomyelitis", "Pancytopenia", + "Recurrent lower respiratory tract infections", "Multiple cutaneous malignancies", ], "has_phenotype_closure": [ - "HP:0002664", + "UPHENO:3000003", + "HP:0001574", "UBERON:0004121", - "UPHENO:0002635", + "HP:0011793", + "HP:0007606", "UBERON:0002097", "UBERON:0002199", "UBERON:0002416", - "HP:0001574", - "HP:0007606", - "HP:0011793", - "UBERON:0000479", - "UPHENO:0084987", + "UPHENO:0002635", + "HP:0002664", + "HP:0032101", + "HP:0011947", + "HP:0002783", + "HP:0002719", "UPHENO:0011498", - "HP:0025354", - "UPHENO:0085118", "UPHENO:0086172", - "UPHENO:0085144", - "HP:0001876", - "UBERON:0002371", - "UPHENO:0085302", - "HP:0032251", - "CL:0002242", - "CL:0001035", - "UBERON:0002193", - "CL:0000225", - "HP:0011873", - "CL:0000151", - "CL:0000255", - "UPHENO:0077426", - "UPHENO:0086173", - "HP:0011893", - "HP:0020047", - "UPHENO:0085195", - "HP:0001872", - "UPHENO:0063722", - "CL:0000219", - "UPHENO:0086005", - "UPHENO:0084928", - "UPHENO:0085068", - "UPHENO:0006910", - "UPHENO:0086049", - "UPHENO:0085984", - "UPHENO:0076675", - "CL:0000232", - "CL:0000458", - "CL:0000763", + "UPHENO:0080010", "CL:0000738", - "UPHENO:0086045", - "HP:0005561", - "UPHENO:0087355", + "UBERON:0000479", "UPHENO:0087123", "HP:0011842", + "UPHENO:0063794", + "HP:0011873", + "CL:0000151", + "UPHENO:0077418", "CL:0002092", - "HP:0012145", + "CL:0000232", + "UPHENO:0076675", + "HP:0005561", "CL:0000233", "UPHENO:0004459", + "UPHENO:0063787", + "HP:0001876", + "CL:0000763", + "CL:0000458", + "UBERON:0002371", + "UBERON:0002193", + "CL:0001035", + "CL:0000255", + "CL:0002242", + "CL:0000219", + "CL:0000225", + "UPHENO:0002554", + "UPHENO:0085302", "HP:0011875", "UPHENO:0088166", "UPHENO:0076703", "CL:0000457", "UPHENO:0085371", - "HP:0002107", - "NCBITaxon:6072", + "UPHENO:0077391", + "HP:0032251", + "HP:0012145", + "UPHENO:0086173", + "HP:0025354", + "UPHENO:0002548", + "HP:0011893", + "HP:0020047", + "UPHENO:0011536", + "HP:0001872", + "UPHENO:0063722", + "UPHENO:0011531", + "UPHENO:0074682", + "UBERON:0001015", + "UBERON:0000383", + "UBERON:0003103", + "UPHENO:0076692", + "CL:0000081", + "UBERON:0009569", + "UBERON:0004119", + "BFO:0000001", "HP:0008069", "UBERON:0001474", "HP:0005939", - "BFO:0000040", - "UPHENO:0074624", - "UBERON:0015212", - "NCBITaxon:33154", - "UBERON:0010000", - "HP:0010978", - "HP:0002754", - "UPHENO:0002964", - "HP:0000951", - "HP:0012252", - "UPHENO:0083263", - "UBERON:0000468", - "UPHENO:0001005", - "BFO:0000020", - "UBERON:0002204", - "UPHENO:0002536", - "UPHENO:0002448", - "HP:0000118", - "UBERON:0001062", - "UPHENO:0080377", - "UBERON:0000042", - "UPHENO:0080693", - "UPHENO:0074687", - "UBERON:0004120", - "UPHENO:0080662", - "UPHENO:0049587", - "UPHENO:0081440", - "UBERON:0004765", - "UBERON:0034923", - "UBERON:0000481", - "UPHENO:0080221", - "UPHENO:0074685", - "UPHENO:0001002", - "CL:0000000", - "UPHENO:0054970", - "HP:0002719", - "HP:0011843", - "HP:0002088", - "BFO:0000002", - "PATO:0000001", - "UBERON:0000915", - "UBERON:0000061", - "HP:0001881", - "UPHENO:0085344", - "HP:0002205", - "UBERON:0000065", - "UPHENO:0003811", - "UPHENO:0082682", - "BFO:0000004", - "UBERON:0001005", - "UPHENO:0001001", - "UPHENO:0086908", - "UPHENO:0002263", - "UPHENO:0001003", - "UBERON:0002390", - "GO:0006954", - "GO:0006952", - "HP:0002715", - "UBERON:0000025", - "CL:0000329", - "HP:0012647", - "UPHENO:0081590", - "UPHENO:0002332", - "HP:0033127", "BFO:0000015", "CL:0000988", "UBERON:0000465", - "UBERON:0000064", - "BFO:0000001", - "UBERON:0015203", - "UBERON:0005906", - "UPHENO:0059829", - "UBERON:0002405", - "NCBITaxon:2759", + "UPHENO:0002963", + "BFO:0000020", + "UBERON:0010000", + "HP:0002205", + "UPHENO:0085344", + "HP:0001881", + "UBERON:0000065", + "UBERON:0000061", + "OBI:0100026", + "UBERON:0000171", + "UBERON:0000481", + "UBERON:0000468", + "UPHENO:0083263", "CL:0000764", - "UPHENO:0074572", "NCBITaxon:1", - "UBERON:0001434", - "UBERON:0000467", - "UBERON:0002100", - "UBERON:0011216", - "UPHENO:0082875", - "UPHENO:0002948", - "UPHENO:0049588", - "UBERON:0002048", - "UPHENO:0076684", - "UBERON:0001558", - "HP:0032101", - "HP:0001871", - "UPHENO:0049586", - "UPHENO:0075696", - "HP:0002103", - "UBERON:0000171", - "UBERON:0005177", - "UPHENO:0085070", - "UPHENO:0076692", - "UBERON:0001004", - "UBERON:0013522", - "BFO:0000003", - "PR:000050567", + "UPHENO:0002530", + "UBERON:0005906", + "UBERON:0015203", + "UBERON:0011676", + "UBERON:0000072", + "UPHENO:0002267", "UBERON:0013701", - "CL:0000081", - "UBERON:0009569", - "HP:0002086", - "HP:0002783", - "UBERON:0004119", - "UBERON:0000170", - "HP:0001873", - "UBERON:0013702", - "UPHENO:0019970", + "GO:0006952", + "UPHENO:0002525", "GO:0008150", "HP:0002795", - "UPHENO:0004536", "UBERON:0005181", - "UPHENO:0085189", "HP:0025461", "NCBITaxon:33208", "UBERON:0000077", - "UBERON:0002075", - "UPHENO:0087339", - "UPHENO:0087433", - "UPHENO:0082723", - "UPHENO:0015280", - "UPHENO:0020748", - "UBERON:0000475", - "HP:0011947", - "OBI:0100026", - "UPHENO:0020584", - "UBERON:0011676", - "UBERON:0000072", + "NCBITaxon:33154", + "UBERON:0015212", + "BFO:0000040", + "UPHENO:0074624", + "UBERON:0000170", + "UBERON:0034925", + "UBERON:0000064", + "UBERON:0001062", + "UBERON:0000042", + "UPHENO:0077373", + "UPHENO:0080377", + "HP:0001873", + "UBERON:0013702", + "HP:0000118", "HP:0000001", "UBERON:0004111", "UBERON:0005178", - "UBERON:0034925", - "UBERON:0003103", - "UPHENO:0049584", - "GO:0050896", - "HP:0012649", - "UBERON:0000060", + "UPHENO:0081581", "UBERON:0000062", + "UPHENO:0002269", + "UPHENO:0002536", + "UPHENO:0002448", + "HP:0033127", + "UPHENO:0055024", + "HP:0002086", + "UPHENO:0002526", + "UPHENO:0004536", + "BFO:0000002", + "UBERON:0005177", + "HP:0002088", + "UPHENO:0002816", + "HP:0011843", "UBERON:0009778", + "UBERON:0002075", + "NCBITaxon:6072", + "UPHENO:0001003", + "UPHENO:0074681", + "BFO:0000004", + "UBERON:0001005", + "UBERON:0002048", + "UPHENO:0077348", + "UPHENO:0076684", + "UBERON:0001558", + "UPHENO:0087433", + "UBERON:0001004", + "HP:0000951", + "HP:0012252", + "NCBITaxon:2759", + "UBERON:0002405", + "UPHENO:0002964", + "HP:0002754", + "HP:0010978", + "UBERON:0000915", + "PATO:0000001", + "CL:0000000", + "UPHENO:0054970", + "UBERON:0000475", + "UBERON:0013522", + "HP:0002107", + "UPHENO:0082875", "HP:0010987", - "HP:0000924", "UBERON:0000977", - "GO:0006950", + "HP:0000924", + "UBERON:0000025", + "HP:0002715", + "UBERON:0004765", + "UBERON:0034923", + "UPHENO:0081440", + "UPHENO:0002976", + "UPHENO:0074751", + "UBERON:0004120", + "UPHENO:0080662", + "UPHENO:0002385", + "UPHENO:0049587", + "UPHENO:0002948", + "UPHENO:0049588", + "UBERON:0000467", + "UBERON:0002100", + "UBERON:0011216", + "UPHENO:0005092", + "UPHENO:0080693", + "UPHENO:0074687", + "UPHENO:0001002", + "UPHENO:0049585", + "CL:0000329", + "UPHENO:0081590", + "HP:0012647", + "UPHENO:0003811", + "UPHENO:0002568", + "PR:000050567", + "BFO:0000003", "NCBITaxon:131567", + "GO:0006950", + "UBERON:0000060", + "HP:0012649", + "GO:0050896", + "UPHENO:0049584", + "HP:0001871", + "HP:0002103", + "UPHENO:0049586", + "UPHENO:0001001", + "UPHENO:0002263", + "UBERON:0001434", + "UBERON:0002204", + "UBERON:0002390", + "GO:0006954", ], "has_phenotype_closure_label": [ - "Abnormality of the skin", - "Neoplasm by anatomical site", - "Neoplasm", - "integumental system", "Multiple cutaneous malignancies", "Neoplasm of the skin", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "bone marrow", - "cell", + "integument phenotype", + "Neoplasm", + "skin of body phenotype", + "Neoplasm by anatomical site", + "Respiratory tract infection", + "Recurrent lower respiratory tract infections", + "Recurrent infections", + "Unusual infection", "Abnormal immune system morphology", + "Abnormal platelet morphology", + "decreased number of hematopoietic cell", + "decreased number of cell", + "leukocyte", "Pancytopenia", - "serotonin secreting cell", - "abnormal myeloid cell morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormally decreased number of platelet", - "abnormal number of anatomical enitites of type platelet", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal platelet", "Abnormality of blood and blood-forming tissues", - "bone element", - "abnormal bone marrow cell morphology", - "abnormal leukocyte morphology", - "nucleate cell", - "oxygen accumulating cell", - "hemolymphoid system", - "hematopoietic cell", - "Abnormal leukocyte count", - "secretory cell", - "abnormal hematopoietic system morphology", + "Abnormal bone marrow cell morphology", + "number of platelet phenotype", + "number of myeloid cell phenotype", "Abnormal cellular phenotype", + "Abnormal myeloid cell morphology", + "secretory cell", + "Abnormal leukocyte count", + "cell phenotype", + "skeletal element", + "blood cell phenotype", + "cell", + "decreased number of anatomical structure", + "integumental system", + "immune system morphology phenotype", + "Abnormal skeletal morphology", + "number of hematopoietic cell phenotype", + "number of anatomical enitites of type material anatomical entity phenotype", "bone marrow cell", - "bone cell", - "Abnormality of bone marrow cell morphology", - "abnormal bone marrow cell", - "Abnormal cell morphology", - "abnormally decreased number of anatomical entity", - "platelet", "Abnormal cellular immune system morphology", "erythrocyte", - "leukocyte", - "abnormal bone marrow morphology", - "increased biological_process in bone element", - "non-connected functional system", - "increased qualitatively inflammatory response", - "subdivision of tube", - "Abnormal leukocyte morphology", - "response to stimulus", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "anatomical system", - "Abnormality of thrombocytes", - "organ", - "organism", - "abnormal platelet morphology", - "Abnormal platelet count", - "material anatomical entity", - "abnormal integument", - "abnormal biological_process", - "increased inflammatory response", - "abnormal number of anatomical enitites of type cell", - "increased inflammatory response in independent continuant", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "abnormal phenotype by ontology source", - "abnormality of musculoskeletal system physiology", - "trunk", - "phenotype", - "biogenic amine secreting cell", - "Abnormal musculoskeletal physiology", - "organ system subdivision", - "response to stress", - "ectoderm-derived structure", - "proximo-distal subdivision of respiratory tract", - "increased qualitatively biological_process", - "pleural sac", - "material entity", - "motile cell", - "independent continuant", - "Increased inflammatory response", - "quality", - "abnormal cell morphology", - "myeloid cell", - "immune system", - "root", - "Abnormal skeletal morphology", - "abnormal response to stimulus", - "Abnormal inflammatory response", - "abnormal inflammatory response", - "Thrombocytopenia", - "Abnormality of immune system physiology", - "increased qualitatively biological_process in independent continuant", - "viscus", - "occurrent", - "abnormal anatomical entity", - "entity", - "disconnected anatomical group", + "ectoderm-derived structure phenotype", + "hematopoietic system phenotype", + "platelet", + "Abnormal cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", + "serotonin secreting cell", + "hematopoietic cell", + "number of cell phenotype", + "bone marrow", + "decreased number of material anatomical entity", + "hemolymphoid system", + "bone cell", "integument", "eukaryotic cell", - "increased qualitatively inflammatory response in independent continuant", - "inflammatory response", - "specifically dependent continuant", - "biological_process", + "nucleate cell", + "anucleate cell", + "increased defense response in bone element", + "Abnormality of the respiratory system", + "oxygen accumulating cell", + "material anatomical entity phenotype", + "Phenotypic abnormality", + "Abnormal respiratory system physiology", + "organism", + "Abnormality of thrombocytes", + "organ", + "anatomical system", "tissue", "continuant", - "erythroid lineage cell", - "multicellular anatomical structure", - "abnormal skeletal system", - "increased biological_process", - "abnormal immune system morphology", - "Eumetazoa", - "defense response", + "thoracic segment of trunk", + "anatomical entity morphology phenotype", "Abnormality of the integument", "protein-containing material entity", + "multicellular organism", + "anatomical entity physiology phenotype", "skin of body", "skeletal system", - "abnormal skin of body", - "musculoskeletal system", - "Abnormal pleura morphology", - "hematopoietic system", - "Abnormality of the skeletal system", - "increased qualitatively response to stimulus", - "anatomical structure", - "anatomical conduit", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "Eukaryota", - "abnormality of immune system physiology", - "Abnormal myeloid cell morphology", - "changed biological_process rate", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology", - "lateral structure", - "multicellular organism", - "anucleate cell", - "phenotype by ontology source", - "abnormal cell", - "Abnormal respiratory system physiology", - "Osteomyelitis", - "increased inflammatory response in bone element", - "abnormally decreased number of myeloid cell", - "compound organ", - "anatomical entity", - "body proper", + "Metazoa", + "trunk region element", "blood cell", "respiration organ", - "pair of lungs", - "trunk region element", - "thoracic segment organ", - "anatomical collection", - "abnormal respiratory system morphology", - "main body axis", - "abnormally decreased number of hematopoietic cell", - "serous membrane", - "abnormal biological_process in independent continuant", - "Unusual infection", - "Abnormality of the immune system", - "multi-tissue structure", - "Metazoa", - "abnormal blood cell", - "abnormal response to stress", - "subdivision of trunk", - "Abnormal respiratory system morphology", - "organ part", - "Recurrent respiratory infections", - "respiratory system", - "Multiple bilateral pneumothoraces", - "All", - "abnormal lung morphology", + "body proper", "tube", "Pneumothorax", - "Recurrent infections", - "abnormally decreased number of cell", - "abnormal immune system", - "thoracic segment of trunk", - "abnormal respiratory system", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal number of anatomical enitites of type anatomical entity", - "serous sac", - "Abnormality of the respiratory system", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Recurrent lower respiratory tract infections", - "endoderm-derived structure", - "subdivision of organism along main body axis", - "lung", - "respiratory airway", + "increased response to stress in bone element", + "mesoderm-derived structure", + "decreased number of platelet", + "phenotypic effect", + "anatomical system physiology phenotype", + "neoplasm phenotype", + "Increased inflammatory response", + "decreased number of myeloid cell", "thoracic cavity element", - "abnormal anatomical entity morphology in the independent continuant", - "organism subdivision", - "respiratory tract", - "abnormality of respiratory system physiology", + "respiratory system morphology phenotype", + "anatomical entity", + "lateral structure", + "hematopoietic system", + "Abnormality of the skeletal system", "cellular organisms", "Opisthokonta", - "Abnormal lung morphology", - "Respiratory tract infection", - "lower respiratory tract", - "anatomical wall", - "abnormality of anatomical entity physiology", - "abnormal pleura morphology", - "abnormal number of anatomical enitites of type myeloid cell", "mixed endoderm/mesoderm-derived structure", - "process", + "ectoderm-derived structure", + "proximo-distal subdivision of respiratory tract", + "entity", + "disconnected anatomical group", + "Abnormal platelet count", + "material anatomical entity", + "compound organ", + "increased inflammatory response in bone element", + "organ phenotype", + "pleura morphology phenotype", + "pleural sac", + "increased qualitatively biological_process", + "mesoderm-derived structure phenotype", + "bone element", + "anatomical entity phenotype", + "anatomical structure physiology phenotype", + "Eukaryota", + "Abnormality of the musculoskeletal system", + "serous membrane", + "multicellular organism morphology phenotype", + "respiratory system phenotype", + "material entity", + "multi-tissue structure", + "Abnormality of the immune system", + "phenotype", + "Abnormal pleura morphology", + "musculoskeletal system", + "quality", + "endoderm-derived structure", + "multicellular anatomical structure phenotype", + "defense response", + "Eumetazoa", + "material anatomical entity physiology phenotype", + "Multiple bilateral pneumothoraces", + "Recurrent respiratory infections", + "respiratory system", + "response to stress phenotype", + "subdivision of trunk", + "Abnormal respiratory system morphology", + "organ part", + "Abnormality of multiple cell lineages in the bone marrow", + "leukocyte morphology phenotype", + "serous sac", + "erythroid lineage cell", + "multicellular anatomical structure", + "taxon specific phenotype", + "anatomical collection", + "biological_process rate phenotype", + "thoracic segment organ", + "biogenic amine secreting cell", + "Abnormal musculoskeletal physiology", + "decreased number of anatomical entity", + "viscus", + "anatomical structure", + "musculoskeletal system phenotype", + "anatomical conduit", + "musculature", + "increased qualitatively response to stimulus", + "Thrombocytopenia", + "Abnormality of immune system physiology", + "trunk", + "myeloid cell", + "root", + "immune system", + "response to stress", + "organ system subdivision", + "All", + "Abnormal lung morphology", + "motile cell", + "independent continuant", + "number of anatomical enitites of type anatomical entity phenotype", + "respiratory tract", + "organism subdivision", + "main body axis", + "biological_process phenotype", + "anatomical structure phenotype", + "defense response phenotype", + "respiratory airway", + "lower respiratory tract", + "anatomical wall", + "subdivision of tube", + "non-connected functional system", + "increased qualitatively inflammatory response", + "respiratory system physiology phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "lung", + "increased inflammatory response", + "Abnormal inflammatory response", + "specifically dependent continuant", + "inflammatory response", + "increased response to stimulus in bone element", + "Osteomyelitis", + "biological_process", + "increased biological_process in bone element", + "skeletal system phenotype", + "inflammatory response phenotype", + "anatomical system phenotype", + "musculature phenotype", + "Abnormal leukocyte morphology", + "response to stimulus", + "platelet phenotype", + "increased response to stimulus", + "immune system physiology phenotype", + "occurrent", "pleura", - "mesoderm-derived structure", - "skeletal element", + "process", + "Abnormality of the skin", + "musculature of body", + "organ system subdivision phenotype", + "response to stimulus phenotype", + "increased biological_process", + "immune system phenotype", + "pair of lungs", + "musculoskeletal system physiology phenotype", ], "has_phenotype_count": 5, "highlight": None, "score": None, }, + { + "id": "MONDO:0060779", + "category": "biolink:Disease", + "name": "acquired Fanconi syndrome", + "full_name": None, + "deprecated": None, + "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "xref": ["MEDGEN:90966", "NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": ["acquired Fanconi syndrome"], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, + "has_phenotype_count": 0, + "highlight": None, + "score": None, + }, { "id": "MONDO:0060778", "category": "biolink:Disease", "name": "adult Fanconi syndrome", "full_name": None, "deprecated": None, - "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", - "xref": ["NCIT:C4377"], + "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.", + "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -3933,33 +4611,33 @@ def search(): "iri": None, "namespace": "MONDO", "has_phenotype": ["HP:0003581"], - "has_phenotype_label": ["Adult onset"], - "has_phenotype_closure": ["HP:0003674", "HP:0012823", "HP:0003581", "HP:0000001", "HP:0031797"], - "has_phenotype_closure_label": ["Clinical course", "Onset", "Clinical modifier", "Adult onset", "All"], + "has_phenotype_label": None, + "has_phenotype_closure": ["HP:0003581"], + "has_phenotype_closure_label": None, "has_phenotype_count": 1, "highlight": None, "score": None, }, { - "id": "MONDO:0060779", + "id": "MONDO:1011504", "category": "biolink:Disease", - "name": "acquired Fanconi syndrome", + "name": "Fanconi syndrome, horse", "full_name": None, "deprecated": None, - "description": "Fanconi Syndrome caused by exposure to noxious agents.", - "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], + "description": "Fanconi syndrome that occurs in horse.", + "xref": ["OMIA:000366-9796"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": ["acquired Fanconi syndrome"], + "synonym": None, "uri": None, "iri": None, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": 0, "highlight": None, "score": None, @@ -3971,7 +4649,7 @@ def search(): "full_name": None, "deprecated": None, "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.", - "xref": ["GARD:9118", "NCIT:C123229", "Orphanet:3337"], + "xref": ["GARD:9118", "MEDGEN:341765", "NCIT:C123229", "Orphanet:3337", "UMLS:C1857395"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -3981,17 +4659,14 @@ def search(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", "HP:0002749", + "HP:0000117", "HP:0003774", - "HP:0002150", - "HP:0001944", + "HP:0004918", "HP:0002206", "HP:0001943", + "HP:0002150", + "HP:0001944", "HP:0012622", "HP:0012606", "HP:0004912", @@ -4002,4423 +4677,4555 @@ def search(): "HP:0002659", "HP:0002653", "HP:0002148", + "HP:0001824", + "HP:0001324", "HP:0032943", - "HP:0004918", + "HP:0004910", "HP:0003646", "HP:0003149", "HP:0003126", "HP:0003076", "HP:0002909", "HP:0002049", + "HP:0001510", ], "has_phenotype_label": [ - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", "Osteomalacia", + "Renal phosphate wasting", "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", + "Hyperchloremic metabolic acidosis", "Pulmonary fibrosis", "Hypoglycemia", + "Hypercalciuria", + "Dehydration", "Chronic kidney disease", "Renal sodium wasting", "Hypophosphatemic rickets", "Hypouricemia", - "Decreased plasma carnitine", + "Decreased circulating carnitine concentration", "Increased urinary potassium", "Hypokalemia", "Increased susceptibility to fractures", "Bone pain", "Hypophosphatemia", + "Weight loss", + "Muscle weakness", "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", + "Bicarbonate-wasting renal tubular acidosis", "Bicarbonaturia", "Hyperuricosuria", "Low-molecular-weight proteinuria", "Glycosuria", "Generalized aminoaciduria", "Proximal renal tubular acidosis", + "Growth delay", ], "has_phenotype_closure": [ - "UPHENO:0051670", - "HP:0002909", - "CHEBI:50860", - "CHEBI:36962", - "CHEBI:25806", - "UPHENO:0081544", - "UPHENO:0001001", - "UPHENO:0051804", - "HP:0001941", - "CHEBI:35570", - "UPHENO:0068040", - "CHEBI:29103", - "UPHENO:0076286", - "UPHENO:0004459", - "GO:0098771", - "UBERON:0001005", - "HP:0032180", - "UPHENO:0076299", - "UPHENO:0052008", - "UPHENO:0087433", - "UBERON:0000475", - "HP:0012598", - "UPHENO:0034438", - "HP:0012252", - "HP:0002206", - "UBERON:0000170", - "CHEBI:27226", + "HP:0001510", + "UPHENO:0000541", + "HP:0003355", + "UPHENO:0046286", + "UPHENO:0068144", "UPHENO:0068169", - "UBERON:0013522", - "UBERON:0001004", - "HP:0004323", - "HP:0002088", - "PATO:0000001", - "GO:0033500", - "GO:0043229", - "UPHENO:0020584", - "UPHENO:0050619", - "UBERON:0002075", - "CHEBI:22563", - "GO:0065007", - "BFO:0000020", - "CHEBI:35281", - "GO:0065008", - "UPHENO:0086172", - "HP:0011280", - "UPHENO:0051704", - "UPHENO:0051640", - "UPHENO:0081546", - "UBERON:0034925", - "UBERON:0002048", - "GO:0042592", - "HP:0004912", - "UPHENO:0066781", - "GO:0050878", - "UPHENO:0051930", - "CHEBI:33521", - "CHEBI:36586", - "CHEBI:22984", - "CHEBI:26020", - "HP:0000083", - "UPHENO:0082794", - "HP:0011804", - "CHEBI:33917", - "HP:0002795", - "UBERON:0001434", - "UPHENO:0084653", - "HP:0004348", - "UBERON:0002204", - "HP:0003330", - "CHEBI:33304", - "UBERON:0013702", - "HP:0010930", - "HP:0000924", - "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0076692", - "UPHENO:0002536", - "CHEBI:23906", - "HP:0002150", - "HP:0011842", - "UPHENO:0068089", - "UPHENO:0075696", - "UBERON:0004765", - "UBERON:0000467", - "CHEBI:33273", - "UPHENO:0076703", - "UBERON:0000065", - "HP:0002653", - "UPHENO:0084654", - "CHEBI:35568", - "CHEBI:18133", - "UPHENO:0004536", - "CL:0000000", + "CHEBI:33709", + "HP:0012072", + "UPHENO:0080658", + "HP:0000093", + "CHEBI:50047", + "UPHENO:0068565", + "CHEBI:15841", + "UPHENO:0051608", + "UPHENO:0068024", + "HP:0012610", + "UPHENO:0048750", + "HP:0031980", + "HP:0003646", + "HP:6000531", + "UPHENO:0051714", "UBERON:0000479", - "CHEBI:83821", - "UPHENO:0000541", - "UPHENO:0051739", - "UPHENO:0066943", - "UBERON:0002390", - "HP:0004325", - "CHEBI:35584", - "UPHENO:0078555", - "UPHENO:0081547", - "CHEBI:25414", - "UPHENO:0086132", + "UPHENO:0066927", + "UPHENO:0002248", + "UBERON:0001231", + "UBERON:0004819", + "UPHENO:0024906", + "UPHENO:0005285", + "UPHENO:0066954", + "UPHENO:0002252", + "UPHENO:0066964", + "UBERON:0006555", + "UBERON:0000483", + "UPHENO:0002668", + "UBERON:0009773", "UBERON:0007684", "UBERON:0004211", - "CHEBI:18059", - "UBERON:0000916", - "UPHENO:0079536", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0034149", - "HP:0012072", - "GO:0008150", - "UPHENO:0051763", - "UPHENO:0068491", - "UBERON:0001062", - "HP:0001510", - "CHEBI:25696", - "UPHENO:0002964", - "HP:0000119", - "UPHENO:0082542", - "UPHENO:0000543", - "UPHENO:0051686", - "CHEBI:36915", + "HP:0001947", + "UPHENO:0002564", + "UPHENO:0005141", + "UPHENO:0002859", + "HP:0032943", + "UPHENO:0002359", + "HP:0003011", + "UPHENO:0003047", + "HP:0001324", + "UPHENO:0010799", + "GO:0040007", + "CHEBI:16670", + "HP:0004325", + "UPHENO:0054304", + "HP:0001824", + "UPHENO:0054315", + "UPHENO:0049874", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0025142", + "HP:0012531", + "UPHENO:0005092", + "UPHENO:0089770", + "UPHENO:0089756", + "CHEBI:60242", + "CHEBI:24835", + "CHEBI:36914", + "UPHENO:0051645", + "UPHENO:0080556", + "UPHENO:0054374", + "HP:0002900", + "UPHENO:0005201", + "HP:0010929", + "HP:0003081", + "UPHENO:0051849", + "GO:0005623", + "UPHENO:0068054", + "UPHENO:0051777", + "HP:0012103", + "HP:0010967", + "CHEBI:29067", + "GO:0005622", + "GO:0005737", + "GO:0043226", + "UPHENO:0034319", + "CHEBI:33674", + "CHEBI:25699", + "UPHENO:0002636", + "CHEBI:36358", + "UPHENO:0084537", + "GO:0005575", + "UPHENO:0046337", + "HP:0011843", + "HP:0003234", + "UPHENO:0006889", + "UPHENO:0082544", + "CHEBI:17126", + "UPHENO:0084472", + "CHEBI:28868", + "CHEBI:33575", + "HP:0004359", + "CHEBI:22860", + "UPHENO:0051979", + "CHEBI:35284", + "CHEBI:35366", + "CHEBI:33608", + "CHEBI:24651", + "CHEBI:25741", + "UPHENO:0089739", + "CHEBI:18059", + "UPHENO:0084542", + "CHEBI:35757", + "CHEBI:27369", + "UPHENO:0084541", + "UPHENO:0051881", + "HP:0004364", + "CHEBI:25810", + "UPHENO:0089745", + "HP:0033354", + "UPHENO:0066921", + "HP:0002157", + "CHEBI:51143", + "UPHENO:0010808", + "CHEBI:33655", + "CHEBI:5686", + "CHEBI:33636", + "CHEBI:33832", + "HP:0011042", + "CHEBI:25367", + "UPHENO:0068442", + "UPHENO:0068251", + "UPHENO:0046383", + "CHEBI:27171", + "CHEBI:38101", + "CHEBI:33833", + "HP:0003537", + "CHEBI:35875", + "UPHENO:0068064", + "CHEBI:72695", + "CHEBI:35352", + "CHEBI:33671", + "GO:0043231", + "CHEBI:33672", + "CHEBI:37622", + "CHEBI:24532", + "UPHENO:0066903", + "CHEBI:33659", + "UPHENO:0003941", + "CHEBI:24870", + "CHEBI:33259", + "HP:0010932", + "CHEBI:24867", + "HP:0002049", + "UPHENO:0068296", + "UPHENO:0066739", + "UPHENO:0034351", + "UPHENO:0051960", + "HP:0100529", + "UPHENO:0081550", + "UPHENO:0002360", + "UBERON:0009569", + "UBERON:0001285", + "UBERON:0013701", + "CHEBI:22313", + "HP:0012211", + "UBERON:0015212", + "UBERON:0000489", + "UPHENO:0050433", + "UPHENO:0002377", + "UBERON:0005173", + "UPHENO:0002210", + "UBERON:0005177", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002246", + "UBERON:0003914", + "CHEBI:64709", + "CHEBI:38166", + "UPHENO:0002267", + "HP:0012622", + "UPHENO:0002634", + "HP:0011013", + "UPHENO:0075902", "UPHENO:0068036", - "UPHENO:0081548", + "CHEBI:36915", + "UPHENO:0051686", "CHEBI:33579", - "UPHENO:0051668", - "GO:0009112", - "CHEBI:36359", + "HP:0002148", + "CHEBI:36357", + "GO:0008152", + "HP:0011279", + "HP:0002659", + "UPHENO:0002385", "CHEBI:33675", + "UPHENO:0051766", + "HP:0001507", + "CHEBI:37577", + "UPHENO:0066925", + "HP:0012591", + "HP:0000079", + "UPHENO:0077826", + "UPHENO:0002427", + "UPHENO:3000004", + "HP:0020129", + "UPHENO:0046348", + "HP:0006530", + "UPHENO:0002442", + "UPHENO:0002731", + "UPHENO:0010763", + "UBERON:0000915", + "HP:0010996", "UBERON:8450002", "CHEBI:33302", - "GO:0032501", - "UBERON:0013701", - "UBERON:0000025", + "UPHENO:0002269", + "UPHENO:0002909", + "CHEBI:23367", + "HP:0002909", + "UPHENO:0002642", "CHEBI:33256", - "UPHENO:0051900", - "HP:0002049", - "HP:0011014", - "HP:0012599", - "UPHENO:0002332", - "UPHENO:0078554", - "HP:0033127", - "UBERON:0001630", - "CHEBI:35381", - "UBERON:0005181", - "HP:0010966", - "UPHENO:0080659", + "UBERON:0000025", "HP:0001939", + "HP:0000077", + "CHEBI:78616", + "GO:0005739", + "HP:0010966", + "CHEBI:35381", "CHEBI:26082", - "GO:0040007", - "CHEBI:36357", - "UPHENO:0077821", - "UPHENO:0019970", - "CHEBI:33595", - "UPHENO:0081550", - "HP:0002086", - "GO:0001503", - "UBERON:0000062", - "CHEBI:26401", - "HP:0003119", - "GO:0005975", - "HP:0000079", - "GO:0044238", - "GO:0044281", - "CHEBI:37577", - "HP:0002749", - "HP:0001507", - "UPHENO:0068064", - "BFO:0000001", - "UPHENO:0054261", - "CHEBI:26079", - "UBERON:0010000", - "CHEBI:33839", - "UBERON:0001008", - "CHEBI:24833", - "UPHENO:0049874", "UPHENO:0046283", - "CHEBI:16646", - "HP:0000124", - "UPHENO:0067999", - "UPHENO:0068102", - "UPHENO:0082835", - "GO:0006631", - "HP:0003287", - "UPHENO:0020748", - "HP:0004910", - "UPHENO:0051678", - "UBERON:0004111", - "GO:0043227", - "BFO:0000002", - "CHEBI:23367", - "CHEBI:36360", - "UPHENO:0051766", - "CHEBI:24431", - "CHEBI:33318", - "HP:0003111", - "UPHENO:0080555", - "HP:0011015", - "UBERON:0004122", - "UBERON:0002113", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0010795", - "UBERON:0000483", - "UPHENO:0082543", - "UBERON:0005178", - "UBERON:0011216", - "HP:0000001", - "HP:0006530", - "UPHENO:0066927", - "UPHENO:0081440", - "UPHENO:0046348", - "HP:0020129", - "HP:0003076", - "UPHENO:0051847", "HP:0011277", - "UBERON:0005177", - "CHEBI:33241", - "GO:0008152", - "UPHENO:0078592", - "UPHENO:0001002", + "UPHENO:0068491", + "CHEBI:36360", + "HP:0430071", + "UPHENO:0002559", + "UPHENO:0049904", + "UBERON:0001434", + "CHEBI:33917", + "UPHENO:0002525", + "UPHENO:0002870", + "UPHENO:0002964", + "HP:0000119", + "UPHENO:0001003", + "HP:0003149", + "CHEBI:33238", + "UPHENO:0049628", "HP:0003774", - "HP:0004349", - "UPHENO:0050342", "HP:0012603", + "UPHENO:0050065", + "HP:0004349", + "UPHENO:0082834", + "UPHENO:0003022", "BFO:0000040", - "HP:0012211", - "UBERON:0015212", - "UBERON:0001474", - "CHEBI:51151", - "UPHENO:0082875", - "UPHENO:0034276", - "GO:0019752", - "UBERON:0001088", - "UPHENO:0050791", - "UPHENO:0024906", - "HP:0000118", - "UPHENO:0051736", - "UPHENO:0002832", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0002748", - "CHEBI:16541", - "UBERON:0000463", - "CHEBI:18282", - "HP:0003126", - "UBERON:0000178", - "UPHENO:0078646", - "UBERON:0006314", - "CHEBI:33559", - "HP:0040156", - "UBERON:0001015", - "HP:0012606", - "GO:0006144", - "GO:0006629", - "HP:0010996", - "CHEBI:33635", - "CHEBI:25384", + "UPHENO:0002963", + "CHEBI:33241", + "HP:0002653", + "UPHENO:0076703", + "UPHENO:0088582", + "UPHENO:0002526", + "CL:0000000", + "UPHENO:0004536", + "UBERON:0005090", + "UBERON:0000468", + "UBERON:0002417", + "CHEBI:35406", + "UPHENO:0034253", + "CHEBI:26469", + "UBERON:0000072", "CHEBI:36916", + "CHEBI:25384", "UPHENO:0079822", - "CHEBI:26469", - "UBERON:0011676", + "CHEBI:33635", + "UBERON:0000061", + "CHEBI:36359", + "HP:0003110", + "UPHENO:0066960", + "HP:0003287", + "HP:0001944", + "UPHENO:0002320", + "UPHENO:0084653", + "UPHENO:0002308", + "UBERON:0001005", + "UBERON:0006314", + "UBERON:0000178", + "CHEBI:22314", + "UPHENO:0077817", + "HP:0010930", + "UBERON:0013702", + "CHEBI:33304", + "UPHENO:0034199", + "HP:0011017", + "UPHENO:0002976", + "HP:0001943", + "HP:0003330", + "UPHENO:0001001", + "UPHENO:0081440", + "UBERON:0002204", + "UPHENO:0086908", + "UPHENO:0084654", + "CHEBI:35604", + "UPHENO:0002422", + "UBERON:0002193", + "UPHENO:0089735", + "HP:0000924", "UBERON:0000174", - "HP:0002900", - "HP:0003355", - "UPHENO:0076289", - "CHEBI:33582", - "UBERON:0000465", - "UPHENO:0054299", - "UPHENO:0010763", - "UPHENO:0034391", - "UPHENO:0076294", - "HP:0001942", - "CHEBI:17234", - "UPHENO:0086128", - "UBERON:0009569", - "UPHENO:0002642", - "HP:0001824", - "UBERON:0011143", - "HP:0003011", - "UBERON:0005090", - "UBERON:0000468", - "UPHENO:0001005", - "UBERON:0000383", - "UPHENO:0051635", + "UPHENO:0066939", + "HP:0002086", + "HP:0003119", + "CHEBI:26401", + "UBERON:0000062", + "CHEBI:32988", + "UPHENO:0081581", + "HP:0000001", + "UBERON:0011216", + "UBERON:0005178", + "HP:0004910", + "GO:0043227", + "UBERON:0004111", + "HP:0012599", + "HP:0011842", + "HP:0002150", + "UBERON:0001630", + "HP:0033127", + "UPHENO:0051763", + "GO:0008150", + "UPHENO:0051619", + "UPHENO:0051628", + "UPHENO:0002530", + "BFO:0000015", "BFO:0000003", "PR:000050567", + "UBERON:0011676", + "UPHENO:0003093", + "UPHENO:0002311", + "HP:0004348", + "UBERON:0003103", "UPHENO:0068110", - "UBERON:0001231", - "CHEBI:22313", - "HP:0000077", - "CHEBI:78616", - "UPHENO:0079824", - "UBERON:0000064", - "HP:0004360", - "UBERON:0009773", - "UBERON:0004819", - "UPHENO:0002320", + "UPHENO:0002536", + "UPHENO:0076692", + "CHEBI:36963", + "GO:0001503", + "UPHENO:0050064", + "CHEBI:33273", + "UBERON:0000467", + "UBERON:0004765", + "BFO:0000004", + "UBERON:0000179", + "UPHENO:0051635", + "UBERON:0000383", + "HP:0011804", + "UPHENO:0082794", + "HP:0000083", + "GO:0032501", + "HP:0001995", + "UPHENO:0010850", + "UPHENO:0001002", + "UPHENO:0003430", + "UPHENO:0034276", + "UPHENO:0089737", + "UPHENO:0082875", "UBERON:0002100", - "UPHENO:0068134", - "HP:0001324", - "UPHENO:0046284", - "HP:0001947", + "UBERON:0001474", + "UPHENO:0002287", + "HP:0010935", + "UPHENO:0002783", + "UBERON:0004122", + "CHEBI:33839", + "CHEBI:26079", + "CHEBI:24833", + "UBERON:0001008", + "UPHENO:0004791", "HP:0011849", - "GO:0055086", - "UBERON:0005173", - "UPHENO:0050433", - 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"HP:0025142", - "HP:0032943", - "HP:0001995", - "GO:0055080", - "HP:0004918", + "UBERON:0002113", + "CHEBI:33250", + "CHEBI:33559", + "CHEBI:16541", + "GO:0050878", + "UPHENO:0046344", + "HP:0011280", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0086172", + "GO:0065008", + "CHEBI:35281", + "BFO:0000020", "HP:0011032", - "HP:0003110", - "UPHENO:0051659", - "UPHENO:0001003", - "UPHENO:0068079", - "HP:0003646", - "HP:0031980", - "HP:6000531", - "CHEBI:35604", - "UPHENO:0051714", - "UPHENO:0051619", - "HP:0003234", - "HP:0012610", - "UPHENO:0068024", - "CHEBI:35552", - "CHEBI:15841", - "UPHENO:0051801", - "CHEBI:32988", - "UBERON:0001285", - "UPHENO:0068565", - "UPHENO:0068247", - "CHEBI:50047", - "UPHENO:0080658", - "CHEBI:33709", - "UPHENO:0068091", - "UPHENO:0049618", - "UPHENO:0068144", - "UPHENO:0046286", - "UPHENO:0068495", + "CHEBI:26708", + "UPHENO:0046356", + "UBERON:0001015", + "UPHENO:0003088", + "HP:0012606", + "CHEBI:24431", + "CHEBI:33318", + "HP:0003111", ], "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", + "Growth delay", + "delayed growth", + "amino acid level phenotype", + "Elevated urinary carboxylic acid", + "Organic aciduria", + "Abnormal urine amino acid level", "amino acid", - "Abnormal circulating organic compound concentration", - "abnormal mitochondrion", - "molecular entity", - "heteroorganic entity", - "abnormal chemical homeostasis", - "abnormal urine organic anion level", - "Abnormal urine metabolite level", - "abnormal monocarboxylic acid metabolic process", - "primary metabolic process", - "abnormal blood glucose level", - "Decreased plasma carnitine", - "Abnormal lung morphology", - "proximo-distal subdivision of respiratory tract", - "abnormal homeostatic process", - "abnormal anatomical entity morphology in the independent continuant", - "thoracic cavity element", - "multicellular organism", - "respiratory airway", - "pair of lungs", - "regulation of biological quality", - "abnormal respiratory system", - "viscus", - "abnormal respiratory system morphology", - "monocarboxylic acid metabolic process", - "lung fibrosis", - "subdivision of tube", - "abnormality of multicellular organism mass", - "organic substance metabolic process", - "increased level of chemical entity", - "Abnormal cellular physiology", - "inorganic cation", - "epithelial tube", - "increased bodily fluid acid level", - "Bicarbonaturia", - "oxygen molecular entity", - "organooxygen compound", - "Abnormality of fluid regulation", - "Abnormality of the skeletal system", - "lung", - "abnormal independent continuant phosphate level", - "Hypercalciuria", - "s-block element atom", - "metal atom", - "uric acid", - "Stage 5 chronic kidney disease", - "Abnormal urinary electrolyte concentration", - "mesoderm-derived structure", - "non-functional anatomical entity", - "thoracic segment organ", - "skeletal system", - "hydrides", - "increased level of potassium atom in urine", - "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "bone element", - "Decreased bone element mass density", - "Decreased anatomical entity mass density", - "abnormal lung morphology", - "alkaline earth metal atom", - "Abnormal skeletal morphology", - "abnormal glucose homeostasis", - "decreased level of phosphate in independent continuant", - "mancude organic heterobicyclic parent", - "hemolymphoid system", - "delayed biological_process", - "oxoacid", - "carbohydrates and carbohydrate derivatives", - "thoracic segment of trunk", - "increased level of amino acid in independent continuant", - "abnormally decreased functionality of the anatomical entity", - "inorganic molecular entity", - "abdomen element", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Proteinuria", - "abnormal role bodily fluid level", - "abnormal lipid metabolic process", - "blood", - "Metabolic acidosis", - "increased level of glucose in independent continuant", - "aldose", - "lateral structure", - "abnormal phenotype by ontology source", - "abnormal growth", - "main group molecular entity", - "abnormality of renal system physiology", - "monosaccharide", - "nucleobase-containing small molecule metabolic process", - "hematopoietic system", - "purines", - "abnormal purine nucleobase metabolic process", - "heteroatomic molecular entity", - "abnormal genitourinary system", - "Abnormality of urine homeostasis", - "organ system subdivision", - "Aminoaciduria", - "abnormality of respiratory system physiology", - "abnormality of anatomical entity mass", - "polyatomic entity", - "trunk", - "metabolic process", - "carbon group molecular entity", - "carbohydrate metabolic process", - "Pulmonary fibrosis", - "abnormal independent continuant chemical entity level", - "abnormal skeletal system", - "Abnormal renal physiology", - "Weight loss", - "organic cyclic compound", - "Hyperchloremic acidosis", - "organ", - "occurrent", - "Hypoglycemia", - "decreased level of carnitine in independent continuant", - "Chronic kidney disease", - "material anatomical entity", - "muscle structure", - "aldohexose", - "subdivision of organism along main body axis", - "cellular anatomical entity", - "atom", - "genitourinary system", - "renal tubule", - "biological_process", - "increased bodily fluid role level", - "Decreased body weight", - "lipid", - "carbohydrate", - "renal system", - "oxopurine", - "respiratory system", - "abnormal sodium atom level", - "abnormal amino-acid betaine level", - "organochalcogen compound", - "Abnormal homeostasis", - "Abnormal muscle physiology", - "Increased susceptibility to fractures", - "Abnormal respiratory system physiology", - "potassium molecular entity", - "homeostatic process", - "abnormal carbohydrate metabolic process", - "p-block molecular entity", - "abnormal chemical entity level", - "Abnormality of metabolism/homeostasis", + "urine amino acid level phenotype", + "urine glucose level phenotype", + "macromolecule", + "increased level of protein polypeptide chain in urine", + "peptide", + "Abnormal urine protein level", + "Low-molecular-weight proteinuria", + "organic amino compound", + "urine uric acid level phenotype", + "increased level of purines", + "Hyperuricosuria", + "urine hydrogencarbonate level phenotype", + "Abnormality of urine bicarbonate level", + "hydrogencarbonate level phenotype", + "increased level of hydrogencarbonate in urine", + "hydrogencarbonate", + "decreased functionality of the nephron epithelium", + "tissue physiology phenotype", + "increased level of uric acid in urine", + "nephron tubule phenotype", + "decreased functionality of the nephron tubule", + "decreased functionality of the epithelium", "nephron", - "tissue", - "continuant", - "Abnormal circulating nucleobase concentration", - "protein polypeptide chain", - "monoatomic ion homeostasis", - "increased independent continuant role level", - "entity", - "subdivision of trunk", - "pnictogen molecular entity", - "Abnormality of the urinary system", - "Aciduria", - "Osteomalacia", - "Abnormality of the musculature", - "decreased role independent continuant level", - "ossification", - "abnormal carbohydrate homeostasis", - "increased level of calcium atom in urine", - "phosphorus oxoacid derivative", - "abnormal regulation of body fluid levels", "excretory tube", - "compound organ", - "kidney epithelium", - "abnormal urine chemical entity level", - "phosphorus oxoacids and derivatives", - "Abnormal blood phosphate concentration", - "Abnormal bone structure", - "All", - "anatomical collection", - "Abnormality of the respiratory system", - "Abnormality of the urinary system physiology", - "increased level of potassium atom in independent continuant", - "excreta", - "abnormal metabolic process", - "organic oxo compound", - "abnormal acid bodily fluid level", - "regulation of body fluid levels", - "abnormal blood chemical entity level", - "decreased level of chemical entity", - "abnormal anatomical entity", - "Dehydration", - "polyatomic ion", - "Renal insufficiency", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "carboxylic acid metabolic process", - "phosphate", - "abnormal multicellular organism chemical entity level", - "alkali metal cation", - "phosphoric acid derivative", - "abnormal renal system", - "Abnormal circulating metabolite concentration", - "abnormal independent continuant calcium atom level", - "nucleobase", - "increased level of carboxylic acid in urine", - "abnormal musculature", - "hexose", - "multicellular anatomical structure", - "abnormal primary metabolic process", - "body proper", - "increased level of glucose in urine", - "organic acid", - "abnormal metabolite independent continuant level", - "excretory system", - "abnormal small molecule metabolic process", - "abnormal independent continuant monoatomic ion level", - "material entity", - "anatomical entity", - "Decreased multicellular organism mass", - "abnormal independent continuant organic anion level", - "monoatomic entity", + "decreased functionality of the anatomical structure", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "decreased functionality of the tissue", + "decreased functionality of the renal tubule", + "Renal tubular acidosis", + "Renal tubular dysfunction", + "tube phenotype", + "decreased functionality of the tube", + "epithelium", + "decreased functionality of the material anatomical entity", + "renal tubule", + "decreased functionality of the multicellular anatomical structure", + "epithelial tube phenotype", "uriniferous tubule", - "abnormal upper urinary tract", - "abnormal cellular metabolic process", - "musculoskeletal system", - "carnitine", - "cytoplasm", "nephron epithelium", + "renal tubule phenotype", + "muscle structure phenotype", + "decreased anatomical entity strength", + "multicellular organism mass phenotype", + "multicellular anatomical structure mass phenotype", + "Weight loss", + "anatomical entity mass phenotype", + "Decreased body weight", + "decreased anatomical structure mass", + "multicellular organism phenotype", "Abnormality of body weight", - "growth", - "heteropolycyclic compound", - "decreased muscle organ strength", - "bicyclic compound", - "cellular_component", - "abnormal monoatomic ion homeostasis", + "Decreased multicellular organism mass", + "tube physiology phenotype", + "Constitutional symptom", + "Pain", + "anatomical entity dysfunction in independent continuant", + "Abnormal musculoskeletal physiology", + "inorganic ion", + "decreased level of potassium atom in blood", + "Abnormal blood monovalent inorganic cation concentration", + "monovalent inorganic cation", + "Abnormal blood cation concentration", + "inorganic molecular entity", + "anatomical conduit phenotype", + "blood monovalent inorganic cation level phenotype", + "epithelial tube physiology phenotype", + "potassium atom", + "urine potassium atom level phenotype", + "s-block molecular entity", + "intracellular organelle", + "membrane-bounded organelle", + "cellular_component phenotype", + "Abnormality of the mitochondrion", + "musculoskeletal system phenotype", + "Abnormal circulating fatty-acid concentration", + "blood monocarboxylic acid level phenotype", "nephron tubule", "hydrogen molecular entity", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "anatomical entity dysfunction in independent continuant", + "hydroxides", + "oxide", + "intracellular membrane-bounded organelle", + "Abnormal circulating carnitine concentration", "muscle organ", - "dipolar compound", "Increased urinary potassium", - "ammonium betaine", - "increased level of uric acid in independent continuant", - "increased independent continuant base level", - "abnormal calcium atom level", - "musculature of body", - "Abnormality of the upper urinary tract", - "Bone pain", - "decreased anatomical entity strength", - "carbohydrate homeostasis", - "increased level of chemical entity in independent continuant", - "Renal tubular dysfunction", - "abnormal role independent continuant level", - "metal cation", - "decreased level of phosphate in blood", - "abnormal phosphate level", - "tube", - "organic aromatic compound", - "endoderm-derived structure", - "trunk region element", - "Abnormal pulmonary interstitial morphology", - "Renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", - "upper urinary tract", - "Abnormal respiratory system morphology", - "multicellular organismal process", - "abnormal blood phosphate level", - "obsolete cellular aromatic compound metabolic process", - "organ part", - "Muscle weakness", - "organism substance", - "Bicarbonate-wasting renal tubular acidosis", - "increased level of calcium atom in independent continuant", - "increased independent continuant acid level", - "biological regulation", - "abdominal segment of trunk", - "abnormal urine calcium atom level", - "abnormality of kidney physiology", - "epithelium", - "respiratory tract", - "organism subdivision", - "organic ion", - "phosphorus molecular entity", - "anatomical structure", - "Abnormal circulating carbohydrate concentration", - "musculature", - "calcium atom", - "decreased role blood level", - "anatomical conduit", - "Acidosis", - "purine", - "decreased anatomical entity mass", - "abdomen", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "skeletal element", - "cavitated compound organ", - "abnormal bone element mass density", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", + "dipolar compound", + "oxoanion", + "muscle organ physiology phenotype", "Abnormal cellular phenotype", - "Abnormal glucose homeostasis", - "abnormal urine phosphate level", - "bodily fluid", - "glucose homeostasis", - "process", - "abnormal independent continuant glucose level", - "Abnormal blood glucose concentration", - "organonitrogen compound metabolic process", - "abnormal role urine level", - "haemolymphatic fluid", - "abnormal hematopoietic system", - "abnormal independent continuant sodium atom level", - "oxoacid derivative", - "Abnormal urine sodium concentration", - "lower respiratory tract", - "abnormal independent continuant nitrogen molecular entity level", - "sodium atom", - "Renal sodium wasting", - "delayed growth", - "decreased level of carnitine in blood", - "alkali metal atom", - "Abnormal musculoskeletal physiology", - "Abnormal urine potassium concentration", - "abnormal blood monoatomic ion level", - "intracellular anatomical structure", - "decreased level of uric acid in independent continuant", - "Azotemia", - "decreased level of chemical entity in blood", - "decreased level of chemical entity in independent continuant", - "Abnormality of mitochondrial metabolism", - "Decreased anatomical entity mass", - "inorganic ion homeostasis", - "Hypophosphatemia", - "Renal phosphate wasting", - "Abnormal circulating monocarboxylic acid concentration", - "Hypophosphatemic rickets", - "Abnormal blood ion concentration", - "elemental molecular entity", - "ion", - "fatty acid", - "Abnormality of urine calcium concentration", - "organic cyclic compound metabolic process", - "phosphate ion homeostasis", - "Hypouricemia", - "cellular metabolic process", - "obsolete nitrogen compound metabolic process", - "small molecule metabolic process", - "obsolete heterocycle metabolic process", - "non-functional kidney", - "heterocyclic organic fundamental parent", - "chemical entity", + "amino acid derivative level phenotype", "Abnormal circulating carboxylic acid concentration", - "abnormal nucleobase metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "nucleobase-containing compound metabolic process", - "Decreased circulating purine concentration", - "anatomical system", - "mitochondrion", - "abnormal independent continuant carnitine level", - "Hypokalemia", - "abnormal cellular process", - "Abnormal circulating carnitine concentration", - "mancude ring", - "elemental potassium", - "increased level of purines in independent continuant", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "decreased level of uric acid in blood", - "decreased multicellular organism mass", - "abnormal blood uric acid level", - "s-block molecular entity", - "Abnormal urine phosphate concentration", - "organic hydride", - "Abnormality of urinary uric acid level", - "aromatic compound", - "nitrogen molecular entity", - "polycyclic compound", - "respiration organ", - "abnormality of muscle organ physiology", - "organic molecule", - "cyclic compound", - "mancude organic heterocyclic parent", - "Abnormal circulating purine concentration", - "Abnormal urine protein level", - "cellular process", - "amino-acid betaine", "increased level of organic acid in urine", - "phenotype", - "decreased level of potassium atom in independent continuant", - "nucleobase metabolic process", - "main group element atom", + "amino-acid betaine", + "monocarboxylic acid", + "cell", + "Abnormal blood potassium concentration", + "carbon oxoacid", + "monocarboxylic acid anion", + "carbonyl compound", + "zwitterion", + "blood fatty acid anion level phenotype", + "Decreased circulating carnitine concentration", + "amino acid derivative", + "nephron epithelium phenotype", + "quaternary nitrogen compound", + "polyatomic anion", + "fatty acid anion", + "carboxylic acid", + "muscle structure physiology phenotype", + "lipid level phenotype", + "Abnormality of mitochondrial metabolism", "molecule", - "abnormal biological_process", - "kidney", - "Growth delay", - "organic mancude parent", - "Reduced bone mineral density", - "abnormal blood nitrogen molecular entity level", - "Abnormality of the kidney", - "abnormal independent continuant carbohydrate level", - "decreased level of purines", "cation", - "purine nucleobase metabolic process", - "Abnormality of the genitourinary system", - "organic heterocyclic compound", - "heterobicyclic compound", - "abnormal independent continuant uric acid level", - "abnormal blood carnitine level", + "decreased level of purines", + "blood nitrogen molecular entity level phenotype", "increased level of chemical entity in blood", - "heteroarene", - "organic molecular entity", - "abnormal anatomical entity mass density", - "increased level of organic molecular entity in independent continuant", - "organic heteropolycyclic compound", - "organonitrogen heterocyclic compound", - "abnormal fatty acid metabolic process", - "onium betaine", - "glucose", - "fatty acid anion", - "polyatomic anion", - "urine", - "Abnormality of acid-base homeostasis", - "quaternary nitrogen compound", - "increased level of monosaccharide in independent continuant", - "Hyperchloremic metabolic acidosis", - "amino acid derivative", - "cellular lipid metabolic process", - "cellular modified amino acid metabolic process", - "organic fundamental parent", - "organic acid metabolic process", - "lipid metabolic process", - "quality", - "carboxylic acid", - "abnormal amino acid derivative level", - "phenotype by ontology source", - "oxoanion", - "carboxylic acid anion", - "abnormal cellular_component", - "abnormal carboxylic acid metabolic process", + "blood nucleobase level phenotype", + "Azotemia", + "cyclic compound", + "organic molecule", + "polycyclic compound", + "nitrogen molecular entity", + "aromatic compound", "Abnormal circulating nitrogen compound concentration", - "intracellular membrane-bounded organelle", - "oxide", - "organic anion", - "hydroxides", - "heterocyclic compound", - "abnormal cell", - "Abnormal circulating fatty-acid anion concentration", - "abnormal carnitine metabolic process", - "abnormal role blood level", - "organelle", + "blood uric acid level phenotype", + "decreased level of uric acid in blood", + "imidazopyrimidine", + "growth", + "heteropolycyclic compound", + "heterobicyclic compound", + "organic heterocyclic compound", + "increased level of nitrogen molecular entity in blood", + "decreased functionality of the excretory tube", + "organonitrogen heterocyclic compound", + "Hypouricemia", + "increased level of chemical entity in bodily fluid", + "monoatomic entity", + "monoatomic ion", + "decreased level of chemical entity in blood", + "blood cation level phenotype", + "blood monoatomic ion level phenotype", + "Hypophosphatemic rickets", "Abnormal urine carboxylic acid level", - "Abnormal circulating fatty-acid concentration", - "fatty acid metabolic process", - "Abnormality of bone mineral density", - "organic heterobicyclic compound", - "hydrogencarbonate", - "oxoacid metabolic process", - "abnormal urine sodium atom level", - "carboxamide", - "Generalized aminoaciduria", - "amino-acid betaine metabolic process", - "intracellular organelle", - "membrane-bounded organelle", - "anion", + "decreased level of chemical entity", + "ion", + "cavitated compound organ", + "skeletal element", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "organic heteropolycyclic compound", + "blood organic molecular entity level phenotype", + "trunk region element phenotype", + "mitochondrion phenotype", + "abdominal segment of trunk", + "trunk region element", + "amide", + "chemical entity level phenotype", + "decreased functionality of the anatomical conduit", + "Chronic kidney disease", + "muscle structure", + "lipid", + "material anatomical entity", + "Hypoglycemia", + "Abnormality of the kidney", + "cavitated compound organ physiology phenotype", + "organic molecular entity", + "abdomen element", + "abdominal segment element physiology phenotype", + "Abnormality of urinary uric acid level", + "abdominal segment element phenotype", + "biological_process phenotype", + "main body axis", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "intracellular anatomical structure", + "heteroatomic molecular entity", + "Aciduria", + "Abnormality of the urinary system", + "amino-acid betaine level phenotype", + "excretory system", + "abdomen element phenotype", + "p-block molecular entity", + "excretory tube physiology phenotype", + "homeostatic process", + "material anatomical entity mass phenotype", + "Abnormal respiratory system physiology", + "Abnormal muscle physiology", + "Increased susceptibility to fractures", + "Abnormal homeostasis", + "organochalcogen compound", + "renal system physiology phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", "decreased level of amino-acid betaine", - "Abnormality of the mitochondrion", - "primary amide", - "carnitine metabolic process", - "zwitterion", - "carbonyl compound", - "monocarboxylic acid anion", - "purine-containing compound metabolic process", - "carbon oxoacid", + "multicellular organism morphology phenotype", + "trunk", + "chemical entity", + "phosphorus molecular entity", + "organic oxo compound", + "excreta", + "carboxylic acid anion", + "multicellular anatomical structure physiology phenotype", + "genitourinary system", + "atom", + "regulation of body fluid levels", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "respiration organ phenotype", + "uric acid", + "metal atom", + "organism substance", + "trunk region element physiology phenotype", + "homeostatic process phenotype", + "viscus", + "main group molecular entity", + "urine phosphate level phenotype", + "material anatomical entity physiology phenotype", + "polyatomic entity", + "Abnormal blood ion concentration", + "taxon specific phenotype", + "aldohexose", + "tissue", + "anatomical system physiology phenotype", + "Bone pain", + "Abnormality of the upper urinary tract", + "phosphate level phenotype", + "Proteinuria", + "protein-containing material entity", + "thoracic segment organ phenotype", + "phosphate", + "Growth abnormality", + "anatomical entity morphology phenotype", + "musculoskeletal system physiology phenotype", + "Abnormal skeletal morphology", + "alkaline earth metal atom", + "skeletal system phenotype", + "protein polypeptide chain", + "Abnormal circulating nucleobase concentration", + "continuant", + "muscle organ phenotype", + "anatomical structure", + "decreased role blood level", + "musculature", + "polypeptide", + "organic ion", + "Abnormality of bone mineral density", + "anatomical conduit", + "musculature of body", + "organic cyclic compound", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "entity", + "Decreased anatomical entity mass density", + "main group element atom", + "Abnormality of the musculoskeletal system", + "renal/urinary system phenotype", + "anatomical entity", + "Hypokalemia", + "mitochondrion", + "anatomical structure phenotype", + "urine organic anion level phenotype", + "Abnormality of the genitourinary system", + "phosphoric acid derivative", + "quality", + "Reduced bone mineral density", + "Renal insufficiency", + "anatomical entity fibrosis", + "Abnormality of metabolism/homeostasis", + "polyatomic ion", + "Dehydration", + "heteroarene", + "anatomical system phenotype", + "kidney epithelium", "obsolete cell", - "Abnormal blood potassium concentration", - "cell", - "monocarboxylic acid", - "chalcogen molecular entity", - "abnormal potassium atom level", - "abnormal independent continuant potassium atom level", + "Abnormal blood phosphate concentration", + "compound organ", + "phosphorus oxoacids and derivatives", + "anion", + "organ physiology phenotype", + "phenotypic effect", + "Aminoaciduria", + "organ system subdivision", + "lateral structure", + "purines", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "bone element", + "abdomen element physiology phenotype", + "anatomical structure physiology phenotype", + "organonitrogen compound", + "anatomical entity phenotype", + "mesoderm-derived structure phenotype", + "increased level of calcium atom in urine", "chemical homeostasis", - "main body axis", - "potassium atom", + "organic anion", + "anatomical entity physiology phenotype", + "increased level of carboxylic acid in urine", + "nucleobase", + "Abnormal urine phosphate concentration", + "Generalized aminoaciduria", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "heterocyclic compound", + "skeletal system", + "lateral structure physiology phenotype", + "cavitated compound organ phenotype", + "cellular anatomical entity", + "blood carboxylic acid level phenotype", + "Renal phosphate wasting", + "Glycosuria", + "abdominal segment element", "Abnormal bone ossification", - "abnormal urine potassium atom level", - "abnormal kidney", - "Abnormal blood cation concentration", - "Abnormal blood monovalent inorganic cation concentration", - "abnormal urine hydrogencarbonate level", - "alkali metal molecular entity", - "abnormal blood potassium atom level", - "monovalent inorganic cation", - "monoatomic monocation", - "monoatomic cation", - "increased level of nitrogen molecular entity in blood", - "abnormal monoatomic cation homeostasis", - "polypeptide", - "decreased level of potassium atom in blood", - "monoatomic cation homeostasis", - "inorganic ion", - "abnormal blood potassium(1+) level", - "potassium(1+)", - "Growth abnormality", - "abnormality of musculoskeletal system physiology", - "abnormal independent continuant carboxylic acid level", - "carbon oxoanion", - "Constitutional symptom", - "anatomical entity fibrosis", - "Pain", - "independent continuant", + "increased level of potassium atom in urine", + "blood", + "kidney physiology phenotype", + "multicellular organismal process", + "Muscle weakness", + "organ part", + "multicellular anatomical structure", + "lung morphology phenotype", + "specifically dependent continuant", + "organ", + "occurrent", + "Decreased bone element mass density", + "decreased functionality of the epithelial tube", "Abnormal urine pH", - "abnormal hydrogencarbonate level", - "increased level of hydrogencarbonate in urine", - "imidazopyrimidine", - "increased level of hydrogencarbonate in independent continuant", - "Abnormal urinary organic compound level", - "Abnormality of urine bicarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "Hyperuricosuria", - "Rickets", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal urine uric acid level", - "abnormal acid independent continuant level", - "organic amino compound", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "amide", - "increased level of protein polypeptide chain in independent continuant", - "increased level of protein polypeptide chain in urine", - "macromolecule", - "peptide", - "abnormal urine glucose level", - "increased level of monosaccharide in urine", - "abnormal amino acid level", - "increased level of uric acid in urine", + "bone element phenotype", + "acid bodily fluid level phenotype", + "carbohydrate", + "biological_process", + "material entity", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", + "oxopurine", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", "increased level of amino acid in urine", - "monoatomic ion", - "abnormal urine amino acid level", - "Organic aciduria", - "increased level of organic acid in independent continuant", - "Elevated urinary carboxylic acid", - ], - "has_phenotype_count": 29, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0100238", - "category": "biolink:Disease", - "name": "inherited Fanconi renotubular syndrome", - "full_name": None, - "deprecated": None, - "description": "An instance of Fanconi renotubular syndrome that is inherited.", - "xref": ["OMIMPS:134600"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, + "compound organ phenotype", + "independent continuant", + "Proximal renal tubular acidosis", + "abdomen", + "skeletal element phenotype", + "organ phenotype", + "lung fibrosis", + "material anatomical entity phenotype", + "calcium atom level phenotype", + "Bicarbonate-wasting renal tubular acidosis", + "cell phenotype", + "skeletal system morphology phenotype", + "decreased material anatomical entity mass", + "subdivision of organism along main body axis", + "ammonium betaine", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "musculature phenotype", + "regulation of body fluid levels phenotype", + "oxoacid derivative", + "compound organ physiology phenotype", + "subdivision of trunk", + "growth phenotype", + "blood lipid level phenotype", + "Abnormal respiratory system morphology", + "organism subdivision", + "epithelium phenotype", + "organ system subdivision phenotype", + "respiratory tract", + "organelle", + "upper urinary tract phenotype", + "Acidosis", + "excretory tube phenotype", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "urine sodium atom level phenotype", + "Abnormal circulating carbohydrate concentration", + "aldose", + "glucose", + "bodily fluid", + "thoracic cavity element phenotype", + "Abnormal glucose homeostasis", + "onium betaine", + "Hyperchloremic metabolic acidosis", + "Metabolic acidosis", + "organic aromatic compound", + "Abnormality of acid-base homeostasis", + "fatty acid level phenotype", + "tube", + "process", + "urine calcium atom level phenotype", + "multicellular organism", + "hematopoietic system", + "thoracic cavity element", + "blood carnitine level phenotype", + "carnitine", + "cytoplasm", + "musculoskeletal system", + "respiratory system morphology phenotype", + "decreased multicellular anatomical structure mass", + "fatty acid", + "All", + "anatomical collection", + "thoracic segment organ", + "lower respiratory tract", + "lung phenotype", + "endoderm-derived structure", + "regulation of biological quality", + "pair of lungs", + "Bicarbonaturia", + "respiration organ", + "Abnormality of the musculature", + "thoracic segment of trunk", + "carbohydrates and carbohydrate derivatives", + "metabolic process", + "endoderm-derived structure phenotype", + "decreased muscle organ strength", + "cellular_component", + "bicyclic compound", + "biological regulation phenotype", + "respiratory system phenotype", + "Pulmonary fibrosis", + "carbon group molecular entity", + "anatomical entity morphology in the respiratory system phenotype", + "tissue phenotype", + "Abnormal circulating organic compound concentration", + "epithelial tube", + "respiratory system", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "Abnormal pulmonary interstitial morphology", + "respiratory airway", + "subdivision of tube", + "monosaccharide", + "glucose homeostasis", + "carbon oxoanion", + "renal system phenotype", + "respiratory system physiology phenotype", + "potassium atom level phenotype", + "viscus phenotype", + "Rickets", + "hemolymphoid system", + "chemical homeostasis phenotype", + "carbohydrate homeostasis", + "blood carbohydrate level phenotype", + "blood chemical entity level phenotype", + "blood potassium atom level phenotype", + "Abnormal circulating fatty-acid anion concentration", + "hematopoietic system phenotype", + "kidney phenotype", + "blood oxygen molecular entity level phenotype", + "decreased functionality of the anatomical entity", + "lateral structure phenotype", + "role blood level phenotype", + "sodium atom", + "heteroorganic entity", + "organooxygen compound", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "organic heterobicyclic compound", + "glucose homeostasis phenotype", + "urine chemical entity level phenotype", + "oxygen molecular entity", + "Abnormality of the skeletal system", + "lung", + "Abnormality of fluid regulation", + "Abnormal renal physiology", + "chalcogen molecular entity", + "role bodily fluid level phenotype", + "hexose", + "epithelium physiology phenotype", + "blood glucose level phenotype", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "Abnormal blood glucose concentration", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "role urine level phenotype", + "Decreased anatomical entity mass", + "s-block element atom", + "Hypercalciuria", + "inorganic cation", + "Abnormal cellular physiology", + "increased level of chemical entity", + "increased urine role level", + "decreased functionality of the kidney epithelium", + "calcium atom", + "Abnormality of urine calcium concentration", + "anatomical structure mass phenotype", + "increased level of chemical entity in urine", + "proximo-distal subdivision of respiratory tract", + "biological regulation", + "Abnormal urinary organic compound level", + "blood fatty acid level phenotype", + "regulation of biological quality phenotype", + "multicellular anatomical structure phenotype", + "Abnormal urine sodium concentration", + "sodium atom level phenotype", + "Abnormal urine potassium concentration", + "bone element mass density phenotype", + "carbohydrate homeostasis phenotype", + "alkali metal atom", + "increased level of glucose in urine", + "nitrogen molecular entity level phenotype", + "body proper", + "blood phosphate level phenotype", + "primary amide", + "elemental molecular entity", + ], + "has_phenotype_count": 29, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:1011503", + "category": "biolink:Disease", + "name": "Fanconi syndrome, dog", + "full_name": None, + "deprecated": None, + "description": "Fanconi syndrome that occurs in dog.", + "xref": ["OMIA:000366-9615"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, "symbol": None, - "synonym": ["hereditary Fanconi renotubular syndrome"], + "synonym": None, "uri": None, "iri": None, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": 0, "highlight": None, "score": None, }, { - "id": "MONDO:0013247", + "id": "MONDO:0030056", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 2", + "name": "Fanconi renotubular syndrome 5", "full_name": None, "deprecated": None, - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", - "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], + "description": None, + "xref": ["DOID:0080761", "GARD:16392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FRTS2", - "Fanconi renotubular syndrome 2", - "Fanconi renotubular syndrome type 2", - "Fanconi syndrome caused by mutation in SLC34A1", - "SLC34A1 Fanconi syndrome", + "FANCONI RENOTUBULAR SYNDROME 5", + "FRTS5", + "Fanconi Renotubular Syndrome, Acadian Variant", + "Fanconi renotubular syndrome 5", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0000117", - "HP:0002749", + "HP:0003774", + "HP:0004918", "HP:0002148", - "HP:0000114", - "HP:0002757", - "HP:0002748", - "HP:0000938", - "HP:0002909", - "HP:0031415", + "HP:0002206", + "HP:0004912", + "HP:0002857", + "HP:0045051", "HP:0000093", "HP:0003076", - "HP:0003165", - "HP:0004322", - "HP:0002653", - "HP:0012213", - "HP:0000083", - "HP:0002150", + "HP:0002097", + "HP:0030078", + "HP:0003355", + "HP:0005576", + "HP:0000822", ], "has_phenotype_label": [ - "Renal phosphate wasting", - "Osteomalacia", + "Stage 5 chronic kidney disease", + "Hyperchloremic metabolic acidosis", "Hypophosphatemia", - "Proximal tubulopathy", - "Recurrent fractures", - "Rickets", - "Osteopenia", - "Generalized aminoaciduria", - "High serum calcitriol", + "Pulmonary fibrosis", + "Hypophosphatemic rickets", + "Genu valgum", + "Decreased DLCO", "Proteinuria", "Glycosuria", - "Elevated circulating parathyroid hormone level", - "Short stature", - "Bone pain", - "Decreased glomerular filtration rate", - "Renal insufficiency", - "Hypercalciuria", + "Emphysema", + "Lung adenocarcinoma", + "Aminoaciduria", + "Tubulointerstitial fibrosis", + "Hypertension", ], "has_phenotype_closure": [ - "HP:0011280", - "UPHENO:0068134", - "UPHENO:0046344", - "HP:0002150", - "UPHENO:0051678", - "HP:0025142", - "UPHENO:0020584", - "GO:0040007", - "HP:0004322", - "UPHENO:0049874", - "UPHENO:0081424", - "UPHENO:0000541", - "HP:0001510", - "UPHENO:0069254", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0075159", - "UPHENO:0051936", - "HP:0012337", - "UPHENO:0077826", - "HP:0001948", - "UPHENO:0068174", - "UPHENO:0051648", - "UPHENO:0068971", - "CHEBI:33695", - "UPHENO:0051741", - "UPHENO:0082943", - "PR:000064867", - "UPHENO:0068477", - "CHEBI:33694", - "UBERON:0001969", - "UPHENO:0082536", - "UPHENO:0068472", - "UPHENO:0068068", - "HP:0002152", - "HP:0004360", - "UPHENO:0068442", - "PR:000018263", - "PR:000000001", - "UPHENO:0068104", - "UPHENO:0081550", - "HP:0012212", - "UBERON:0001977", - "UPHENO:0051635", - "UPHENO:0080658", - "UPHENO:0068054", - "HP:6000531", - "CHEBI:33917", - "CHEBI:18133", - "CHEBI:17234", - "HP:0010876", - "CHEBI:35381", - "UPHENO:0052116", - "UPHENO:0068247", - "UPHENO:0068565", - "CHEBI:16541", - "CHEBI:32988", - "UPHENO:0051801", - "CHEBI:15841", - "CHEBI:16670", - "PR:000013429", - "HP:0100508", - "UPHENO:0049873", + "HP:0002597", + "UBERON:0000055", + "UPHENO:0002678", + "HP:0030972", + "UPHENO:0002576", + "UBERON:0000477", + "HP:0000822", + "HP:0001626", + "UBERON:0002049", + "UBERON:0004535", + "UBERON:0001981", "UBERON:0034923", - "UPHENO:0051628", - "UPHENO:0068047", - "HP:0000818", - "CHEBI:26191", - "CHEBI:35350", - "CHEBI:22313", - "CHEBI:51958", - "UPHENO:0081547", - "UPHENO:0048763", - "HP:0430071", - "UPHENO:0051680", - "UBERON:0015204", - "UPHENO:0050116", - "CHEBI:33822", - "CHEBI:33832", - "CHEBI:78616", - "HP:0000077", + "UBERON:0000479", + "UPHENO:0087427", "UBERON:0001231", - "UBERON:0011143", - "GO:0048878", - "UPHENO:0080352", - "UBERON:0000179", - "CHEBI:27136", - "BFO:0000004", - "UPHENO:0066739", - "UPHENO:0075902", - "UPHENO:0049618", - "CHEBI:33259", - "UPHENO:0034217", - "UPHENO:0051630", - "UPHENO:0034253", + "UBERON:0004819", + "HP:0030760", + "UPHENO:0076779", + "HP:0000091", + "UPHENO:0076714", + "HP:0012210", + "UBERON:0009773", + "UBERON:0007684", + "UBERON:0004211", + "UPHENO:0051739", + "HP:0003355", + "CHEBI:33674", + "UBERON:0004537", + "UPHENO:0046286", + "UPHENO:0068169", + "HP:0031980", + "CHEBI:33709", + "CHEBI:24651", + "CHEBI:72695", + "CHEBI:36586", + "HP:0032943", + "HP:0030358", + "HP:0100526", + "HP:0012072", + "HP:0030078", + "HP:0011793", + "CHEBI:33575", + "MPATH:596", + "MPATH:14", + "HP:0002097", + "MPATH:25", + "HP:0025745", + "CHEBI:18133", + "CHEBI:17234", + "UPHENO:0068054", + "CHEBI:35381", + "MPATH:31", + "CHEBI:16646", "HP:0000093", - "GO:0055062", - "UBERON:0000468", - "UBERON:0002417", - "UPHENO:0051960", - "CHEBI:24870", - "UBERON:0000064", - "HP:0012531", - "GO:0050801", - "HP:0000083", - "GO:0032501", - "GO:1901360", - "HP:0004364", - "UPHENO:0078589", - "UPHENO:0078628", - "HP:0012213", - "PR:000050567", - "BFO:0000003", - "HP:0002148", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0050080", - "GO:0001503", - "HP:0000118", - "UBERON:0001434", - "UPHENO:0084653", - "CHEBI:73558", - "UPHENO:0049628", - "CHEBI:33238", - "CHEBI:35788", - "HP:0004349", - "HP:0033405", - "BFO:0000040", - "HP:0100530", - "UPHENO:0034391", - "UPHENO:0051640", - "UPHENO:0081546", - "UPHENO:0068049", + "CHEBI:15693", + "UPHENO:0081544", + "UPHENO:0051686", + "HP:0032581", + "CHEBI:36962", + "MPATH:0", + "CHEBI:25806", + "CHEBI:50860", "CHEBI:51143", - "UPHENO:0080638", - "UPHENO:0002964", - "UPHENO:0080643", - "UBERON:0011216", - "UPHENO:0082875", - "UBERON:0001474", - "UBERON:0002100", - "HP:0003330", - "UBERON:0000467", - "UBERON:0004765", + "CHEBI:16541", + "UPHENO:0048707", + "UPHENO:0046383", + "HP:0033354", + "CHEBI:37622", + "CHEBI:50047", + "CHEBI:16670", + "CHEBI:15841", + "CHEBI:36963", + "CHEBI:33285", + "CHEBI:35352", + "UBERON:0001088", + "CHEBI:36587", + "UPHENO:0089294", + "HP:0045049", + "HP:0045051", + "RO:0002577", + "UPHENO:0003070", + "UPHENO:0031166", + "HP:0040064", + "UPHENO:0041226", + "UPHENO:0031228", + "UBERON:0010912", + "UBERON:0000075", + "UPHENO:0075945", + 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"GO:0008152", - "HP:0003077", - "UPHENO:0046284", - "UBERON:0003103", - "UPHENO:0068110", - "UPHENO:0002442", - "PATO:0000001", + "UPHENO:0051960", + "MPATH:597", + "UBERON:0002428", + "UPHENO:0004459", + "UBERON:0003840", "UBERON:0002193", - "HP:0002653", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", + "UPHENO:0002422", "CHEBI:33241", - "UBERON:0000949", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", - "CHEBI:15693", - "UPHENO:0081544", - "HP:0004348", - "HP:0000001", - "UBERON:0004111", - "UBERON:0000174", - "HP:0000924", - "UBERON:0013702", - "CHEBI:33304", - "BFO:0000020", - "CHEBI:23367", - "UPHENO:0012541", - "CHEBI:36360", - "UPHENO:0068491", - "BFO:0000002", - "HP:0011277", - "GO:0071704", - "UPHENO:0051937", - "CHEBI:33709", - "CHEBI:35605", - "UPHENO:0082534", - "HP:0002749", + "UBERON:0000178", + "HP:0000118", "CHEBI:33839", "CHEBI:26079", - "HP:0031415", - "GO:0042592", - "UBERON:0000489", - "UPHENO:0082538", - "UPHENO:0082539", - "UPHENO:0001003", - "UBERON:0004120", - "UPHENO:0068538", - "HP:0001507", - "CHEBI:37577", - "HP:0012591", - "HP:0000079", - "HP:0003119", - "UBERON:0000062", - "UPHENO:0049904", - "UPHENO:0046362", - "UPHENO:0046291", - "UPHENO:0003116", - "UPHENO:0051804", - "CHEBI:33250", - "UBERON:0002113", - "HP:0000117", - "UPHENO:0077821", - "CHEBI:36357", - "UPHENO:0004459", - "GO:0098771", - "CHEBI:26082", - "CHEBI:17823", + "CHEBI:24833", + "UBERON:0001008", + "HP:0002148", + "UBERON:0007798", + "CHEBI:33304", + "HP:0002813", + "UBERON:0013702", + "UBERON:0002417", + "UBERON:0000468", "HP:0001939", - "HP:0033127", - "UPHENO:0075696", - "HP:0011842", - "HP:0012599", + "UPHENO:0087993", + "GO:0008152", + "UPHENO:0049587", + "UPHENO:0002385", + "HP:0004360", + "HP:0004918", + "HP:0001871", + "BFO:0000003", + "PR:000050567", "BFO:0000015", - "HP:0032180", - "UPHENO:0068091", - "CHEBI:37622", - "GO:0006775", - "HP:0032369", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0068169", - "CHEBI:33675", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0080659", - "UPHENO:0051668", - "CHEBI:33579", - "HP:0000119", - "UPHENO:0082542", + "HP:0011025", + "HP:0001969", + "UBERON:0005055", + "HP:0012337", + "UPHENO:0001003", + "UBERON:0010740", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0002267", + "HP:0012622", + "UPHENO:0031276", + "UPHENO:0034351", + "UPHENO:0084654", + "UBERON:0006058", + "UPHENO:0002731", + "UPHENO:0002442", + "UBERON:0000915", + "UBERON:0011249", + "UPHENO:0002386", + "CHEBI:33917", + "UBERON:0004375", + "UPHENO:0068491", + "CHEBI:36360", + "BFO:0000020", + "UBERON:0000916", + "MPATH:1000", + "CHEBI:33302", + "UPHENO:0002269", + "UBERON:8450002", + "UBERON:0006314", + "UPHENO:0002406", + "BFO:0000040", + "UPHENO:0082834", + "UBERON:0015212", + "HP:0012211", + "UBERON:0004770", + "UBERON:0001015", + "UPHENO:0003088", + "UPHENO:0002530", + "UPHENO:0001002", + "UBERON:0000978", "HP:0100529", - "CHEBI:35352", - "UPHENO:0051686", - "UPHENO:0001005", - "GO:0044281", - "UBERON:0001088", - "CHEBI:33318", - "CHEBI:24431", + "UPHENO:0002963", + "UPHENO:0075902", + "UPHENO:0066739", + "HP:0100491", + "UPHENO:0002642", + "UPHENO:0001001", + "UPHENO:3000004", + "UPHENO:0002427", "HP:0003111", - "UBERON:0001062", + "CHEBI:24431", + "UPHENO:0002246", + "UPHENO:0002526", + "UPHENO:0004536", + "HP:0006487", + "HP:0012575", + "UPHENO:0002360", + "UBERON:0000026", + "UBERON:0000179", + "BFO:0000004", + "UBERON:0001285", + "UBERON:0013701", + "UPHENO:0002909", + "UPHENO:0002976", + "CHEBI:37577", + "UBERON:0000062", + "UBERON:0000489", + "CHEBI:33582", + "UBERON:0000465", + "HP:0000119", + "UBERON:0002101", + "UPHENO:0002964", + "HP:0020129", + "UPHENO:0046348", + "HP:0006530", + "HP:0034669", "UPHENO:0051763", + "UPHENO:0003049", "GO:0008150", - "UPHENO:0068064", - "CHEBI:72695", - "HP:0011849", - "UPHENO:0048707", - "UPHENO:0051847", + "GO:0032501", + "HP:0000083", + "UBERON:0005172", + "HP:0011277", + "UPHENO:3000003", + "BFO:0000002", + "UPHENO:0002643", + "HP:0001942", + "UPHENO:0076740", + "UPHENO:0076294", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0000072", + "UBERON:0000061", "UBERON:0005177", - "UPHENO:0068533", - "CHEBI:47042", "UBERON:0005173", - "UPHENO:0068495", - "CHEBI:16646", - "HP:0000124", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", - "HP:0003165", - "UBERON:0001285", - "UBERON:0013701", + "UPHENO:0031302", + "CHEBI:23367", + "UBERON:0003657", + "UPHENO:0002308", + "HP:0005576", + "UBERON:0001005", "UBERON:0009569", - "CHEBI:24651", - "BFO:0000001", - "CHEBI:35341", - "CHEBI:36853", - "UBERON:0004819", - "UBERON:0000483", - "UBERON:0004122", - "HP:0010935", - "UPHENO:0076285", - "UBERON:0015212", - "HP:0012211", - "HP:0033331", - "UBERON:0006555", - "UPHENO:0024906", - "UPHENO:0002411", - "UPHENO:0051864", - "UBERON:0000916", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0009773", - "UPHENO:0052038", - "UBERON:0005172", - "UBERON:0002390", + "UPHENO:0002525", + "UPHENO:0002870", + "UBERON:0001009", + "UPHENO:0003094", + "HP:0003774", + "UPHENO:0031271", "HP:0001992", - "HP:0003117", + "UBERON:0002390", "UPHENO:0051709", "UBERON:0010000", - "UPHENO:0066943", - "UBERON:0000479", + "HP:0010935", + "UPHENO:0002783", + "UBERON:0004122", + "UPHENO:0082875", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0003086", + "UPHENO:0049904", + "UPHENO:0002559", + "HP:0000001", + "UBERON:0011216", + "UBERON:0005178", + "CHEBI:32988", + "UPHENO:0081581", + "UBERON:0004111", + "HP:0032263", + "UPHENO:0046284", + "UPHENO:0002426", + "UPHENO:0002377", + "UBERON:0004120", + "HP:0004349", + "UPHENO:0002861", + "UPHENO:0002554", + "BFO:0000001", + "CHEBI:78616", + "HP:0000077", + "UPHENO:0068565", + "UPHENO:0002750", + "UPHENO:0068110", + "UBERON:0003103", + "CHEBI:36357", + "CHEBI:33259", + "UPHENO:0002600", + "CHEBI:24870", + "UBERON:0000064", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", + "UBERON:0004769", + "CHEBI:26082", + "UPHENO:0031122", + "UPHENO:0002679", + "UBERON:0005913", + "HP:0002795", + "GO:0042592", + "UBERON:0034925", + "UBERON:0005181", + "UBERON:0002075", + "HP:0002086", + "GO:0001503", + "HP:0032180", + "UBERON:0000065", + "UBERON:0004119", + "UBERON:0000170", + "UBERON:0008784", + "UPHENO:0031142", + "HP:0002981", + "UPHENO:0002411", + "UPHENO:0003084", + "UBERON:0004905", + "PATO:0000001", + "HP:0002088", + "UBERON:0001062", + "UPHENO:0002574", + "UBERON:0010363", + "UPHENO:0002885", + "UPHENO:0002536", + "UPHENO:0076692", + "UBERON:0000171", + "UPHENO:0002448", + "UPHENO:0076299", + "UPHENO:0034253", + "UBERON:0010712", + "UBERON:0002048", + "UBERON:0001558", "UBERON:0000475", - "UPHENO:0076293", - "HP:0032245", - "HP:0002757", - "HP:0002659", - "HP:0011843", + "UPHENO:0087433", + "HP:0002206", + "UBERON:0001004", + "UPHENO:0086908", "UBERON:0002204", - "UPHENO:0081440", - "HP:0032943", + "UPHENO:0002754", + "HP:0012252", + "HP:0003076", + "UBERON:0013522", + "UBERON:0010538", + "UBERON:0000174", + "HP:0000924", + "HP:0003330", + "UPHENO:0041610", + "HP:0004348", + "UPHENO:0076703", + "UBERON:0011143", + "UPHENO:0002816", + "UBERON:0000467", + "UBERON:0004765", + "UBERON:0001434", + "HP:0001941", + "UPHENO:0051804", + "HP:0004912", "UPHENO:0002832", "UPHENO:0002803", "HP:0002748", - "HP:0000938", - "UPHENO:0049723", - "CHEBI:22984", - "UBERON:0000463", - "CHEBI:26020", - "HP:0040156", - "CHEBI:25367", - "CHEBI:33285", - "UBERON:0000465", - "CHEBI:33582", - "HP:0031980", - "CHEBI:33559", - "UPHENO:0051930", - "HP:0003355", - "UPHENO:0068144", - "CHEBI:33608", - "UPHENO:0046286", - "UPHENO:0001002", - "HP:0100511", - "UPHENO:0082540", - "UPHENO:0076289", - "HP:0012072", - "UPHENO:0046281", - "UPHENO:0076287", - "CHEBI:25806", - "CHEBI:36962", - "CHEBI:50860", - "UPHENO:0079534", - "UPHENO:0051900", - "UPHENO:0051739", - "UBERON:0003914", - "UPHENO:0079536", - "CHEBI:64709", - "UPHENO:0068058", - "UPHENO:0068313", - "CHEBI:33674", - "CHEBI:36587", - "UPHENO:0068384", - "UBERON:0001008", - "CHEBI:24833", - "HP:0000002", - "HP:0002157", - "HP:0033354", - "CHEBI:33521", - "UPHENO:0082541", - "CHEBI:36586", - "UPHENO:0051612", - "UPHENO:0068089", - "UPHENO:0051670", - "CHEBI:33575", - "CHEBI:50047", - "UPHENO:0068251", - "GO:0008202", - "UPHENO:0082834", - "GO:0042359", - "UPHENO:0068102", - "UPHENO:0000543", - "HP:0003076", - "CHEBI:27300", - "GO:0006629", - "GO:1901615", - "UBERON:0000178", - "GO:0006766", - "UPHENO:0001001", - "GO:0044238", - "UPHENO:0081423", - "UPHENO:0002642", - "HP:0002909", - "UBERON:0015203", - "UPHENO:0051712", - "UPHENO:0086128", - "UPHENO:0049587", - "CHEBI:33595", - "CHEBI:18059", - "UPHENO:0048711", + "UBERON:0004708", + "HP:0011849", + "UBERON:0034921", + "HP:0011842", + "UPHENO:0084653", + "UPHENO:0051635", + "UPHENO:0003095", + "UBERON:0000383", + "UPHENO:0082835", + "HP:0001367", + "UPHENO:0003015", + "UPHENO:0004507", + "UBERON:0002113", + "UPHENO:0002585", + "UPHENO:0076727", + "UPHENO:0002632", + "UBERON:0002103", + "UPHENO:0080658", + "UBERON:0002495", + "UPHENO:0002785", + "HP:0000079", + "UBERON:0002513", + "UPHENO:0002634", + "UBERON:0002529", + "UPHENO:0041536", + "UPHENO:0041098", + "HP:0033127", + "UPHENO:0086635", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UBERON:0006555", + "UPHENO:0086780", + "UPHENO:0086956", + "UBERON:0010709", + "UBERON:0000483", + "UPHENO:0002944", + "HP:0002979", + "UBERON:0002471", + "HP:0030878", + "UPHENO:0041573", + "HP:0040068", + "UPHENO:0075952", + "UPHENO:0002945", + "UPHENO:0031318", + "UBERON:0011582", + "UPHENO:0002568", + "UBERON:0015061", + "UPHENO:0041258", + "UBERON:0001465", + "HP:0001995", + "UBERON:0003823", + "HP:6000531", + "UPHENO:0003066", + "UPHENO:0088582", + "UBERON:0000982", + "HP:0011314", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "HP:0002857", ], "has_phenotype_closure_label": [ - "alkaline earth metal atom", - "Hypercalciuria", - "s-block element atom", - "main group element atom", - "increased level of calcium atom in independent continuant", - "Abnormality of urine calcium concentration", - "abnormal calcium atom level", - "atom", - "Renal insufficiency", - "non-functional kidney", - "Abnormal glomerular filtration rate", - "Decreased glomerular filtration rate", - "Pain", - "Constitutional symptom", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the independent continuant", - "delayed growth", - "Growth delay", - "growth", - "abnormal urine calcium atom level", - "decreased size of the anatomical entity in the independent continuant", - "metal atom", - "abnormality of anatomical entity height", - "Growth abnormality", - "Hyperproteinemia", - "Abnormal circulating nitrogen compound concentration", - "increased level of protein", - "Abnormal circulating organic amino compound concentration", - "protein", - "increased level of parathyroid hormone in independent continuant", - "calcium atom", - "increased blood serum role level", - "increased level of chemical entity in blood serum", - "abnormal blood serum chemical entity level", - "Elevated circulating parathyroid hormone level", - "parathyroid hormone", - "increased level of nitrogen molecular entity in blood", - "abnormal independent continuant protein level", - "abnormal role blood serum level", - "blood serum", - "increased level of protein in blood", - "Alkalosis", - "blood plasma", - "increased level of calcium atom in urine", - "abnormal blood protein polypeptide chain level", - "abnormal blood parathyroid hormone level", - "Acute phase response", - "abnormal acid bodily fluid level", - "Abnormality of acid-base homeostasis", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", + "Abnormality of the vasculature", + "Abnormal systemic blood pressure", + "anatomical cluster phenotype", + "anatomical cluster", + "Hypertension", + "disconnected anatomical group", + "cardiovascular system", + "cardiovascular system physiology phenotype", + "kidney morphology phenotype", + "excretory tube", + "Renal fibrosis", + "Abnormal renal insterstitial morphology", + "kidney epithelium morphology phenotype", + "Abnormal renal morphology", + "Abnormal nephron morphology", + "nephron morphology phenotype", + "Increased blood pressure", + "Tubulointerstitial fibrosis", + "renal tubule", + "uriniferous tubule", + "nephron epithelium", + "s-block molecular entity", + "molecule", + "amino acid level phenotype", + "Abnormal urine amino acid level", + "hydroxides", + "organic molecule", + "oxoacid", + "increased level of organic acid in urine", + "renal system morphology phenotype", + "amino acid", + "increased level of carboxylic acid in urine", + "carbon oxoacid", + "carbonyl compound", + "carboxylic acid", + "urine amino acid level phenotype", + "Neoplasm", + "Neoplasm of the respiratory system", + "neoplasm phenotype", + "pathological process", + "Emphysema", + "tissue specific degenerative process", + "blood vasculature", + "pathological phenotype observation", + "Lung adenocarcinoma", "increased level of monosaccharide in urine", - "abnormal urine glucose level", - "aldohexose", - "glucose", - "aldose", "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", "monosaccharide", - "peptide", + "urine glucose level phenotype", + "carbohydrates and carbohydrate derivatives", "macromolecule", - "increased level of protein polypeptide chain in urine", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "abnormal independent continuant protein polypeptide chain level", - "abnormal lipid level", - "Abnormality of vitamin metabolism", - "calcitriol", - "increased level of chemical entity in blood", + "vascular system", + "increased level of chemical entity in urine", + "carbon group molecular entity", + "organic molecular entity", + "nitrogen molecular entity", + "peptide", + "organic oxo compound", + "excreta", + "organooxygen compound", + "heteroorganic entity", "Abnormal urine protein level", - "abnormal hormone blood level", - "increased blood role level", - "abnormal vitamin D metabolic process", - "increased level of parathyroid hormone in blood", - "hydroxy steroid", - "abnormal vitamin D level", - "vitamin D metabolic process", - "steroid metabolic process", - "abnormal hormone independent continuant level", - "Abnormal circulating hormone concentration", - "trunk region element", - "Renal tubular dysfunction", - "abnormal homeostatic process", - "abnormal monoatomic ion homeostasis", - "Abnormality of metabolism/homeostasis", - "non-functional anatomical entity", - "Osteopenia", - "abnormal role blood level", - "main body axis", - "Abnormal circulating calcium-phosphate regulating hormone concentration", - "seco-steroid", - "bodily fluid", - "abnormal urine phosphate level", - "abdomen element", - "Hypophosphatemia", - "monoatomic ion", - "abnormal blood chemical entity level", - "monoatomic entity", - "abnormal acid independent continuant level", + "increased urine role level", + "increased level of chemical entity", + "urine", + "organic amino compound", + "role urine level phenotype", + "oxygen molecular entity", + "urine chemical entity level phenotype", + "organism subdivision, curved phenotype", + "long bone phenotype", + "limb morphology phenotype", + "nephron tubule", + "Abnormal renal tubule morphology", + "hydrogen molecular entity", + "endochondral bone phenotype", + "bone of appendage girdle complex phenotype", + "hindlimb morphology phenotype", + "Abnormality of the calf", + "aldohexose", + "zone of organ", + "subdivision of organism along appendicular axis, curved phenotype", + "Abnormality of limbs", + "organism subdivision phenotype", + "appendicular skeleton", + "limb skeleton subdivision", + "appendicular skeletal system", + "endochondral element", + "epithelium", + "system", + "limb endochondral element phenotype", + "appendage girdle complex", + "lower limb segment, curved phenotype", + "pelvic complex", + "multi-limb segment region phenotype", + "endochondral element phenotype", + "blood vessel", + "multi-limb segment region", + "skeletal joint phenotype", + "Bowing of the long bones", + "shape hindlimb zeugopod", "decreased level of chemical entity in blood", - "phenotype by ontology source", - "abnormal blood plasma chemical entity level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "organism substance", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "blood monoatomic ion level phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "trunk", + "hindlimb joint", + "amide", + "Abnormality of limb bone", + "chemical entity level phenotype", + "trunk region element", + "phosphorus molecular entity", "primary amide", + "limb bone morphology phenotype", "elemental molecular entity", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", - "skeletal system", - "phosphate ion homeostasis", - "decreased size of the anatomical entity", - "blood", - "abnormal size of multicellular organism", - "bone element", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "abnormal anatomical entity mass density", - "epithelium", - "abnormal protein level", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "Alkalemia", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "increased blood serum base level", - "abnormal blood phosphate level", - "multicellular organismal process", - "organ part", - "abnormal bone element mass density", - "chemical homeostasis", - "glandular system", - "primary metabolic process", - "skeletal element", - "cavitated compound organ", - "increased level of lipid in blood", - "uriniferous tubule", - "anatomical entity", - "material entity", - "organic amino compound", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "increased bodily fluid base level", - "increased level of glucose in urine", - "body proper", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "Elevated urinary carboxylic acid", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "increased level of monosaccharide in independent continuant", - "D3 vitamins", - "multicellular anatomical structure", + "main group molecular entity", "haemolymphatic fluid", - "abnormal skeletal system", - "abnormal blood nitrogen molecular entity level", - "increased level of lipid", - "organic hydroxy compound metabolic process", - "Bone pain", - "Abnormality of the upper urinary tract", - "vitamin D", - "abnormal small molecule metabolic process", - "abnormal renal system", - "abnormal multicellular organism chemical entity level", - "phosphate", - "non-connected functional system", - "Azotemia", - "abnormal blood monoatomic ion level", - "Abnormal urine metabolite level", + "organochalcogen compound", + "Abnormal homeostasis", + "homeostatic process", + "Abnormal respiratory system physiology", + "cardiovascular system phenotype", + "Abnormality of acid-base homeostasis", + "tube", + "Metabolic acidosis", + "ion", + "chemical entity", + "Hyperchloremic metabolic acidosis", + "zone of long bone", + "mesoderm-derived structure phenotype", + "organonitrogen compound", + "appendage", + "anatomical entity phenotype", + "bone element", + "Acidosis", + "upper urinary tract phenotype", + "organism substance", "process", - "abnormal role independent continuant level", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "hydroxycalciol", - "Abnormality of the urinary system physiology", - "All", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "Abnormal circulating lipid concentration", + "homeostatic process phenotype", + "Abnormal knee morphology", + "trunk region element physiology phenotype", + "viscus", + "articulation", + "skeletal joint morphology phenotype", + "kidney", + "subdivision of skeleton", + "endochondral bone", + "Abnormal tubulointerstitial morphology", + "Abnormality of urine homeostasis", + "upper urinary tract", + "Genu valgum", + "process of degenerative change", + "lower limb segment phenotype", + "organ phenotype", + "lung fibrosis", + "hematopoietic system phenotype", + "Abnormal limb bone morphology", + "blood chemical entity level phenotype", + "mesoderm-derived structure", + "Stage 5 chronic kidney disease", + "Aciduria", + "Abnormality of the urinary system", + "anatomical entity morphology in the pelvic complex phenotype", + "abdomen element phenotype", + "circulatory system", + "long bone morphology phenotype", + "excretory system", + "main body axis", + "organism subdivision", + "limb segment phenotype", + "bone of appendage girdle complex", + "multicellular anatomical structure phenotype", + "skeletal system", + "subdivision of trunk", + "monoatomic entity", + "Abnormality of the lower limb", + "paired limb/fin segment, curved phenotype", + "blood", + "subdivision of organism along main body axis", + "Bowing of the legs", + "Abnormality of the skeletal system", + "lung", + "skeletal system morphology phenotype", + "carbohydrate", + "biological_process", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "limb bone phenotype", + "Hypophosphatemia", + "articular system", + "material entity", + "increased level of glucose in urine", + "nitrogen molecular entity level phenotype", + "Decreased DLCO", + "blood phosphate level phenotype", + "body proper", + "biological_process phenotype", + "abdominal segment element phenotype", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", "Phenotypic abnormality", - "information biomacromolecule", "Glycosuria", "Abnormal bone ossification", "abdominal segment element", - "pnictogen molecular entity", - "hematopoietic system", - "multicellular organism", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "increased level of parathyroid hormone in blood serum", - "Abnormal circulating protein concentration", + "Renal insufficiency", + "hindlimb zeugopod phenotype", + "respiration organ phenotype", + "anatomical structure", + "hindlimb zeugopod morphology phenotype", + "anatomical conduit", + "musculature", + "polypeptide", + "Abnormality of bone mineral density", + "phosphate level phenotype", + "Proteinuria", + "material anatomical entity, curved phenotype", + "protein-containing material entity", + "hindlimb", + "Abnormality of the upper urinary tract", + "phosphate", + "thoracic segment organ phenotype", + "subdivision of skeletal system", "entity", - "abnormal blood lipid level", - "monoatomic ion homeostasis", - "abnormal urine chemical entity level", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "emphysema", + "lateral structure phenotype", + "polyatomic entity", + "Chronic kidney disease", + "material anatomical entity", + "posterior region of body", + "multicellular anatomical structure", + "lung morphology phenotype", + "kidney physiology phenotype", + "respiratory tract", + "organ system subdivision phenotype", + "chalcogen molecular entity", + "Abnormal renal physiology", + "Abnormality of the kidney", + "limb segment, curved phenotype", + "trunk region element phenotype", + "lateral structure", + "abdomen element", "protein polypeptide chain", "continuant", - "nephron", - "amino acid chain", + "Abnormality of metabolism/homeostasis", + "anatomical entity fibrosis", + "specifically dependent continuant", + "abdominal segment element physiology phenotype", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "zeugopod", + "skeletal element", + "organ physiology phenotype", + "phenotypic effect", + "zeugopod, curved phenotype", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "oxoacid derivative", + "compound organ physiology phenotype", + "paired limb/fin segment phenotype", "tissue", - "biomacromolecule", - "p-block molecular entity", - "triol", - "increased level of amino acid in independent continuant", - "homeostatic process", - "Abnormal homeostasis", - "Increased susceptibility to fractures", - "organochalcogen compound", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "carbon oxoacid", - "Organic aciduria", - "Abnormal metabolism", - "increased level of calcitriol in independent continuant", - "abnormal upper urinary tract", - "musculoskeletal system", - "fat-soluble vitamin metabolic process", - "hydrogen molecular entity", - "nephron tubule", - "Abnormality of vitamin D metabolism", - "increased level of protein in independent continuant", + "anatomical system physiology phenotype", + "bodily fluid", + "thoracic cavity element phenotype", + "material anatomical entity phenotype", + "renal/urinary system phenotype", + "anatomical entity", + "independent continuant", + "increased level of amino acid in urine", + "compound organ phenotype", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "Abnormal cardiovascular system physiology", + "taxon specific phenotype", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "anatomical entity physiology phenotype", + "zone of bone organ", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", "renal system", "phenotype", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "Hyperlipidemia", - "genitourinary system", - "organic cyclic compound", + "Hyperchloremic acidosis", "Abnormal bone structure", - "anatomical system", - "chemical entity", - "polyol", - "increased independent continuant acid level", - "subdivision of organism along main body axis", - "small molecule metabolic process", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", + "bone of free limb or fin phenotype", + "anatomical structure phenotype", + "appendicular skeleton morphology phenotype", "occurrent", "organ", - "delayed biological_process", - "Osteomalacia", - "oxoacid", - "abnormal independent continuant chemical entity level", - "carbon group molecular entity", - "metabolic process", - "oxoacid derivative", - "trunk", - "abnormality of musculoskeletal system physiology", - "abnormal role bodily fluid level", - "abnormal biological_process", - "Recurrent fractures", - "carbonyl compound", - "abnormal chemical entity level", - "polyatomic entity", - "abnormal chemical homeostasis", + "nephron", + "curved long bone", + "renal system physiology phenotype", + "kidney epithelium", + "Abnormal blood phosphate concentration", + "compound organ", + "phosphorus oxoacids and derivatives", + "shape long bone", + "anatomical system phenotype", + "musculature phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "abdominal segment of trunk", + "abdomen", "Aminoaciduria", "organ system subdivision", - "abnormal genitourinary system", - "heteroatomic molecular entity", - "decreased level of phosphate in independent continuant", - "Abnormal skeletal morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "urine", - "abnormality of renal system physiology", - "quality", + "material anatomical entity physiology phenotype", + "Neoplasm of the lung", "phosphoric acid derivative", - "abnormal growth", - "independent continuant", - "ion", - "organic cyclic compound metabolic process", - "abnormality of kidney physiology", - "main group molecular entity", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "increased level of lipid in independent continuant", - "Proximal tubulopathy", - "organism subdivision", - "abnormal kidney", - "abdomen", - "abdominal segment of trunk", - "excretory tube", - "Abnormal blood phosphate concentration", - "phosphorus oxoacids and derivatives", - "kidney epithelium", - "compound organ", + "quality", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "Neoplasm by anatomical site", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "cell and tissue damage process", + "skeleton", + "Abnormality on pulmonary function testing", + "leg phenotype", + "proximo-distal subdivision of respiratory tract", + "hematopoietic system", + "multicellular organism", + "thoracic cavity element", + "All", + "anatomical collection", + "thoracic segment organ", + "vessel", + "diaphysis", + "lower respiratory tract", + "lung phenotype", + "articulation phenotype", + "pelvic appendage", + "endoderm-derived structure", + "pair of lungs", + "respiration organ", + "shape of continuant phenotype", + "Abnormal DLCO", + "anatomical entity morphology phenotype", + "subdivision of organism along appendicular axis", + "thoracic segment of trunk", + "metabolic process", + "endoderm-derived structure phenotype", + "respiratory system phenotype", + "Pulmonary fibrosis", + "anatomical entity morphology in the respiratory system phenotype", + "organ part", + "multicellular organismal process", "epithelial tube", - "lateral structure", - "Abnormality of urine homeostasis", - "upper urinary tract", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "Renal phosphate wasting", - "abnormal endocrine system", - "kidney", - "tube", - "Abnormal musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", - "nephron epithelium", - "hemolymphoid system", - "Rickets", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "carboxylic acid", - "increased level of chemical entity in independent continuant", + "respiratory system", + "Abnormal pulmonary interstitial morphology", + "skeleton of limb", + "knee morphology phenotype", + "respiratory airway", + "subdivision of tube", + "renal system phenotype", + "respiratory system physiology phenotype", + "viscus phenotype", + "anatomical entity mass density phenotype", + "Abnormality of the musculoskeletal system", + "Abnormal skeletal morphology", + "Decreased bone element mass density", "Abnormal urine pH", - "increased level of amino acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "organic polycyclic compound", - "Abnormal renal physiology", - "chalcogen molecular entity", - "abnormal urine amino acid level", - "nitrogen molecular entity", - "increased independent continuant hormone level", - "protein-containing molecular entity", - "increased level of vitamin D", - "Abnormal circulating organic compound concentration", - "High serum calcitriol", - "organic substance metabolic process", - "increased level of chemical entity", - "carboxamide", - "Generalized aminoaciduria", - "Short stature", - "abnormally decreased functionality of the anatomical entity", - "endocrine system", - "organonitrogen compound", - "organooxygen compound", - "heteroorganic entity", + "bone element phenotype", + "musculature of body", + "skeletal element phenotype", + "curved anatomical entity", + "skeletal system phenotype", + "lower limb segment", + "Reduced bone mineral density", + "bone element mass density phenotype", + "organic acid", "Abnormal circulating metabolite concentration", "ossification", - "organic acid", - "Abnormal urine phosphate concentration", - "increased level of carboxylic acid in urine", - "abnormal metabolic process", - "excreta", - "organic oxo compound", - "increased level of organic molecular entity in independent continuant", - "increased level of chemical entity in blood plasma", - "s-block molecular entity", - "organic molecule", - "Abnormality of the urinary system", - "Aciduria", - "hydroxides", - "increased level of organic acid in urine", - "increased level of nitrogen molecular entity in independent continuant", - "increased independent continuant base level", - "oxygen molecular entity", - "organic molecular entity", - "increased independent continuant role level", - "molecule", - "amino acid", - "abnormality of multicellular organism height", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "increased level of organic acid in independent continuant", - "increased level of carboxylic acid in independent continuant", - "abnormal role urine level", - "hydroxy seco-steroid", - "lipid metabolic process", - "vitamin metabolic process", - "disconnected anatomical group", - "Abnormality of the kidney", - "abnormal lipid metabolic process", - "Abnormality of the endocrine system", - "material anatomical entity", - "lipid", - "abnormal primary metabolic process", - "increased level of calcitriol in blood", - "polycyclic compound", - "carbohydrates and carbohydrate derivatives", - "organic hydroxy compound", - "steroid", - "cyclic compound", - "phosphorus molecular entity", - "abnormal independent continuant lipid level", - "abnormal independent continuant calcium atom level", - "abnormal independent continuant parathyroid hormone level", - "abnormal vitamin metabolic process", + "Abnormal respiratory system morphology", + "shape anatomical entity", + "paired limb/fin phenotype", + "curved hindlimb zeugopod", + "Abnormal appendicular skeleton morphology", + "appendage phenotype", + "knee phenotype", + "limb endochondral element", + "lateral structure physiology phenotype", + "multicellular anatomical structure, curved phenotype", + "paired limb/fin", + "multi organ part structure phenotype", + "paired limb/fin segment", + "Abnormality of the knee", + "monoatomic ion", + "leg", + "nephron tubule morphology phenotype", + "long bone", + "increased level of protein polypeptide chain in urine", + "Abnormal joint morphology", + "limb segment", + "cavitated compound organ phenotype", + "bone of free limb or fin", + "hindlimb joint phenotype", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb phenotype", + "Organic aciduria", + "Abnormal diaphysis morphology", + "anatomical structure, curved phenotype", + "hemolymphoid system", + "Rickets", + "multi organ part structure", + "vasculature phenotype", + "Non-small cell lung carcinoma", + "skeletal joint", + "organ, curved phenotype", + "skeletal element, curved phenotype", + "respiratory system morphology phenotype", + "musculoskeletal system", + "curvature anatomical entity", + "limb joint", + "limb bone", + "Hypophosphatemic rickets", + "knee", + "vasculature", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "Abnormal lung morphology", + "anatomical system", + "Abnormality of lower limb joint", + "zeugopod phenotype", + "bone element, curved phenotype", + "limb", ], - "has_phenotype_count": 17, + "has_phenotype_count": 14, "highlight": None, "score": None, }, { - "id": "MONDO:0024525", + "id": "MONDO:0014275", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", + "name": "Fanconi renotubular syndrome 3", "full_name": None, "deprecated": None, - "description": None, - "xref": ["DOID:0080757", "OMIM:134600"], + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", + "xref": ["DOID:0080759", "GARD:15991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "DeToni-Debré-Fanconi syndrome", - "FRTS1", - "Fanconi renotubular syndrome", - "Fanconi renotubular syndrome 1", - "Fanconi syndrome without cystinosis", - "Luder-Sheldon syndrome", - "adult Fanconi syndrome", - "primary Fanconi renal syndrome", - "primary Fanconi renotubular syndrome", - "renal Fanconi syndrome", + "EHHADH Fanconi syndrome", + "FRTS3", + "Fanconi renotubular syndrome 3", + "Fanconi renotubular syndrome type 3", + "Fanconi syndrome caused by mutation in EHHADH", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ "HP:0001942", - "HP:0003648", - "HP:0001324", - "HP:0002749", - "HP:0002148", - "HP:0000124", + "HP:0003259", + "HP:0001510", "HP:0003109", - "HP:0002900", "HP:0002748", - "HP:0034359", + "HP:0002979", "HP:0003076", - "HP:0003155", - "HP:0003355", + "HP:0000083", "HP:0004322", + "HP:0003355", "HP:0003126", - "HP:0000083", ], "has_phenotype_label": [ "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", - "Osteomalacia", - "Hypophosphatemia", - "Renal tubular dysfunction", + "Elevated circulating creatinine concentration", + "Growth delay", "Hyperphosphaturia", - "Hypokalemia", "Rickets", - "Impaired renal tubular reabsorption of phosphate", + "Bowing of the legs", "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", + "Renal insufficiency", "Short stature", + "Aminoaciduria", "Low-molecular-weight proteinuria", - "Renal insufficiency", ], "has_phenotype_closure": [ - "CHEBI:37622", - "UPHENO:0068247", - "UPHENO:0068565", + "HP:0000093", "CHEBI:16541", - "CHEBI:32988", - "CHEBI:15841", "CHEBI:16670", - "UPHENO:0020584", - "GO:0040007", - "UPHENO:0049874", - "UPHENO:0081424", - "UPHENO:0000541", - "UPHENO:0069254", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0075159", - "UPHENO:0051670", - "CHEBI:35605", - "CHEBI:36587", - "UPHENO:0068538", - "UPHENO:0068040", - "UPHENO:0068169", + "CHEBI:15841", "HP:0003355", - "CHEBI:24651", - "CHEBI:33575", - "UPHENO:0068495", + "CHEBI:33674", "UPHENO:0046286", - "CHEBI:33608", - "UPHENO:0068144", - "UPHENO:0068091", + "UPHENO:0068169", "HP:0031980", - "CHEBI:33709", "CHEBI:50047", - "HP:0004379", - "UPHENO:0081777", + "CHEBI:33575", + "HP:0032943", + "CHEBI:33709", + "CHEBI:24651", + "CHEBI:36586", + "HP:0012072", + "UPHENO:0075195", + "UPHENO:0069327", "UPHENO:0068971", - "CHEBI:33695", - "UPHENO:0082943", - "PR:000064867", - "CHEBI:35352", - "UPHENO:0075666", - "CHEBI:51143", - "CHEBI:33694", - "UPHENO:0046362", - "HP:0012379", - "PR:000018263", - "UPHENO:0080658", - "UPHENO:0000543", + "UPHENO:0081424", + "UPHENO:0069062", + "UPHENO:0069254", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0075159", + "UPHENO:0002386", + "UBERON:0000916", + "UBERON:0002417", + "UPHENO:0003094", + "UBERON:0005177", + "UPHENO:0002754", + "UPHENO:0002377", + "UPHENO:0002360", + "UBERON:0009569", + "UBERON:0013701", + "UPHENO:0002308", + "HP:0012211", + "UPHENO:0002422", + "UPHENO:0075902", + "UBERON:0000489", + "UBERON:0005173", + "UBERON:0011676", + "UPHENO:0003093", + "UPHENO:0002909", + "UPHENO:0002246", + "HP:0025745", + "CHEBI:18133", + "CHEBI:15693", + "UPHENO:0081544", + "CHEBI:17234", + "UPHENO:0068054", + "CHEBI:35381", + "HP:0000077", + "CHEBI:78616", + "CHEBI:36587", + "UPHENO:0089294", + "RO:0002577", + "UPHENO:0003070", + "UPHENO:0031166", + "HP:0040064", + "UPHENO:0041226", + "UBERON:0010912", + "UBERON:0000075", + "UBERON:0000475", + "UPHENO:0031220", + "UPHENO:0084767", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:3000004", + "HP:6000531", + "UPHENO:0068352", + "CHEBI:33839", + "CHEBI:26079", + "CHEBI:24833", + "UBERON:0001008", + "UPHENO:0068491", + "CHEBI:36360", + "HP:0430071", + "BFO:0000020", + "UBERON:0001088", "HP:0003076", + "UPHENO:0000543", + "UPHENO:0031302", + "CHEBI:23367", + "UPHENO:0002526", + "HP:0006487", + "PR:000050567", + "BFO:0000003", + "HP:0011844", + "UBERON:0004709", + "CHEBI:55370", + "UBERON:8450002", + "HP:0012100", "HP:0000002", "HP:0033354", - "UPHENO:0068054", - "CHEBI:33285", - "CHEBI:50860", - "CHEBI:36962", + "HP:0002157", + "UPHENO:0081423", + "UPHENO:0002642", "CHEBI:25806", - "CHEBI:18133", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", + "UBERON:0002113", + "UPHENO:0002585", + "CHEBI:50860", + "UPHENO:0079534", + "CHEBI:33661", + "UPHENO:0001002", + "HP:0004364", + "UPHENO:0078550", + "CHEBI:33675", + "UPHENO:0003005", + "CHEBI:25367", + "CHEBI:33285", + "UPHENO:0076727", + "CHEBI:36357", + "UPHENO:0051894", + "UPHENO:0086956", + "UPHENO:0000541", + "UPHENO:0068442", "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0051960", - "GO:0050801", - "BFO:0000003", - "HP:0002148", + "UPHENO:0046383", + "CHEBI:36962", + "UPHENO:0002830", "UPHENO:0080351", "UPHENO:0076286", - "UPHENO:0050080", - "GO:0001503", - "HP:0000118", - "UBERON:0001434", - "UBERON:0002204", - "HP:0011849", - "UPHENO:0048707", - "GO:0003008", - "HP:0004349", - "BFO:0000040", - "UPHENO:0082834", - "UPHENO:0034391", + "GO:0008152", + "UPHENO:0002385", + "HP:0001942", + "UPHENO:0002525", + "UPHENO:0002870", + "HP:0011277", + "UPHENO:0051763", + "UPHENO:0068049", + "CHEBI:51143", "HP:0004360", - "UPHENO:0002964", - "UPHENO:0082542", + "UPHENO:0002632", + "UBERON:0002103", + "CHEBI:38261", "HP:0000119", - "HP:0003330", - "HP:0034684", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "UPHENO:0082835", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", - "HP:0000093", - "GO:0055062", - "UPHENO:0034253", - "UBERON:0002417", - "CHEBI:22314", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0068292", - "UBERON:0000468", - "UBERON:0005090", - "HP:0000083", - "GO:0032501", - "HP:0011804", - "UPHENO:0052008", - "CHEBI:23367", - "UPHENO:0076289", - "HP:0001324", - "UBERON:0011216", - "CHEBI:33504", + "CHEBI:23443", + "UPHENO:0001001", + "CHEBI:16646", + "CHEBI:38304", + "CHEBI:38101", + "UPHENO:0041573", "BFO:0000004", - "UPHENO:0080352", - "UBERON:0000179", - "UPHENO:0051635", - "UBERON:0000383", - "UPHENO:0001005", - "UPHENO:0004459", - "GO:0098771", - "UPHENO:0077821", - "CHEBI:36357", - "UBERON:0001630", - "HP:0033127", - "CHEBI:33259", - "UBERON:0001088", - "UPHENO:0002442", - "PATO:0000001", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0084653", - "UPHENO:0002320", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "UPHENO:0046283", - "HP:0011277", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0051801", - "CHEBI:60911", + "CHEBI:33241", + "UBERON:0002193", + "UBERON:0000154", + "UPHENO:0068472", + "UPHENO:0041098", + "CHEBI:33832", + "UBERON:0000468", + "HP:0012591", + "HP:0001510", + "HP:0003109", + "HP:0001507", + "CHEBI:37577", + "GO:0040007", + "UPHENO:0031228", + "CHEBI:16737", + "HP:0001939", + "UPHENO:0084763", "HP:0000001", - "UPHENO:0001002", - "CHEBI:60242", - "UPHENO:0086128", - "UPHENO:0049587", - "GO:0008152", + "CHEBI:32988", + "UPHENO:0081581", + "CHEBI:24431", + "UPHENO:0049874", + "UBERON:0003823", + "HP:0001871", + "UPHENO:0002426", "UPHENO:0046284", - "HP:0004348", - "HP:0012072", - "CHEBI:36080", - "UBERON:0006314", - "UBERON:0001015", - "CHEBI:37247", - "UPHENO:0068511", - "BFO:0000002", - "HP:0001942", - "CHEBI:33238", - "UPHENO:0049628", - "UBERON:0000174", - "HP:0000924", - "BFO:0000020", - "UPHENO:0012541", - "UPHENO:0068491", - "CHEBI:36360", - "UPHENO:0001003", - "HP:0003155", - "UPHENO:0080556", - "HP:0002900", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0081550", - "UPHENO:0001001", - "CHEBI:24833", - "UBERON:0001008", - "CHEBI:33839", - "CHEBI:26079", - "GO:0042592", + "UBERON:0003103", + "UPHENO:0068110", + "UPHENO:0077817", + "HP:0000118", + "UBERON:0000178", "UPHENO:0082539", - "UPHENO:0082538", - "UBERON:0000489", + "UBERON:0004120", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0068144", + "UBERON:0010707", + "UPHENO:0002554", "BFO:0000001", - "PR:000050567", - "CHEBI:59999", - "UPHENO:0080555", - "UBERON:0000178", - "UPHENO:0068094", - "UPHENO:0081546", - "UPHENO:0051640", - "UPHENO:0051280", - "HP:0032943", - "BFO:0000015", - "GO:0008150", - "UPHENO:0051763", - "UBERON:0001062", - "CHEBI:72695", - "UPHENO:0068064", - "HP:0001939", - "CHEBI:35381", - "CHEBI:64709", - "UBERON:0003914", - "UPHENO:0079536", - "UPHENO:0024906", - "HP:0003011", "HP:0012337", - "HP:0002749", - "CHEBI:23906", - "UPHENO:0068089", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "UPHENO:0002536", "UPHENO:0076692", - "UBERON:0001231", - "UPHENO:0068110", - "UBERON:0003103", - "UBERON:0004111", - "GO:0070293", - "UBERON:0000062", - "UPHENO:0082875", - "UBERON:0001474", - "UBERON:0002100", - "CHEBI:28358", - "HP:0001507", - "CHEBI:37577", - "HP:0001510", - "HP:0003109", - "HP:0012591", - "HP:0000079", - "CHEBI:60004", - "CHEBI:33241", - "CHEBI:26082", - "HP:0100529", - "UPHENO:0034217", - "CHEBI:24870", - "UBERON:0000064", - "CHEBI:33675", - "UBERON:0002193", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0051937", + "UPHENO:0002536", + "HP:0001941", + "UPHENO:0051804", "UPHENO:0049904", - "UPHENO:0066739", - "UPHENO:0075902", - "CHEBI:33250", - "UBERON:0002113", + "UPHENO:0002559", + "CHEBI:5686", + "UPHENO:0002593", + "UPHENO:0089764", + "BFO:0000002", + "CHEBI:33256", + "UPHENO:0002926", + "UPHENO:0003065", + "CHEBI:33302", + "UPHENO:0002269", + "CHEBI:25693", + "UBERON:0000061", + "BFO:0000015", + "UBERON:0005055", + "UBERON:0006314", + "UPHENO:0003088", + "UBERON:0001015", + "BFO:0000040", + "UPHENO:0082834", + "UPHENO:0002861", + "HP:0004349", + "UBERON:0001062", + "PATO:0000001", + "UPHENO:0002442", + "UBERON:0000978", + "UBERON:0011249", + "CHEBI:33670", + "CHEBI:37622", + "CHEBI:24532", + "CHEBI:35352", + "UPHENO:0002963", + "UPHENO:0001003", + "CHEBI:33579", + "UBERON:0004769", + "UPHENO:0048707", + "HP:0011849", + "UPHENO:0003049", + "GO:0008150", + "UPHENO:0068064", + "CHEBI:72695", + "UPHENO:0002530", + "HP:0001992", + "UBERON:0002390", + "UBERON:0010000", + "UPHENO:0082536", "HP:0032180", - "CHEBI:25367", - "HP:0011042", - "UBERON:0004120", - "CHEBI:17234", - "GO:0048878", + "UPHENO:0081547", + "UPHENO:0002427", + "UPHENO:0077826", + "UBERON:0011216", + "UBERON:0005172", + "UPHENO:0052038", + "UBERON:0001969", + "UPHENO:0031339", + "UBERON:0013702", + "HP:0002813", + "CHEBI:33304", + "UPHENO:0068346", + "UPHENO:0049587", + "CHEBI:33595", + "UBERON:0000465", + "CHEBI:33582", + "HP:0012599", "HP:0040156", "UBERON:0000463", "CHEBI:26020", - "UPHENO:0002816", - "UBERON:0011143", - "HP:0011036", - "CHEBI:78616", - "HP:0000077", - "UBERON:0013702", - "CHEBI:33304", - "HP:0010930", - "UPHENO:0051847", - "UBERON:0005177", - "UBERON:0005173", - "CHEBI:16646", - "HP:0000124", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "GO:0003014", - "UBERON:0004819", - "UPHENO:0082543", - "UBERON:0000483", - "CHEBI:24431", - "HP:0003111", - "CHEBI:33318", - "UBERON:0004122", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "HP:0020129", + "UPHENO:0046348", + "CHEBI:36359", + "HP:0003110", "HP:0010935", - "UBERON:0015212", - "HP:0012211", - "UPHENO:0002411", - "UBERON:0000916", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0009773", - "HP:6000531", - "UPHENO:0068352", - "UBERON:0005172", - "HP:0001992", - "UBERON:0010000", - "UPHENO:0051709", - "UBERON:0002390", - "UPHENO:0066943", - "HP:0004322", - "CHEBI:26216", - "UPHENO:0049709", - "PR:000003968", - "UBERON:0000479", + "UBERON:0004122", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0001474", + "CHEBI:26082", + "UPHENO:0031122", "UPHENO:0051686", - "CHEBI:36915", - "UBERON:0000475", - "HP:0012599", - "UPHENO:0051898", - "PR:000000001", - "UPHENO:0034199", - "UBERON:0006555", - "GO:0055080", - "CHEBI:36914", - "CHEBI:36586", - "CHEBI:33521", - "UPHENO:0081544", - "CHEBI:15693", - "UPHENO:0051645", - "CHEBI:33296", - "HP:0010929", - "UPHENO:0034438", - "CHEBI:26217", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0051930", - "CHEBI:33559", - "UPHENO:0081547", - "CHEBI:25414", - "UBERON:0000061", - "CHEBI:36916", - "UPHENO:0079822", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0080659", - "CHEBI:25213", - "UPHENO:0051958", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "CHEBI:29103", + "CHEBI:64709", + "UPHENO:0002267", + "UPHENO:0002976", + "HP:0003330", + "UPHENO:0041610", + "HP:0004348", + "UBERON:0000062", + "UPHENO:0084654", + "UPHENO:0076703", + "UBERON:0011143", + "UPHENO:0002816", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0068251", + "UBERON:0004288", + "UBERON:0001434", + "HP:0000083", + "GO:0032501", + "UBERON:0002204", "HP:0003126", - "UPHENO:0002832", "UPHENO:0002803", + "UPHENO:0002832", "HP:0002748", - "UPHENO:0051191", - "HP:0034359", - "UBERON:0000465", - "CHEBI:33582", + "UBERON:0004708", + "HP:0011842", + "UPHENO:0084653", + "UPHENO:0082835", + "UPHENO:0031271", + "UBERON:0010740", + "UPHENO:0080658", + "UBERON:0002495", + "UPHENO:0002785", + "HP:0000079", + "UBERON:0002513", + "UBERON:0002529", + "UPHENO:0041536", + "GO:0042592", + "UBERON:0034925", + "UBERON:0000064", + "UPHENO:0031123", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0000026", + "UPHENO:0068565", + "UPHENO:0002750", + "UBERON:0010363", + "UBERON:0010538", + "UPHENO:0051630", + "UBERON:0010712", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UPHENO:0086780", + "UBERON:0010709", + "UBERON:0008784", + "UPHENO:0002983", + "UPHENO:0002944", + "HP:0002979", + "UBERON:0002471", + "HP:0040068", + "UPHENO:0075952", + "CHEBI:24995", + "UPHENO:0002945", + "UPHENO:0031318", + "UPHENO:0002600", + "UBERON:0011582", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0015061", "CHEBI:33917", - "HP:0011038", - "CHEBI:33674", - "UPHENO:0068058", + "UBERON:0004375", + "UPHENO:0051635", + "UBERON:0001977", + "UBERON:0000383", + "UPHENO:0003095", + "UPHENO:0076285", + "UBERON:0015212", + "UPHENO:0041258", + "UBERON:0005913", + "UPHENO:0004459", + "UBERON:0002428", + "HP:0011314", + "UBERON:0034944", + "UPHENO:0080300", + "UPHENO:0002896", + "UPHENO:0031323", + "UPHENO:0031276", + "CHEBI:33608", + "HP:0000940", + "HP:0003259", + "UBERON:0010758", + "UPHENO:0076740", + "UPHENO:0086628", + "UBERON:0004381", + "HP:0002814", + "UPHENO:0002411", + "HP:0002981", + "UPHENO:0031142", + "UPHENO:0002731", + "UBERON:0006058", ], "has_phenotype_closure_label": [ - "Renal insufficiency", - "non-functional kidney", - "non-functional anatomical entity", + "macromolecule", "peptide", - "increased level of protein polypeptide chain in urine", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "Low-molecular-weight proteinuria", - "abnormal independent continuant protein polypeptide chain level", - "carboxamide", "Abnormal urine protein level", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the independent continuant", - "delayed growth", - "Growth delay", - "growth", - "decreased size of the anatomical entity in the independent continuant", - "Growth abnormality", - "carboxylic acid", - "increased level of carboxylic acid in independent continuant", + "Low-molecular-weight proteinuria", + "amino acid level phenotype", + "Abnormal urine carboxylic acid level", + "Abnormal urine amino acid level", + "hydroxides", + "increased level of organic acid in urine", "amino acid", - "Elevated urinary carboxylic acid", - "increased level of organic acid in independent continuant", + "carbon oxoacid", "carbonyl compound", - "molecule", - "Organic aciduria", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of organic acid in urine", - "hydroxides", - "organic molecule", - "abnormal urine amino acid level", - "increased level of amino acid in urine", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of protein", - "protein", - "macromolecule", - "nitrogen molecular entity", - "protein-containing molecular entity", - "alkaline phosphatase, tissue-nonspecific isozyme", - "Abnormal circulating enzyme concentration or activity", "organic amino compound", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", - "increased level of monosaccharide in urine", - "organic molecular entity", - "oxygen molecular entity", - "increased level of organic molecular entity in independent continuant", - "Abnormal urine metabolite level", - "Hypophosphatemia", - "monoatomic ion", - "decreased size of the anatomical entity", - "blood", - "inorganic ion", - "pnictogen molecular entity", + "carboxylic acid", + "urine amino acid level phenotype", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", + "Short stature", "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "organism substance", - "primary amide", - "elemental molecular entity", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "abnormal renal absorption", - "skeletal system", - "abnormal size of multicellular organism", - "bone element", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "abnormal anatomical entity mass density", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "epithelium", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "abnormal monoatomic cation homeostasis", - "abnormal bone element mass density", - "decreased role independent continuant level", - "skeletal element", - "increased level of rac-lactic acid in independent continuant", - "cavitated compound organ", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "kidney", + "upper urinary tract phenotype", + "abdomen element phenotype", + "subdivision of trunk", + "main body axis", + "subdivision of organism along main body axis", + "Abnormality of the kidney", + "Renal insufficiency", + "increased level of amino acid in urine", + "compound organ phenotype", + "abdomen", + "trunk region element", + "multicellular anatomical structure physiology phenotype", + "cavitated compound organ physiology phenotype", "Abnormality of the upper urinary tract", - "musculature of body", - "monoatomic cation", - "organ part", - "Muscle weakness", - "abdominal segment of trunk", - "decreased muscle organ strength", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", - "abnormal potassium atom level", - "abnormal renal system process", - "abnormal musculature", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "abnormality of muscle organ physiology", - "urine", - "anatomical system", - "Abnormal bone structure", - "potassium(1+)", - "abnormal blood chemical entity level", - "phosphate ion homeostasis", - "racemate", - "Aminoaciduria", - "organ system subdivision", - "abnormal genitourinary system", - "abnormal chemical homeostasis", - "decreased anatomical entity strength", - "mixture", - "epithelial tube", - "chemical substance", - "chemical entity", - "increased independent continuant acid level", - "abnormal blood monoatomic ion level", - "increased bodily fluid acid level", - "process", - "All", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "increased level of amino acid in independent continuant", - "Abnormality of the musculature", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal role urine level", - "abnormal chemical entity level", - "increased level of rac-lactic acid in urine", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "abnormal urine glucose level", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "multicellular anatomical structure", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Abnormality of the genitourinary system", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", + "abdomen element", + "abdominal segment element physiology phenotype", + "kidney physiology phenotype", + "trunk region element physiology phenotype", + "increased level of monosaccharide in urine", + "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", + "monosaccharide", + "increased urine role level", + "urine glucose level phenotype", + "carbohydrates and carbohydrate derivatives", + "role urine level phenotype", + "organism subdivision, curved phenotype", + "hindlimb zeugopod phenotype", + "shape hindlimb zeugopod", + "long bone phenotype", + "limb morphology phenotype", + "hydrogen molecular entity", + "endochondral bone phenotype", + "bone of appendage girdle complex phenotype", + "hindlimb morphology phenotype", + "Abnormality of the calf", + "aldohexose", + "zone of organ", + "organism subdivision", + "renal system phenotype", + "organic molecule", + "anatomical system physiology phenotype", + "growth", + "delayed growth", + "molecule", + "mesoderm-derived structure phenotype", + "bone element", + "decreased size of the material anatomical entity", + "abdominal segment element phenotype", + "biological_process phenotype", + "material anatomical entity phenotype", + "Abnormal renal physiology", + "chalcogen molecular entity", + "homeostatic process phenotype", + "kidney phenotype", + "blood oxygen molecular entity level phenotype", + "hematopoietic system phenotype", + "Abnormal limb bone morphology", + "blood chemical entity level phenotype", + "increased level of chemical entity in blood", + "taxon specific phenotype", + "phosphate level phenotype", + "hindlimb", + "increased level of chemical entity in blood serum", + "urine", + "increased level of creatinine in blood serum", + "Azotemia", + "imidazolidinone", + "independent continuant", + "appendage girdle complex", + "lower limb segment, curved phenotype", + "urine chemical entity level phenotype", + "oxygen molecular entity", + "organic molecular entity", + "monocyclic compound", + "size of anatomical entity phenotype", + "organ physiology phenotype", + "phenotypic effect", + "long bone", + "blood creatinine level phenotype", + "phenotype", + "bone of appendage girdle complex", + "increased blood role level", + "leg", + "body proper", + "increased level of glucose in urine", + "nitrogen molecular entity level phenotype", + "organooxygen compound", + "heteroorganic entity", + "genitourinary system", + "blood organic molecular entity level phenotype", + "Phenotypic abnormality", + "Hyperphosphaturia", + "upper urinary tract", + "Abnormality of urine homeostasis", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "growth phenotype", + "shape anatomical entity", + "nitrogen molecular entity", + "Abnormal circulating organic compound concentration", + "Metabolic acidosis", + "oxoacid", + "delayed biological_process", + "limb skeleton subdivision", + "organic heteromonocyclic compound", + "metabolic process", + "Abnormality of the urinary system physiology", + "zeugopod, curved phenotype", + "lactam", + "material anatomical entity", + "bone of free limb or fin phenotype", + "anatomical structure phenotype", + "cavitated compound organ phenotype", + "bone of free limb or fin", + "blood serum chemical entity level phenotype", + "anatomical system", + "organic cyclic compound", + "Abnormal bone structure", + "trunk", + "role blood serum level phenotype", + "limb", + "chemical entity", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", "Acidosis", "material entity", - "abnormal independent continuant potassium atom level", - "protein polypeptide chain", - "continuant", - "nephron", - "amino acid chain", - "tissue", - "monoatomic ion homeostasis", - "abnormal urine chemical entity level", - "biomacromolecule", - "p-block molecular entity", - "inorganic cation", + "shape long bone", + "anatomical system phenotype", + "musculature phenotype", + "abdomen element physiology phenotype", + "anatomical structure physiology phenotype", + "imidazolidines", + "paired limb/fin segment phenotype", + "process", + "role bodily fluid level phenotype", + "blood plasma chemical entity level phenotype", + "curved hindlimb zeugopod", + "blood serum", + "posterior region of body", + "multicellular anatomical structure", + "lateral structure phenotype", + "role blood level phenotype", + "multicellular organism chemical entity level phenotype", + "carboxamide", + "endochondral element", + "organism subdivision phenotype", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "anatomical structure", + "musculature", + "polypeptide", + "Abnormality of bone mineral density", + "Bowing of the long bones", + "limb endochondral element phenotype", + "subdivision of skeletal system", + "entity", + "s-block molecular entity", + "increased level of chemical entity in blood plasma", + "Elevated circulating creatinine concentration", + "bone element mass density phenotype", + "renal/urinary system phenotype", + "anatomical entity", + "specifically dependent continuant", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "anatomical entity physiology phenotype", + "zone of bone organ", + "limb bone phenotype", + "multicellular organism phenotype", + "heteromonocyclic compound", + "haemolymphatic fluid", + "Abnormal circulating creatinine concentration", "increased level of chemical entity", - "renal absorption", + "Abnormal urinary electrolyte concentration", + "mesoderm-derived structure", + "Abnormality of acid-base homeostasis", + "anatomical entity phenotype", + "organonitrogen compound", + "appendage", "homeostatic process", - "Abnormal enzyme concentration or activity", - "organochalcogen compound", - "Abnormal muscle physiology", "Abnormal homeostasis", - "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "main group element atom", - "carbon group molecular entity", - "metabolic process", + "organochalcogen compound", + "Abnormality of metabolism/homeostasis", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in urine", + "phosphate", + "organonitrogen heterocyclic compound", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "skeleton", + "multicellular organism", + "hematopoietic system", + "Bowing of the legs", + "Abnormality of the skeletal system", + "appendicular skeleton", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "cavitated compound organ", + "subdivision of organism along appendicular axis phenotype", + "cyclic amide", + "shape of continuant phenotype", + "paired limb/fin segment", "bodily fluid", - "abnormal urine phosphate level", - "abnormal acid bodily fluid level", + "polyatomic entity", + "main group molecular entity", + "increased level of nitrogen molecular entity in blood", + "blood plasma", + "increased level of creatinine in blood", + "creatinine", + "Abnormal circulating nitrogen compound concentration", + "carbon group molecular entity", + "increased blood serum role level", + "protein polypeptide chain", + "continuant", + "organic heterocyclic compound", + "limb segment phenotype", + "compound organ", + "phosphorus oxoacids and derivatives", + "quality", + "phosphoric acid derivative", "organic oxo compound", "excreta", - "monoatomic monocation", - "Abnormality of the urinary system physiology", - "organ", - "occurrent", - "abnormal anatomical entity", - "Metabolic acidosis", - "decreased level of potassium atom in blood", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "genitourinary system", - "atom", - "muscle structure", - "material anatomical entity", - "abnormal growth", - "independent continuant", - "abnormal renal system", - "Phenotypic abnormality", - "Hyperphosphaturia", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", + "Abnormality of limbs", + "phosphorus molecular entity", + "paired limb/fin phenotype", + "compound organ physiology phenotype", + "increased level of phosphate in urine", + "oxoacid derivative", + "renal system physiology phenotype", + "urine phosphate level phenotype", + "material anatomical entity physiology phenotype", + "Abnormality of the genitourinary system", + "leg phenotype", "renal system", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "Abnormality of the urinary system", "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "abnormal role bodily fluid level", - "abnormal biological_process", - "potassium atom", - "trunk", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "abnormal protein level", + "Abnormality of the urinary system", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", + "Decreased anatomical entity mass density", + "endochondral element phenotype", + "anatomical entity mass density phenotype", + "Aminoaciduria", + "organ system subdivision", + "heterocyclic compound", + "skeletal system", "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "polyatomic entity", - "ion", - "phosphorus molecular entity", - "chemical homeostasis", - "heteroatomic molecular entity", - "abnormal acid independent continuant level", - "monoatomic entity", - "abnormal phenotype by ontology source", - "subdivision of trunk", + "organ system subdivision phenotype", + "Abnormal skeletal morphology", + "Growth abnormality", + "anatomical entity morphology phenotype", + "subdivision of organism along appendicular axis", + "appendicular skeleton morphology phenotype", + "occurrent", + "organ", + "curved long bone", + "anatomical structure, curved phenotype", + "hemolymphoid system", + "Rickets", "multicellular organismal process", - "abnormal blood phosphate level", - "organic acid", - "ossification", - "Abnormal circulating metabolite concentration", - "main body axis", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "Elevated circulating alkaline phosphatase concentration", - "abnormality of kidney physiology", - "main group molecular entity", - "haemolymphatic fluid", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "abnormal homeostatic process", - "Renal tubular dysfunction", - "trunk region element", - "musculoskeletal system", - "abnormal upper urinary tract", - "uriniferous tubule", - "subdivision of organism along main body axis", - "organism subdivision", - "hematopoietic system", - "multicellular organism", - "Impaired renal tubular reabsorption of phosphate", - "abnormal kidney", - "abdomen", - "excretory tube", - "Abnormal blood phosphate concentration", - "phosphorus oxoacids and derivatives", - "kidney epithelium", - "compound organ", + "organ part", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "Abnormal urine pH", + "bone element phenotype", + "multicellular anatomical structure phenotype", + "skeletal element", + "zeugopod", + "musculature of body", + "skeletal element phenotype", + "lower limb segment", + "trunk region element phenotype", + "limb segment, curved phenotype", + "diazolidine", + "Reduced bone mineral density", + "skeletal system morphology phenotype", + "abdominal segment of trunk", + "anatomical entity morphology in the appendage girdle complex phenotype", + "blood nitrogen molecular entity level phenotype", + "Abnormal appendicular skeleton morphology", + "anatomical entity morphology in the pelvic complex phenotype", + "limb endochondral element", + "lateral structure physiology phenotype", + "multicellular anatomical structure, curved phenotype", + "paired limb/fin", + "skeletal system phenotype", + "curved anatomical entity", "lateral structure", - "Abnormality of urine homeostasis", - "upper urinary tract", - "kidney", - "aldose", - "glucose", - "Abnormality of the kidney", - "chalcogen molecular entity", - "Abnormal renal physiology", - "nephron epithelium", - "Short stature", - "inorganic molecular entity", - "abnormally decreased functionality of the anatomical entity", - "carbohydrates and carbohydrate derivatives", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "aldohexose", - "oxoacid derivative", - "increased level of phosphate in urine", - "Abnormal blood cation concentration", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "Abnormal blood monovalent inorganic cation concentration", - "elemental potassium", - "s-block molecular entity", - "s-block element atom", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "carbon oxoacid", - "Abnormal blood potassium concentration", - "Hypokalemia", - "monoatomic cation homeostasis", - "cation", - "alkali metal atom", - "abnormal blood potassium(1+) level", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", - "musculature", - "decreased role blood level", - "hemolymphoid system", - "Rickets", - "abnormal independent continuant amino acid level", - "renal system process", - "anatomical entity", - "Abnormal renal tubular resorption", - "abnormal independent continuant chemical entity level", - "Abnormality of renal excretion", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", - "abnormal phosphate level", - "decreased level of chemical entity", - "system process", - "information biomacromolecule", - "Abnormal bone ossification", - "abdominal segment element", - "Glycosuria", - "monosaccharide", - "hexose", - "organooxygen compound", - "heteroorganic entity", - "body proper", - "increased level of glucose in urine", + "subdivision of skeleton", + "endochondral bone", + "increased level of protein polypeptide chain in urine", + "limb segment", + "zone of long bone", + "pelvic appendage", + "Abnormality of the lower limb", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb phenotype", + "Organic aciduria", + "Abnormal diaphysis morphology", + "organ, curved phenotype", + "musculoskeletal system", + "skeletal element, curved phenotype", + "curvature anatomical entity", + "All", + "anatomical collection", + "Growth delay", + "diaphysis", + "skeleton of limb", + "limb bone", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "zeugopod phenotype", + "bone element, curved phenotype", + "multi-limb segment region", + "appendage phenotype", + "hindlimb zeugopod morphology phenotype", + "cyclic compound", + "multi-limb segment region phenotype", + "chemical entity level phenotype", + "amide", + "Abnormality of limb bone", + "Proteinuria", + "protein-containing material entity", + "material anatomical entity, curved phenotype", + "pelvic complex", + "excretory system", + "long bone morphology phenotype", + "organ phenotype", + "lower limb segment phenotype", + "decreased size of the anatomical entity", + "blood", + "paired limb/fin segment, curved phenotype", + "primary amide", + "limb bone morphology phenotype", + "system", + "appendicular skeletal system", + "subdivision of organism along appendicular axis, curved phenotype", ], - "has_phenotype_count": 16, + "has_phenotype_count": 11, "highlight": None, "score": None, }, { - "id": "MONDO:0014275", + "id": "MONDO:0013247", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", + "name": "Fanconi renotubular syndrome 2", "full_name": None, "deprecated": None, - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", - "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": ["DOID:0080758", "GARD:15655", "MEDGEN:462002", "OMIM:613388", "UMLS:C3150652"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "EHHADH Fanconi syndrome", - "FRTS3", - "Fanconi renotubular syndrome 3", - "Fanconi renotubular syndrome type 3", - "Fanconi syndrome caused by mutation in EHHADH", + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0001942", - "HP:0001510", - "HP:0003259", - "HP:0003109", + "HP:0002749", + "HP:0000117", + "HP:0002148", + "HP:0000114", + "HP:0002757", "HP:0002748", - "HP:0002979", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", "HP:0003076", - "HP:0000083", + "HP:0003165", "HP:0004322", - "HP:0003355", - "HP:0003126", + "HP:0002653", + "HP:0012213", + "HP:0002150", + "HP:0000083", ], "has_phenotype_label": [ - "Metabolic acidosis", - "Growth delay", - "Elevated circulating creatinine concentration", - "Hyperphosphaturia", + "Osteomalacia", + "Renal phosphate wasting", + "Hypophosphatemia", + "Proximal tubulopathy", + "Recurrent fractures", "Rickets", - "Bowing of the legs", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", "Glycosuria", - "Renal insufficiency", + "Elevated circulating parathyroid hormone level", "Short stature", - "Aminoaciduria", - "Low-molecular-weight proteinuria", + "Bone pain", + "Decreased glomerular filtration rate", + "Hypercalciuria", + "Renal insufficiency", ], "has_phenotype_closure": [ - 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"UBERON:0004709", - "BFO:0000001", - "CHEBI:16737", - "UPHENO:0076289", - "CHEBI:25693", - "UBERON:0000061", - "BFO:0000015", - "UBERON:0005055", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0048707", + "HP:0031415", + "UPHENO:0004791", "HP:0011849", - "UBERON:0011216", - "UBERON:0005172", + "UPHENO:0048707", + "UPHENO:0082534", + "HP:0002749", + "UPHENO:0002668", + "UPHENO:0082835", + "GO:0044281", + "UBERON:0001088", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0004211", + "UPHENO:0002564", + "UBERON:0007684", + "UBERON:0009773", "UPHENO:0052038", - "UBERON:0001969", - "UBERON:0001062", - "UPHENO:0001005", - "UBERON:0000465", - "CHEBI:33582", - "UPHENO:0081547", - "HP:0012337", - "HP:0032180", - "UPHENO:0082536", - "HP:0001992", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002909", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000483", + "UPHENO:0068533", + "CHEBI:47042", + "UBERON:0005173", + "UPHENO:0066950", + "UPHENO:0066903", + "UBERON:0005177", + "UPHENO:0002210", + "HP:0012211", + "UPHENO:0076285", + "UBERON:0015212", + "UPHENO:0002411", + "HP:0004348", + "UPHENO:0002311", + "UPHENO:0002308", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0009569", + "CHEBI:24651", + "HP:0003117", "UBERON:0002390", + "UPHENO:0051709", "UBERON:0010000", - "UPHENO:0068089", - "HP:0001871", - "UPHENO:0049874", - "UBERON:0003823", - "HP:0001939", - "CHEBI:36962", - "UPHENO:0002830", - "CHEBI:64709", - "UPHENO:0079536", - "UPHENO:0080659", - "CHEBI:33579", - "UPHENO:0051668", - "CHEBI:24995", - "HP:0000924", - "UBERON:0000174", - "GO:0001503", - "HP:0020129", - "UPHENO:0046348", - "UBERON:0005177", - "UPHENO:0051847", - "UPHENO:0041258", - "CHEBI:33241", - "CHEBI:26082", - "UPHENO:0051686", - "HP:6000531", - "UPHENO:0068352", - "UPHENO:0051739", - "UPHENO:0051900", - "HP:0010935", - "UBERON:0004122", - "UBERON:0002100", + "HP:0001992", + "UPHENO:0066943", "UPHENO:0082875", + "UBERON:0002100", "UBERON:0001474", - "HP:0011277", - "HP:0012599", - "UPHENO:0081423", - "UPHENO:0002642", - "UBERON:0001088", - "UPHENO:0078554", - "UPHENO:0002332", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0084763", - "HP:0040156", - "UBERON:0000463", - "CHEBI:26020", - "UPHENO:0082835", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0068251", - "UBERON:0004288", - "UPHENO:0075696", - "HP:0011842", - "UBERON:0001434", - "HP:0000083", - "GO:0032501", - "HP:0003330", - "UPHENO:0041610", - "HP:0003126", - "UPHENO:0002803", + "UPHENO:0003430", + "CHEBI:18133", + "HP:0025745", + "UPHENO:0002360", + "UPHENO:0024906", + "CHEBI:17234", + "UPHENO:0066946", + "CHEBI:24870", + "UPHENO:0003941", + "UPHENO:0002377", + "UPHENO:0002754", + "CHEBI:36853", + "UBERON:0004819", + "UPHENO:0003094", + "HP:0012591", + "UPHENO:0066925", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0002248", + "UPHENO:0089294", + "CHEBI:36587", + "UBERON:0000916", + "UPHENO:0002386", + "UBERON:0000479", + "UPHENO:0066959", + "UPHENO:0066913", + "UBERON:0000475", + "HP:0003165", + "UBERON:0013701", + "UBERON:0001285", + "UPHENO:0046284", + "UPHENO:0002426", + "UPHENO:0002346", + "UPHENO:0068049", + "CHEBI:51143", + "UBERON:0002204", + "UPHENO:0081440", + "HP:0032943", + "HP:0032245", + "HP:0002757", + "UPHENO:0002385", + "HP:0002659", + "HP:0011843", "UPHENO:0002832", + "UPHENO:0002803", "HP:0002748", - "UBERON:0004708", - "UBERON:0002204", - "UPHENO:0068054", - "UPHENO:0020041", - "HP:0004348", - "UPHENO:0084653", - "UBERON:0000062", - "RO:0002577", - "UPHENO:0004459", - "UBERON:0002428", - "UBERON:0005913", - "UBERON:0004381", - "UPHENO:0068472", - "UBERON:0000154", - "HP:0003259", - "UBERON:0010758", + "HP:0000938", + "HP:0012072", + "UPHENO:0046281", "CHEBI:25806", - "UPHENO:0082449", - "UBERON:0000064", - "UPHENO:0086628", - "UPHENO:0077858", - "UPHENO:0080352", - "UBERON:0000179", - "UBERON:0000026", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0041226", - "HP:0002979", - "UPHENO:0082543", - "UBERON:0002471", - "CHEBI:33608", - "HP:0000940", - "UBERON:0010709", - "UPHENO:0051630", - "UPHENO:0068190", - "UBERON:0010712", + "CHEBI:33521", + "UPHENO:0082541", + "CHEBI:36586", "CHEBI:35605", - "UPHENO:0041591", - "UBERON:0002091", - "UPHENO:0031310", - "UPHENO:0020584", - "UBERON:0013702", - "CHEBI:33304", - "HP:0002813", - "UBERON:0002529", - "UPHENO:0041536", - "HP:0040068", - "UPHENO:0075952", - "UPHENO:0086780", - "UPHENO:0076285", - "UBERON:0015212", - "UBERON:0006058", - "UBERON:0010538", - "HP:0002814", - "UPHENO:0003070", - "HP:0011314", - "UBERON:0011582", - "UBERON:0010912", - "HP:0004322", - "UBERON:0015061", - "CHEBI:33917", - "UBERON:0004375", - "UBERON:0002103", - "UBERON:0034944", - "UPHENO:0080300", - "UPHENO:0002896", - "UBERON:0010740", - "UPHENO:0080658", - "UBERON:0002495", - "HP:0000079", - "UBERON:0002513", - "UPHENO:0084767", - "GO:0042592", - "UBERON:0034925", - "UBERON:0000075", - "UBERON:0000475", - "UPHENO:0068040", - "UBERON:0008784", + "CHEBI:33709", + "CHEBI:33285", + "CHEBI:25367", + "UPHENO:0002267", + "UBERON:0003914", + "CHEBI:64709", + "CHEBI:33608", + "UPHENO:0046286", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:33575", + "CHEBI:50047", + "HP:0031980", + "HP:0000002", + "HP:0002157", + "UPHENO:0066921", + "HP:0033354", + "UPHENO:0049723", + "UPHENO:0046383", + "CHEBI:22984", + "CHEBI:26020", + "UBERON:0000463", + "HP:0040156", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0002642", + "HP:0002909", + "UPHENO:0068144", + "CHEBI:33674", + "UBERON:0001008", + "CHEBI:24833", + "CHEBI:50860", + "CHEBI:36962", + "HP:0003355", ], "has_phenotype_closure_label": [ - "peptide", - "macromolecule", - "increased level of protein polypeptide chain in independent continuant", - "Low-molecular-weight proteinuria", - "abnormal independent continuant protein polypeptide chain level", - "Abnormal urine protein level", - "carboxylic acid", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "increased level of organic acid in independent continuant", - "carbon oxoacid", - "carbonyl compound", - "Abnormal urine pH", - "increased independent continuant base level", - "increased level of organic acid in urine", - "hydroxides", - "increased level of amino acid in independent continuant", - "abnormal urine amino acid level", - "hydrogen molecular entity", - "increased level of amino acid in urine", - "organic amino compound", - "abnormal amino acid level", - "abnormal size of anatomical entity", - "Abnormality of body height", - "decreased height of the multicellular organism", - "Short stature", - "decreased size of the anatomical entity in the independent continuant", - "abdomen element", - "Abnormality of the kidney", "Renal insufficiency", - "kidney", - "cavitated compound organ", - "abdominal segment of trunk", - "trunk", - "abdomen", - "abnormal kidney", - "non-functional kidney", - "non-functional anatomical entity", - "Abnormality of the upper urinary tract", - "main body axis", - "subdivision of organism along main body axis", - "trunk region element", - "increased level of glucose in independent continuant", - "abnormal role urine level", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "increased level of monosaccharide in urine", - "Abnormal urine metabolite level", - "body proper", - "increased level of glucose in urine", - "abnormal urine glucose level", - "glucose", - "aldose", - "hexose", - "organonitrogen heterocyclic compound", - "abnormal shape of continuant", - "increased level of creatinine in independent continuant", - "primary amide", - "phenotype by ontology source", + "alkaline earth metal atom", + "Abnormality of urine calcium concentration", + "increased level of calcium atom in urine", + "calcium atom level phenotype", + "metal atom", + "Hypercalciuria", + "s-block element atom", + "Abnormal glomerular filtration rate", + "Pain", + "atom", + "anatomical entity height phenotype", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", "growth", - "increased level of chemical entity in blood", - "multicellular organism", - "hematopoietic system", - "abnormality of kidney physiology", - "main group molecular entity", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "zone of bone organ", - "haemolymphatic fluid", - "heteromonocyclic compound", - "hindlimb", - "abnormal blood nitrogen molecular entity level", - "molecule", - "organic molecular entity", - "Aciduria", - "Abnormality of the urinary system", - "oxygen molecular entity", - "increased level of creatinine in blood", - "increased bodily fluid acid level", "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", + "Growth delay", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "protein", + "Elevated circulating parathyroid hormone level", + "Abnormality of the endocrine system", + "blood nitrogen molecular entity level phenotype", + "Abnormality of acid-base homeostasis", + "increased level of protein", + "Abnormal circulating organic amino compound concentration", + "blood organic amino compound level phenotype", "increased level of chemical entity in blood serum", - "urine", - "increased level of creatinine in blood serum", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", + "protein level phenotype", + "increased level of protein in blood", + "Alkalosis", "Azotemia", - "anatomical system", - "organic molecule", - "monocyclic compound", - "Abnormal bone structure", - "organic cyclic compound", - "phenotype", + "parathyroid hormone", + "Hyperproteinemia", + "Acute phase response", + "Abnormal circulating nitrogen compound concentration", + "non-connected functional system", + "Short stature", + "endocrine system", + "blood serum", + "disconnected anatomical group", + "blood plasma", "increased level of nitrogen molecular entity in blood", - "abnormal blood chemical entity level", - "imidazolidines", - "organooxygen compound", - "upper urinary tract", - "Abnormality of urine homeostasis", - "shape anatomical entity", - "Abnormal circulating creatinine concentration", - "increased level of chemical entity", - "heteroorganic entity", - "abnormal role blood serum level", + "blood protein polypeptide chain level phenotype", + "endocrine system phenotype", + "aldohexose", + "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", + "monosaccharide", + "urine glucose level phenotype", + "macromolecule", + "increased level of protein polypeptide chain in urine", + "peptide", + "Abnormal urine protein level", + "vitamin D metabolic process", + "small molecule metabolic process", + "glandular system", + "primary metabolic process", + "increased level of lipid in blood", + "blood plasma chemical entity level phenotype", + "role bodily fluid level phenotype", + "main group element atom", + "hormone blood level phenotype", + "increased level of chemical entity in blood", + "decreased height of the multicellular organism", + "organic hydroxy compound metabolic process phenotype", + "primary metabolic process phenotype", + "small molecule metabolic process phenotype", + "blood organic molecular entity level phenotype", + "carbohydrates and carbohydrate derivatives", + "organic hydroxy compound", + "polycyclic compound", + "increased blood role level", + "calcitriol", + "vitamin D", + "polyol", + "steroid metabolic process phenotype", + "steroid metabolic process", + "increased level of calcitriol in blood", + "growth phenotype", + "blood lipid level phenotype", + "vitamin metabolic process", + "increased level of lipid", + "organic hydroxy compound metabolic process", + "lipid metabolic process", + "triol", + "cyclic compound", + "steroid", + "lipid level phenotype", + "Abnormality of vitamin metabolism", + "organism substance", + "decreased level of chemical entity in blood", + "blood monoatomic ion level phenotype", + "mesoderm-derived structure phenotype", + "bone element", + "primary amide", + "elemental molecular entity", + "blood chemical entity level phenotype", + "hydroxy seco-steroid", + "hematopoietic system phenotype", + "monoatomic entity", + "subdivision of trunk", + "decreased functionality of the nephron tubule", + "Hypophosphatemia", + "monoatomic ion", + "heteroatomic molecular entity", + "excretory system", + "vitamin metabolic process phenotype", + "abdomen element phenotype", + "organic cyclic compound metabolic process", + "ion", + "biomacromolecule", + "p-block molecular entity", + "renal system physiology phenotype", + "pnictogen molecular entity", + "role blood serum level phenotype", + "trunk", + "chemical entity", + "amide", + "chemical entity level phenotype", + "trunk region element", + "Abnormal urine amino acid level", "phosphorus molecular entity", - "blood plasma", + "tissue physiology phenotype", + "Abnormality of the skeletal system", + "amino acid level phenotype", + "hydroxycalciol", + "Abnormality of the urinary system physiology", + "renal system phenotype", + "Abnormality of the urinary system", + "Aciduria", + "organic molecule", + "trunk region element physiology phenotype", + "homeostatic process phenotype", + "main group molecular entity", + "urine phosphate level phenotype", + "material anatomical entity physiology phenotype", + "polyatomic entity", "decreased size of the anatomical entity", "blood", - "imidazolidinone", - "chemical entity", - "increased independent continuant acid level", - "process", - "abnormal blood plasma chemical entity level", - "abnormal role independent continuant level", - "delayed growth", - "Abnormal circulating nitrogen compound concentration", - "carbon group molecular entity", - "abnormal independent continuant chemical entity level", - "increased blood serum role level", - "p-block molecular entity", - "Elevated urinary carboxylic acid", - "skeleton", - "abnormal independent continuant creatinine level", - "s-block molecular entity", - "increased level of chemical entity in blood plasma", - "Elevated circulating creatinine concentration", - "organism substance", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "subdivision of skeletal system", - "entity", - "Abnormal urinary electrolyte concentration", "mesoderm-derived structure", - "Abnormal circulating organic compound concentration", - "Abnormality of metabolism/homeostasis", - "abnormal role blood level", - "increased level of chemical entity in bodily fluid", - "increased level of chemical entity in urine", - "abnormal bone element mass density", + "Abnormal urinary electrolyte concentration", + "phosphate level phenotype", + "Alkalemia", + "Proteinuria", + "protein-containing material entity", "phosphate", - "abnormal multicellular organism chemical entity level", - "Hyperphosphaturia", - "Phenotypic abnormality", - "blood serum", - "increased level of chemical entity in independent continuant", - "renal system", - "Abnormality of the urinary system physiology", - "abnormal acid bodily fluid level", - "organic oxo compound", - "excreta", - "anatomical structure", - "polypeptide", - "abnormal limb", - "Abnormality of bone mineral density", - "Bowing of the long bones", - "Acidosis", - "material entity", - "long bone", - "organic heterocyclic compound", - "organism subdivision", - "organic acid", - "Abnormal circulating metabolite concentration", - "ossification", - "abnormal hindlimb zeugopod", + "lipid metabolic process phenotype", + "bone element mass density phenotype", + "amino acid", + "molecule", + "Growth abnormality", + "anatomical entity morphology phenotype", + "skeletal system phenotype", "protein polypeptide chain", "continuant", - "abnormal acid independent continuant level", - "organic heteromonocyclic compound", - "oxoacid", - "delayed biological_process", - "limb skeleton subdivision", - "abnormal blood creatinine level", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "metabolic process", - "multi-limb segment region", - "bodily fluid", - "abnormal urine phosphate level", - "Metabolic acidosis", - "multicellular anatomical structure", - "posterior region of body", - "independent continuant", - "abnormal growth", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "Abnormality of acid-base homeostasis", + "amino acid chain", + "anatomical system physiology phenotype", + "tissue", + "nephron", "Abnormal homeostasis", "organochalcogen compound", - "homeostatic process", - "abnormal hindlimb zeugopod morphology", - "appendage girdle complex", + "Increased susceptibility to fractures", + "skeletal element", + "cavitated compound organ", + "anatomical structure", + "Decreased glomerular filtration rate", + "musculature", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical conduit", + "musculoskeletal system phenotype", + "increased level of organic acid in urine", + "musculature of body", + "organic cyclic compound", + "Abnormal bone structure", + "blood serum chemical entity level phenotype", + "anatomical system", + "lipid", "material anatomical entity", - "cyclic compound", - "appendage", - "organonitrogen compound", + "Abnormal circulating protein concentration", + "increased level of parathyroid hormone in blood serum", + "entity", + "metabolic process", + "Decreased anatomical entity mass density", + "taxon specific phenotype", + "Abnormal blood ion concentration", + "Abnormality of the musculoskeletal system", + "renal/urinary system phenotype", "anatomical entity", - "increased blood role level", - "leg", - "Growth abnormality", - "polyatomic entity", - "abnormal role bodily fluid level", - "abnormal biological_process", - "lactam", - "increased independent continuant role level", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the appendage girdle complex", - "appendicular skeleton", - "carboxamide", - "endochondral element", - "creatinine", - "abnormal blood serum chemical entity level", - "occurrent", - "organ", - "curved long bone", - "cyclic amide", - "paired limb/fin segment", - "pnictogen molecular entity", - "Abnormal renal physiology", - "chalcogen molecular entity", - "abnormal urine chemical entity level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormal phosphate level", - "Abnormality of the skeletal system", - "Bowing of the legs", - "abnormal independent continuant phosphate level", - "Growth delay", - "diaphysis", - "All", - "anatomical collection", - "abnormal leg", - "abnormal renal system", - "hindlimb zeugopod", - "Abnormal long bone morphology", - "compound organ", - "phosphorus oxoacids and derivatives", - "abnormality of anatomical entity physiology", - "excretory system", - "genitourinary system", - "phosphorus oxoacid derivative", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "curvature anatomical entity in independent continuant", - "oxoacid derivative", - "increased level of phosphate in urine", - "abnormal genitourinary system", - "abnormal hindlimb morphology", + "anatomical structure phenotype", "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "increased level of phosphate in independent continuant", - "abnormal skeletal system", - "quality", - "abnormality of renal system physiology", "phosphoric acid derivative", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "diazolidine", + "quality", + "carbon oxoacid", "Reduced bone mineral density", - "heterocyclic compound", + "increased level of parathyroid hormone in blood", + "hydroxy steroid", + "renal tubule phenotype", + "nephron tubule phenotype", + "epithelial tube physiology phenotype", + "anatomical system phenotype", + "musculature phenotype", + "hematopoietic system", + "multicellular organism", + "abdominal segment element physiology phenotype", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "increased level of vitamin D", + "tissue phenotype", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "urine calcium atom level phenotype", + "process", + "size of anatomical entity phenotype", + "phenotypic effect", + "organ physiology phenotype", + "main body axis", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "anatomical conduit phenotype", + "multicellular anatomical structure phenotype", + "anatomical entity physiology phenotype", + "carboxamide", + "Generalized aminoaciduria", + "multicellular organism chemical entity level phenotype", "skeletal system", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", - "abnormal anatomical entity mass density", - "abnormal upper urinary tract", - "curvature anatomical entity", - "musculoskeletal system", - "Abnormal skeletal morphology", - "Decreased anatomical entity mass density", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "abnormal size of multicellular organism", - "bone element", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "hemolymphoid system", - "Rickets", - "abnormal independent continuant glucose level", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal hindlimb zeugopod, curved", + "lateral structure physiology phenotype", + "Abnormality of metabolism/homeostasis", + "Osteopenia", + "Renal phosphate wasting", + "kidney physiology phenotype", + "increased blood serum base level", "multicellular organismal process", "organ part", - "abnormal appendicular skeleton morphology", - "curved anatomical entity in independent continuant", - "Abnormality of the lower limb", - "Abnormality of the calf", - "abdominal segment element", - "Abnormal bone ossification", + "multicellular anatomical structure", + "specifically dependent continuant", + "organ", + "occurrent", + "haemolymphatic fluid", + "All", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "material entity", + "organic amino compound", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", + "Recurrent fractures", + "carbonyl compound", + "musculoskeletal system", + "fat-soluble vitamin metabolic process", + "hydrogen molecular entity", + "nephron tubule", + "organ system subdivision", + "Aminoaciduria", + "Abnormality of vitamin D metabolism", + "independent continuant", + "skeletal element phenotype", + "organ phenotype", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "vitamin D metabolic process phenotype", + "seco-steroid", + "bodily fluid", + "material anatomical entity phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "Abnormal circulating metabolite concentration", + "organic acid", + "ossification", + "calcium atom", + "increased blood serum role level", + "decreased functionality of the kidney epithelium", + "Phenotypic abnormality", + "information biomacromolecule", + "blood parathyroid hormone level phenotype", "Glycosuria", - "subdivision of organism along appendicular axis", - "lower limb segment", - "skeletal element", - "zeugopod", - "abnormal anatomical entity, curved", - "increased level of protein polypeptide chain in urine", - "limb segment", - "abnormal anatomical entity morphology in the independent continuant", - "aldohexose", - "zone of organ", - "amide", - "Abnormality of limb bone", - "Organic aciduria", - "Abnormal diaphysis morphology", - "abnormal limb bone morphology", - "limb bone", - "increased level of organic molecular entity in independent continuant", - "shape long bone", - "abnormal limb bone", - "skeleton of limb", - "abnormal long bone morphology", - "zone of long bone", - "pelvic appendage", - "paired limb/fin", - "pelvic complex", - "abnormal chemical entity level", - "appendicular skeletal system", - "shape anatomical entity in independent continuant", - "limb", + "Abnormal bone ossification", + "abdominal segment element", + "role blood level phenotype", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "Abnormal metabolism", + "organ system subdivision phenotype", + "epithelium phenotype", "lateral structure", - "curved hindlimb zeugopod", + "nephron epithelium", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "decreased functionality of the excretory tube", + "abdomen element", + "epithelium physiology phenotype", + "decreased functionality of the material anatomical entity", + "blood oxygen molecular entity level phenotype", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "organic molecular entity", + "epithelium", + "decreased functionality of the tube", + "Bone pain", + "Abnormality of the upper urinary tract", + "tube phenotype", + "increased bodily fluid base level", + "increased level of glucose in urine", + "blood phosphate level phenotype", + "nitrogen molecular entity level phenotype", + "body proper", + "decreased size of the material anatomical entity", + "biological_process phenotype", + "abdominal segment element phenotype", + "Constitutional symptom", + "tube physiology phenotype", + "cavitated compound organ phenotype", + "Renal tubular dysfunction", + "decreased functionality of the renal tubule", + "Abnormal circulating hormone concentration", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", + "homeostatic process", + "excretory tube physiology phenotype", + "decreased functionality of the tissue", + "Abnormal skeletal morphology", + "musculoskeletal system physiology phenotype", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "epithelial tube", + "tube", + "abdominal segment of trunk", + "urine amino acid level phenotype", + "abdomen", + "decreased level of chemical entity", + "Abnormal urine carboxylic acid level", + "decreased functionality of the anatomical conduit", + "trunk region element phenotype", + "decreased functionality of the anatomical structure", + "Abnormality of the kidney", + "excretory tube", + "oxoacid derivative", + "compound organ physiology phenotype", + "decreased functionality of the multicellular anatomical structure", + "uriniferous tubule", + "epithelial tube phenotype", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "Proximal tubulopathy", + "organism subdivision", + "D3 vitamins", + "nephron epithelium phenotype", + "decreased functionality of the epithelium", + "decreased functionality of the nephron epithelium", + "upper urinary tract phenotype", + "excretory tube phenotype", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "hemolymphoid system", + "Rickets", + "role urine level phenotype", + "carboxylic acid", + "decreased functionality of the epithelial tube", + "bone element phenotype", + "Abnormal urine pH", + "organic substance metabolic process", + "High serum calcitriol", + "increased level of chemical entity", + "increased urine role level", + "hydroxides", + "anatomical entity phenotype", + "organonitrogen compound", + "heteroorganic entity", + "organooxygen compound", + "Abnormal urine phosphate concentration", + "increased level of carboxylic acid in urine", + "excreta", + "organic oxo compound", + "multicellular organism morphology phenotype", + "Abnormal urine metabolite level", "nitrogen molecular entity", - "abnormal limb morphology", - "system", - "monosaccharide", - "subdivision of skeleton", - "endochondral bone", - "heteroatomic molecular entity", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "curved anatomical entity", - "abnormal diaphysis morphology", - "Abnormal appendicular skeleton morphology", - "carbohydrates and carbohydrate derivatives", + "urine chemical entity level phenotype", + "oxygen molecular entity", + "carbon group molecular entity", + "organic polycyclic compound", + "Abnormal renal physiology", + "chalcogen molecular entity", + "Organic aciduria", + "Elevated urinary carboxylic acid", + "metabolic process phenotype", + "compound organ phenotype", + "increased level of amino acid in urine", + "increased level of chemical entity in urine", + "vitamin D level phenotype", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in blood plasma", + "s-block molecular entity", ], - "has_phenotype_count": 11, + "has_phenotype_count": 17, "highlight": None, "score": None, }, { - "id": "MONDO:0030056", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 5", + "name": "Fanconi renotubular syndrome 1", "full_name": None, "deprecated": None, "description": None, - "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], + "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCONI RENOTUBULAR SYNDROME 5", - "FRTS5", - "Fanconi Renotubular Syndrome, Acadian Variant", - "Fanconi renotubular syndrome 5", + "DeToni-Debré-Fanconi syndrome", + "FRTS1", + "Fanconi renotubular syndrome", + "Fanconi renotubular syndrome 1", + "Fanconi syndrome without cystinosis", + "Luder-Sheldon syndrome", + "adult Fanconi syndrome", + "primary Fanconi renal syndrome", + "primary Fanconi renotubular syndrome", + "renal Fanconi syndrome", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0002857", - "HP:0045051", + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0003155", "HP:0002148", - "HP:0002206", - "HP:0004912", - 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+ "HP:0010935", + "UPHENO:0002246", + "UPHENO:0005141", + "UPHENO:0002859", + "CHEBI:78616", + "HP:0000077", + "UPHENO:0002564", + "UBERON:0007684", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002909", + "CHEBI:16646", + "HP:0000124", "UBERON:0000483", - "HP:0002979", - "UBERON:0002471", - "UPHENO:0082543", - "CHEBI:72695", - "UPHENO:0068064", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0079536", + "UBERON:0005173", + "UPHENO:0066950", + "UPHENO:0066903", + "UBERON:0005177", + "UPHENO:0002210", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", + "HP:0012211", + "UBERON:0015212", + "HP:0004348", + "UPHENO:0002311", + "UPHENO:0002308", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0009569", + "HP:0000002", + "HP:0033354", + "UPHENO:0066921", + "HP:0001992", + "UPHENO:0051709", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0066943", + "HP:0004322", + "UPHENO:0002568", + "CHEBI:26216", + "UPHENO:0082875", + "CHEBI:28358", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0003430", + "UPHENO:0002360", + "UPHENO:0024906", + "CHEBI:17234", + "UPHENO:0066946", + "CHEBI:24870", + "UPHENO:0003941", + "UPHENO:0002377", + "UPHENO:0002754", + "UBERON:0004819", + "UPHENO:0003094", + "HP:0012591", + "UPHENO:0066925", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0002248", + "UBERON:0000916", + "UPHENO:0002386", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UPHENO:0066959", + "UPHENO:0066913", + "UBERON:0000475", + "UBERON:0013701", + "UBERON:0001285", + "HP:0012599", + "UPHENO:0005201", + "HP:0010929", "UPHENO:0081547", - "HP:0012337", + "UBERON:0002113", + "CHEBI:33250", + "CHEBI:33559", + "UPHENO:0051645", + "CHEBI:36914", + "UPHENO:0079822", + "UBERON:0000061", + "CHEBI:36916", ], "has_phenotype_closure_label": [ - "Neoplasm", - "Neoplasm of the respiratory system", - "Abnormality of the vasculature", - "abnormal cardiovascular system", - "disconnected anatomical group", - "cardiovascular system", - "blood vasculature", - "Abnormal systemic blood pressure", - "Hypertension", - "Renal insufficiency", - "non-functional kidney", - "abnormal vasculature", - "Chronic kidney disease", - "Increased blood pressure", - "Tubulointerstitial fibrosis", - "Abnormal renal insterstitial morphology", - "renal tubule", - "uriniferous tubule", - "nephron epithelium", - "abdomen element", - "Abnormality of the kidney", - "excretory tube", - "cavitated compound organ", - "abdominal segment of trunk", - "abdomen", - "abnormal kidney", - "Abnormal renal morphology", - "tissue", - "anatomical cluster", - "abnormal kidney epithelium morphology", - "Abnormality of the upper urinary tract", - "Abnormal nephron morphology", - "carboxylic acid", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "increased level of organic acid in independent continuant", - "carbon oxoacid", - "carbonyl compound", + "decreased muscle organ strength", + "muscle structure physiology phenotype", + "muscle structure phenotype", + "Abnormality of the musculature", + "muscle organ physiology phenotype", + "muscle organ", + "increased level of protein polypeptide chain in urine", + "peptide", + "Abnormal urine protein level", + "Low-molecular-weight proteinuria", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", + "growth", + "growth phenotype", + "decreased height of the anatomical entity", + "Growth delay", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "s-block molecular entity", "molecule", - "Abnormal urine pH", - "abnormal nephron tubule morphology", - "increased level of organic acid in urine", + "amino acid level phenotype", + "Elevated urinary carboxylic acid", + "Organic aciduria", + "Abnormal urine amino acid level", "hydroxides", "organic molecule", - "oxoacid", - "s-block molecular entity", - "increased level of carboxylic acid in urine", - "abnormal urine amino acid level", - "Abnormal renal tubule morphology", - "nephron tubule", - "hydrogen molecular entity", - "increased level of amino acid in urine", - "abnormal amino acid level", - "Emphysema", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", + "increased level of organic acid in urine", + "amino acid", + "carbonyl compound", + "carboxylic acid", + "urine amino acid level phenotype", + "Renal insufficiency", + "aldohexose", + "hexose", "Abnormal urinary organic compound level", - "Lung adenocarcinoma", - "increased level of monosaccharide in urine", - "abnormal metabolite independent continuant level", - "abnormal urine glucose level", - "glucose", "aldose", - "hexose", + "glucose", + "organooxygen compound", "monosaccharide", - "increased level of monosaccharide in independent continuant", + "urine glucose level phenotype", "carbohydrates and carbohydrate derivatives", - "abnormal role urine level", - "vascular system", - "increased level of chemical entity in urine", - "peptide", - "urine", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", + "renal absorption", + "renal absorption phenotype", + "Abnormality of renal excretion", + "renal system process", + "cation", + "inorganic ion", + "decreased level of potassium atom in blood", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "role bodily fluid level phenotype", + "Abnormal blood monovalent inorganic cation concentration", + "potassium atom level phenotype", + "Hypophosphatemia", + "monoatomic ion", + "protein", "macromolecule", - "abnormal genitourinary system", "organic molecular entity", - "oxygen molecular entity", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "heteroatomic molecular entity", + "tube phenotype", + "increased level of glucose in urine", + "blood phosphate level phenotype", + "nitrogen molecular entity level phenotype", + "body proper", + "alkaline phosphatase, tissue-nonspecific isozyme level phenotype", + "anatomical system phenotype", + "musculature phenotype", + "organic amino compound", + "material entity", + "Abnormality of alkaline phosphatase level", + "excretory system", + "abdomen element phenotype", + "alkaline phosphatase, tissue-nonspecific isozyme", + "nephron epithelium", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "polyatomic entity", + "racemate", + "renal system physiology phenotype", + "rac-lactic acid", + "amide", + "chemical entity level phenotype", + "trunk region element", + "chemical substance", "organic oxo compound", "excreta", - "increased independent continuant base level", - "abnormal independent continuant nitrogen molecular entity level", - "increased level of protein polypeptide chain in independent continuant", - "upper urinary tract", - "Abnormal tubulointerstitial morphology", - "Abnormality of urine homeostasis", - "genitourinary system", - "Abnormal urine metabolite level", - "heteroorganic entity", - "organooxygen compound", - "abnormal renal system", - "carbon group molecular entity", - "renal system", - "abnormal independent continuant protein polypeptide chain level", - "Aciduria", "Abnormality of the urinary system", + "Aciduria", + "renal system phenotype", + "metal atom", + "Abnormality of the urinary system physiology", + "increased level of chemical entity in urine", + "increased urine role level", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "Abnormality of acid-base homeostasis", + "tube", + "Metabolic acidosis", + "chemical entity", + "Short stature", + "inorganic molecular entity", + "Acidosis", + "upper urinary tract phenotype", + "increased level of chemical entity", + "inorganic cation", + "alkali metal atom", + "bone element mass density phenotype", + "Abnormal blood cation concentration", + "Growth abnormality", + "anatomical entity morphology phenotype", + "Abnormal skeletal morphology", + "skeletal system phenotype", + "carbon group molecular entity", + "main group molecular entity", + "Elevated circulating alkaline phosphatase concentration", "protein polypeptide chain", + "system process phenotype", "continuant", - "anatomical entity", - "material entity", - "organic amino compound", - "Abnormal appendicular skeleton morphology", - "Abnormal respiratory system physiology", - "homeostatic process", - "organochalcogen compound", - "Abnormal homeostasis", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "vasculature", - "Abnormal long bone morphology", - "hindlimb zeugopod", - "bone of free limb or fin", - "hindlimb", - "leg", - "monoatomic ion", - "nitrogen molecular entity", - "abnormal limb morphology", - "increased level of amino acid in independent continuant", - "thoracic segment of trunk", - "skeletal system", - "blood", - "long bone", - "phosphate ion homeostasis", - "abdominal segment element", - "Glycosuria", - "Abnormal bone ossification", - "Non-small cell lung carcinoma", - "skeletal joint", - "abnormal limb bone morphology", - "zone of bone organ", - "appendicular skeleton", - "limb endochondral element", - "limb skeleton subdivision", - "curved anatomical entity", - "zone of long bone", - "Hyperchloremic metabolic acidosis", - "abnormality of cardiovascular system physiology", - "limb", - "Elevated urinary carboxylic acid", - "skeleton", - "Neoplasm by anatomical site", - "p-block molecular entity", - "Hypophosphatemia", - "articular system", - "endochondral bone", - "subdivision of skeleton", - "Bowing of the long bones", - "anatomical structure", - "anatomical conduit", - "shape anatomical entity in independent continuant", - "appendage girdle complex", - "abnormal hindlimb zeugopod morphology", - "organism subdivision", - "respiratory tract", - "epithelium", - "system", - "subdivision of tube", - "Abnormality of the knee", - "paired limb/fin segment", - "blood vessel", - "multi-limb segment region", - "kidney", - "articulation", - "endochondral element", - "carboxamide", - "pelvic complex", - "Abnormality of limbs", - "curvature anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "bone element", - "paired limb/fin", - "vessel", - "diaphysis", - "abnormal leg", - "abnormal renal system morphology", - "abnormal hindlimb joint", - "non-functional anatomical entity", - "thoracic segment organ", - "abnormal independent continuant glucose level", - "abnormal hindlimb zeugopod, curved", - "abnormal anatomical entity morphology in the pelvic complex", - "phenotype", - "Stage 5 chronic kidney disease", + "amino acid chain", + "anatomical system physiology phenotype", + "tissue", + "nephron", + "skeletal element", + "cavitated compound organ", "mesoderm-derived structure", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal anatomical entity, curved", - "abnormal anatomical entity morphology in the independent continuant", - "increased level of protein polypeptide chain in urine", - "Abnormal joint morphology", - "limb segment", - "organ part", - "abnormal blood phosphate level", - "multicellular organismal process", - "curved anatomical entity in independent continuant", - "Abnormality of the lower limb", - "abnormal appendicular skeleton morphology", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "abnormal upper urinary tract", - "musculoskeletal system", - "curvature anatomical entity", - "abnormal skeletal system", - "Phenotypic abnormality", - "phenotype by ontology source", - "Abnormal urine carboxylic acid level", - "abnormal phosphate level", - "decreased level of chemical entity", - "hindlimb joint", - "oxoacid derivative", - "trunk", - "organonitrogen compound", - "appendage", - "tube", - "Abnormality of acid-base homeostasis", - "Metabolic acidosis", + "Abnormal urinary electrolyte concentration", + "muscle organ phenotype", + "anatomical structure", "polypeptide", "Abnormality of bone mineral density", - "abnormal limb", + "anatomical conduit", + "Abnormal muscle physiology", + "organochalcogen compound", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "oxygen molecular entity", + "urine chemical entity level phenotype", + "Abnormality of the musculoskeletal system", + "musculature of body", + "Abnormal bone structure", + "anatomical system", + "role urine level phenotype", + "muscle structure", "material anatomical entity", - "skeleton of limb", - "Abnormal pulmonary interstitial morphology", - "nephron", - "curved long bone", - "occurrent", - "organ", - "posterior region of body", - "multicellular anatomical structure", - "subdivision of organism along appendicular axis", - "anatomical collection", - "All", - "abnormal lung morphology", - "aldohexose", - "zone of organ", - "abnormal long bone morphology", - "Abnormality of the calf", - "skeletal element", - "zeugopod", - "chemical homeostasis", - "Genu valgum", - "limb joint", - "limb bone", - "Renal fibrosis", - "abnormal hindlimb morphology", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", - "amide", - "Abnormality of limb bone", - "Abnormal respiratory system morphology", - "shape anatomical entity", - "abnormal knee morphology", - "lower limb segment", - "abnormal skeletal joint morphology", - "curved hindlimb zeugopod", - "Organic aciduria", - "Abnormal diaphysis morphology", - "Abnormal DLCO", - "increased level of organic molecular entity in independent continuant", - "abnormal limb bone", - "shape long bone", - "lung fibrosis", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "subdivision of skeletal system", "entity", - "abnormal diaphysis morphology", - "lateral structure", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal knee morphology", - "Hyperchloremic acidosis", - "Abnormal bone structure", - "Abnormal renal physiology", - "chalcogen molecular entity", - "abnormal knee", - "abnormal anatomical entity mass density", - "decreased level of chemical entity in blood", - "shape hindlimb zeugopod", - "abnormal anatomical entity", - "abnormal shape of continuant", - "independent continuant", - "epithelial tube", - "respiratory system", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "abnormality of respiratory system physiology", - "polyatomic entity", - "abnormality of anatomical entity physiology", - "abnormal respiratory system", - "Abnormality of the respiratory system", - "Abnormality of the urinary system physiology", - "abnormal blood monoatomic ion level", - "respiration organ", - "increased bodily fluid acid level", - "anatomical entity fibrosis", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "phosphorus oxoacid derivative", - "decreased level of phosphate in blood", - "primary amide", - "elemental molecular entity", - "organism substance", - "decreased level of chemical entity in independent continuant", - "Abnormal cardiovascular system physiology", - "Abnormal blood ion concentration", + "metabolic process", "Decreased anatomical entity mass density", - "inorganic ion homeostasis", + "taxon specific phenotype", + "Abnormal blood ion concentration", + "multicellular organismal process phenotype", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "main group element atom", + "Abnormal renal tubular resorption", + "renal/urinary system phenotype", + "anatomical entity", + "p-block molecular entity", + "biomacromolecule", + "Hypokalemia", + "anatomical structure phenotype", + "Abnormality of the genitourinary system", "Reduced bone mineral density", - "pnictogen molecular entity", - "abnormal chemical homeostasis", + "renal tubule phenotype", + "nephron tubule phenotype", + "Abnormality of the skeletal system", + "Impaired renal tubular reabsorption of phosphate", + "hematopoietic system", + "multicellular organism", + "abdominal segment element physiology phenotype", + "protein-containing molecular entity", + "tissue phenotype", + "Aminoaciduria", + "organ system subdivision", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", "process", - "abnormal role independent continuant level", + "bone element", + "mesoderm-derived structure phenotype", + "Lacticaciduria", + "multicellular anatomical structure phenotype", + "anatomical entity physiology phenotype", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "skeletal system", + "lateral structure physiology phenotype", + "Abnormality of metabolism/homeostasis", + "decreased size of the anatomical entity", + "blood", + "heteroorganic entity", + "multicellular organismal process", + "Muscle weakness", + "organ part", + "multicellular anatomical structure", + "specifically dependent continuant", + "organ", + "occurrent", + "All", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "anatomical entity height phenotype", + "atom", "carbohydrate", "biological_process", - "increased bodily fluid role level", - "phosphate", - "abnormal multicellular organism chemical entity level", - "circulatory system", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "abnormal respiratory system morphology", - "viscus", - "appendicular skeletal system", - "abnormal chemical entity level", - "abnormal blood chemical entity level", - "monoatomic entity", - "abnormal acid independent continuant level", - "abnormal nephron morphology", - "Rickets", - "multi organ part structure", - "hemolymphoid system", - "abnormal bone element mass density", - "abnormal role bodily fluid level", - "abnormal biological_process", - "chemical entity", - "increased independent continuant acid level", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "metabolic process", + "renal tubule", + "nitrogen molecular entity", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", + "epithelial tube physiology phenotype", + "potassium atom", + "musculoskeletal system", + "hydrogen molecular entity", + "nephron tubule", + "anatomical entity phenotype", + "organonitrogen compound", + "independent continuant", + "skeletal element phenotype", + "organ phenotype", "bodily fluid", - "ion", - "phosphorus molecular entity", - "paired limb/fin skeleton", - "heteroatomic molecular entity", + "material anatomical entity phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "excretory tube phenotype", + "upper urinary tract", + "Abnormality of urine homeostasis", + "decreased functionality of the kidney epithelium", + "Phenotypic abnormality", + "Hyperphosphaturia", + "homeostatic process phenotype", + "trunk region element physiology phenotype", + "material anatomical entity physiology phenotype", + "urine phosphate level phenotype", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "information biomacromolecule", + "decreased size of the material anatomical entity", + "abdominal segment element phenotype", + "biological_process phenotype", "organic acid", - "abnormal hindlimb zeugopod", "ossification", "Abnormal circulating metabolite concentration", - "abnormal kidney morphology", + "size of anatomical entity phenotype", + "phenotypic effect", + "organ physiology phenotype", "main body axis", - "Neoplasm of the lung", - "abnormality of renal system physiology", + "organism substance", + "Rickets", + "hemolymphoid system", + "Abnormal urine pH", + "bone element phenotype", + "decreased functionality of the epithelial tube", + "haemolymphatic fluid", + "phosphate", + "primary amide", + "elemental molecular entity", + "ion", + "increased level of rac-lactic acid in urine", + "blood chemical entity level phenotype", + "blood potassium atom level phenotype", + "hematopoietic system phenotype", "quality", "phosphoric acid derivative", - "abnormality of kidney physiology", - "main group molecular entity", - "haemolymphatic fluid", - "Abnormality of lower limb joint", - "anatomical system", - "Abnormal lung morphology", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "Abnormal urine protein level", - "increased level of glucose in urine", - "Decreased DLCO", - "body proper", - "trunk region element", - "subdivision of organism along main body axis", - "Bowing of the legs", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "lung", - "lower respiratory tract", - "pelvic appendage", - "endoderm-derived structure", - "pair of lungs", - "kidney epithelium", - "phosphorus oxoacids and derivatives", + "Abnormal urine carboxylic acid level", + "system process", + "decreased level of chemical entity", + "decreased level of chemical entity in blood", + "genitourinary system phenotype", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "phosphorus molecular entity", + "tissue physiology phenotype", + "trunk", + "Proteinuria", + "protein-containing material entity", + "phosphate level phenotype", + "blood cation level phenotype", + "blood monoatomic ion level phenotype", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "monoatomic entity", + "subdivision of trunk", + "decreased functionality of the nephron tubule", + "chalcogen molecular entity", + "Abnormal renal physiology", + "kidney physiology phenotype", + "organ system subdivision phenotype", + "epithelium phenotype", + "lateral structure", + "decreased functionality of the excretory tube", + "abdomen element", + "epithelium physiology phenotype", + "decreased functionality of the material anatomical entity", + "epithelium", + "decreased functionality of the tube", + "Abnormality of the upper urinary tract", + "tube physiology phenotype", + "cavitated compound organ phenotype", + "Renal tubular dysfunction", + "decreased functionality of the renal tubule", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", + "homeostatic process", + "excretory tube physiology phenotype", + "decreased functionality of the tissue", "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", "compound organ", - "respiratory airway", - "hematopoietic system", - "multicellular organism", - "thoracic cavity element", - "Abnormality on pulmonary function testing", - "abnormal homeostatic process", - "proximo-distal subdivision of respiratory tract", - "knee", - "Hypophosphatemic rickets", - "Decreased bone element mass density", - "increased level of chemical entity in bodily fluid", - "abnormal acid bodily fluid level", - "increased level of chemical entity", - "Acidosis", - "increased level of chemical entity in independent continuant", - "increased independent continuant role level", + "abdominal segment of trunk", + "abdomen", + "increased level of amino acid in urine", + "compound organ phenotype", + "decreased functionality of the anatomical conduit", + "trunk region element phenotype", + "decreased functionality of the anatomical structure", + "Abnormality of the kidney", + "excretory tube", + "decreased functionality of the multicellular anatomical structure", + "uriniferous tubule", + "epithelial tube phenotype", + "renal system process phenotype", + "anatomical entity dysfunction in independent continuant", + "nephron epithelium phenotype", + "decreased functionality of the epithelium", + "decreased functionality of the nephron epithelium", + "kidney", + "oxoacid derivative", + "compound organ physiology phenotype", + "increased level of phosphate in urine", + "anatomical conduit phenotype", + "blood monovalent inorganic cation level phenotype", + "s-block element atom", + "musculature", + "decreased role blood level", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "role blood level phenotype", + "monovalent inorganic cation", ], - "has_phenotype_count": 14, + "has_phenotype_count": 16, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0100238", + "category": "biolink:Disease", + "name": "inherited Fanconi renotubular syndrome", + "full_name": None, + "deprecated": None, + "description": "An instance of Fanconi renotubular syndrome that is inherited.", + "xref": ["OMIMPS:134600"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": ["hereditary Fanconi renotubular syndrome"], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, + "has_phenotype_count": 0, "highlight": None, "score": None, }, @@ -8428,8 +9235,8 @@ def search(): "name": "Renal Fanconi syndrome", "full_name": None, "deprecated": None, - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], + "description": None, + "xref": None, "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -8438,10928 +9245,8207 @@ def search(): "uri": None, "iri": None, "namespace": "HP", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": None, + "has_phenotype_label": None, + "has_phenotype_closure": None, + "has_phenotype_closure_label": None, "has_phenotype_count": 0, "highlight": None, "score": None, }, { - "id": "MONDO:0010953", + "id": "MONDO:0011584", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group E", + "name": "Fanconi anemia complementation group D1", "full_name": None, "deprecated": None, - "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", - "xref": ["DOID:0111084", "GARD:15324", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], + "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.", + "xref": [ + "DOID:0111089", + "GARD:17449", + "MEDGEN:325420", + "MESH:C563980", + "NCIT:C125705", + "OMIM:605724", + "Orphanet:319462", + "SCTID:766707003", + "UMLS:C1838457", + ], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCE", - "FANCE Fanconi anaemia", - "FANCE Fanconi anemia", - "Fanconi Anemia, complementation group type E", - "Fanconi anaemia caused by mutation in FANCE", - "Fanconi anaemia complementation group type E", - "Fanconi anemia caused by mutation in FANCE", - "Fanconi anemia complementation group E", - "Fanconi anemia complementation group type E", - "Fanconi anemia, complementation group E", - "face", + "FAD1", + "FANCD1", + "Fad1", + "Fanconi anemia complementation group D1", + "Fanconi anemia, complementation group D1", + "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", - "HP:0001875", - "HP:0009777", - "HP:0001249", "HP:0000252", - "HP:0001627", - "HP:0000957", - "HP:0000815", - "HP:0000104", - "HP:0001017", - "HP:0001876", - "HP:0000028", - "HP:0003974", - "HP:0001873", + "HP:0004808", "HP:0009778", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0001263", + "HP:0005528", + "HP:0001511", + "HP:0000957", "HP:0003221", - "HP:0009943", - "HP:0000978", - "HP:0000953", - "HP:0001903", - "HP:0001909", - "HP:0000081", + "HP:0001508", "HP:0004322", - "HP:0000486", - "HP:0000365", - "HP:0003214", - "HP:0003213", - "HP:0000085", + "HP:0006727", + "HP:0002023", ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", - "Thrombocytopenia", + "Acute myeloid leukemia", "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Global developmental delay", + "Bone marrow hypocellularity", + "Intrauterine growth retardation", + "Cafe-au-lait spot", "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Hyperpigmentation of the skin", - "Anemia", - "Leukemia", - "Duplicated collecting system", + "Failure to thrive", "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney", + "T-cell acute lymphoblastic leukemias", + "Anal atresia", ], "has_phenotype_closure": [ - "HP:0000085", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", - "UPHENO:0041629", - "GO:0051716", - "GO:0006950", - "HP:0003213", - "UPHENO:0051124", - "HP:0003254", - "UPHENO:0049964", - "GO:0007049", - "GO:0051319", - "UPHENO:0050625", - "HP:0000364", - "GO:0007605", - "UPHENO:0005518", - 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"UBERON:0002090", - "GO:0048232", - "UPHENO:0087907", - "HP:0006501", - "UBERON:5102544", - "UPHENO:0080377", - "UBERON:0011137", - "UBERON:0000489", - "UBERON:0010323", - "UBERON:0000033", + "NCBITaxon:6072", + "GO:0009892", + "GO:0010605", + "HP:0011844", + "UPHENO:0080079", + "CL:0000219", + "CL:0002031", "HP:0000252", - "UPHENO:0075220", - "UBERON:0015025", - "HP:0012758", - "HP:0002011", - "UPHENO:0046707", - "UPHENO:0074575", + "UBERON:0012475", + "HP:0011793", + "UBERON:0004121", + "UBERON:0010740", + "UPHENO:0076702", + "UPHENO:0078606", + "HP:0002664", + "HP:0002488", + "UBERON:0011137", + "UPHENO:0002963", + "UBERON:0001555", "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "UBERON:0001032", - "UPHENO:0026181", + "UPHENO:0002945", + "CL:0000835", + "UBERON:0000465", + "HP:0002060", + "CL:0000988", + "UPHENO:0002764", + "UBERON:0002199", + "UBERON:0002193", + "UBERON:0010000", + "UBERON:0002390", + "CL:0000839", + "CL:0000000", + "UPHENO:0063596", + "UBERON:0004120", + "UPHENO:0050065", + "UPHENO:0002861", "UPHENO:0002964", - "UBERON:0002616", - "HP:0012443", - "HP:0001626", - "UBERON:0000948", - "BFO:0000001", - "UPHENO:0002635", - "UBERON:0000915", - "UBERON:0005181", - "UPHENO:0080362", - "NCBITaxon:6072", - "UPHENO:0076776", - "UBERON:0001009", - "HP:0030680", - "UPHENO:0005016", - "UBERON:0007100", - "UBERON:0003460", - "HP:0012733", - "UPHENO:0026023", - "HP:0001034", - "HP:0004275", - "UBERON:0010314", - "HP:0001873", - "UPHENO:0080221", - "HP:0001574", - "UBERON:0002416", - "UPHENO:0082682", - "UBERON:0000481", - "HP:0000957", - "HP:0009823", - "UPHENO:0080662", - "UBERON:0002417", - "UPHENO:0074572", - "UBERON:0002102", - "UPHENO:0003811", + "UBERON:0002101", + "UBERON:0010707", + "CL:0011115", + "HP:0001871", + "UBERON:0002470", + "UPHENO:0081423", + "UBERON:0015203", + "HP:0004808", + "UPHENO:0002948", + "UPHENO:0002926", + "UPHENO:0003065", + "UPHENO:0003005", + "UPHENO:0081566", + "CL:0011026", + "UPHENO:0087123", + "HP:0001909", + "UPHENO:0049966", + "CL:0001035", + "CL:0008001", + "UPHENO:0002983", + "CL:0000763", + "HP:0012639", + "BFO:0000002", + "UPHENO:3000003", + "HP:0000707", + "UPHENO:0086172", + "HP:0009115", + "HP:0001172", + "NCBITaxon:131567", + "UPHENO:0076723", + "UPHENO:0002905", + "UPHENO:0002536", + "UPHENO:0076692", + "NCBITaxon:33208", + "UPHENO:0046528", + "UPHENO:0069266", + "UPHENO:0076727", + "UBERON:0000061", + "UPHENO:0076724", + "HP:0009381", + "UPHENO:0050040", + "UPHENO:0002593", + "UBERON:0015212", + "UPHENO:0046552", + "UPHENO:0054304", + "NCBITaxon:2759", + "UBERON:0002389", + "UPHENO:0081581", + "UBERON:5001463", + "GO:0040007", + "UBERON:0001460", + "UPHENO:0068971", + "GO:0031323", + "UBERON:0011138", + "UBERON:0002513", + "UBERON:0002529", "HP:0033127", - "HP:0007400", - "UPHENO:0074589", - "RO:0002577", - "HP:0000951", - "UPHENO:0085076", - "GO:0043473", - "HP:0000002", - "UPHENO:0076740", - "HP:0000953", + "UPHENO:0086635", + "UPHENO:0049587", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0004708", + "UBERON:0010538", + "UBERON:0010712", + "UBERON:0010708", + "UBERON:0012139", + "GO:0031326", + "UBERON:0002090", + "UPHENO:0002526", + "HP:0040064", + "HP:0001167", + "UPHENO:0063577", + "UPHENO:0002708", + "UPHENO:0063558", + "HP:0011017", + "UPHENO:0002976", + "UBERON:0012141", + "UPHENO:0002782", + "UPHENO:0002600", + "UPHENO:0002833", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0003129", + "UBERON:0015061", + "UPHENO:0001003", + "UBERON:0006717", + "UPHENO:0052778", + "HP:0011927", + "UPHENO:0012274", + "UPHENO:0053208", + "UBERON:0002102", + "UPHENO:0002632", + "UBERON:0004111", + "UBERON:0005451", + "UBERON:0012140", + "UBERON:0002398", + "UPHENO:0003069", + "UPHENO:0002648", + "UPHENO:0002746", + "UPHENO:0069605", + "UPHENO:0087006", + "CL:0000738", + "UBERON:0005881", + "UBERON:5002544", + "UPHENO:0069327", + "UBERON:0010323", + "UPHENO:0046707", + "UPHENO:0002559", + "HP:0006727", + "UPHENO:0069062", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "UBERON:0001434", + "HP:0006496", + "HP:0009778", + "UPHENO:0002830", + "UPHENO:0003799", + "UPHENO:0084448", "UBERON:0004710", - "UPHENO:0088162", - "GO:0050794", - "UPHENO:0085875", - "HP:0011121", - "HP:0001903", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0046483", + "UPHENO:0063594", + "HP:0009601", + "HP:0005927", + "UBERON:0004381", + "UPHENO:0004476", + "UBERON:0007272", + "UPHENO:0054957", "UPHENO:0004459", - "UPHENO:0003116", - "UPHENO:0003055", - "HP:0001876", - "HP:0000118", - "UPHENO:0024906", - "HP:0000078", - "HP:0011028", - "UBERON:0010712", - "HP:0000080", - "UPHENO:0066972", - "UBERON:0000990", - "UPHENO:0003020", - "UBERON:0005944", - "UBERON:0000991", - "HP:0008373", - "UPHENO:0080126", - "UBERON:0015204", - "HP:0000818", - "UBERON:0005156", - "UPHENO:0082875", - "HP:0011355", - "HP:0000104", - "UPHENO:0008593", - "UPHENO:0026980", - "GO:1901360", - "HP:0000980", - "UBERON:0000061", - "UPHENO:0025211", - "HP:0025461", - "UPHENO:0009399", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "UPHENO:0087089", - "CL:0000764", - "UBERON:0001474", - "CL:0000329", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", - "UPHENO:0086045", - "HP:0011875", - "UPHENO:0085042", - "HP:0012145", - "UPHENO:0087355", - "CL:0000457", - "UPHENO:0087339", - "CL:0000458", - "UBERON:0001690", - "UBERON:0015410", - "UPHENO:0086173", - "CL:0000151", - "UPHENO:0081755", - "UBERON:0002471", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0084761", - "HP:0001872", - "UBERON:0011584", - "UPHENO:0084987", - "UPHENO:0052231", - "HP:0000028", - "HP:0001510", - "UPHENO:0086023", - "HP:0004742", - "UBERON:0003620", - "HP:0012130", - "CL:0000300", - "UPHENO:0005597", - "CL:0000586", - "HP:0001627", - "UPHENO:0049970", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "GO:0003006", - "HP:0001000", - "UPHENO:0080382", - "UPHENO:0085356", - "GO:0019953", - "GO:0000003", - "HP:0001249", - "UBERON:0001968", - "GO:0048609", - "HP:0003953", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0041821", - "HP:0009825", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0015228", - "CL:0000015", - "HP:0008669", - "HP:0000811", - "UPHENO:0086201", - "UPHENO:0053298", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0076941", - "UPHENO:0002764", - "UPHENO:0002597", - "CL:0000413", - "CL:0000039", - "UBERON:0011216", - "UBERON:0004175", - "UBERON:0004176", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0081511", - "UPHENO:0086635", - "HP:0000240", - "HP:0000812", - "UBERON:0015021", - "UBERON:0002386", - "UPHENO:0086198", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", - "UPHENO:0079826", - "UBERON:0004122", - "UPHENO:0002595", - "UBERON:0015063", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0078452", - "HP:0005918", - "HP:0012243", - "UBERON:0013702", - "UPHENO:0080187", - "UBERON:0000955", - "UBERON:0010703", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0010912", - "CL:0000094", - "HP:0040072", - "UPHENO:0079872", - "UPHENO:0009341", - "UBERON:0001423", - "UPHENO:0086956", - "HP:0040070", - "UBERON:0002405", - "UPHENO:0021561", - "UBERON:0003606", - "UPHENO:0005651", - "UPHENO:0076718", - "UBERON:0002104", - "HP:0006503", - "HP:0009142", - "UBERON:0004535", - "UPHENO:0002751", - "UBERON:0002495", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "UBERON:0010741", - "UPHENO:0069254", - "UBERON:0000949", - "UBERON:0003466", - "UPHENO:0012541", - "HP:0004325", - "UPHENO:0031839", - "UPHENO:0046411", - "UBERON:0004381", - "UPHENO:0011498", - "UPHENO:0046624", - "UPHENO:0008668", - "UPHENO:0068971", + "UBERON:0002428", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0046426", ], "has_phenotype_closure_label": [ - "Horseshoe kidney", - "shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", - "abnormal response to stress", - "DNA repair", - "response to stress", - "abnormal cellular response to stress", - "abnormal DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Abnormality of the cell cycle", - "G2 phase", - "cell cycle phase", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", - "ear", - "abnormal ear", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "anatomical line", - "body part movement", - "immaterial anatomical entity", - "behavior", - "concave 3-D shape anatomical entity", - "Abnormality of eye movement", - "response to stimulus", - "eye movement", - "abnormal eye movement", - "Strabismus", - "behavior process", - "abnormal response to stimulus", - "Abnormality of body height", + "anus", + "closing of the multicellular anatomical structure", + "multicellular anatomical structure atresia", + "digestive tract", + "anatomical conduit atresia", + "anus morphology phenotype", + "Abnormal anus morphology", + "Anal atresia", + "anus atresia", + "tube", + "orifice", + "orifice phenotype", + "Abnormal digestive system morphology", + "closing of the anatomical entity", + "digestive system morphology phenotype", + "T-cell acute lymphoblastic leukemias", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "delayed biological_process", - "abnormal DNA damage response", - "delayed growth", - "abnormal size of multicellular organism", - "Neoplasm", - "Hematological neoplasm", - "vasculature", - "Abnormality of the vasculature", - "blood circulation", - "Bruising susceptibility", - "Subcutaneous hemorrhage", - "abnormality of cardiovascular system physiology", - "Generalized abnormality of skin", - "Internal hemorrhage", - "Abnormality of blood circulation", - "Vascular skin abnormality", - "vascular system", - "Abnormal bleeding", - "abnormal anatomical entity morphology in the skeleton of manus", - "manual digit bone", - "Duplication of bones involving the upper extremities", - "phalanx endochondral element", - "manual digit phalanx endochondral element", - "Duplication of phalanx of hand", - "abnormal phalanx morphology", - "acropodial skeleton", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", - "phalanx", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "digitopodium bone", - "skeleton of manual acropodium", - "manual digitopodium bone", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", + "decreased height of the anatomical entity", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased qualitatively growth", + "multicellular organism mass phenotype", + "multicellular anatomical structure mass phenotype", + "closing of the anatomical structure", + "material anatomical entity mass phenotype", + "anatomical entity mass phenotype", + "multicellular organism phenotype", + "Abnormality of body weight", + "anatomical structure mass phenotype", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", "regulation of biosynthetic process", - "individual digit of digitopodial skeleton", - "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "Abnormality of DNA repair", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", + "metabolic process", + "biological regulation", + "regulation of cellular biosynthetic process", + "negative regulation of cellular metabolic process", "Chromosome breakage", - "decreased height of the anatomical entity", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "Duplicated collecting system", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of metabolic process phenotype", + "regulation of cellular metabolic process phenotype", "Abnormality of metabolism/homeostasis", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "cellular response to stimulus", - "Chromosomal breakage induced by crosslinking agents", - "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormal growth", - "decreased anatomical entity mass", - "abnormal cell cycle", - "Duplication of thumb phalanx", - "abnormality of anatomical entity mass", - "sensory system", - "decreased size of the eyeball of camera-type eye", - "simple eye", - "eyeball of camera-type eye", - "camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "abnormal camera-type eye morphology", - "Abnormality of the eye", - "abnormal face", - "orbital region", - "abnormal eyeball of camera-type eye", - "abnormal size of eyeball of camera-type eye", - "visual system", - "Abnormality of the orbital region", - "Abnormality of the face", - "sense organ", - "Microphthalmia", - "abnormal enucleated reticulocyte morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Non-obstructive azoospermia", + "closing of the material anatomical entity", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "negative regulation of biological process", + "obsolete cell", + "programmed DNA elimination", + "regulation of cellular biosynthetic process phenotype", + "Abnormal skin morphology", + "increased biological_process", + "increased pigmentation in skin of body", + "Irregular hyperpigmentation", + "skin of body phenotype", + "pigmentation", + "Hypermelanotic macule", + "skin of body morphology phenotype", + "Cafe-au-lait spot", + "increased biological_process in skin of body", + "increased pigmentation", + "integumental system", + "skin of body", + "Macule", + "Abnormality of the integument", + "decreased embryo development", + "negative regulation of biosynthetic process", + "decreased qualitatively multicellular organismal process", + "closing of the anatomical conduit", + "decreased qualitatively biological_process", "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "system process", - "Duplication of hand bones", - "abnormal nitrogen compound metabolic process", - "nervous system process", - "axial skeleton plus cranial skeleton", - "Abnormal appendicular skeleton morphology", + "developmental process rate phenotype", + "anatomical structure development phenotype", + "biological_process", + "developmental process", + "multicellular organismal process", + "Acute lymphoblastic leukemia", "growth", + "decreased multicellular organismal process", + "growth phenotype", + "biological_process rate phenotype", + "decreased qualitatively multicellular organism development", + "regulation of cellular process phenotype", + "anatomical structure development", + "decreased anatomical structure development", + "decreased qualitatively anatomical structure development", + "decreased qualitatively embryo development", + "delayed growth", + "embryo development rate phenotype", + "embryo development", + "delayed biological_process", + "Abnormality of multiple cell lineages in the bone marrow", + "tissue", + "digestive system phenotype", + "negative regulation of macromolecule metabolic process", + "Abnormal bone marrow cell morphology", + "Aplasia/hypoplasia involving the skeleton", "Aplasia/hypoplasia involving bones of the upper limbs", - "acropodium region", - "Intellectual disability", - "bone marrow", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "segment of manus", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal immune system morphology", - "genitourinary system", - "decreased qualitatively reproductive process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "paired limb/fin skeleton", - "arm", - "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "Abnormal finger phalanx morphology", - "pigmentation", - "bone of appendage girdle complex", - "abnormal limb morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "entity", - "Metazoa", - "Abnormal hand morphology", + "Abnormal limb bone morphology", + "Abnormal finger morphology", + "organ phenotype", + "endochondral bone phenotype", + "skeletal element phenotype", + "decreased size of the manual digit", + "bone of appendage girdle complex phenotype", + "decreased length of digit 1", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the anatomical structure", + "limb bone phenotype", + "bone element phenotype", + "regulation of gene expression", + "autopod region morphology phenotype", "Localized skin lesion", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal autopod region morphology", - "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "cell", - "absent anatomical entity in the renal system", - "skeleton", - "male gamete generation", - "absent anatomical entity", - "Abnormal digit morphology", - "appendicular skeletal system", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", - "agenesis of anatomical entity", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "abnormal digit morphology", + "Abnormal hand morphology", + "digit plus metapodial segment", + "autopodial extension", "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of manus", - "skeleton of limb", + "decreased anatomical structure mass", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased length of digit", + "skeleton of pectoral complex", + "appendicular skeletal system", + "paired limb/fin segment", + "Opisthokonta", "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", - "skeletal system", - "motile cell", - "aplastic anatomical entity", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "abnormally decreased number of myeloid cell", - "face", - "aplasia or hypoplasia of manual digit", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "regulation of metabolic process", - "Decreased body weight", - "manual digit 1", - "autopodial extension", - "digit plus metapodial segment", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", - "excretory system", + "skeleton of limb", + "myeloblast", + "anatomical entity morphology in the pectoral complex phenotype", + "granulocytopoietic cell", + "eukaryotic cell", + "independent continuant", + "anatomical entity morphology in the manus phenotype", + "negative regulation of gene expression phenotype", + "multicellular organism development", + "segment of autopod", + "hemolymphoid system", + "central nervous system", + "multi-tissue structure phenotype", + "Decreased multicellular organism mass", + "Abnormal brain morphology", + "cellular organisms", + "skull morphology phenotype", + "Abnormal skull morphology", + "Abnormality of head or neck", + "decreased length of digit 1 or 5", + "regional part of nervous system", + "forebrain", + "appendage phenotype", + "brain", + "aplasia or hypoplasia of manual digit 1", "bone marrow cell", - "circulatory system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "abnormal myeloid cell morphology", - "increased biological_process", - "sexual reproduction", - "Macule", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "quality", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "DNA damage response", - "lateral structure", - "abnormal vasculature", - "abnormal genitourinary system", - "changed developmental process rate", - "Abnormal cerebral morphology", - "abnormal blood circulation", - "arm bone", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "abnormal hematopoietic system", - "Renal agenesis", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", + "system", + "manus phenotype", + "craniocervical region phenotype", + "main body axis", + "organism subdivision phenotype", + "endochondral element", + "nervous system", + "anatomical entity atresia", + "decreased length of material anatomical entity", "nucleate cell", - "cognition", + "Decreased anatomical entity mass", + "manual digitopodium region", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "anatomical entity", + "skull phenotype", + "mesoderm-derived structure phenotype", + "bone element", + "negative regulation of gene expression", + "Phenotypic abnormality", + "anus phenotype", + "material entity", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "organism subdivision", + "regional part of brain phenotype", + "limb segment phenotype", + "telencephalon", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "Abnormal axial skeleton morphology", + "ectoderm-derived structure phenotype", + "hematopoietic system phenotype", + "anterior region of body", + "appendicular skeleton", + "upper limb segment", + "decreased multicellular organism development", + "regional part of nervous system phenotype", + "regulation of macromolecule metabolic process phenotype", + "Bone marrow hypocellularity", + "skeletal element", + "Aplasia/Hypoplasia involving the central nervous system", + "decreased size of the organism subdivision", + "negative regulation of metabolic process", + "musculature phenotype", + "Abnormal nervous system morphology", + "anatomical system phenotype", + "decreased size of the digit", + "autopodial extension phenotype", + "Chromosomal breakage induced by crosslinking agents", + "forebrain morphology phenotype", + "regulation of cellular process", + "craniofacial/craniocervical phenotype", "appendage", + "anatomical entity phenotype", "root", - "abnormally localised anatomical entity in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "renal system", - "absent digit", - "phenotype", + "immune system", + "myeloid cell", + "quality", + "musculoskeletal system", "Abnormal cell morphology", - "skeletal element", - "zeugopod", - "Abnormal cellular immune system morphology", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", - "Abnormal nervous system physiology", + "phenotype", + "head morphology phenotype", + "Abnormality of the anus", + "organ system subdivision", + "anatomical conduit phenotype", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", + "Metazoa", + "multi-tissue structure", + "decreased multicellular anatomical structure mass", + "increased qualitatively biological_process", + "All", + "anatomical collection", + "nervous system phenotype", "Abnormality of the immune system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "regional part of nervous system", - "abdominal segment element", - "abnormal reproductive system morphology", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "hemolymphoid system", - "biological_process", - "myeloid leukocyte", - "entire sense organ system", - "absent radius bone in the independent continuant", - "Abnormal localization of kidney", - "biological regulation", - "Global developmental delay", - "abdominal segment of trunk", - "renal collecting system", - "Ectopic kidney", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal immune system", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", - "abnormal renal system morphology", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "absent kidney in the renal system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "reproduction", - "absent anatomical entity in the multicellular organism", - "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", - "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Aplasia/hypoplasia involving the skeleton", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "subdivision of trunk", - "absent manual digit", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "body proper", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", + "Abnormal cerebral morphology", + "specifically dependent continuant", + "Abnormal forebrain morphology", + "multi-limb segment region phenotype", + "anatomical conduit", + "Abnormality of the head", + "Decreased head circumference", + "biological regulation phenotype", + "Abnormality of skull size", + "pectoral complex", + "homeostatic process phenotype", + "brain morphology phenotype", + "anatomical entity length phenotype", + "aplasia or hypoplasia of anatomical entity", + "decreased growth", + "disconnected anatomical group", + "material anatomical entity atresia", + "regulation of gene expression phenotype", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of biological process phenotype", + "subdivision of skeletal system", + "Leukemia", + "entity", "continuant", - "abnormality of ear physiology", - "absent anatomical entity in the forelimb", "multicellular anatomical structure", - "cellular metabolic process", - "Abnormality of neutrophils", - "leukocyte", - "abnormal gamete generation", - "protein-containing material entity", - "gamete generation", - "abnormally decreased number of cell in the independent continuant", - "abnormal neutrophil", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "phalanx of manus", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", - "abnormal nervous system", - "paired limb/fin segment", - "abnormality of camera-type eye physiology", - "immune system", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "Absent forearm bone", - "Leukemia", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "blood cell", - "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", - "Abnormal myeloid cell morphology", - "U-shaped kidney", + "neoplasm phenotype", + "telencephalon phenotype", + "progenitor cell", + "size of anatomical entity phenotype", + "phenotypic effect", + "pectoral appendage skeleton", + "regional part of brain", + "musculature", + "anatomical structure", + "Hyperpigmentation of the skin", + "digit", + "limb endochondral element phenotype", + "Decreased body weight", + "decreased qualitatively developmental process", + "postcranial axial skeleton", + "material anatomical entity", + "structure with developmental contribution from neural crest phenotype", + "bone of appendage girdle complex", + "regulation of biological process", + "hematopoietic lineage restricted progenitor cell", + "nervous system morphology phenotype", + "digit 1 phenotype", + "decreased size of the multicellular organism", + "myeloid lineage restricted progenitor cell", + "telencephalon morphology phenotype", + "ectoderm-derived structure atresia", + "immune system morphology phenotype", + "decreased material anatomical entity mass", + "subdivision of organism along main body axis", + "integument phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "manus", + "decreased developmental process", + "central nervous system morphology phenotype", + "axial skeletal system", + "motile cell", + "skeletal system", + "multicellular anatomical structure phenotype", + "multicellular organism height phenotype", + "cranial skeletal system", + "limb morphology phenotype", + "decreased length of manual digit", + "Eumetazoa", + "Eukaryota", + "Abnormality of the musculoskeletal system", + "subdivision of skeletal system phenotype", "digit 1 or 5", - "skeleton of manual digitopodium", - "primary circulatory organ", - "granulocyte", - "Complete duplication of phalanx of hand", + "programmed DNA elimination by chromosome breakage", + "Growth abnormality", + "size of skull phenotype", + "anatomical entity morphology phenotype", + "multicellular organism development phenotype", + "subdivision of organism along appendicular axis", + "musculature of body", + "body proper", + "pectoral appendage", + "regulation of biosynthetic process phenotype", + "subdivision of organism along main body axis phenotype", + "taxon specific phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Morphological central nervous system abnormality", + "digestive system", + "Abnormal leukocyte morphology", + "precursor cell", + "manual digit 1 plus metapodial segment", + "skeletal system phenotype", + "Abnormality of the skin", + "organ system subdivision phenotype", + "craniocervical region", + "aplasia or hypoplasia of telencephalon", + "Growth delay", + "decreased length of multicellular anatomical structure", + "bone of free limb or fin phenotype", + "anatomical structure phenotype", + "bone of free limb or fin", + "craniocervical region morphology phenotype", + "aplasia or hypoplasia of skeleton", + "anatomical system", + "occurrent", + "appendicular skeleton morphology phenotype", + "organ", + "Aplasia/Hypoplasia of the cerebrum", + "multicellular organism morphology phenotype", + "Abnormal cellular immune system morphology", + "subdivision of organism along appendicular axis phenotype", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "manual digit plus metapodial segment", + "integument", + "leukocyte morphology phenotype", "limb bone", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", + "mesoderm-derived structure", + "non-connected functional system", + "skeletal system morphology phenotype", + "cell phenotype", "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "viscus", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "Acute leukemia", + "embryo development phenotype", + "manual digit 1 or 5", + "Neoplasm", "hematopoietic cell", - "aplastic manual digit 1", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal granulocyte morphology", - "abnormally decreased number of granulocyte", - "manual digit 1 plus metapodial segment", - "abdomen", - "neutrophil", - "Complete duplication of thumb phalanx", - "manual digit 1 phalanx", - "abnormal forelimb zeugopod bone", - "Abnormal myeloid leukocyte morphology", - "Pancytopenia", - "abnormal head", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", + "leukocyte", + "skeleton", + "immune system phenotype", + "Abnormality of blood and blood-forming tissues", + "Abnormal immune system morphology", + "digit 1", + "aplasia or hypoplasia of manual digit", "organism", - "programmed DNA elimination", - "obsolete cell", - "internal male genitalia", - "Abnormal granulocyte count", - "eye", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal hematopoietic cell morphology", - "biological phase", - "autopod bone", - "mesoderm-derived structure", - "abnormal manus", - "craniocervical region", - "abnormal forebrain morphology", - "multi-tissue structure", - "abnormal craniocervical region morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", - "Decreased head circumference", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "abnormal head morphology", - "Abnormality of the musculoskeletal system", + "autopod region", + "Abnormal cellular physiology", + "forelimb morphology phenotype", + "limb segment", + "multicellular organismal process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "decreased size of the multicellular anatomical structure", + "Short finger", + "skeleton of manus", + "Failure to thrive", + "paired limb/fin phenotype", + "autopod region phenotype", + "Abnormal appendicular skeleton morphology", + "closing of the ectoderm-derived structure", + "limb endochondral element", + "autopodial skeleton", + "lateral structure", + "Acute myeloid leukemia", + "Short digit", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "anatomical collection phenotype", + "limb bone morphology phenotype", + "manual digit", + "arm", + "material anatomical entity phenotype", + "manus morphology phenotype", + "hematopoietic system", + "multicellular organism", + "arm phenotype", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "limb phenotype", "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "spermatogenesis", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "negative regulation of cellular metabolic process", - "Eukaryota", - "kinesthetic behavior", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "manual digit 1 phalanx endochondral element", - "tissue", - "absent anatomical entity in the semen", - "limb skeleton subdivision", + "skeleton phenotype", + "paired limb/fin", + "forelimb skeleton", + "Abnormal thumb morphology", + "appendage girdle complex", + "digit phenotype", + "bone marrow", + "acropodium region", + "developmental process phenotype", + "paired limb/fin segment phenotype", + "protein-containing material entity", + "segment of manus", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", "skull", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "absent sperm in the semen", - "bone of pectoral complex", + "decreased length of organism subdivision", "decreased length of anatomical entity", - "autopod endochondral element", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "digit 1 plus metapodial segment", + "decreased length of anatomical structure", + "Hematological neoplasm", + "Abnormality of the hand", + "hematopoietic precursor cell", + "limb", + "cell", + "Abnormality of the upper limb", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal digit morphology", + "orifice atresia", + "subdivision of skeleton", + "endochondral bone", + "decreased length of autopodial extension", + "upper limb segment phenotype", + "digit morphology phenotype", + "digit 1 or 5 phenotype", + "limb skeleton subdivision", + "manual digit morphology in the manus phenotype", + "multi-limb segment region", + "pigmentation phenotype", + "manual digit phenotype", + "Intrauterine growth retardation", + "Short thumb", + "anatomical structure atresia", + "manual digit 1 morphology phenotype", + "endochondral element phenotype", + "decreased length of manual digit 1 or 5", + "head", "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb", - "Abnormal forebrain morphology", - "multicellular organismal reproductive process", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Abnormal renal morphology", - "abnormal external genitalia", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "reproductive organ", - "abnormal skull morphology", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "heart plus pericardium", - "Cryptorchidism", - "thoracic segment organ", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "circulatory organ", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Abnormality of cardiovascular system morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "integumental system", - "integument", - "absent radius bone in the forelimb", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Growth delay", - "kidney", - "abnormal biological_process", - "Abnormality of skin morphology", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Neutropenia", - "reproductive structure", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "germ line cell", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal integument", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "limb segment", - "absent sperm", - "abnormal endocrine system", - "abnormally decreased number of reticulocyte", - "Abnormality of the endocrine system", - "Abnormality of reproductive system physiology", - "gamete", - "male gamete", - "abnormally decreased functionality of the gonad", - "Abnormality of the genital system", - "glandular system", - "absent kidney", - "subdivision of skeletal system", - "abnormally decreased number of neutrophil", - "absent kidney in the independent continuant", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "manus bone", - "radius bone", - "Abnormality of the hand", - "Anemia", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal cellular process", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", - "anucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "cellular organisms", - "Abnormal neutrophil count", - "obsolete multicellular organism reproduction", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "digit 1", - "abnormal platelet morphology", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "developmental process involved in reproduction", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "abnormal testis morphology", - "forelimb zeugopod", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "germ cell", - "absent gamete", - "sperm", - "abnormal gamete", - "Reticulocytopenia", - "organism substance", - "haploid cell", - "disconnected anatomical group", - "abnormal cell", - "male reproductive organ", - "internal genitalia", - "abnormal internal genitalia", - "platelet", - "absent sperm in the independent continuant", - "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "Abnormal external genitalia", - "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "interphase", - "semen", - "Abnormal testis morphology", - "male germ cell", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "male organism", - "abnormal granulocyte morphology", - "Azoospermia", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "testis", - "external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "Aplasia involving bones of the upper limbs", - "eukaryotic cell", - "abnormal limb long bone morphology", - "absent forelimb zeugopod bone", - "forelimb zeugopod skeleton", - "abnormal size of skull", - "forelimb long bone", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", - "Pallor", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "Absent radius", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal behavior", - "radius endochondral element", - "sensory perception of mechanical stimulus", - "abnormally decreased number of anatomical entity", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormal radius bone morphology", - "aplastic forelimb zeugopod bone", - "Short finger", - "Abnormal reticulocyte morphology", - "decreased length of anatomical entity in independent continuant", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "decreased length of digit", - "skeleton of digitopodium", - "Short digit", - "reticulocyte", + "biological_process phenotype", + "decreased size of the material anatomical entity", ], - "has_phenotype_count": 32, + "has_phenotype_count": 11, "highlight": None, "score": None, }, { - "id": "MONDO:0013566", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group L", + "name": "Fanconi anemia complementation group O", "full_name": None, "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", - "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCL", - "FANCL Fanconi anaemia", - "FANCL Fanconi anemia", - "Fanconi Anemia, complementation Group 50", - "Fanconi Anemia, complementation group type 50", - "Fanconi anaemia caused by mutation in FANCL", - "Fanconi anaemia complementation group type L", - "Fanconi anemia caused by mutation in FANCL", - "Fanconi anemia complementation group L", - "Fanconi anemia complementation group type L", - "Fanconi anemia, complementation group L", + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0007018", - "HP:0000470", - "HP:0008551", "HP:0009777", - "HP:0004590", - "HP:0002575", - "HP:0000238", - "HP:0000369", - "HP:0000465", - "HP:0000957", + "HP:0040012", + "HP:0001245", + "HP:0003774", + "HP:0002984", + "HP:0000126", + "HP:0000028", + "HP:0009778", + "HP:0009623", + "HP:0001627", + "HP:0000107", + "HP:0003241", + "HP:0004322", "HP:0002023", - "HP:0000582", - "HP:0001510", - "HP:0000316", - "HP:0001776", - "HP:0000347", - "HP:0003974", - "HP:0001511", - "HP:0009892", - "HP:0000151", - "HP:0001263", - "HP:0003221", - "HP:0002032", - "HP:0011968", - "HP:0001321", - "HP:0000175", - "HP:0000054", - "HP:0000437", - "HP:0001903", - "HP:0000122", - "HP:0002188", - "HP:0000568", - "HP:0000431", - "HP:0005528", - "HP:0000089", + "HP:0025023", ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", - "Short neck", - "Microtia", "Absent thumb", - "Hypoplastic sacrum", - "Tracheoesophageal fistula", - "Hydrocephalus", - "Low-set ears", - "Webbed neck", - "Cafe-au-lait spot", + "Chromosome breakage", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Hypoplasia of the radius", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", + "Short stature", "Anal atresia", - "Upslanted palpebral fissure", - "Growth delay", - "Hypertelorism", - "Bilateral talipes equinovarus", - "Micrognathia", - "Absent radius", - "Intrauterine growth retardation", - "Anotia", - "Aplasia of the uterus", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Esophageal atresia", - "Feeding difficulties", - "Cerebellar hypoplasia", - "Cleft palate", - "Micropenis", - "Depressed nasal tip", - "Anemia", - "Unilateral renal agenesis", - "Delayed CNS myelination", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", - "Renal hypoplasia", + "Rectal atresia", ], "has_phenotype_closure": [ - 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"UBERON:0000466", - "UPHENO:0002598", - "HP:0100886", - "UBERON:0010230", - "HP:0011400", - "HP:0012372", - "OBI:0100026", - "UPHENO:0001072", - "HP:0000478", - "UBERON:5001463", - "UPHENO:0021474", - "UPHENO:0080158", - "UPHENO:0080196", - "UPHENO:0063599", - "UBERON:0010222", - "UPHENO:0087816", - "HP:0001762", - "HP:0001776", - "UBERON:0010709", - "HP:0005656", - "UPHENO:0072195", - "HP:0002814", - "UPHENO:0050008", - "HP:0006496", - "UPHENO:0003070", - "UPHENO:0081575", - "HP:0000925", - "UBERON:0008784", - "HP:0002692", - "UBERON:0004756", + "GO:0010468", + "UPHENO:0012440", + "UPHENO:0000541", + "UPHENO:0080351", ], "has_phenotype_closure_label": [ - "decreased size of the kidney", - "Bone marrow hypocellularity", - "bone marrow", - "abnormal immune system morphology", - "bone cell", - "tissue", - "Abnormality of bone marrow cell morphology", - "abnormal immune system", - "increased width of anatomical entity", - "abnormal nasal bridge morphology", - "abnormal snout morphology", - "increased width of nasal bridge", - "increased width of the anatomical entity in independent continuant", - "snout", - "Abnormality of globe size", - "Aplasia/Hypoplasia affecting the eye", - "central nervous system myelination", - "gliogenesis", - "decreased size of the eyeball of camera-type eye", - "oligodendrocyte differentiation", - "oligodendrocyte development", - "nervous system development", - "glial cell differentiation", - "abnormal myelination in independent continuant", - "delayed central nervous system myelination", - "abnormal central nervous system myelination in independent continuant", - "abnormal biological_process in central nervous system", - "Abnormal myelination", - "abnormal hematopoietic system morphology", - "system development", - "axon ensheathment", - "abnormal axon ensheathment in central nervous system in independent continuant", - "cellular developmental process", - "abdomen element", - "Abnormality of the kidney", - "absent anatomical entity in the renal system", - "absent kidney", - "cavitated compound organ", - "excretory system", - "abnormal renal system", - "renal system", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "abnormal upper urinary tract", - "abnormal hematopoietic system", - "hematopoietic system", - "abnormal cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormal erythrocyte morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "abnormal size of eyeball of camera-type eye", - "nose tip", - "nose", - "Abnormality of the nose", - "flattened anatomical entity in independent continuant", - "olfactory organ", - "curvature anatomical entity", - "Abnormal external nose morphology", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "flat nose tip", - "external male genitalia", - "Hypoplasia of penis", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal external genitalia", - "decreased size of the external male genitalia", - "Abnormal renal morphology", - "abnormal external genitalia", - "External genital hypoplasia", - "Abnormal penis morphology", - "abnormal penis", - "male reproductive system", - "anatomical cavity", - "abnormal incomplete closing of the secondary palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal midface morphology", - "Orofacial cleft", - "abnormal roof of mouth morphology", - "Craniofacial cleft", - "Abnormal metencephalon morphology", - "Cerebellar hypoplasia", + "Opisthokonta", + "Anorectal anomaly", + "rectum morphology phenotype", + "Abnormal intestine morphology", + "Rectal atresia", + "closing of the organ part", + "intestine morphology phenotype", + "intestine atresia", + "anatomical system atresia", + "subdivision of digestive tract atresia", + "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype", + "rectum atresia", + "organism", + "digestive system element", + "internal anal region", + "cellular organisms", + "Abnormal gastrointestinal tract morphology", + "organ part atresia", + "intestine", + "terminal part of digestive tract", + "rectum", "Eumetazoa", - "regional part of brain", - "segmental subdivision of nervous system", - "abnormal cerebellum morphology", - "hindbrain", - "external genitalia", - "cerebellum", - "metencephalon", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal metencephalon morphology", - "Abnormal midface morphology", - "regional part of nervous system", - "delayed myelination", - "abnormal hindbrain morphology", - "cerebellum hypoplasia", + "alimentary part of gastrointestinal system", + "alimentary part of gastrointestinal system atresia", + "anus", + "material anatomical entity atresia", + "closing of the anatomical structure", + "digestive system phenotype", + "digestive tract", + "closing of the anatomical conduit", + "anus morphology phenotype", + "Abnormality of the anus", + "Abnormal anus morphology", + "ectoderm-derived structure phenotype", + "orifice", + "anatomical entity atresia", + "anus phenotype", + "orifice phenotype", + "Abnormality of the gastrointestinal tract", + "Abnormal digestive system morphology", "root", - "Feeding difficulties", - "abnormality of digestive system physiology", - "Esophageal atresia", - "esophagus atresia", - "Chromosomal breakage induced by crosslinking agents", - "Neurodevelopmental abnormality", - "Abdominal symptom", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "Abnormality of the digestive system", + "closing of the ectoderm-derived structure", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "palmar/plantar part of autopod", + "anal region", + "muscle structure", + "large intestine", + "material anatomical entity", + "Abnormal skeletal muscle morphology", + "arm phenotype", + "thoracic cavity element", + "pectoral appendage musculature", + "musculature of upper limb", + "regulation of cellular metabolic process", + "subdivision of tube phenotype", + "musculature of limb phenotype", + "independent continuant", + "subdivision of skeletal system", + "entity", + "forelimb zeugopod bone morphology phenotype", + "autopod region morphology phenotype", + "absent organism subdivision in the multicellular organism", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "closing of the subdivision of digestive tract", + "negative regulation of biological process phenotype", + "Abnormal cellular phenotype", + "negative regulation of gene expression phenotype", + "segment of autopod", + "reproductive system", + "muscle organ", + "musculature of pectoral complex", + "kidney morphology phenotype", "Abnormal reproductive system morphology", - "abnormal kidney", - "abnormal reproductive system", - "bone marrow cell", - "internal female genitalia", - "Wide nasal bridge", - "abnormal internal female genitalia morphology", - "female organism", - "abnormal female reproductive system", - "Abnormality of the uterus", - "internal genitalia", - "aplasia or hypoplasia of eyeball of camera-type eye", - "uterus", - "abnormal uterus", - "genitourinary system", - "Abnormal morphology of female internal genitalia", - "Aplasia of the uterus", - "reproductive structure", - "abnormal reproductive system morphology", - "female reproductive system", - "aplasia or hypoplasia of uterus", - "oviduct", - "erythrocyte", - "subdivision of oviduct", - "absent anatomical entity in the head", - "absent external ear", - "Anotia", - "absent external ear in the head", - "abnormal biological_process in nervous system", - "absent anatomical entity in the ear", - "decreased embryo development", - "changed embryo development rate", - "multicellular organism development", - "abnormal genitourinary system", - "changed developmental process rate", - "decreased qualitatively developmental process", - "decreased developmental process", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Intrauterine growth retardation", - "Hypoplastic male external genitalia", - "anatomical structure development", - "abnormal embryo development", - "aplastic forelimb zeugopod bone", - "Aplasia/Hypoplasia of the radius", - "Aplasia involving bones of the extremities", - "Aplasia/Hypoplasia of the cerebellum", - "forelimb zeugopod", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", + "cell phenotype", + "programmed DNA elimination by chromosome breakage", + "cell", + "Abnormality of the upper limb", + "skeletal element", + "regulation of macromolecule biosynthetic process phenotype", + "zeugopod", + "regulation of biosynthetic process phenotype", + "compound organ", + "zeugopodial skeleton", "limb long bone", - "Aplasia/hypoplasia involving forearm bones", - "embryo development", - "abnormal radius bone morphology", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormality of the female genitalia", - "abnormal forelimb zeugopod morphology", - "arm bone", - "forelimb long bone", + "Abnormality of chromosome stability", + "negative regulation of macromolecule metabolic process phenotype", + "increased size of the renal pelvis", + "homeostatic process", + "appendage girdle complex", + "digit phenotype", + "musculature phenotype", + "Abnormal finger morphology", + "organ phenotype", + "decreased length of manual digit", + "anatomical structure phenotype", "forelimb zeugopod skeleton", - "delayed biological_process in central nervous system", - "Abnormal forearm bone morphology", - "absent forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", - "zeugopod", - "Abnormality of the genital system", - "intramembranous bone", - "Renal hypoplasia", - "mandible hypoplasia", - "bone of lower jaw", - "neural crest-derived structure", - "dentary", - "aplasia or hypoplasia of skull", - "abnormal mouth", - "primary subdivision of skull", - "abnormal hematopoietic cell morphology", - "primary subdivision of cranial skeletal system", - "Micrognathia", - "abnormal male reproductive system", - "abnormal mouth morphology", - "cranial skeletal system", - "dermal bone", - "jaw skeleton", - "facial skeleton", - "immune system", - "facial bone", - "mandible", - "Abnormal mandible morphology", - "paired limb/fin segment", - "multi-limb segment region", - "Anemia", - "radius bone", - "Abnormality of the hand", - "decreased size of the external ear", - "agenesis of anatomical entity", - "paired limb/fin", - "skeleton of lower jaw", - "abnormal digit morphology", - "Aplasia/Hypoplasia of fingers", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "cell development", - "skeleton of manus", - "Hypertelorism", - "pectoral appendage skeleton", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "negative regulation of macromolecule biosynthetic process", - "abnormal arm", - "head", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal nose", - "Aplasia/Hypoplasia of the mandible", - "aplastic anatomical entity", - "anterior region of body", - "appendage", - "subdivision of organism along appendicular axis", - "autopod region", - "digit 1", - "Hyperactivity", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "sensory system", - "ear", - "anatomical entity hypoplasia in face", - "non-connected functional system", - "manual digit", - "Abnormal eye morphology", - "abnormal head morphology", - "Abnormality of the outer ear", - "multi-tissue structure", - "bodily fluid", - "abnormal external nose morphology", - "absent radius bone in the independent continuant", - "neck bone", - "entire sense organ system", - "continuant", - "orbital region", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormal tracheobronchial morphology", - "Aplasia/hypoplasia of the extremities", - "Hypoplastic facial bones", - "forelimb bone", - "anatomical entity hypoplasia", - "Abnormality of brain morphology", - "abnormal size of anatomical entity", - "Abnormality of the vertebral column", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "trunk", - "Macule", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "postcranial axial skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "cervical vertebra", - "jaw region", - "abnormal head", - "endochondral bone", + "dilated renal pelvis", + "negative regulation of biological process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "occurrent", "subdivision of skeleton", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "dorsal part of neck", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "Aplasia/Hypoplasia of the ear", - "external ear", - "abnormal neck morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "vertebral column", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "paired limb/fin skeleton", - "skeleton of limb", - "Delayed myelination", - "Abnormality of skin pigmentation", - "shape nose tip", - "Abnormality of globe location", - "Aplasia/Hypoplasia involving the central nervous system", - "Short neck", - "skeleton", - "cervical vertebra endochondral element", - "decreased length of neck", - "Abnormality of head or neck", - "bone of dorsum", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "endochondral bone phenotype", + "Metazoa", + "Abnormal hand morphology", "external soft tissue zone", + "skeletal system phenotype", "digit plus metapodial segment", - "abnormal autopod region morphology", + "appendage", + "anatomical entity phenotype", + "decreased length of organ", + "localised testis", + "musculoskeletal system", "Absent thumb", - "abnormal bone marrow cell morphology", "bone of free limb or fin", - "bone element", - "Abnormality of the eye", - "abnormal pes morphology", - "anatomical collection", + "cavitated compound organ phenotype", + "aplastic anatomical entity", "All", - "increased qualitatively biological_process", - "decreased size of the anatomical entity in the independent continuant", - "system", - "abnormal female reproductive system morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "neurogenesis", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "skeletal element", - "nucleic acid metabolic process", - "Abnormal myeloid cell morphology", - "leg", - "process", - "Abnormality of the ear", - "eyelid", - "Renal agenesis", - "abnormal respiratory system", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "entity", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "biological_process", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "Abnormal neck morphology", - "negative regulation of gene expression", - "response to stimulus", - "flattened anatomical entity", - "bone element hypoplasia in face", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "vestibulo-auditory system", - "protein-DNA complex organization", - "Abnormal anus morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "cell differentiation", - "appendicular skeletal system", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "manual digit morphology in the manus phenotype", + "forelimb zeugopod morphology phenotype", + "Upper limb undergrowth", + "skeleton of pectoral complex", + "paired limb/fin segment", + "absent multicellular anatomical structure", + "decreased length of endochondral bone", "Eukaryota", "negative regulation of cellular metabolic process", - "cervical region", - "dorsum", - "Abnormal nasal bridge morphology", - "erythroid lineage cell", - "non-material anatomical boundary", - "postcranial axial skeletal system", - "organelle organization", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of the gastrointestinal tract", - "quality", - "aplasia or hypoplasia of ear", - "absent external ear in the independent continuant", - "regulation of cellular biosynthetic process", - "proximo-distal subdivision of respiratory tract", - "behavior process", - "absent anatomical entity in the reproductive system", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "lateral structure", - "regulation of biological process", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal DNA metabolic process", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Depressed nasal tip", - "Abnormality of mental function", - "abnormal cellular process", - "nasal bridge", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "Webbed neck", - "Talipes", - "cellular metabolic process", - "Atypical behavior", - "simple eye", - "cellular component organization", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "midface", - "abnormal cellular component organization", - "abnormal trachea morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "negative regulation of biological process", + "abdomen element", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "forelimb endochondral element", + "Phenotypic abnormality", + "negative regulation of gene expression", + "regulation of metabolic process phenotype", + "Abnormality of the urinary system physiology", + "bone element phenotype", + "pectoral complex", + "multi-limb segment region phenotype", + "regulation of macromolecule metabolic process", + "upper limb segment phenotype", + "endochondral element phenotype", + "manual digit 1 morphology phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "closing of the subdivision of tube", + "skeleton of limb", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "musculature of manus", + "anatomical entity morphology in the pectoral complex phenotype", + "absent anatomical structure in the forelimb", + "aplasia or hypoplasia of manual digit 1", + "bone of pectoral complex phenotype", + "absent anatomical structure", + "orifice atresia", + "appendicular skeleton", + "upper limb segment", + "external soft tissue zone phenotype", + "limb phenotype", + "paired limb/fin skeleton", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "subdivision of digestive tract phenotype", + "limb bone", + "embryo phenotype", + "segment of manus", + "protein-containing material entity", + "manual digit plus metapodial segment", + "Anal atresia", + "limb endochondral element", + "agenesis of anatomical entity", + "thenar eminence hypoplasia", + "skeleton of manus", + "skeleton phenotype", + "palmar part of manus", + "Abnormal large intestine morphology", + "Aplasia/hypoplasia involving the skeleton", + "Abnormal limb bone morphology", "absent digit", - "glial cell development", - "anatomical space", - "Abnormal hindbrain morphology", - "phenotype", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal face", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormal respiratory system morphology", - "cervical region of vertebral column", - "aplasia or hypoplasia of external ear", - "pes", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "obsolete nitrogen compound metabolic process", - "lower jaw region", - "abnormal digit", - "thoracic segment of trunk", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "metabolic process", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "Abnormality of the palpebral fissures", - "pelvic region element", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "secondary palate", - "organism", - "irregular bone", - "Chromosome breakage", - "abnormal chromatin organization", - "Abnormal cellular phenotype", - "curvature anatomical entity in independent continuant", - "negative regulation of cellular process", - "abnormal limb", - "Abnormality of digestive system morphology", - "radius endochondral element", - "abnormal behavior", - "Abnormal sacrum morphology", - "aplastic manual digit 1", - "membrane bone", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", - "independent continuant", - "Microtia", - "Abnormality of the neck", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "ensheathment of neurons", - "regulation of cellular process", - "manus", - "abnormal eyelid morphology", - "cellular process", - "Abnormal digit morphology", - "neck", - "abnormal central nervous system myelination", - "organ subunit", - "negative regulation of cellular biosynthetic process", - "forelimb zeugopod bone", - "nervous system", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "abnormal anatomical entity", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "anatomical system", - "upper digestive tract", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "orifice", + "arm", + "trunk region element physiology phenotype", + "male reproductive organ phenotype", + "autopodial extension phenotype", + "manual digit", + "Abnormal cardiovascular system morphology", + "continuant", + "absent material anatomical entity in the forelimb", + "late embryo phenotype", + "regulation of cellular process phenotype", + "forelimb zeugopod", + "Abnormal appendicular skeleton morphology", "multicellular organism", "regulation of macromolecule biosynthetic process", - "female reproductive organ", - "long bone", - "material entity", - "negative regulation of biosynthetic process", - "decreased size of the penis", - "Abnormality of the lower limb", - "endochondral element", - "abnormal neck", - "abnormal brain ventricle morphology", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal behavior process", - "abnormal ear morphology", - "cellular organisms", - "Decreased anatomical entity position", - "increased size of the anatomical entity", - "limb", - "main body axis", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "axial skeletal system", - "Growth abnormality", + "muscle organ morphology phenotype", + "autopod region phenotype", + "material anatomical entity phenotype", + "forelimb long bone phenotype", "skeletal system", - "decreased size of the cerebellum", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "subdivision of vertebral column", + "Hypoplasia of the radius", + "programmed DNA elimination by chromosome breakage phenotype", + "manus phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "regulation of metabolic process", + "autopodial extension", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "mesoderm-derived structure phenotype", + "bone element", + "regulation of biological process", + "digit 1 phenotype", + "lateral structure", + "mesoderm-derived structure", + "Stage 5 chronic kidney disease", + "closing of the multicellular anatomical structure", + "organ system subdivision", + "thenar eminence phenotype", + "musculature", + "Abnormality of the thenar eminence", + "number of anatomical enitites of type organism subdivision phenotype", + "limb endochondral element phenotype", + "anatomical structure", + "paired limb/fin phenotype", + "absent multicellular anatomical structure in the multicellular organism", + "anatomical conduit phenotype", + "taxon specific phenotype", + "Abnormal rectum morphology", "absent manual digit", - "abnormal development of anatomical entity", "Abnormal thumb morphology", "subdivision of trunk", - "axon ensheathment in central nervous system", - "eye", - "compound organ", - "decreased qualitatively biological_process", - "anatomical entity", - "digit", - "Unilateral renal agenesis", - "Abnormal cerebellum morphology", - "upper limb segment", - "appendicular skeleton", - "Abnormal skeletal morphology", + "limb segment", + "forelimb morphology phenotype", + "musculature of limb", + "Abnormal cellular physiology", + "cardiovascular system", + "male reproductive system phenotype", + "aplastic manual digit 1", + "anatomical entity morphology in the manus phenotype", + "anatomical system", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "lower digestive tract", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "subdivision of digestive tract", + "regulation of cellular biosynthetic process phenotype", + "limb bone morphology phenotype", + "decreased size of the forelimb endochondral element", + "renal pelvis", "forelimb", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "abnormal primary metabolic process", - "body proper", - "abnormal opening of the anatomical entity", - "dorsal region element", - "chromatin organization", - "Reduced impulse control", - "abnormal location of external ear", - "abnormal nervous system", - "Attention deficit hyperactivity disorder", - "abnormal leg", - "craniocervical region", - "posterior region of body", - "Cleft palate", - "behavior", - "Abnormal appendicular skeleton morphology", - "Abnormal forearm morphology", - "vertebra", - "decreased length of anatomical entity in independent continuant", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal vertebral column", - "subdivision of head", - "appendage girdle complex", - "dermal skeletal element", - "subdivision of organism along main body axis", - "developmental process", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abdominal segment bone", - "abnormal facial skeleton morphology", - "material anatomical entity", - "trachea", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "abnormal skeletal system morphology", - "protein-containing material entity", - "segment of manus", - "Abnormality of the musculoskeletal system", - "organ system subdivision", - "Abnormality of the anus", - "shape anatomical entity", - "ventricular system of brain", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of digestive system physiology", - "absent anatomical entity", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal palate morphology", - "skeleton of pectoral complex", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "absent anatomical entity in the limb", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "dermal skeleton", - "aplasia or hypoplasia of manual digit 1", - "anatomical conduit", - "abnormal limb morphology", - "abdomen", - "manual digit 1 plus metapodial segment", - "trunk bone", - "bone of appendage girdle complex", - "anatomical wall", - "arm", - "mesoderm-derived structure", - "Abnormal facial skeleton morphology", + "Abnormal skeletal morphology", + "pathological phenotype observation", + "decreased size of the anatomical entity in the pectoral complex", + "digit 1 or 5", "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "system", + "regulation of gene expression phenotype", + "bone of appendage girdle complex phenotype", + "Abnormality of prenatal development or birth", + "trunk region element", + "decreased size of the manual digit", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "paired limb/fin segment phenotype", + "ectoderm-derived structure", + "decreased length of limb bone", + "Abnormal digit morphology", + "negative regulation of cellular process", "forelimb skeleton", - "delayed biological_process in independent continuant", - "digitopodium region", - "abnormal growth", - "pelvic complex", - "acropodium region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the manus", - "Finger aplasia", - "macromolecule metabolic process", - "pelvic region of trunk", - "palpebral fissure", - "fused sacrum hypoplasia", - "nucleobase-containing compound metabolic process", - "Short attention span", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal internal genitalia", - "aplasia or hypoplasia of vertebral column", - "abnormal fused sacrum morphology", - "skull", - "limb skeleton subdivision", - "Aplasia/Hypoplasia involving the vertebral column", - "abnormal craniocervical region", - "sacral region of vertebral column", - "Abnormal upper limb bone morphology", - "skin of body", - "reproductive system", - "sacral region", - "Aplasia/Hypoplasia of the sacrum", - "Global developmental delay", + "genitourinary system", + "renal pelvis phenotype", + "anatomical entity", + "phenotypic effect", + "size of anatomical entity phenotype", + "Proximal placement of thumb", + "alimentary part of gastrointestinal system phenotype", + "pectoral appendage skeleton", + "forelimb endochondral element phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", "biological regulation", "abdominal segment of trunk", - "bony pelvis", - "bone element hypoplasia in independent continuant", - "abnormal penis morphology", - "hindlimb", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", - "abnormal cellular metabolic process", - "Hypoplastic sacrum", - "aplasia or hypoplasia of fused sacrum", - "Delayed CNS myelination", - "fused sacrum", - "Neoplasm", - "Tracheoesophageal fistula", - "Abnormal jaw morphology", - "abnormal ear", - "Low-set ears", - "abnormal esophagus morphology", - "penis", - "digestive system element", - "kidney", - "abnormal biological_process", - "Growth delay", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", - "organ part", + "manus", + "thenar eminence", + "Abnormality of limbs", "regulation of gene expression", "pectoral appendage", - "respiratory system", + "Abnormality of the musculoskeletal system", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "multicellular organism morphology phenotype", + "absent multicellular anatomical structure in the limb", + "Abnormality of the musculature of the limbs", + "anatomical structure physiology phenotype", + "digit morphology phenotype", + "aplasia or hypoplasia of skeleton", + "anatomical conduit atresia", + "Deviation of finger", + "Abnormality of the skeletal system", + "Abnormality of limb bone", + "homeostatic process phenotype", + "Abnormal renal pelvis morphology", + "Aplasia/hypoplasia of the extremities", + "Short stature", + "digit 1", + "aplasia or hypoplasia of manual digit", + "Abnormality of the musculature", + "number of anatomical enitites of type material anatomical entity phenotype", + "thoracic segment of trunk", + "limb bone phenotype", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "absent organism subdivision", + "autopod region", + "decreased length of bone of pectoral complex", + "skeleton", + "anatomical collection phenotype", + "quality", + "absent anatomical structure in the limb", + "decreased length of mesoderm-derived structure", + "negative regulation of macromolecule metabolic process", + "abdominal segment element", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "Deviation of the thumb", + "regulation of biosynthetic process", + "bone of appendage girdle complex", + "absent anatomical entity", + "process", + "Abnormality of metabolism/homeostasis", + "limb morphology phenotype", + "biological regulation phenotype", + "intestine phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "external male genitalia", + "organism subdivision", + "limb segment phenotype", + "digit 1 or 5 phenotype", + "digestive system", + "anatomical entity morphology phenotype", "obsolete cell", + "decreased length of long bone", "programmed DNA elimination", - "digestive system", - "subdivision of tube", - "abnormal alimentary part of gastrointestinal system", - "oral cavity", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal respiratory system physiology", - "abnormal female reproductive organ morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "tracheobronchial tree", - "trunk region element", - "Aplasia/Hypoplasia of the external ear", - "endoderm-derived structure", - "pelvic appendage", - "respiratory tube", - "abnormal nose tip morphology", - "alimentary part of gastrointestinal system atresia", - "respiratory tract", - "forelimb endochondral element", - "primary metabolic process", - "Abnormality of the skin", - "abnormal bone marrow morphology", - "flat anatomical entity", - "lower respiratory tract", - "Abnormal esophagus morphology", - "abnormal tracheobronchial tree morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormality of respiratory system physiology", - "thoracic segment organ", - "digestive tract", - "Abnormal tracheal morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Abnormality of the respiratory system", - "central nervous system development", - "hemolymphoid system", - "esophagus", - "Abnormal location of ears", - "subdivision of digestive tract", - "delayed biological_process", - "Abnormality of the cervical spine", - "abnormal digestive system", - "tube", - "respiratory airway", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "abnormal nervous system morphology", - "Hydrocephalus", + "spatial pattern of anatomical entity phenotype", + "subdivision of tube atresia", + "multi-limb segment region", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "musculature of pectoral complex phenotype", + "decreased length of anatomical structure", + "musculature of manus phenotype", + "trunk", + "Abnormality of the musculature of the hand", + "appendage musculature", + "manus morphology phenotype", + "musculature of upper limb phenotype", + "Abnormality of the musculature of the upper limbs", + "compound organ physiology phenotype", + "Small thenar eminence", + "abdomen element physiology phenotype", + "pectoral appendage musculature phenotype", + "digit 1 plus metapodial segment", + "Abnormal renal physiology", + "Intestinal atresia", + "arm bone", + "kidney physiology phenotype", + "radius endochondral element", + "anatomical system physiology phenotype", + "abdominal segment element physiology phenotype", + "localised anatomical structure", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "cavitated compound organ physiology phenotype", + "decreased size of the organ", + "decreased size of the endochondral bone", + "Chronic kidney disease", + "renal system phenotype", + "multicellular anatomical structure physiology phenotype", + "body proper", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", - "cerebrospinal fluid", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "bone of craniocervical region", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Positional foot deformity", + "renal system physiology phenotype", + "multicellular anatomical structure phenotype", + "Renal insufficiency", + "Abnormality of the kidney", + "material anatomical entity physiology phenotype", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "multicellular anatomical structure atresia", + "excretory system", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "absent autopodial extension", + "Fetal ultrasound soft marker", + "closing of the material anatomical entity", + "circulatory system", + "subdivision of organism along main body axis", + "main body axis", + "localised multicellular anatomical structure", + "lateral structure physiology phenotype", + "renal system", + "digestive system morphology phenotype", "Abnormality of the urinary system", - "abnormal anus morphology", - "organ component layer", - "Morphological central nervous system abnormality", - "Abnormal cell morphology", - "lower limb segment", - "abnormal brain morphology", - "aplasia or hypoplasia of cerebellum", - "abnormally increased number of anatomical entity in the independent continuant", - "organism substance", - "abnormally increased number of anatomical entity", - "external ear hypoplasia", - "abnormal brain ventricle/choroid plexus morphology", - "flat anatomical entity in independent continuant", - "mouth", - "abnormal mandible morphology", - "anatomical point", - "ventricle of nervous system", - "Abnormality of limb bone", - "central nervous system", - "ventricular system of central nervous system", - "abnormal central nervous system morphology", - "transudate", - "Cafe-au-lait spot", - "increased length of the anatomical entity", - "myelination", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "abnormal location of ear", - "abnormal ocular adnexa", - "abnormal anatomical entity topology in independent continuant", - "Decreased external ear position", - "external nose", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal external ear", - "increased biological_process", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "integumental system", - "integument", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", + "renal/urinary system phenotype", + "anatomical entity hypoplasia", + "forelimb bone", + "upper urinary tract phenotype", + "decreased length of digit 1 or 5", + "decreased length of forelimb bone", + "decreased length of bone element", + "limb long bone morphology phenotype", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "Forearm undergrowth", "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "abnormal hindlimb morphology", - "abnormal integument", - "brain ventricle", - "eyeball of camera-type eye", - "abnormal anus", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "Abnormal CNS myelination", - "immaterial anatomical entity", - "penis hypoplasia", - "limb endochondral element", - "Anal atresia", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "Abnormality of the face", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "roof of mouth", - "Abnormality of the orbital region", - "visual system", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormal ocular adnexa morphology", - "Abnormal eyelid morphology", - "absent uterus", - "ectoderm-derived structure", - "Slanting of the palpebral fissure", - "reproductive organ", - "abnormal skull morphology", + "forelimb long bone", + "Abnormal forearm morphology", + "testis phenotype", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "structure with developmental contribution from neural crest", + "Abnormality of the hand", + "radius bone", + "heart", + "Limb undergrowth", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "decreased length of skeletal element", + "decreased size of the material anatomical entity", + "decreased size of the long bone", + "forelimb zeugopod bone hypoplasia", + "decreased size of the bone of pectoral complex", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Hydronephrosis", + "decreased length of organism subdivision", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "Abnormal testis morphology", + "cardiovascular system phenotype", + "decreased size of the bone of free limb or fin", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased size of the limb bone", + "multi-tissue structure", + "limb long bone phenotype", + "forelimb zeugopod bone", + "decreased length of manual digit 1 or 5", + "decreased length of multicellular anatomical structure", + "kidney", + "Growth delay", + "radius bone phenotype", + "decreased length of digit 1", + "alimentary part of gastrointestinal system morphology phenotype", + "decreased length of forelimb zeugopod bone", + "acropodium region", + "decreased size of the limb endochondral element", + "appendage musculature phenotype", + "forelimb bone phenotype", + "decreased length of limb endochondral element", + "Short forearm", + "delayed biological_process", + "decreased length of material anatomical entity", + "Abnormal upper limb bone morphology", + "closing of the anatomical system", + "decreased size of the arm bone", + "decreased size of the bone of appendage girdle complex", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "bone of pectoral complex morphology phenotype", + "negative regulation of metabolic process phenotype", + "Short finger", + "organ", + "decreased size of the anatomical structure", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the endochondral element", + "decreased length of forelimb endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "long bone phenotype", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "increased size of the anatomical structure", + "primary circulatory organ", + "localised organ", + "thoracic segment organ", + "renal pelvis/ureter", + "phenotype", + "Fetal pyelectasis", + "embryonic development/birth phenotype", + "Abnormal fetal genitourinary system morphology", + "organ part", + "external genitalia phenotype", + "multicellular organism phenotype", + "decreased length of autopodial extension", + "organ part phenotype", + "Abnormal renal morphology", + "increased size of the organ part", + "Fetal anomaly", + "renal pelvis morphology phenotype", + "anatomical cluster", + "manual digitopodium region", + "Abnormality of the male genitalia", + "upper urinary tract", + "decreased length of digit", + "anatomical conduit", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Dilatation of the renal pelvis", + "Gastrointestinal atresia", + "late embryo", + "limb", + "increased size of the anatomical entity", + "increased size of the material anatomical entity", + "biological_process", + "genitourinary system phenotype", + "dilated anatomical entity", + "embryo", + "increased size of the anatomical conduit", "anus atresia", - "abnormal palpebral fissure", - "abnormal face morphology", - "ocular adnexa", - "camera-type eye", + "Short long bone", + "reproductive organ", + "Abnormal fetal morphology", + "increased size of the multicellular anatomical structure", + "decreased length of bone of appendage girdle complex", + "Abnormal male external genitalia morphology", + "Abnormality of the genital system", + "testis", + "large intestine morphology phenotype", + "localised reproductive structure", + "reproductive system phenotype", + "Cryptorchidism", + "heart plus pericardium", + "subdivision of tube", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "reproductive structure phenotype", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "external genitalia", + "disconnected anatomical group", + "male reproductive organ", + "gonad phenotype", + "reproductive structure", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "external male genitalia phenotype", + "decreased size of the organism subdivision", + "anterior region of body", + "decreased length of manual digit 1", + "rectum phenotype", + "paired limb/fin", + "decreased size of the digit", + "Short thumb", + "Short digit", + "decreased size of the forelimb bone", + "deviation of manual digit 1", + "Abnormal morphology of the radius", + "Deviation of the hand or of fingers of the hand", + "deviation of manual digit", + "Growth abnormality", + "cardiovascular system morphology phenotype", + "decreased size of the skeletal element", + "reproductive organ phenotype", + "viscus", + "circulatory organ", + "heart morphology phenotype", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", + "tube", + "Abnormality of body height", + "size of multicellular organism phenotype", + "arm bone phenotype", "delayed growth", - "abnormal eyeball of camera-type eye", - "increased anatomical entity length in independent continuant", - "abnormal location of eyeball of camera-type eye", - "anatomical line", - "Talipes equinovarus", - "absent kidney in the renal system", - "Hypermelanotic macule", - "Abnormal foot morphology", - "Aplasia/hypoplasia of the uterus", - "Hyperpigmentation of the skin", - "Bilateral talipes equinovarus", - "aplasia or hypoplasia of mandible", - "blood cell", - "Abnormality of the genitourinary system", - "head bone", - "Aplasia/Hypoplasia involving bones of the skull", - "cell", - "Abnormality of the mouth", - "anus", - "Abnormal skull morphology", - "pectoral complex", - "dermatocranium", - "abnormal jaw skeleton morphology", - "facial bone hypoplasia", - "segmental subdivision of hindbrain", - "digit 1 or 5", - "bone of jaw", + "number of anatomical enitites of type anatomical structure phenotype", + "decreased size of the multicellular organism", + "regulation of cellular process", + "decreased height of the anatomical entity", + "growth phenotype", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", ], - "has_phenotype_count": 36, + "has_phenotype_count": 15, "highlight": None, "score": None, }, { - "id": "MONDO:0012187", + "id": "MONDO:0010953", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group J", + "name": "Fanconi anemia complementation group E", "full_name": None, "deprecated": None, - "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.", - "xref": ["DOID:0111097", "GARD:15449", "MESH:C563801", "NCIT:C129027", "OMIM:609054", "UMLS:C1836860"], + "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", + "xref": ["DOID:0111084", "GARD:15324", "MEDGEN:463628", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCJ", - "Fanconi Anemia, complementation group type J", - "Fanconi anaemia complementation group type J", - "Fanconi anemia complementation group J", - "Fanconi anemia complementation group type J", - "Fanconi anemia, complementation group J", + "FANCE", + "FANCE Fanconi anaemia", + "FANCE Fanconi anemia", + "Fanconi Anemia, complementation group type E", + "Fanconi anaemia caused by mutation in FANCE", + "Fanconi anaemia complementation group type E", + "Fanconi anemia caused by mutation in FANCE", + "Fanconi anemia complementation group E", + "Fanconi anemia complementation group type E", + "Fanconi anemia, complementation group E", + "face", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ + "HP:0001875", + "HP:0009777", + "HP:0001249", + "HP:0000086", + "HP:0000252", + "HP:0000815", + "HP:0000104", + "HP:0001017", + "HP:0001876", + "HP:0000028", + "HP:0003974", + "HP:0001873", "HP:0009778", - "HP:0005528", - "HP:0001511", - "HP:0007565", - "HP:0008897", + "HP:0001896", "HP:0000568", + "HP:0001518", "HP:0001263", "HP:0003221", + "HP:0009943", + "HP:0000978", + "HP:0001627", + "HP:0000953", + "HP:0000957", + "HP:0001903", + "HP:0001909", + "HP:0000081", + "HP:0004322", + "HP:0000486", + "HP:0000365", + "HP:0003214", + "HP:0003213", + "HP:0000085", ], "has_phenotype_label": [ + "Neutropenia", + "Absent thumb", + "Intellectual disability", + "Ectopic kidney", + "Microcephaly", + "Hypergonadotropic hypogonadism", + "Renal agenesis", + "Anemic pallor", + "Pancytopenia", + "Cryptorchidism", + "Absent radius", + "Thrombocytopenia", "Short thumb", - "Bone marrow hypocellularity", - "Intrauterine growth retardation", - "Multiple cafe-au-lait spots", - "Postnatal growth retardation", + "Reticulocytopenia", "Microphthalmia", + "Small for gestational age", "Global developmental delay", "Chromosomal breakage induced by crosslinking agents", + "Complete duplication of thumb phalanx", + "Bruising susceptibility", + "Abnormal heart morphology", + "Hyperpigmentation of the skin", + "Cafe-au-lait spot", + "Anemia", + "Leukemia", + "Duplicated collecting system", + "Short stature", + "Strabismus", + "Hearing impairment", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Horseshoe kidney", ], "has_phenotype_closure": [ - "GO:0005623", - "UPHENO:0049990", - "GO:0010629", - "GO:0065007", - "UPHENO:0050021", + "UPHENO:0041226", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0051124", + "GO:0046483", "UPHENO:0050116", - "HP:0003221", - "GO:0010468", - "GO:0031327", - "UPHENO:0049748", - "GO:0031049", - "GO:0031326", - "GO:0009890", - "GO:0031324", - 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"HP:0000152", - "UPHENO:0087907", + "UPHENO:0003025", + "UPHENO:0025553", + "UPHENO:0005513", + "BFO:0000004", + "UPHENO:0012308", "UPHENO:0001002", - "UPHENO:0087924", - "UPHENO:0000541", - "UBERON:0001456", - "UBERON:0000970", - ], - "has_phenotype_closure_label": [ - "programmed DNA elimination", - "obsolete cell", - "abnormal metabolic process", - "negative regulation of biosynthetic process", - "DNA metabolic process", - "protein-DNA complex organization", - "Abnormality of chromosome stability", - "regulation of macromolecule metabolic process", - "regulation of biosynthetic process", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal cellular metabolic process", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal cellular process", - "abnormal chromatin organization", - "Chromosome breakage", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "obsolete heterocycle metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "Chromosomal breakage induced by crosslinking agents", - "Global developmental delay", - "Neurodevelopmental abnormality", - "abnormality of anatomical entity physiology", - "nervous system", - "Abnormality of the nervous system", - "abnormal nervous system", - "Abnormal cellular physiology", - "organic substance metabolic process", - "abnormality of nervous system physiology", - "Abnormality of the head", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "cellular metabolic process", - "simple eye", - "digit 1 or 5", - "arm", - "abnormal pigmentation in independent continuant", - "abnormal head morphology", - "abnormal anatomical entity morphology in the independent continuant", - "manual digit 1 plus metapodial segment", - "manual digit 1 or 5", - "abnormal hematopoietic system", - "aplasia or hypoplasia of anatomical entity", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal limb morphology", - "macromolecule metabolic process", - "appendage girdle complex", - "abnormal cell", - "phenotype by ontology source", - "Abnormal thumb morphology", - "growth", - "bone of free limb or fin", - "abnormal autopod region morphology", - "skeleton", - "abnormal manual digit morphology in the independent continuant", - "decreased length of digit", - "changed biological_process rate in independent continuant", - "cellular process", - "Abnormal digit morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormal finger morphology", - "aplasia or hypoplasia of manual digit 1", - "appendicular skeletal system", - "endochondral element", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "forelimb skeleton", - "limb bone", - "Abnormality of multiple cell lineages in the bone marrow", - "bone of appendage girdle complex", - "Abnormality of the hand", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "mesoderm-derived structure", - "abnormal forelimb morphology", - "Irregular hyperpigmentation", - "limb endochondral element", - "phenotype", - "Abnormal cell morphology", - "Short digit", - "limb skeleton subdivision", - "delayed biological_process", - "autopod region", - "digit 1", - "aplasia or hypoplasia of manual digit", - "material anatomical entity", - "digit plus metapodial segment", - "multicellular anatomical structure", - "multi-limb segment region", - "anterior region of body", - "appendicular skeleton", - "upper limb segment", - "decreased length of manual digit", - "integumental system", - "pectoral complex", - "abnormal appendicular skeleton morphology", - "paired limb/fin skeleton", - "autopodial skeleton", - "Abnormality of the musculoskeletal system", - "appendage", - "subdivision of skeletal system", - "entity", - "abnormal limb bone morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "tissue", - "abnormal embryo development", - "abnormal craniocervical region morphology", - "Short finger", - "skeleton of manus", - "abnormal development of anatomical entity", - "abnormal digit", - "abnormal head", - "eye", - "paired limb/fin segment", - "digit", - "Hyperpigmentation of the skin", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "integument", - "abnormal manus", - "subdivision of organism along appendicular axis", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "skeletal system", - "skin of body", - "abnormal developmental process", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "disconnected anatomical group", - "hematopoietic system", - "multicellular organism", - "Abnormality of the orbital region", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "manual digit", - "Abnormal eye morphology", - "decreased length of manual digit 1", - "Neurodevelopmental delay", - "pectoral appendage", - "body proper", - "head", - "Abnormality of limb bone", - "organ system subdivision", - "digit 1 plus metapodial segment", - "abnormal arm", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "organism subdivision", - "anatomical system", - "occurrent", - "organ", - "abnormal digit morphology", - "quality", - "abnormal manus morphology", - "pectoral appendage skeleton", - "manual digit plus metapodial segment", - "negative regulation of gene expression", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abnormal anatomical entity", - "endochondral bone", - "subdivision of skeleton", - "abnormal anatomical entity length", - "bone element", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "anatomical structure", - "protein-containing material entity", - "abnormal skeletal system morphology", - "segment of manus", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "bone marrow", - "acropodium region", - "abnormal limb", - "manus", - "subdivision of organism along main body axis", - "abnormal phenotype by ontology source", - "abnormal size of anatomical entity", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Abnormal appendicular skeleton morphology", - "material entity", - "Macule", - "abnormal immune system", - "system", - "bone marrow cell", - "Abnormal cellular phenotype", - "hemolymphoid system", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "abnormal immune system morphology", - "Abnormality of blood and blood-forming tissues", - "non-connected functional system", - "abnormal cell morphology", - "immune system", - "Abnormality of the immune system", - "limb", - "Abnormality of the upper limb", - "cell", - "skeletal element", - "Bone marrow hypocellularity", - "Abnormality of the face", - "anatomical structure development", - "independent continuant", - "abnormal growth", - "decreased developmental process", - "biological_process", - "embryo development", - "decreased qualitatively developmental process", - "abnormal bone marrow cell", - "camera-type eye", - "process", - "lateral structure", - "changed developmental process rate", - "abnormal biological_process", - "eyeball of camera-type eye", - "abnormal integument", - "developmental process", - "Growth delay", - "delayed growth", - "organic cyclic compound metabolic process", - "segment of autopod", - "multicellular organism development", - "abnormal manual digit 1 morphology", - "Short thumb", - "Intrauterine growth retardation", - "changed embryo development rate", - "decreased embryo development", - "increased biological_process", - "abnormal face morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "Abnormal hand morphology", - "Localized skin lesion", - "increased pigmentation in independent continuant", - "increased pigmentation", - "regulation of cellular biosynthetic process", - "biological regulation", - "Abnormality of globe size", - "abnormal pigmentation", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "Cafe-au-lait spot", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "abnormal skin of body morphology", - "skeleton of limb", - "Abnormality of skin pigmentation", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "increased pigmentation in skin of body", - "Abnormality of the skin", - "Postnatal growth retardation", - "abnormal limb bone", - "sense organ", - "abnormal skeletal system", - "Multiple cafe-au-lait spots", - "Microphthalmia", - "Abnormal nervous system physiology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "subdivision of head", - "craniocervical region", - "main body axis", - "visual system", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", - "abnormal eyeball of camera-type eye", - "continuant", - "entire sense organ system", - "orbital region", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", - "Growth abnormality", - "face", - "Abnormality of head or neck", - "autopodial extension", - "abnormal face", - "musculoskeletal system", - "Abnormality of the eye", - ], - "has_phenotype_count": 8, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0012565", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group N", - "full_name": None, - "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.", - "xref": ["DOID:0111094", "GARD:15500", "MESH:C563657", "OMIM:610832", "UMLS:C1835817"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCN", - "Fanconi Anemia, complementation group type N", - "Fanconi anaemia caused by mutation in PALB2", - "Fanconi anaemia complementation group type N", - "Fanconi anemia caused by mutation in PALB2", - "Fanconi anemia complementation group N", - "Fanconi anemia complementation group type N", - "Fanconi anemia, complementation group N", - "PALB2 Fanconi anaemia", - "PALB2 Fanconi anemia", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0000470", - "HP:0002984", - "HP:0009777", - "HP:0002667", - "HP:0000252", - "HP:0004808", - "HP:0002885", - "HP:0001631", - "HP:0009778", - "HP:0000125", - "HP:0000568", - "HP:0001518", - "HP:0001915", - "HP:0003221", - "HP:0003006", - "HP:0000086", - "HP:0000957", - "HP:0002023", - "HP:0000316", - "HP:0008897", - "HP:0000953", - "HP:0001629", - "HP:0000085", - "HP:0000122", - "HP:0000286", - ], - "has_phenotype_label": [ - "Short neck", - "Hypoplasia of the radius", - "Absent thumb", - "Nephroblastoma", - "Microcephaly", - "Acute myeloid leukemia", - "Medulloblastoma", - "Atrial septal defect", - "Short thumb", - "Pelvic kidney", - "Microphthalmia", - "Small for gestational age", - "Aplastic anemia", - "Chromosomal breakage induced by crosslinking agents", - "Neuroblastoma", - "Ectopic kidney", - "Cafe-au-lait spot", - "Anal atresia", - "Hypertelorism", - "Postnatal growth retardation", - "Hyperpigmentation of the skin", - "Ventricular septal defect", - "Horseshoe kidney", - "Unilateral renal agenesis", - "Epicanthus", - ], - "has_phenotype_closure": [ - "UPHENO:0076761", - "UBERON:0001457", - "UPHENO:0021791", - "UPHENO:0087058", - "UPHENO:0087307", - "UBERON:0013766", - "UBERON:0000014", - "UPHENO:0075878", - "UPHENO:0087928", - "UBERON:0001711", - "HP:0032039", - "UBERON:0034921", - "HP:0000286", - "HP:0030669", - "HP:0000492", - "UPHENO:0025100", - "UPHENO:0026980", - "UPHENO:0008593", - "HP:0000122", - "UPHENO:0041075", - "HP:0000085", - "UPHENO:0041821", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", - "UPHENO:0041629", - "UPHENO:0033604", - "HP:0010438", - "UPHENO:0015282", - "HP:0008897", - "HP:0001510", - "UPHENO:0018424", - "UBERON:0006800", - "UPHENO:0072195", - "UBERON:0000015", - "UPHENO:0072194", - "UPHENO:0055730", - "HP:0100886", - "UBERON:0000466", - "UBERON:0000161", - "HP:0004378", - "UBERON:0001555", - "UBERON:0010222", - "UPHENO:0063599", - "UPHENO:0076803", - "HP:0025031", - "HP:0011121", - "HP:0000104", - "HP:0011355", - "GO:0043473", - "UPHENO:0060026", - "UPHENO:0074589", - "HP:0001000", - "UPHENO:0080662", - "UPHENO:0059829", - "UPHENO:0082682", - "UBERON:0002097", - "UBERON:0002416", - "HP:0001574", - "UPHENO:0054957", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0054970", - "HP:0001034", - "HP:0030061", - "HP:0030063", - "BFO:0000141", - "HP:0003006", - "HP:0030067", - "HP:0004376", - "HP:0030060", - "UPHENO:0000543", - "HP:0030065", - "GO:0005623", - "UBERON:8450002", - "HP:0025033", - "HP:0010786", - "UBERON:0008785", - "GO:0010558", - "UBERON:0011138", - "UBERON:0002513", - "GO:0031323", - "HP:0010935", - "UBERON:0004122", - "HP:0002898", - "HP:0011793", - "UBERON:0001008", - "UBERON:0005173", - "UPHENO:0086857", - "UBERON:0005177", - "UBERON:0002199", - "HP:0000077", - "UPHENO:0002905", - "UBERON:0002113", - "UPHENO:0012274", - "UPHENO:0085118", - "UBERON:0011143", - "UPHENO:0053580", - "UPHENO:0074228", - "HP:0009380", - "HP:0011792", - "UPHENO:0015327", - "UBERON:0019221", - "NCBITaxon:2759", - "UPHENO:0080300", - "UPHENO:0009382", - "UBERON:0002544", - "UPHENO:0046571", - "UPHENO:0076723", - "UPHENO:0008523", - "UPHENO:0087518", - "UPHENO:0001072", - "OBI:0100026", - "UPHENO:0006910", - "UPHENO:0002839", - "GO:0006807", - "UBERON:5006048", - "UPHENO:0081435", - "PATO:0000001", - "UPHENO:0080114", - "HP:0011297", - "UPHENO:0080325", - "UPHENO:0002642", - "UBERON:0015203", - "HP:0001627", - "UBERON:0012141", - "HP:0007379", - "UPHENO:0086700", - "UPHENO:0026183", - "UPHENO:0002708", - "HP:0040068", - "UBERON:0009569", - "UBERON:0002398", - "UBERON:0005451", - "UBERON:0000467", - "UPHENO:0086005", - "UBERON:0003466", - "UBERON:0010741", - "HP:0009821", - "HP:0005927", - "UPHENO:0049700", - "GO:0031327", - "HP:0002984", - "UPHENO:0085068", - "UBERON:0004708", - "UBERON:0006717", - "UPHENO:0001003", - "NCBITaxon:131567", - "UPHENO:0054261", - "HP:0001881", - "UPHENO:0076718", - "UPHENO:0069294", - "UPHENO:0080126", - "UPHENO:0081204", - "UPHENO:0086866", - "UPHENO:0003811", - "UBERON:0002102", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0076727", - "UBERON:1000021", - "UPHENO:0033559", - "UPHENO:0084763", - "HP:0001167", - "HP:0040064", - "UBERON:0006048", - "UBERON:0001245", - "UPHENO:0084448", - "UBERON:0004710", - "HP:0009824", - "UBERON:0010538", - "UPHENO:0072402", - "UPHENO:0019886", - "UPHENO:0084766", - "GO:0046483", - "UBERON:0015212", - "UPHENO:0086956", - "UPHENO:0076810", - "HP:0005773", - "CL:0000738", - "UPHENO:0082761", - "UPHENO:0010795", - "HP:0012733", - "UBERON:0003460", - "UPHENO:0087924", - "UBERON:0003607", - "UBERON:0001423", - "UBERON:0004456", - "HP:0045060", - "UPHENO:0086633", - "UBERON:0001460", - "GO:0040007", - "UPHENO:0087563", - "UBERON:0012140", - "HP:0100887", - "HP:0000152", - "UPHENO:0076799", - "HP:0000119", - "BFO:0000040", - "UBERON:0002090", - "UPHENO:0065599", - "GO:0031326", - "GO:0006259", - "UPHENO:0087510", - "UBERON:5002544", - "HP:0009726", - "UBERON:0001130", - "UBERON:0000465", - "BFO:0000004", - "UBERON:0008001", - "UBERON:0002204", - "UPHENO:0074584", - "UBERON:0001442", - "HP:0000001", - "UBERON:0006072", - "UPHENO:0087123", - "UBERON:0002085", - "HP:0001909", - "UBERON:0011249", - "UBERON:0006077", - "GO:0031052", - "UPHENO:0074572", - "UBERON:0002417", - "UPHENO:0002536", - "UPHENO:0076692", - "HP:0011017", - "NCBITaxon:33208", - "UPHENO:0050008", - "HP:0006496", - "UBERON:0001434", - "HP:0009778", - "UPHENO:0080187", - "UBERON:0013702", - "GO:0071840", - "HP:0002818", - "HP:0002813", - "HP:0011844", - "GO:0009892", - "GO:0010605", - "UBERON:0000974", - "BFO:0000002", - "HP:0012639", - "HP:0001876", - "HP:0000118", - "UBERON:0001007", - "UPHENO:0079876", - "HP:0000951", - "RO:0002577", - "UBERON:0000073", - "UBERON:0012139", - "HP:0005120", - "UPHENO:0012541", - "UPHENO:0088186", - "UBERON:0000075", - "UBERON:0010363", - "HP:0002977", - "HP:0001713", - "UBERON:0010913", - "UBERON:0005881", - "UBERON:0001062", - "UPHENO:0076941", - "UPHENO:0002764", - "UPHENO:0081451", - "UPHENO:0076724", - "UBERON:0034944", - "HP:0009121", - "HP:0005922", - "UBERON:0011216", - "UBERON:0005178", - "UPHENO:0087006", - "UPHENO:0085144", - "UBERON:0005174", - "UPHENO:0068971", - "UPHENO:0008668", - "UBERON:0002193", - "UBERON:0002412", - "HP:0007400", - "HP:0033127", - "HP:0000240", - "UPHENO:0086635", - "UBERON:0000948", - "UPHENO:0015324", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0018390", - "UBERON:0001444", - "UBERON:0002389", - "UPHENO:0087349", - "UBERON:0000468", - "UPHENO:0046538", - "UPHENO:0002635", - "BFO:0000001", - "HP:0040012", - "UPHENO:0022529", - "UBERON:0010707", - "HP:0100836", - "UBERON:0004120", - "UBERON:0015001", - "HP:0001155", - "UBERON:0004111", - "UPHENO:0080377", - "UBERON:0011137", - "UPHENO:0003074", - "UBERON:0015021", - "UBERON:0002386", - "UPHENO:0080209", - "UBERON:0000020", - "UPHENO:0076703", - "UPHENO:0075195", - "UBERON:0001084", - "UBERON:0013701", - "GO:0050789", - "UBERON:0000916", - "HP:0100542", - "UPHENO:0079872", - "UBERON:0010758", - "UBERON:0004247", - "UPHENO:0080099", - "CL:0000219", - "GO:0071704", - "UPHENO:0081313", - "UPHENO:0019890", - "UBERON:0002091", - "UPHENO:0020584", - "HP:0002817", - "UPHENO:0001001", - "GO:0044238", - "HP:0006501", - "UPHENO:0087907", - "UBERON:0000153", - "UPHENO:0049873", - "UPHENO:0086589", - "HP:0000470", - "UPHENO:0076791", - "UBERON:0001440", - "HP:0025668", - "UPHENO:0080079", - "HP:0007364", - "UPHENO:0001002", - "UBERON:0001137", - "UBERON:0000033", - "UPHENO:0046540", - "GO:0090304", - "UBERON:0000955", - "UBERON:0010703", - "GO:0009987", - "HP:0000953", - "UPHENO:0076740", - "UPHENO:0086863", - "UBERON:0005434", - "UBERON:0002529", - "CL:0000000", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002813", - "UPHENO:0001005", - "HP:0040195", - "UPHENO:0019888", - "UBERON:0012477", - "HP:0001172", - "UBERON:0011676", - "HP:0002973", - "UPHENO:0002803", - "UPHENO:0002934", - "UBERON:0005172", - "CL:0001035", - "UBERON:0003458", - "UBERON:0003103", - "UBERON:0034925", - "UBERON:0015007", - "UPHENO:0075655", - "UBERON:0011582", - "HP:0040072", - "UBERON:0010912", - "HP:0000925", - "CL:0000225", - "UPHENO:0086644", - "HP:0003319", - "UPHENO:0046505", - "UBERON:0000062", - "UPHENO:0026506", - "UPHENO:0082794", - "UBERON:0007811", - "UBERON:5002389", - "UPHENO:0086049", - "HP:0009815", - "UPHENO:0033572", - "GO:0010556", - "UBERON:0007272", - "UBERON:0010740", - "UPHENO:0081792", - "UBERON:0002428", - "UPHENO:0004459", - "HP:0011314", - "UBERON:0006058", - "GO:0048519", - "PR:000050567", - "HP:0001915", - "UPHENO:0081091", - "HP:0009826", - "UBERON:0000026", - "UBERON:0003606", - "UBERON:0002405", - "UBERON:0002101", - "UBERON:0002081", - "UBERON:0010712", - "UBERON:0019231", - "UPHENO:0002844", - "UBERON:0002470", - "UPHENO:0081790", - "CL:0000151", - "UBERON:0003037", - "UBERON:0035639", - "UPHENO:0025211", - "UBERON:0000061", - "UBERON:0004151", - "GO:1901360", - "HP:0009777", - "HP:0002488", - "HP:0003026", - "HP:0001671", - "UBERON:0010708", - "UBERON:0000019", - "UBERON:0010000", - "HP:0000316", - "HP:0011794", - "UBERON:0002390", - "UPHENO:0002880", - "UBERON:0012475", - "UPHENO:0085195", - "HP:0002667", - "HP:0002664", - "HP:0002023", - "HP:0006265", - "UPHENO:0078606", - "HP:0000234", - "HP:0000957", - "UBERON:0000481", - "UBERON:0001016", - "HP:0009115", - "UPHENO:0004523", - "NCBITaxon:1", - "UBERON:0001017", - "UBERON:0000475", - "UPHENO:0076702", - "UBERON:0002413", - "CL:0000988", - "NCBITaxon:33154", - "UBERON:0000970", - "UBERON:0001893", - "UBERON:0002082", - "UPHENO:0087501", - "GO:0006725", - "UBERON:0001890", - "UPHENO:0080200", - "UPHENO:0086172", - "UBERON:0000489", - "UBERON:0010323", - "UPHENO:0074575", - "UPHENO:0046707", - "UPHENO:0087472", - "HP:0000924", - "UBERON:0004121", - "UPHENO:0020888", - "GO:0008150", - "HP:0000252", - "UPHENO:0086855", - "UPHENO:0075220", - "HP:0002011", - "UPHENO:0075902", - "UPHENO:0015280", - "GO:0016043", - "UBERON:0001712", - "UBERON:0004451", - "UPHENO:0076805", - "UBERON:0000047", - "HP:0025461", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "UBERON:0002616", - "HP:0012443", - "HP:0004377", - "UPHENO:0002948", - "HP:0002715", - "CL:0000255", - "CL:0002242", - "UPHENO:0002832", - "HP:0032251", - "HP:0025354", - "HP:0001629", - "UBERON:0034923", - "HP:0001871", - "HP:0009601", - "HP:0002885", - "HP:0040070", - "HP:0100006", - "HP:0004375", - "HP:0001626", - "GO:0010629", - "HP:0001631", - "UBERON:0010314", - "HP:0001873", - "UBERON:0011584", - "UPHENO:0084987", - "UPHENO:0015303", - "UPHENO:0050113", - "UBERON:0002099", - "HP:0011994", - "UPHENO:0049874", - "UPHENO:0015329", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "HP:0000464", - "UBERON:0000915", - "UPHENO:0002833", - "UPHENO:0010763", - "UBERON:0005181", - "UBERON:0005944", - "UPHENO:0003020", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0015228", - "UPHENO:0080362", - "NCBITaxon:6072", - "UPHENO:0076776", - "UBERON:0001009", - "HP:0030680", - "GO:0009889", - "UBERON:0007100", - "HP:0011927", - "GO:0006325", - "UPHENO:0046411", - "UBERON:0004381", - "UPHENO:0011498", - "UPHENO:0046624", - "HP:0009381", - "UPHENO:0087427", - "UPHENO:0076779", - "UPHENO:0085344", - "UBERON:0004765", - "UPHENO:0053588", - "UPHENO:0063722", - "HP:0004808", - "UPHENO:0049367", - "UPHENO:0075997", - "UBERON:0002371", - "UBERON:0002471", - "UPHENO:0081755", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "HP:0000086", - "HP:0006503", - "UBERON:0002104", - "HP:0008056", - "UBERON:0010230", - "HP:0002060", - "HP:0012372", - "HP:0000315", - "UPHENO:0085189", - "UPHENO:0020041", - "HP:0000271", - "UBERON:0001474", - "CL:0000329", - "HP:0000125", - "UPHENO:0002910", - "HP:0000478", - "UBERON:0001456", - "UPHENO:0069523", - "UBERON:5001463", - "UPHENO:0021474", - "UBERON:0000025", - "UBERON:0004088", - "UPHENO:0075219", - "UPHENO:0077426", - "HP:0000568", - "CL:0000458", - "UPHENO:0054299", - "HP:0100547", - "HP:0001518", - "BFO:0000003", - "HP:0001507", - "UPHENO:0049587", - "BFO:0000015", - "UPHENO:0031839", - "HP:0004325", - "HP:0004323", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "HP:0012145", - "UPHENO:0081466", - "CL:0002092", - "HP:0020047", - "UPHENO:0087355", - "CL:0000457", - "UBERON:0000064", - "CL:0000081", - "CL:0000763", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "CL:0000233", - "UPHENO:0086854", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0085984", - "HP:0034915", - "UPHENO:0087339", - "UPHENO:0087089", - "CL:0000764", - "UBERON:0015410", - "UPHENO:0086173", - "UPHENO:0063565", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0084761", - "HP:0001872", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "HP:0000929", - "GO:0034641", - "UPHENO:0085070", - "GO:0065007", - "UBERON:0000479", - "UPHENO:0002896", - "GO:0043933", - "HP:0008678", - "GO:0006996", - "UPHENO:0050845", - "HP:0001939", - "HP:0000079", - "GO:0048523", - "GO:0060255", - "HP:0003220", - "GO:0043170", - "GO:0006139", - "UBERON:0002094", - "GO:0019222", - "GO:0050794", - "GO:0008152", - "GO:0071824", - "GO:0031324", - "GO:0009890", - "UBERON:0002075", - "GO:0031049", - "HP:0000707", - "UPHENO:0049748", - "UPHENO:0000541", - "GO:0010468", - "UBERON:0012180", - "HP:0003221", - "UPHENO:0050116", - "UPHENO:0050021", - "UPHENO:0050121", - "UPHENO:0049990", - ], - "has_phenotype_closure_label": [ - "skin of head", - "eyelid", - "increased length of the epicanthal fold", - "ocular adnexa", - "abnormal zone of skin morphology", - "abnormal skin of face morphology", - "Abnormal eyelid morphology", - "abnormal skin of head morphology", - "upper eyelid", - "Abnormal ocular adnexa morphology", - "epicanthal fold", - "abnormal ocular adnexa", - "Abnormality of the ocular adnexa", - "absent anatomical entity in the renal system", - "Renal agenesis", - "absent kidney", - "Horseshoe kidney", - "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", - "Abnormal ventricular septum morphology", - "interventricular septum", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal interventricular septum morphology", - "delayed biological_process", - "Postnatal growth retardation", - "anatomical line", - "immaterial anatomical entity", - "abnormal location of eyeball of camera-type eye", - "multi organ part structure", - "increased length of the anatomical line between pupils", - "Hypertelorism", - "increased anatomical entity length in independent continuant", - "Abnormality of globe location", - "tube", - "abnormal closing of the anatomical entity", - "Abnormality of the anus", - "digestive tract", - "anatomical entity atresia", - "abnormal integument", - "abnormal pigmentation in independent continuant", - "changed biological_process rate in independent continuant", - "absent kidney in the renal system", - "Hypermelanotic macule", - "Abnormality of skin morphology", - "abnormal skin of body", - "pigmentation", - "Macule", - "Abnormality of skin pigmentation", - "increased qualitatively biological_process", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "increased pigmentation in independent continuant", - "Localized skin lesion", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "integument", - "integumental system", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased biological_process in skin of body", - "increased biological_process", - "changed biological_process rate", - "limb long bone", - "zeugopodial skeleton", - "regional part of nervous system", - "abnormal genitourinary system", - "Neoplasm", - "excretory system", - "abnormal kidney", - "abnormal central nervous system morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "Embryonal renal neoplasm", - "Abnormality of the upper urinary tract", - "Abnormality of the eye", - "trunk region element", - "pectoral complex", - "acropodium region", - "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal immune system morphology", - "compound organ", - "eye", - "autopodial skeleton", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 1 morphology", - "Short thumb", - "absent anatomical entity", - "absent anatomical entity in the independent continuant", - "regulation of biosynthetic process", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", - "cellular process", - "Hematological neoplasm", - "Medulloblastoma", - "agenesis of anatomical entity", - "digit", - "abnormal digit morphology", - "skeleton of manus", - "abnormal digit", - "cellular organisms", - "thoracic segment of trunk", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "Absent thumb", - "abnormal autopod region morphology", - "aplastic anatomical entity", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "interatrial septum", - "abnormal manus", - "Nephroblastoma", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal appendicular skeleton morphology", - "manual digit", - "Abnormal eye morphology", - "Abnormal morphology of the radius", - "zone of skin", - "forelimb skeleton", - "genitourinary system", - "forelimb zeugopod", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal digestive system", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "paired limb/fin skeleton", - "arm", - "bone of appendage girdle complex", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "manual digit plus metapodial segment", - "macromolecule metabolic process", - "appendicular skeleton", - "Unilateral renal agenesis", - "upper limb segment", - "head or neck skin", - "abnormal forelimb zeugopod bone", - "lateral structure", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "aplasia or hypoplasia of skeleton", - "cardiac ventricle", - "abnormal craniocervical region", - "increased size of the anatomical entity", - "limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "cell", - "mesoderm-derived structure", - "Anal atresia", - "limb endochondral element", - "Short forearm", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "bone element hypoplasia in independent continuant", - "leukocyte", - "appendicular skeletal system", - "multi-limb segment region", - "Abnormality of head or neck", - "organism", - "irregular bone", - "postcranial axial skeleton", - "digit plus metapodial segment", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "anatomical collection", - "All", - "decreased size of the anatomical entity in the independent continuant", - "bone element", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal anatomical entity", - "cervical vertebra endochondral element", - "decreased length of neck", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "aplastic manual digit 1", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", - "independent continuant", - "abnormal leukocyte morphology", - "abnormal growth", - "Neoplasm by histology", - "endochondral element", - "abnormal neck", - "Abnormality of the neck", - "orifice", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "musculoskeletal system", - "abnormal cellular metabolic process", - "limb skeleton subdivision", - "skull", - "organ", - "abnormal cardiac septum morphology", - "occurrent", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "anatomical system", - "abnormal neck morphology", - "skeleton of limb", - "Abnormal forearm bone morphology", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "arm bone", - "increased pigmentation", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "entity", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "decreased length of anatomical entity", - "bone of pectoral complex", - "abnormal limb bone morphology", - "abnormal anatomical entity topology in independent continuant", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "thoracic segment organ", - "Abnormal cellular immune system morphology", - "skeletal element", - "zeugopod", - "U-shaped kidney", - "digit 1 or 5", - "dorsal part of neck", - "abnormal interatrial septum morphology", - "primary circulatory organ", - "Abnormal myeloid cell morphology", - "dorsum", - "cervical region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormal eyelid morphology", - "manus", - "subdivision of organism along main body axis", - "Neoplasm of the genitourinary tract", - "abnormal vertebral column", - "Abnormality of the vertebral column", - "bone of dorsum", - "bone marrow", - "Abnormal cardiac atrium morphology", - "abnormally decreased number of myeloid cell", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "vertebral column", - "telencephalon", - "abnormal opening of the anatomical entity", - "dorsal region element", - "Abnormality of skull size", - "body proper", - "organ system subdivision", - "erythrocyte", - "abnormal blood cell", - "absent digit", - "nucleobase-containing compound metabolic process", - "phenotype", - "Abnormal cell morphology", - "main body axis", - "abnormal kidney morphology", - "quality", - "abnormal forelimb zeugopod morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "appendage", - "root", - "Malignant neoplasm of the central nervous system", - "abnormally decreased number of hematopoietic cell", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Microphthalmia", - "material anatomical entity", - "renal system", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", - "abnormal renal system", - "Peripheral primitive neuroectodermal neoplasm", - "abnormal anus", - "Neuroectodermal neoplasm", - "skeletal system", - "abnormal cardiac ventricle morphology", - "motile cell", - "manual digit 1 plus metapodial segment", - "abdomen", - "aplasia or hypoplasia of manual digit 1", - "system", - "circulatory system", - "bone marrow cell", - "continuant", - "neck bone", - "entire sense organ system", - "abnormal craniocervical region morphology", - "cervical vertebra", - "abnormal telencephalon morphology", - "Embryonal neoplasm", - "skeleton", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "craniocervical region", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "Abnormal thumb morphology", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "subdivision of vertebral column", - "absent manual digit", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "Abnormal finger morphology", - "abnormal digestive system morphology", - "abnormal forelimb morphology", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "Abnormal hand morphology", - "Metazoa", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "zone of organ", - "tissue", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "endochondral bone", - "Aplasia/Hypoplasia of the radius", - "neck", - "abnormal size of anatomical entity", - "Upper limb undergrowth", - "Abnormality of thrombocytes", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormality of the hand", - "radius bone", - "abnormal DNA metabolic process", - "forelimb zeugopod bone hypoplasia", - "skin of eyelid", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "subdivision of organism along appendicular axis", - "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Abnormal neck morphology", - "negative regulation of gene expression", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "appendage girdle complex", - "subdivision of head", - "abnormal face", - "forelimb bone", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the pectoral complex", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "head", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "obsolete cellular aromatic compound metabolic process", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal limb bone", - "Abnormal nervous system morphology", - "sense organ", - "limb bone", - "Neuroblastoma", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "limb segment", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Nervous tissue neoplasm", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "Abnormality of limb bone morphology", - "manual digit 1", - "Decreased body weight", - "autopodial extension", - "regulation of metabolic process", - "regulation of cellular metabolic process", - "Abnormality of limbs", - "Abnormality of the kidney", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "blood cell", - "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "Renal neoplasm", - "Urinary tract neoplasm", - "abnormal anatomical entity morphology in the heart", - "Abnormal renal morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "abnormal nervous system", - "abnormal forebrain morphology", - "Neuroblastic tumor", - "multi-tissue structure", - "Aplastic anemia", - "abnormal nervous system morphology", - "Leukemia", - "abnormal cell morphology", - "abnormal anus morphology", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "anus", - "Abnormal skull morphology", - "abnormal anatomical entity morphology in the brain", - "Primitive neuroectodermal tumor", - "visual system", - "Decreased head circumference", - "cranial skeletal system", - "abnormal head morphology", - "Pancytopenia", - "abnormal head", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "Abnormality of limb bone", - "central nervous system", - "skin of face", - "regional part of brain", - "forelimb long bone", - "abnormal size of skull", - "forelimb", - "Abnormal forebrain morphology", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "aplasia or hypoplasia of eyeball of camera-type eye", - "sensory system", - "anus atresia", - "Short long bone", - "abnormal skull morphology", - "abnormal immune system", - "Acute leukemia", - "camera-type eye", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "hemolymphoid system", - "nucleate cell", - "Neuroepithelial neoplasm", - "non-connected functional system", - "Abnormal immune system morphology", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Acute myeloid leukemia", - "Short digit", - "Abnormality of the immune system", - "immune system", - "disconnected anatomical group", - "abnormal cell", - "abnormal hematopoietic system", - "Neoplasm of the central nervous system", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "Ectopic kidney", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal cardiovascular system morphology", - "heart plus pericardium", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "organ part", - "abnormal incomplete closing of the anatomical entity", - "biological_process", - "cardiac atrium", - "vertebral element", - "viscus", - "circulatory organ", - "Abnormal forearm morphology", - "vertebra", - "Small for gestational age", - "Abnormal heart morphology", - "abnormal cardiovascular system", - "paired limb/fin segment", - "septum", - "subdivision of skeleton", - "Abnormal cardiac septum morphology", - "aplasia or hypoplasia of radius bone", - "abnormal long bone morphology", - "abnormal heart morphology", - "abnormal incomplete closing of the interatrial septum", - "obsolete nitrogen compound metabolic process", - "abnormal cardiac atrium morphology", - "Short finger", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "cervical region of vertebral column", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "abnormally localised anatomical entity", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Abnormal anus morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "Abnormal localization of kidney", - "aplasia or hypoplasia of manual digit", - "cardiac chamber", - "face", - "abnormal orbital region", - "axial skeletal system", - "Growth abnormality", - "Pelvic kidney", - "abnormal pigmentation", - "heart", - "Abnormality of the head", - "organic substance metabolic process", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "abnormal renal system morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormality of the face", - "Abnormality of the orbital region", - "abnormal size of eyeball of camera-type eye", - "multicellular organism", - "Thrombocytopenia", - "regulation of macromolecule biosynthetic process", - "orbital region", - "abdominal segment of trunk", - "biological regulation", - "regulation of cellular biosynthetic process", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "decreased length of forelimb zeugopod bone", - "eyeball of camera-type eye", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "abnormality of anatomical entity mass", - "Short neck", - "Aplasia/Hypoplasia involving the central nervous system", - "decreased multicellular organism mass", - "Abnormal atrial septum morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormality of multicellular organism mass", - "Growth delay", - "kidney", - "abnormal biological_process", - "Decreased multicellular organism mass", - "abnormally decreased number of cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "myeloid cell", - "platelet", - "Abnormality of bone marrow cell morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "cardiac septum", - "anucleate cell", - "oxygen accumulating cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal myeloid cell morphology", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "cavitated compound organ", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "abnormal primary metabolic process", - "cellular component organization", - "obsolete cellular nitrogen compound metabolic process", - "postcranial axial skeletal system", - "organelle organization", - "negative regulation of biological process", - "regulation of cellular process", - "Chromosome breakage", - "abnormal chromatin organization", - "secretory cell", - "abnormal cellular process", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", - "regulation of gene expression", - "metabolic process", - "abnormal organelle organization", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal cellular component organization", - "protein-containing complex organization", - "nucleic acid metabolic process", - "abnormal limb", - "negative regulation of cellular process", - "shape kidney", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abnormal incomplete closing of the interventricular septum", - "regulation of macromolecule metabolic process", - "protein-DNA complex organization", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "material entity", - "long bone", - "negative regulation of biosynthetic process", - "abnormal metabolic process", - "digestive system", - "obsolete cell", - "decreased length of long bone", - "programmed DNA elimination", - ], - "has_phenotype_count": 25, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0013499", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", - "full_name": None, - "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCP", - "Fanconi Anemia, complementation group type P", - "Fanconi anaemia caused by mutation in SLX4", - "Fanconi anaemia caused by mutation in Slx4", - "Fanconi anaemia complementation group type P", - "Fanconi anemia caused by mutation in SLX4", - "Fanconi anemia caused by mutation in Slx4", - "Fanconi anemia complementation group type P", - "Fanconi anemia, complementation group P", - "SLX4 Fanconi anaemia", - "SLX4 Fanconi anemia", - "Slx4 Fanconi anaemia", - "Slx4 Fanconi anemia", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002984", - "HP:0009777", - "HP:0000957", - "HP:0000252", - "HP:0001510", - "HP:0000581", - "HP:0001876", - "HP:0000347", - "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0002860", - "HP:0001045", - ], - "has_phenotype_label": [ - "Hypoplasia of the radius", - "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Growth delay", - "Blepharophimosis", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Squamous cell carcinoma", - "Vitiligo", - ], - "has_phenotype_closure": [ - "HP:0002860", - "HP:0008069", - "HP:0000086", - "UBERON:0005156", - "GO:0032504", - "HP:0012243", - "UPHENO:0050101", - "UPHENO:0078452", - "UBERON:0003101", - "UPHENO:0049701", - "UBERON:0004054", - "UBERON:0000473", - "UPHENO:0085873", - "UPHENO:0049367", - "UPHENO:0086198", - "GO:0022414", - "UBERON:0004176", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "HP:0000035", - "HP:0000078", - "UPHENO:0002371", - "UPHENO:0086201", - "UPHENO:0003055", - "HP:0000811", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0005016", - "UBERON:0000463", - "UPHENO:0078729", - "HP:0008669", - "CL:0000408", - "UPHENO:0085194", - "UPHENO:0049940", - "UPHENO:0052778", - "HP:0000032", - "UBERON:0001968", - "GO:0000003", - "UPHENO:0087802", - "GO:0019953", - "GO:0003006", - "GO:0048609", - "UPHENO:0002378", - "UPHENO:0049985", - "GO:0007283", - "GO:0007276", - "UPHENO:0049970", - "UPHENO:0002598", - "CL:0000586", - "GO:0048232", - "UPHENO:0087547", - "UPHENO:0052178", - "UPHENO:0050625", - "HP:0012874", - "UPHENO:0002332", - "HP:0000028", - "UPHENO:0052231", - "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", - "UBERON:0002105", - "UPHENO:0005433", - "UPHENO:0081424", - "UPHENO:0080351", - "UPHENO:0081423", - "UPHENO:0075159", - "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "GO:0010558", - "GO:0006325", - "UPHENO:0049700", - "GO:0031049", - "GO:0010556", - "GO:0009890", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0008152", - "HP:0000365", - "GO:0009987", - "GO:0050789", - "GO:0044238", - "HP:0031704", - "GO:0006807", - "UPHENO:0085875", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0046483", - "GO:0032501", - "UBERON:0013701", - "UBERON:0000073", - "GO:0034641", - "HP:0000929", - "HP:0009121", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0020888", - "GO:0043473", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0008523", - "UPHENO:0087518", - "NCBITaxon:1", - "UPHENO:0082682", - "GO:0060255", - "UBERON:0002097", - "UBERON:0002193", - "UBERON:0000004", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0054970", - "UBERON:0001016", - "HP:0001034", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0030791", - "UBERON:0007811", - "UPHENO:0026506", - "HP:0002977", - "UBERON:0010363", - "UBERON:0019221", - "NCBITaxon:2759", - "UBERON:5001463", - "UBERON:0002544", - "UPHENO:0002905", - "UBERON:0002199", - "HP:0000077", - "UPHENO:0076723", - "NCBITaxon:131567", - "UPHENO:0006910", - "UBERON:0003133", - "UBERON:5006048", - "UPHENO:0081435", - "HP:0000364", - "UPHENO:0021791", - "PATO:0000001", - "HP:0000234", - "UPHENO:0080114", - "HP:0011297", - "UBERON:0015001", - "HP:0001155", - "UPHENO:0080325", - "UBERON:0015203", - "UPHENO:0002642", - "UBERON:0012141", - "CL:0000738", - "UPHENO:0088116", - "UPHENO:0086700", - "NCBITaxon:33154", - "UBERON:0000970", - "UBERON:0004742", - "UPHENO:0026183", - "UPHENO:0002708", - "HP:0040068", - "UBERON:0005451", - "UBERON:0002416", - "UBERON:0012128", - "UPHENO:0053588", - "UPHENO:0002240", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0004053", - "UPHENO:0086005", - "UPHENO:0069254", - "UBERON:0003466", - "UBERON:0008785", - "UBERON:0010741", - "HP:0002692", - "UBERON:0004756", - "UBERON:0000062", - "UPHENO:0076702", - "UBERON:0000475", - "HP:0009821", - "UPHENO:0050008", - "HP:0006496", - "UBERON:0001434", - "UPHENO:0087973", - "HP:0004322", - "UPHENO:0075878", - "HP:0009778", - "HP:0005927", - "GO:0031327", - "HP:0002984", - "UPHENO:0046505", - "UPHENO:0041465", - "UPHENO:0001002", - "UBERON:0010708", - "UBERON:0000019", - "UPHENO:0080382", - "HP:0001000", - "UBERON:0000020", - "UBERON:0002386", - "HP:0001877", - "HP:0012733", - "UBERON:0003460", - "UPHENO:0080087", - "UBERON:0006717", - "UPHENO:0001003", - "HP:0100547", - "HP:0002011", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0002833", - "UPHENO:0078606", - "HP:0006265", - "GO:0071704", - "UBERON:0011159", - "HP:0000153", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0018390", - "UBERON:0001444", - "UPHENO:0088162", - "UBERON:0004710", - "UPHENO:0084448", - "UBERON:0011249", - "GO:0044237", - "UPHENO:0088166", - "HP:0007364", - "UPHENO:0080079", - "HP:0011844", - "GO:0009892", - "RO:0002577", - "HP:0000951", - "UPHENO:0002828", - "UPHENO:0084457", - "UPHENO:0009382", - "UPHENO:0080300", - "UBERON:0000153", - "UPHENO:0084766", - "UBERON:0015212", - "BFO:0000040", - "UBERON:0001442", - "UPHENO:0074584", - "UBERON:0012140", - "CL:0001035", - "UPHENO:0086633", - "UBERON:0011156", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0000957", - "UBERON:0000481", - "UBERON:0013702", - "UPHENO:0080187", - "UBERON:0003113", - "BFO:0000004", - "HP:0001574", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0080352", - "UBERON:0000075", - "UBERON:0000955", - "UBERON:0010703", - "HP:0000436", - "HP:0000025", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "UPHENO:0081204", - "UBERON:0001017", - "HP:0000002", - "HP:0000953", - "UPHENO:0076740", - "UBERON:0002514", - "UBERON:0012139", - "UPHENO:0012541", - "HP:0009601", - "UBERON:0003607", - "HP:0011961", - "GO:0043170", - "HP:0010938", - "HP:0008050", - "CL:0000151", - "HP:0001045", - "HP:0040070", - "UBERON:0002513", - "UBERON:0011138", - "GO:0031323", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0001711", - "UPHENO:0053298", - "UBERON:0000165", - "UPHENO:0076703", - "HP:0033127", - "HP:0007400", - "UBERON:0006048", - "UBERON:5002544", - "UPHENO:0087510", - "BFO:0000002", - "HP:0012639", - "UPHENO:0081790", - "UPHENO:0084763", - "UBERON:0007272", - "UPHENO:0031839", - "HP:0011314", - "UPHENO:0012274", - "UPHENO:0085118", - "UBERON:0002113", - "HP:0011121", - "HP:0000027", - "UPHENO:0069294", - "CL:0000019", - "HP:0003026", - "UPHENO:0085068", - "UBERON:0004708", - "UPHENO:0050108", - "HP:0000414", - "UPHENO:0075195", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002389", - "UBERON:0000468", - "UPHENO:0046538", - "UPHENO:0087349", - "UBERON:0002101", - "UPHENO:0021517", - "HP:0000001", - "UPHENO:0087950", - "UPHENO:0081313", - "UPHENO:0087006", - "UPHENO:0085144", - "GO:0007600", - "UPHENO:0041075", - "UPHENO:0076791", - "UPHENO:0086589", - "HP:0002817", - "UPHENO:0001001", - "UPHENO:0059829", - "UPHENO:0087846", - "UBERON:0001555", - "HP:0006501", - "UPHENO:0003811", - "UBERON:0002102", - "UPHENO:0080662", - "HP:0009777", - "UBERON:0004921", - "UBERON:0004120", - "HP:0040064", - "HP:0001167", - "HP:0040012", - "UPHENO:0022529", - "UBERON:0010707", - "UBERON:0005881", - "UBERON:0001062", - "HP:0001873", - "UBERON:0010314", - "HP:0005922", - "UBERON:0004175", - "UBERON:0011216", - "BFO:0000141", - "UPHENO:0085874", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0002536", - "HP:0011017", - "NCBITaxon:33208", - "UBERON:0013765", - "HP:0001876", - "HP:0000118", - "GO:1901360", - "UBERON:0000061", - "UBERON:0035639", - "UBERON:0001890", - "HP:0045060", - "BFO:0000001", - "UPHENO:0002635", - "HP:0000080", - "UBERON:0010712", - "UBERON:0000026", - "HP:0009826", - "UPHENO:0081755", - "UBERON:0002471", - "UPHENO:0075198", - "UBERON:0002529", - "UBERON:0001423", - "UBERON:0004456", - "UPHENO:0074589", - "UPHENO:0076727", - "UBERON:0002428", - "UPHENO:0054957", - "UPHENO:0086956", - "UPHENO:0021561", - "UBERON:0002405", - "UBERON:0003606", - "HP:0009115", - "UPHENO:0004523", - "UBERON:0010758", - "UPHENO:0079872", - "UBERON:0002495", - "UBERON:0003278", - "UPHENO:0002751", - "UPHENO:0002880", - "UBERON:0012475", - "UPHENO:0085195", - "UBERON:0010000", - "UPHENO:0054577", - "UBERON:0002390", - "UPHENO:0082444", - "UBERON:0002204", - "UBERON:0000465", - "UBERON:0001440", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0040195", - "GO:0090304", - "UPHENO:0046540", - "UBERON:0001893", - "HP:0005773", - "HP:0000366", - "UPHENO:0080126", - "HP:0002060", - "CL:0000988", - "UPHENO:0005651", - "UPHENO:0076718", - "HP:0000924", - "UBERON:0004121", - "UPHENO:0088170", - "UPHENO:0081792", - "UBERON:0010740", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0001460", - "GO:0040007", - "UBERON:0002091", - "UPHENO:0081314", - "UPHENO:0020584", - "GO:0003008", - "UBERON:0010538", - "HP:0009824", - "UBERON:0034925", - "UBERON:0000991", - "UBERON:0005944", - "UPHENO:0004459", - "HP:0001903", - "UBERON:0011582", - "HP:0040072", - "UBERON:0010912", - "CL:0000225", - "UBERON:0002090", - "UPHENO:0083646", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0086172", - "HP:0000152", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0080377", - "UBERON:0004111", - "UBERON:0011137", - "UPHENO:0087472", - "UPHENO:0074575", - "UPHENO:0046707", - "UPHENO:0003085", - "UBERON:0000033", - "HP:0000252", - "NCBITaxon:6072", - "UBERON:0000047", - "HP:0025461", - "HP:0000812", - "UPHENO:0086635", - "HP:0000240", - "UBERON:0012354", - "BFO:0000020", - "UPHENO:0081566", - "UBERON:0002616", - "UPHENO:0026181", - "UBERON:0001032", - "UPHENO:0002964", - "HP:0012443", - "HP:0001507", - "UPHENO:0086023", - "HP:0001510", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0001456", - "HP:0005105", - "UPHENO:0000543", - "UPHENO:0049874", - "HP:0030669", - "HP:0006503", - "UBERON:0002104", - "UBERON:0003462", - "UBERON:0034921", - "UBERON:0011584", - "UPHENO:0084987", - "HP:0032039", - "UBERON:0001819", - "UPHENO:0080200", - "HP:0200007", - "HP:0000315", - "UPHENO:0085189", - "HP:0045025", - "UPHENO:0041821", - "UPHENO:0020041", - "HP:0000271", - "UBERON:0001474", - "CL:0000329", - "HP:0000125", - "UPHENO:0002910", - "HP:0010461", - "UPHENO:0054567", - "HP:0012745", - "HP:0000492", - "UPHENO:0075220", - "UPHENO:0086595", - "UPHENO:0046753", - "UBERON:0003103", - "UPHENO:0034770", - "HP:0001939", - "UPHENO:0050845", - "UBERON:0034923", - "UBERON:0000161", - "UPHENO:0084761", - "HP:0001872", - "UPHENO:0076761", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "HP:0012145", - "UPHENO:0002903", - "UPHENO:0081466", - "CL:0002092", - "HP:0020047", - "UPHENO:0020950", - "HP:0000581", - "UPHENO:0085344", - "UPHENO:0076779", - "UPHENO:0087123", - "UPHENO:0081788", - "UPHENO:0087355", - "CL:0000457", - 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"UBERON:0001007", - "HP:0025031", - "HP:0000347", - "UPHENO:0076803", - "HP:0009122", - "UPHENO:0081091", - "UPHENO:0080165", - "UBERON:0010313", - "CL:0000015", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0011595", - "HP:0011793", - "UBERON:0003135", - "HP:0009116", - "HP:0025033", - "UBERON:0004768", - "UPHENO:0081141", - "UBERON:0001684", - "UBERON:0015021", - "UBERON:0001708", - "UPHENO:0002896", - "GO:0043933", - "UBERON:0011158", - "HP:0034261", - "GO:0006725", - "UPHENO:0087501", - "UPHENO:0076800", - "UPHENO:0076692", - "UPHENO:0069249", - "UBERON:0012360", - "HP:0009118", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0000277", - "UPHENO:0046411", - "HP:0002664", - "UPHENO:0053644", - "UBERON:0007842", - "UPHENO:0087924", - "UBERON:0007914", - "HP:0011821", - "UBERON:0004088", - "UBERON:0000025", - "UPHENO:0081786", - "UBERON:0003457", - "GO:0050877", - "HP:0011927", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "HP:0009381", - "UBERON:0000466", - "UPHENO:0076805", - "UPHENO:0088168", - "UBERON:0002470", - "UBERON:0007827", - "OBI:0100026", - "UPHENO:0001072", - "UPHENO:0087907", - "UBERON:0034929", - "GO:0008150", - "UBERON:0006983", - "UBERON:0002268", - "GO:0031326", - "UPHENO:0065599", - "UPHENO:0084727", - "UPHENO:0087430", - "UPHENO:0084715", - "CL:0000300", - "HP:0012130", - "UPHENO:0041629", - "UBERON:0011143", - "UBERON:0005177", - "UBERON:0001008", - "UPHENO:0087427", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0041226", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0005173", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "UBERON:8450002", - "HP:0000085", - "UBERON:0001463", - "UBERON:0008962", - "UBERON:0008907", - "HP:0012210", - "GO:0006996", - "HP:0000079", - "GO:0048523", - "GO:0009889", - "HP:0003220", - "UPHENO:0050113", - ], - "has_phenotype_closure_label": [ - "Neoplasm of the skin", - "Pelvic kidney", - "Ectopic kidney", - "Abnormal reproductive system morphology", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "absent germ cell", - "external male genitalia", - "testis", - "Azoospermia", - "male gamete generation", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male germ cell", - "male gamete", - "Abnormal testis morphology", - "semen", - "reproduction", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormal external genitalia", - "reproductive process", - "abnormally localised anatomical entity in independent continuant", - "abnormal internal genitalia", - "external genitalia", - "internal genitalia", - "gonad", - "haploid cell", - "reproductive system", - "organism substance", - "abnormal gamete", - "sperm", - "abnormal location of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "absent gamete", - "germ cell", - "gamete", - "reproductive structure", - "decreased qualitatively developmental process", - "abnormal reproductive system morphology", - "decreased spermatogenesis", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "spermatogenesis", - "decreased developmental process", - "abnormal testis morphology", - "Cryptorchidism", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormality of reproductive system physiology", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", - "ear", - "abnormal developmental process", - "sensory perception", - "system process", - "multicellular organismal process", - "abnormality of anatomical entity physiology", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "abnormal size of multicellular organism", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "abnormal reproductive process", - "regulation of macromolecule metabolic process", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "organism", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Decreased head circumference", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "visual system", - "Abnormal skull morphology", - "Abnormal cellular immune system morphology", - "Abnormal cerebral morphology", - "arm bone", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "forebrain", - "regional part of nervous system", - "Narrow palpebral fissure", - "renal system", - "multi-tissue structure", - "main body axis", - "abnormal kidney morphology", - "craniocervical region", - "root", - "appendage", - "abnormal nervous system", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "pigmentation", - "abnormal integument", - "Abnormality of skin pigmentation", - "skeleton of limb", - "aplasia or hypoplasia of skull", - "neural crest-derived structure", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "increased qualitatively biological_process in independent continuant", - "absent sperm", - "limb segment", - "biological_process", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", - "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "gamete generation", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal immune system morphology", - "Abnormal myeloid cell morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", - "agenesis of anatomical entity", - "telencephalon", - "digit", - "Hyperpigmentation of the skin", - "skeleton of manus", - "obsolete multicellular organism reproduction", - "cellular organisms", - "abnormal manus morphology", - "Absent thumb", - "abnormal autopod region morphology", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "Neoplasm", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "abnormal size of anatomical entity", - "abnormal phenotype by ontology source", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "abnormal cellular metabolic process", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "paired limb/fin", - "Hypoplasia of the radius", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", - "abnormal multicellular organismal reproductive process", - "manual digit", - "U-shaped anatomical entity", - "abnormal central nervous system morphology", - "abnormal reproductive system", - "abnormal kidney", - "Aplasia/Hypoplasia of the radius", - "subdivision of skeleton", - "endochondral bone", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "quality", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "anatomical system", - "lateral structure", - "abnormal limb bone morphology", - "entity", - "subdivision of skeletal system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "absent manual digit", - "decreased size of the mandible", - "organ system subdivision", - "decreased length of palpebral fissure", - "erythrocyte", - "abnormal blood cell", - "abnormal radius bone morphology", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "body proper", - "regulation of gene expression", - "pectoral appendage", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", - "skeletal system", - "motile cell", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal face", - "zeugopod", - "skeletal element", - "abnormal anatomical entity morphology in the pectoral complex", - "upper limb segment", - "appendicular skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "organism subdivision", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "radius bone hypoplasia", - "subdivision of organism along appendicular axis", - "manual digit plus metapodial segment", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "dermatocranium", - "pectoral complex", - "trunk region element", - "radius endochondral element", - "material anatomical entity", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "Squamous cell carcinoma", - "mesoderm-derived structure", - "abnormality of ear physiology", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "hematopoietic system", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "endochondral element", - "multi-limb segment region", - "appendicular skeletal system", - "system", - "bone marrow cell", - "Aplasia/hypoplasia involving bones of the hand", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "decreased qualitatively biological_process", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal craniocervical region morphology", - "continuant", - "absent sperm in the semen", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "Abnormality of the ocular adnexa", - "abnormally localised anatomical entity", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "skeleton", - "increased size of the anatomical entity", - "limb", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "abnormal nervous system morphology", - "abnormal cell morphology", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", - "Abnormality of the genitourinary system", - "blood cell", - "head bone", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "forelimb zeugopod skeleton", - "facial skeleton", - "bone of appendage girdle complex", - "aplastic manual digit 1", - "dentary", - "segment of autopod", - "organic cyclic compound metabolic process", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "arm", - "abnormal nose morphology", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", - "postcranial axial skeletal system", - "abnormal digit morphology", - "skeleton of lower jaw", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "eye", - "compound organ", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal mouth", - "forelimb zeugopod", - "cranial skeletal system", - "Abnormality of head or neck", - "abnormal head morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "postcranial axial skeleton", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "tissue", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb long bone", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "forelimb", - "Abnormal forebrain morphology", - "abnormal limb morphology", - "anatomical conduit", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "sensory system", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "axial skeletal system", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Abnormal localization of kidney", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "kidney", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "delayed growth", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "Abnormality of the face", - "multi organ part structure", - "hemolymphoid system", - "organ part", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormality of the orbital region", - "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "orbital region", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal bone of pectoral complex morphology", - "orifice", - "ocular adnexa", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal immune system", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "sensory perception of mechanical stimulus", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", - "obsolete cell", - "decreased length of long bone", - "digestive system", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal hematopoietic system morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "regulation of macromolecule biosynthetic process", - "multicellular organism", - "Thrombocytopenia", - "Abnormality of the immune system", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cavitated compound organ", - "Abnormal leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "abnormal hematopoietic system", - "digit 1", - "abnormal platelet morphology", - "aplasia or hypoplasia of mandible", - "nucleobase-containing compound metabolic process", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "subdivision of tube", - "Aplasia/Hypoplasia involving bones of the skull", - "mouth", - "abnormal mandible morphology", - "anatomical entity hypoplasia in face", - "abnormal jaw skeleton morphology", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", - "abnormal male reproductive system", - "abnormal mouth morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "Abnormality of body height", - "tube", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal digit", - "lower jaw region", - "abnormal primary metabolic process", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the genital system", - "intramembranous bone", - "structure with developmental contribution from neural crest", - "bone of craniocervical region", - "abnormal head bone morphology", - "abnormal manus", - "bone element hypoplasia in face", - "Short finger", - "anterior region of body", - "decreased length of manual digit 1", - "Short digit", - "Abnormal nasal tip morphology", - "Abnormal external nose morphology", - "anatomical point", - "olfactory organ", - "Abnormality of the nose", - "entire sense organ system", - "abnormal external nose morphology", - "immaterial anatomical entity", - "nose", - "aplastic anatomical entity", - "Bulbous nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "abnormal erythrocyte morphology", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "3-D shape anatomical entity", - "abnormal renal system", - "concave 3-D shape anatomical entity", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "excretory system", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "upper urinary tract", - "Abnormality of the kidney", - "Horseshoe kidney", - "abnormal renal system morphology", - "developmental process", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "shape kidney", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "abnormal pigmentation", - "Abnormality of the head", - "organic substance metabolic process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "cellular component organization", - ], - "has_phenotype_count": 20, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0014986", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", - "full_name": None, - "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.", - "xref": ["DOID:0111090", "GARD:16214", "OMIM:617244", "UMLS:C4284093"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCR", - "Fanconi Anemia, complementation group R", - "Fanconi Anemia, complementation group type R", - "Fanconi anaemia caused by mutation in RAD51", - "Fanconi anaemia complementation group type R", - "Fanconi anemia caused by mutation in RAD51", - "Fanconi anemia complementation group type R", - "Fanconi anemia, complementation GROUP R", - "RAD51 Fanconi anaemia", - "RAD51 Fanconi anemia", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001249", - "HP:0009777", - "HP:0000238", - "HP:0006433", - "HP:0002650", - "HP:0002023", - "HP:0000252", - "HP:0001510", - "HP:0006349", - "HP:0000125", - "HP:0005528", - "HP:0000568", - "HP:0007099", - "HP:0001903", - "HP:0003221", - "HP:0031936", - "HP:0002144", - "HP:0003764", - ], - "has_phenotype_label": [ - "Intellectual disability", - "Absent thumb", - "Hydrocephalus", - "Radial dysplasia", - "Scoliosis", - "Anal atresia", - "Microcephaly", - "Growth delay", - "Agenesis of permanent teeth", - "Pelvic kidney", - "Bone marrow hypocellularity", - "Microphthalmia", - "Chiari type I malformation", - "Anemia", - "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Nevus", - ], - "has_phenotype_closure": [ - "HP:0011121", - "UPHENO:0002635", - "UBERON:0002416", - "HP:0001574", - "HP:0002144", - "UBERON:0002240", - "UBERON:0005174", - "HP:0012758", - "HP:0001270", - "HP:0002194", - "GO:0005623", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "GO:0010468", - "GO:0031327", - "GO:0006325", - "UPHENO:0049748", - "GO:0031049", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "GO:0008152", - "GO:0071704", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0043170", - "UPHENO:0050113", - "HP:0003220", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "HP:0001939", - "GO:0006996", - "GO:0043933", - "UPHENO:0050845", - "UPHENO:0088162", - "CL:0000764", - "CL:0000232", - "CL:0000081", - "HP:0012130", - "HP:0011282", - "UPHENO:0072814", - "UPHENO:0071309", - "HP:0001317", - "UPHENO:0020013", - "UBERON:0004732", - "UPHENO:0081601", - "HP:0007099", - "UBERON:0000063", - "HP:0002438", - "HP:0000568", - "UPHENO:0075219", - "UBERON:0004088", - "UPHENO:0021474", - "UPHENO:0069523", - "UPHENO:0068971", - "HP:0000478", - "HP:0000315", - "HP:0012372", - "HP:0008056", - "UPHENO:0012541", - "HP:0005528", - "HP:0001871", - "UBERON:0034923", - "HP:0025354", - "CL:0000000", - "HP:0002715", - "UPHENO:0087339", - "UPHENO:0002948", - "UPHENO:0087355", - "UPHENO:0087123", - "HP:0020047", - "CL:0002092", - "HP:0012145", - "UPHENO:0087858", - "HP:0012210", - "UBERON:0003103", - "UPHENO:0081755", - "UBERON:0002371", - "UPHENO:0049367", - "UBERON:8450002", - "GO:0031052", - "UBERON:0000489", - "UBERON:0005173", - "UBERON:0002417", - "UBERON:0004122", - "HP:0010935", - "UBERON:0000916", - "HP:0100542", - "UBERON:0009569", - "UBERON:0001008", - "UBERON:0005177", - "UPHENO:0085118", - "UBERON:0002113", - "UPHENO:0053580", - "UBERON:0011143", - "UPHENO:0075902", - "CL:0000763", - "HP:0031816", - "HP:0000164", - "UBERON:0007774", - "GO:0034641", - "UPHENO:0011564", - "UBERON:0000167", - "UBERON:0003913", - "UPHENO:0076800", - "UPHENO:0002910", - "UPHENO:0003020", - "UBERON:0002553", - "CL:0000329", - "HP:0000271", - "UBERON:0004921", - "HP:0000086", - "UBERON:0003672", - "UBERON:0001091", - "HP:0011044", - "HP:0000951", - "UPHENO:0002828", - "UBERON:0000466", - "GO:0065007", - "UPHENO:0081526", - "UPHENO:0049874", - "UBERON:0013522", - "UPHENO:0000543", - "UBERON:0001456", - "UPHENO:0000541", - "HP:0001510", - "HP:0001507", - "HP:0002308", - "UPHENO:0081566", - "HP:0000240", - "UPHENO:0075220", - "NCBITaxon:6072", - "UPHENO:0002764", - "HP:0000252", - "UBERON:0001137", - "UBERON:0000033", - "UPHENO:0087472", - "UBERON:0010323", - "UPHENO:0087907", - "HP:0000119", - "HP:0000152", - "UPHENO:0080200", - "UBERON:0001890", - "GO:0006725", - "UBERON:0001893", - "UBERON:0000970", - "NCBITaxon:33154", - "CL:0000988", - "HP:0002060", - "GO:0050789", - "UBERON:0013701", - "UBERON:0002616", - "NCBITaxon:1", - "UPHENO:0075195", - "UBERON:0001032", - "UBERON:0000481", - "UBERON:0007811", - "UPHENO:0076739", - "HP:0007364", - "HP:0000234", - "UBERON:0004375", - "UPHENO:0020584", - "UBERON:0002091", - "UBERON:0013702", - "HP:0002813", - "UPHENO:0084763", - "UPHENO:0076779", - "UPHENO:0088185", - "UBERON:0007779", - "HP:0000924", - "UBERON:5002389", - "BFO:0000003", - "GO:0010556", - "UBERON:0000165", - "PR:000050567", - "UBERON:0002204", - "UPHENO:0020041", - "UBERON:0010538", - "UBERON:0005358", - "UBERON:0003606", - "UBERON:0002529", - "UBERON:0002199", - "UBERON:0002193", - "UPHENO:0018390", - "UPHENO:0008668", - "UBERON:0010712", - "GO:1901360", - "BFO:0000141", - "UPHENO:0002830", - "HP:0100547", - "UPHENO:0002880", - "HP:0040070", - "UBERON:0002471", - "HP:0000077", - "UPHENO:0002905", - "UPHENO:0084448", - "UBERON:0004710", - "UBERON:0011582", - "OBI:0100026", - "UPHENO:0087518", - "UPHENO:0008523", - "HP:0000125", - "HP:0002817", - "UPHENO:0086172", - "HP:0000707", - "HP:0009601", - "UPHENO:0084928", - "UBERON:0003607", - "UBERON:0006058", - "UBERON:0002405", - "UBERON:0011584", - "UBERON:0000026", - "UPHENO:0049587", - "UPHENO:0002844", - "UBERON:0019231", - "UPHENO:0003811", - "UPHENO:0081598", - "HP:0011297", - "UPHENO:0049700", - "UPHENO:0011589", - "HP:0005927", - "HP:0009777", - "HP:0001155", - "UBERON:0011137", - "NCBITaxon:131567", - "UPHENO:0076723", - "UPHENO:0085144", - "UBERON:0004288", - "UBERON:0015203", - "UPHENO:0002642", - "UPHENO:0080325", - "HP:0011355", - "UBERON:0001359", - "UPHENO:0076727", - "HP:0000153", - "UPHENO:0063844", - "HP:0006265", - "UPHENO:0087089", - "GO:0044237", - "HP:0002977", - "UBERON:0010363", - "HP:0012638", - "UBERON:0011249", - "UPHENO:0076957", - "UBERON:0011216", - "HP:0009804", - "HP:0005922", - "HP:0002143", - "UBERON:0010230", - "GO:0050877", - "HP:0034915", - "HP:0045060", - "NCBITaxon:33208", - "UPHENO:0076692", - "UPHENO:0002536", - "UPHENO:0002832", - "UPHENO:0002803", - "UPHENO:0086633", - "UBERON:0011676", - "HP:0011446", - "HP:0000118", - "HP:0040195", - "UPHENO:0001005", - "UPHENO:0074228", - "GO:0006807", - "UPHENO:0006910", - "UBERON:0007272", - "UPHENO:0002964", - "UBERON:0002101", - "UBERON:0010707", - "HP:0001167", - "HP:0040064", - "UBERON:0004120", - "HP:0010674", - "UPHENO:0002839", - "UPHENO:0002708", - "HP:0011017", - "UBERON:0012141", - "GO:0044238", - "UPHENO:0088170", - "UPHENO:0001001", - "UBERON:0000464", - "UPHENO:0086589", - "UPHENO:0076791", - "UBERON:0005881", - "HP:0003330", - "UBERON:0005451", - "UBERON:0004111", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0087427", - "UPHENO:0002332", - "UPHENO:0084761", - "UPHENO:0047419", - "UBERON:0000019", - "UBERON:0010708", - "GO:0050890", - "BFO:0000001", - "UPHENO:0086700", - "HP:0100543", - "UPHENO:0081435", - "UBERON:5006048", - "PATO:0000001", - "UPHENO:0026028", - "BFO:0000015", - "UBERON:0002097", - "HP:0006349", - "HP:0012759", - "UBERON:0002398", - "UBERON:0000468", - "HP:0001877", - "UBERON:0001463", - "UPHENO:0085195", - "UBERON:0012475", - "UBERON:0002390", - "UBERON:0010000", - "HP:0011283", - "UPHENO:0075997", - "UPHENO:0020888", - "GO:0008150", - "UBERON:0015212", - "GO:0046483", - "UPHENO:0084766", - "UPHENO:0049873", - "HP:0005561", - "UBERON:0000153", - "UPHENO:0002896", - "BFO:0000040", - "GO:0071840", - "UPHENO:0026181", - "UBERON:0001440", - "GO:0003008", - "HP:0002921", - "UBERON:0010314", - "UBERON:0001062", - "GO:0006259", - "UPHENO:0076720", - "UBERON:0002100", - "UBERON:0001474", - "UPHENO:0082875", - "UBERON:0001444", - "HP:0011842", - "UPHENO:0075696", - "UBERON:0002470", - "UPHENO:0076724", - "UBERON:0000061", - "UBERON:0001016", - "UPHENO:0076740", - "UBERON:0001017", - "UPHENO:0076703", - "GO:0090304", - "UPHENO:0015280", - "UBERON:0000479", - "UPHENO:0035025", - "UBERON:0001007", - "HP:0040012", - "UPHENO:0071344", - "UBERON:0004765", - "UBERON:0000467", - "UPHENO:0081466", - "UBERON:0006314", - "UPHENO:0053588", - "UPHENO:0063722", - "UPHENO:0063599", - "BFO:0000004", - "UBERON:0002544", - "UPHENO:0004523", - "UPHENO:0056237", - "UBERON:0010758", - "UPHENO:0004459", - "UBERON:0002428", - "HP:0000001", - "UBERON:0001442", - "HP:0100887", - "UBERON:0012140", - "CL:0001035", - "UBERON:0005172", - "HP:0002973", - "UPHENO:0080209", - "UBERON:0004923", - "UBERON:0012354", - "UBERON:0000020", - "HP:0040072", - "UPHENO:0080099", - "UBERON:0003129", - "UBERON:0015061", - "HP:0001249", - "UPHENO:0002833", - "UBERON:0002037", - "HP:0001172", - "HP:0002650", - "UPHENO:0079876", - "UPHENO:0086932", - "UBERON:5002544", - "UBERON:0000465", - "UBERON:0001130", - "UPHENO:0001003", - "UBERON:0006717", - "UBERON:0002495", - "UBERON:0002102", - "UPHENO:0076799", - "UPHENO:0080126", - "UPHENO:0087006", - "HP:0000163", - "UPHENO:0002433", - "UBERON:0003947", - "NCBITaxon:2759", - "UBERON:0002389", - "UBERON:0001895", - "UPHENO:0002826", - "UBERON:0010740", - "UBERON:0004121", - "GO:0040007", - "UBERON:0001460", - "HP:0003764", - "UBERON:0019221", - "UPHENO:0011498", - "GO:0032501", - "UPHENO:0026506", - "HP:0001903", - "UBERON:0005944", - "UBERON:0034925", - "UBERON:0004708", - "HP:0009815", - "UBERON:0000075", - "UBERON:0001434", - "HP:0006496", - "UPHENO:0014240", - "UBERON:0000060", - "HP:0009115", - "GO:0010605", - "GO:0009892", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0087501", - "HP:0009380", - "UBERON:0000475", - "UBERON:0000062", - "UPHENO:0085068", - "UPHENO:0009382", - "UBERON:5001463", - "HP:0000238", - "UPHENO:0076803", - "GO:0010558", - "UBERON:0008785", - "UBERON:0012139", - "UPHENO:0056212", - "UPHENO:0078606", - "HP:0002664", - "UBERON:0000064", - "UPHENO:0035147", - "UBERON:0005282", - "HP:0000929", - "UBERON:0000073", - "RO:0002577", - "UBERON:0000955", - "UBERON:0005281", - "UPHENO:0088047", - "UPHENO:0076702", - "GO:0016043", - "HP:0002011", - "UBERON:0000047", - "HP:0025461", - "UPHENO:0076805", - "UBERON:0004086", - "UPHENO:0047299", - "GO:0031323", - "HP:0000079", - "UBERON:0002513", - "UBERON:0011138", - "HP:0040068", - "UPHENO:0026183", - "UPHENO:0056072", - "UBERON:0002028", - "BFO:0000002", - "HP:0012639", - "HP:0031938", - "UBERON:0000463", - "HP:0025031", - "UBERON:0000161", - "UBERON:0002104", - "HP:0002118", - "UBERON:0004733", - "UPHENO:0056333", - "HP:0012443", - "UBERON:0002386", - "UBERON:0015021", - "GO:0009987", - "UBERON:0010703", - "UPHENO:0079872", - "UPHENO:0002751", - "BFO:0000020", - "UBERON:0001555", - "UPHENO:0080114", - "UBERON:0015001", - "UBERON:0004456", - "UBERON:0001423", - "UPHENO:0087924", - "UPHENO:0001002", - "UBERON:0003460", - "UPHENO:0086956", - "UBERON:0006048", - "UPHENO:0087510", - "UBERON:0004381", - "UBERON:0008962", - "HP:0004378", - "HP:0031936", - "GO:0048519", - "HP:0011314", - "UPHENO:0086644", - "UPHENO:0076718", - "UPHENO:0081451", - "UPHENO:0087349", - "UBERON:0010741", - "UBERON:0003466", - "HP:0000925", - "HP:0009121", - "UPHENO:0022529", - "GO:0031326", - "UBERON:0002090", - "UPHENO:0002813", - "HP:0006433", - "UBERON:0000025", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "HP:0011793", - "UBERON:0001245", - "HP:0025033", - "HP:0006483", - "UBERON:0010912", - "UPHENO:0063565", - ], - "has_phenotype_closure_label": [ - "Abnormality of the skin", - "abnormal skin of body morphology", - "Nevus", - "skin of body", - "integument", - "integumental system", - "spinal cord", - "Abnormal spinal cord morphology", - "Abnormal conus terminalis morphology", - "dorsum", - "programmed DNA elimination", - "abnormal metabolic process", - "negative regulation of biosynthetic process", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal organelle organization", - "metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal cellular process", - "abnormal chromatin organization", - "Chromosome breakage", - "regulation of cellular process", - "negative regulation of biological process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "abnormal primary metabolic process", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "Chromosomal breakage induced by crosslinking agents", - "abnormal hematopoietic cell morphology", - "abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormal spinal cord morphology", - "Abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "Abnormal metencephalon morphology", - "segmental subdivision of nervous system", - "Cerebellar malformation", - "hindbrain", - "abnormally formed anatomical entity", - "cellular metabolic process", - "simple eye", - "abnormal integument", - "eyeball of camera-type eye", - "abnormal face morphology", - "Abnormality of skin morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "orbital region", - "decreased size of the anatomical entity in the independent continuant", - "Motor delay", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", - "Abnormality of the orbital region", - "abnormal hematopoietic system", - "abnormal cell", - "immune system", - "Abnormality of the immune system", - "non-connected functional system", - "Abnormality of blood and blood-forming tissues", - "hemolymphoid system", - "disconnected anatomical group", - "Abnormal cellular phenotype", - "abnormal skin of body", - "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", - "Anemia", - "camera-type eye", - "abnormal bone marrow cell", - "abnormal immune system", - "abnormal renal system morphology", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abdomen element", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "abnormal genitourinary system", - "abnormal anatomical entity topology in independent continuant", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "abdominal segment of trunk", - "abnormally localised anatomical entity in independent continuant", - "abdomen", - "Ectopic kidney", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "abnormal renal system", - "abnormally localised anatomical entity", - "Abnormality of the upper urinary tract", - "anatomical cavity", - "abnormal erythrocyte morphology", - "Abnormal number of permanent teeth", - "myeloid cell", - "aplastic secondary dentition", - "secondary dentition", - "calcareous tooth", - "dentition", - "abnormal mouth morphology", - "abnormally decreased number of calcareous tooth", - "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Abnormal oral morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the dentition", - "cellular component organization", - "abnormal number of anatomical enitites of type calcareous tooth", - "Agenesis of permanent teeth", - "abnormally decreased number of anatomical entity", - "subdivision of tube", - "Abnormality of the face", - "Abnormal number of teeth", - "subdivision of digestive tract", - "delayed biological_process", - "delayed growth", - "Growth delay", - "abnormally decreased number of anatomical entity in the independent continuant", - "growth", - "abnormal biological_process", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", - "Abnormal localization of kidney", - "face", - "Growth abnormality", - "abnormal skull morphology", - "abnormal size of anatomical entity", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormality of the mouth", - "abnormal size of skull", - "regional part of brain", - "abnormal telencephalon morphology", - "Eumetazoa", - "Eukaryota", - "dorsal region element", - "Abnormality of skull size", - "abnormal head", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "tooth-like structure", - "Abnormality of head or neck", - "cranial skeletal system", - "Abnormality of the genitourinary system", - "forebrain", - "Decreased head circumference", - "visual system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "abnormal craniocervical region morphology", - "kidney", - "regional part of nervous system", - "multi-tissue structure", - "abnormal kidney morphology", - "main body axis", - "subdivision of organism along main body axis", - "abnormal forebrain morphology", - "macromolecule metabolic process", - "appendage girdle complex", - "abnormal cerebellum morphology", - "skeleton", - "abnormal manual digit morphology in the independent continuant", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "absent anatomical entity", - "brain ventricle", - "cell", - "limb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "absent anatomical entity in the forelimb", - "abnormal arm", - "Tethered cord", - "excretory system", - "Abnormal curvature of the vertebral column", - "cellular process", - "Abnormal digit morphology", - "postcranial axial skeleton", - "Abnormal finger morphology", - "appendicular skeletal system", - "eye", - "Opisthokonta", - "paired limb/fin segment", - "endochondral element", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "Abnormal axial skeleton morphology", - "Aplasia/hypoplasia of the extremities", - "agenesis of anatomical entity", - "digit", - "bone element", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "anatomical space", - "paired limb/fin", - "organ subunit", - "Cognitive impairment", - "digestive system", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "aplasia or hypoplasia of anatomical entity", - "abnormal digit morphology", - "limb segment", - "skeleton of manus", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "multicellular organism", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "organism subdivision", - "lateral structure", - "digestive tract", - "Abnormal cerebellum morphology", - "digit 1 plus metapodial segment", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "Neurodevelopmental delay", - "pectoral appendage", - "body proper", - "head", - "Abnormality of limb bone", - "Abnormality of the musculoskeletal system", - "cellular organisms", - "abnormal digit", - "bodily fluid", - "multi-limb segment region", - "abnormal limb bone morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "segmental subdivision of hindbrain", - "brain ventricle/choroid plexus", - "anatomical system", - "radius endochondral element", - "regulation of cellular biosynthetic process", - "biological regulation", - "Abnormality of globe size", - "Intellectual disability", - "abnormal digestive system morphology", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormality of the hand", - "nucleobase-containing compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", - "Abnormal cell morphology", - "phenotype", - "abnormal growth", - "independent continuant", - "aplastic manual digit 1", - "organic cyclic compound metabolic process", - "segment of autopod", - "organ", - "occurrent", - "Abnormality of mental function", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormal cellular physiology", - "organic substance metabolic process", - "Pelvic kidney", - "abnormality of nervous system physiology", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "manual digit 1 plus metapodial segment", - "abnormal manus morphology", - "pectoral appendage skeleton", - "quality", - "Localized skin lesion", - "immaterial entity", - "Abnormal hand morphology", - "Abnormality of the eye", - "abnormal upper urinary tract", - "mouth", - "musculoskeletal system", - "skeleton of pectoral complex", - "abnormal face", - "autopodial extension", - "negative regulation of gene expression", - "Phenotypic abnormality", - "subdivision of skeletal system", - "entity", - "bone of pectoral complex", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "Chiari type I malformation", - "Metazoa", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "protein-containing material entity", - "abnormal skeletal system morphology", - "segment of manus", - "organ part", - "forelimb endochondral element", - "multicellular anatomical structure", - "Scoliosis", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "organism", - "autopod region", - "digit 1", - "aplasia or hypoplasia of manual digit", - "Microphthalmia", - "abnormal skeletal system", - "anatomical structure", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "Chiari malformation", - "Abnormality of the head", - "anatomical conduit", - "biological_process", - "process", - "Delayed ability to walk", - "material entity", - "nervous system process", - "abnormal number of anatomical enitites of type secondary dentition", - "system process", - "anatomical collection", - "All", - "Abnormal cerebral ventricle morphology", - "Abnormal upper limb bone morphology", - "Abnormal hindbrain morphology", - "renal system", - "nervous system", - "abnormal nervous system", - "manual digit 1 or 5", - "Neoplasm", - "upper urinary tract", - "Anal atresia", - "decreased size of the anatomical entity", - "ventricular system of brain", - "cognition", - "tube", - "abnormal autopod region morphology", - "bone of free limb or fin", - "Absent thumb", - "subdivision of trunk", - "absent manual digit", - "abnormal phenotype by ontology source", - "trunk region element", - "pectoral complex", - "abnormal appendicular skeleton morphology", - "skeleton of limb", - "material anatomical entity", - "digit plus metapodial segment", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "abnormal dentition", - "Abnormal nervous system physiology", - "abnormal forelimb morphology", - "Bone marrow hypocellularity", - "zeugopod", - "skeletal element", - "entire sense organ system", - "continuant", - "abnormal manual digit 1 morphology", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "aplastic anatomical entity", - "anterior region of body", - "appendicular skeleton", - "upper limb segment", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "skeletal system", - "aplasia or hypoplasia of manual digit 1", - "bone marrow cell", - "system", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "Abnormal eye morphology", - "manual digit", - "Abnormal morphology of the radius", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Delayed gross motor development", - "subdivision of skeleton", - "endochondral bone", - "abnormally increased number of anatomical entity in the independent continuant", - "arm", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "mesoderm-derived structure", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebrospinal fluid morphology", - "limb endochondral element", - "autopodial skeleton", - "Abnormal skeletal morphology", - "forelimb", - "forelimb zeugopod", - "genitourinary system", - "forelimb skeleton", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "bone marrow", - "acropodium region", - "Abnormality of digestive system morphology", - "abnormal limb", - "manus", - "cerebrospinal fluid", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Finger aplasia", - "Abnormal appendicular skeleton morphology", - "cerebellum", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal closing of the anatomical entity", - "bone of appendage girdle complex", - "anatomical wall", - "organ component layer", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Tooth agenesis", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "arm bone", - "Hydrocephalus", - "malformed anatomical entity", - "Morphological central nervous system abnormality", - "cavitated compound organ", - "abnormal brain morphology", - "organism substance", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "abnormally increased number of anatomical entity", - "Abnormality of the urinary system", - "transudate", - "forelimb bone", - "ventricle of nervous system", - "skull", - "abnormal cerebrospinal fluid morphology", - "abnormal brain ventricle morphology", - "central nervous system", - "ventricular system of central nervous system", - "abnormal anus", - "abnormally formed anatomical entity in independent continuant", - "oral cavity", - "dysgenesis of the radius bone", - "subdivision of head", - "Abnormality of brain morphology", - "forelimb zeugopod bone", - "metencephalon", - "abnormal digestive system", - "abnormal DNA metabolic process", - "blood cell", - "abnormal manual digit morphology in the manus", - "radius bone", - "forelimb long bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "abnormal radius bone morphology", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "long bone", - "axial skeletal system", - "obsolete cell", - "compound organ", - "dysgenesis of the anatomical entity", - "zeugopodial skeleton", - "limb long bone", - "Radial dysplasia", - "appendage", - "root", - "Abnormal long bone morphology", - "Abnormal bone structure", - "abnormal vertebral column", - "abnormal postcranial axial skeleton morphology", - "abnormal oral cavity morphology", - "telencephalon", - "vertebral column", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "trunk", - "Abnormality of the vertebral column", - "protein-DNA complex organization", - "Abnormal anus morphology", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "erythrocyte", - "organ system subdivision", - "Abnormality of the anus", - "DNA metabolic process", - "orifice", - "anus", - "immaterial anatomical entity", - "anus atresia", - "aplasia or hypoplasia of telencephalon", - "abnormal long bone morphology", - "craniocervical region", - ], - "has_phenotype_count": 18, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0014987", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group U", - "full_name": None, - "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", - "xref": ["DOID:0111085", "GARD:16215", "OMIM:617247", "UMLS:C4310651"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCU", - "Fanconi Anemia, complementation group U", - "Fanconi Anemia, complementation group type U", - "Fanconi anaemia caused by mutation in XRCC2", - "Fanconi anaemia complementation group type U", - "Fanconi anemia caused by mutation in XRCC2", - "Fanconi anemia complementation group type U", - "Fanconi anemia, complementation GROUP U", - "XRCC2 Fanconi anaemia", - "XRCC2 Fanconi anemia", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0040012", - "HP:0000086", - "HP:0002984", - "HP:0009777", - "HP:0000252", - "HP:0001510", - "HP:0003974", - "HP:0001643", - "HP:0012799", - "HP:0010035", - "HP:0011835", - ], - "has_phenotype_label": [ - "Chromosome breakage", - "Ectopic kidney", - "Hypoplasia of the radius", - "Absent thumb", - "Microcephaly", - "Growth delay", - "Absent radius", - "Patent ductus arteriosus", - "Unilateral facial palsy", - "Aplasia of the 1st metacarpal", - "Absent scaphoid", - ], - "has_phenotype_closure": [ - "UBERON:0001480", - "UBERON:0006716", - "HP:0003019", - "HP:0004243", - "HP:0004231", - "UPHENO:0026144", - "HP:0001191", - "UPHENO:0009338", - "HP:0001367", - "HP:0009810", - "UPHENO:0002973", - "UPHENO:0016527", - "UBERON:0014395", - "UPHENO:0081524", - "UBERON:0015078", - "HP:0011835", - "UBERON:0017750", - "UBERON:0003656", - "UBERON:0015049", - "UBERON:0000982", - "HP:0006502", - "UPHENO:0076767", - "UBERON:0004770", - "UBERON:0034921", - "UPHENO:0002696", - "UBERON:0001427", - "UBERON:0009880", - "UPHENO:0080173", - "UBERON:0004302", - "UBERON:0002234", - "UBERON:0009877", - "HP:0009851", - "UPHENO:0009400", - "HP:0010048", - "UPHENO:0086700", - "UBERON:0001015", - "UBERON:0005451", - "UBERON:0001442", - "HP:0000001", - "UPHENO:0081466", - "UBERON:0000467", - "UBERON:0003466", - "UBERON:0008785", - "GO:0010558", - "UBERON:0004708", - "UBERON:0004572", - "HP:0006503", - 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+ "UPHENO:0002559", + "UPHENO:0076702", + "UBERON:0000033", + "UPHENO:0002548", + "UPHENO:0025845", + "UPHENO:0075195", + "HP:0009121", + "UPHENO:0075804", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0086589", + "UPHENO:0025187", + "UPHENO:0075220", + "UBERON:0000047", + "UPHENO:0002385", + "UPHENO:0066945", + "UPHENO:0080126", + "UBERON:0015204", + "HP:0008373", + "UPHENO:0066903", + "UPHENO:0003055", + "UPHENO:0066972", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0002381", + "UPHENO:0081511", "UPHENO:0076799", "HP:0000119", - "UPHENO:0081511", - "UBERON:0003498", - "UBERON:0006876", - "UBERON:0000948", - "UPHENO:0015324", - "UBERON:0012141", - "UBERON:0003513", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "UBERON:0011695", - "UBERON:0000915", - "UBERON:0005181", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0015228", - "UBERON:0005177", - "UPHENO:0087334", - "UBERON:0011779", - "UBERON:0004145", - "UPHENO:0076729", - "UPHENO:0081435", - "UPHENO:0087186", - "UPHENO:0080362", - "UBERON:0012140", - "UBERON:0004571", - "HP:0001643", - "NCBITaxon:6072", - "UPHENO:0076776", - "UBERON:0001435", - "UBERON:0002386", - "UBERON:0005440", + "UPHENO:0011566", + "UPHENO:0011770", + "UPHENO:0025587", + "UPHENO:0002308", + "GO:0043170", + "UPHENO:0025544", + "UPHENO:0026074", + "UPHENO:0011559", + "UPHENO:0002685", + "UPHENO:0008640", + "UPHENO:0066905", + "MPATH:120", + "UPHENO:0049620", + "UBERON:0000990", + "UPHENO:0011739", + "UPHENO:0003020", + "UPHENO:0046750", + "UBERON:0005944", + "UBERON:0000991", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0002386", + "UBERON:0000465", + "UPHENO:0002206", + "UPHENO:0063787", + "HP:0000818", + "UPHENO:0008825", + "HP:0004325", + "UPHENO:0026504", + "UPHENO:0026600", + "UBERON:0011143", + "UPHENO:0026507", + "NCBITaxon:131567", + "HP:0001017", + "UPHENO:0081423", + "UPHENO:0009011", + "HP:0011355", + "UPHENO:0011492", + "UPHENO:0082875", + "HP:0000104", + "UBERON:0010363", + "UPHENO:0008816", + "UPHENO:0085302", + "UPHENO:0008593", + "UPHENO:0026980", + "UPHENO:0025661", + "UPHENO:0009010", + "UPHENO:0025631", + "UPHENO:0008827", + "UBERON:0003133", + "UBERON:5006048", + "UPHENO:0026308", + "BFO:0000001", + "UPHENO:0002635", + "UBERON:0004710", + "UPHENO:0002782", + "UPHENO:0088162", + "UPHENO:0054315", + "UBERON:0002416", + "UBERON:0002102", + "UPHENO:0003811", + "UPHENO:0081581", + "RO:0002577", + "HP:0000951", + "UBERON:0001474", + "CL:0000329", + "CL:0000764", + "HP:0001574", + "HP:0011121", + "UPHENO:0025497", + "UBERON:0001690", "UBERON:0015410", - "UBERON:0018674", - "UBERON:0001009", - "UBERON:0001637", - "UPHENO:0015280", - "GO:0016043", - "UPHENO:0075902", - "UPHENO:0080168", + "UPHENO:0002736", + "UPHENO:0086173", + "HP:0012145", + "UPHENO:0053647", + "UPHENO:0066902", + "UPHENO:0026098", + "HP:0011875", + "CL:0000458", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "HP:0004275", + "UBERON:0010314", + "UPHENO:0053633", + "HP:0001873", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0000473", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "HP:0000811", + "UPHENO:0002682", + "HP:0000035", + "HP:0001876", "HP:0000118", - "UBERON:0003834", - "UPHENO:0086797", - "HP:0033353", - "HP:0010242", - "UBERON:0007100", - "UPHENO:0002908", - "UBERON:0003620", - "UPHENO:0033603", - "UBERON:0013630", - "UBERON:0034923", - "UBERON:0000489", - "UBERON:0010323", - "UBERON:0000055", - "HP:0030962", - "HP:0025015", - "UBERON:0014892", - "UPHENO:0021800", - "UBERON:0001785", - "UBERON:0000383", - "UBERON:0015789", - "HP:0012638", - "UBERON:0004453", - "UPHENO:0081709", - "UBERON:0000122", - "UBERON:0001021", - "HP:0002011", - "UPHENO:0081700", - "UBERON:0015025", - "HP:0001324", - "HP:0003011", - "UPHENO:0003587", - "UPHENO:0079870", - "UBERON:0011216", - "HP:0001291", - "UPHENO:0020041", - "HP:0000271", - "HP:0010827", - "UPHENO:0080556", - "UPHENO:0002910", - "UPHENO:0080555", - "UBERON:0009878", - "UPHENO:0088186", - "UBERON:0005162", - "HP:0045010", - "HP:0012799", - "UBERON:0002376", - "UBERON:0002471", - "UPHENO:0081755", - "UPHENO:0078730", - "UBERON:0000010", - "UPHENO:0002433", - "HP:0410008", - "HP:0010026", - "UPHENO:0080200", - "UBERON:0015042", - "NCBITaxon:33208", - "HP:0011017", - "UBERON:0012151", - "UPHENO:0075655", - "UBERON:5102389", - "UBERON:5106048", - "UPHENO:0076755", - "HP:0012639", - "HP:0005914", - "UPHENO:0025593", - "UPHENO:0081515", - "HP:0002977", - "HP:0010009", - "UBERON:0000075", - "HP:0010035", - "HP:0009802", - "UBERON:0015024", - "UPHENO:0026055", + "UPHENO:0024906", + "UPHENO:0002940", + "HP:0001871", + "UBERON:0000079", + "UPHENO:0053610", + "UBERON:0004176", "HP:0005918", - "UBERON:0002374", - "UBERON:0015043", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0001436", - "GO:0010605", - "UBERON:0005897", - "UPHENO:0080191", - "UBERON:0004111", - "UBERON:0011137", - "UBERON:5102544", - "UBERON:5002389", - "HP:0009659", + "HP:0012243", + "HP:0000032", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "HP:0009823", + "UPHENO:0010763", + "UPHENO:0025955", + "UPHENO:0025545", + "HP:0005927", + "UPHENO:0026486", + "UPHENO:0002738", + "UPHENO:0006894", + "UBERON:0001423", + "UPHENO:0009295", + "HP:0003953", + "UPHENO:0026023", + "UPHENO:0011563", + "UPHENO:0002750", + "UPHENO:0026317", + "UPHENO:0086956", + "UPHENO:0009341", + "UPHENO:0079872", + "UBERON:0004535", + "HP:0009142", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0013702", + "UPHENO:0080187", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "HP:0040070", + "GO:0006725", + "UPHENO:0087501", + "HP:0004377", + "UPHENO:0008709", + "UPHENO:0002594", + "UPHENO:0086019", + "UPHENO:0026312", ], "has_phenotype_closure_label": [ - "radiale", - "carpal region", - "absent carpal bone in the independent continuant", - "aplasia or hypoplasia of carpal bone", - "Abnormality of upper limb joint", - "abnormal radiale", - "Carpal bone aplasia", - "carpus endochondral element", - "absent radiale", - "skeletal joint", - "Abnormality of the wrist", - "abnormal carpal region", - "Abnormal carpal morphology", - "mesopodial skeleton", - "proximal mesopodial bone", - "Abnormality of the scaphoid", - "carpal skeleton", - "Aplasia/Hypoplasia involving the carpal bones", - "multi organ part structure", - "Absent scaphoid", - "proximal carpal bone", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal proximal phalanx of manus morphology", - "abnormal metacarpal bone of digit 1 morphology", - "absent metacarpal bone in the independent continuant", - "skeleton of manus", - "abnormal manus morphology", - "pectoral appendage skeleton", - "aplastic anatomical entity", - "anterior region of body", - "Aplasia/Hypoplasia of the phalanges of the hand", - "cardiovascular system", - "digit plus metapodial segment", - "aplastic metacarpal bone of digit 1", - "organism", - "abnormal carpal bone", - "digit 1", - "Forearm undergrowth", + "3-D shape anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", + "response to stress", + "Abnormality of DNA repair", + "response to stimulus", + "DNA repair", + "DNA damage response phenotype", + "nucleobase-containing compound metabolic process phenotype", + "organic cyclic compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "metabolic process phenotype", + "macromolecule metabolic process phenotype", + "cell cycle phase", + "Abnormality of the cell cycle", + "interphase", + "ear", + "sensory perception", + "decreased sensory perception", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", + "sensory perception of sound", + "decreased qualitatively system process", + "decreased qualitatively sensory perception of sound", + "sensory perception phenotype", + "ear physiology phenotype", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "decreased system process", + "Hearing impairment", + "sense organ physiology phenotype", + "nucleic acid metabolic process phenotype", + "lateral structure physiology phenotype", + "immaterial anatomical entity", + "eye movement", + "Strabismus", + "body part movement", + "multicellular organismal process phenotype", + "anatomical line", + "behavior", + "decreased qualitatively sensory perception of mechanical stimulus", + "eye physiology phenotype", + "concave 3-D shape anatomical entity", + "Abnormality of eye movement", + "Atypical behavior", + "camera-type eye physiology phenotype", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "Short stature", + "size of multicellular organism phenotype", + "delayed biological_process", + "Abnormality of body height", + "Abnormal renal collecting system morphology", + "macromolecule metabolic process", + "Duplicated collecting system", + "Neoplasm", + "Leukemia", + "neoplasm phenotype", + "Localized skin lesion", + "Cafe-au-lait spot", + "Macule", + "biological_process rate phenotype", + "increased qualitatively biological_process", + "Hyperpigmentation of the skin", + "Abnormal heart morphology", + "Abnormal cardiovascular system morphology", + "heart morphology phenotype", + "circulatory organ", + "heart plus pericardium", + "thoracic cavity element", + "vascular system", + "Abnormality of the vasculature", + "Abnormality of the cardiovascular system", + "anatomical cluster phenotype", + "Generalized abnormality of skin", + "Vascular skin abnormality", + "vasculature", + "pigmentation", + "Abnormal finger phalanx morphology", + "Duplication of thumb phalanx", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", + "manual digit bone", + "eye movement phenotype", + "manual digit digitopodial skeleton", + "phalanx endochondral element", + "phalanx", + "skeleton of manual acropodium", + "digitopodium bone", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "pigmentation phenotype", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", + "regulation of biological process", + "programmed DNA elimination by chromosome breakage", + "negative regulation of gene expression", + "cellular response to stimulus", + "Chromosomal breakage induced by crosslinking agents", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "negative regulation of cellular process phenotype", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "regulation of cellular biosynthetic process phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Neurodevelopmental delay", + "multicellular organism mass phenotype", + "material anatomical entity mass phenotype", + "decreased anatomical structure mass", + "decreased material anatomical entity mass", + "Decreased multicellular organism mass", + "camera-type eye", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "entire sense organ system", + "Abnormality of the orbital region", + "camera-type eye morphology phenotype", + "Abnormality of the eye", + "face phenotype", + "orbital region", + "sense organ", + "Microphthalmia", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "size of eyeball of camera-type eye phenotype", + "simple eye", + "sensory system", + "face morphology phenotype", + "Abnormal eye morphology", + "orbital region phenotype", + "number of anatomical enitites of type reticulocyte phenotype", + "decreased number of reticulocyte", + "enucleated reticulocyte", + "reticulocyte", + "enucleated reticulocyte morphology phenotype", + "decreased length of digit 1", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased length of autopodial extension", + "decreased size of the material anatomical entity", + "Short thumb", + "decreased length of multicellular anatomical structure", + "decreased length of manual digit", + "decreased length of anatomical structure", + "decreased length of material anatomical entity", + "decreased size of the organism subdivision", "decreased size of the anatomical entity", - "Abnormal appendicular skeleton morphology", - "abnormal size of anatomical entity", - "limb long bone", - "zeugopodial skeleton", - "peripheral nervous system", - "paired limb/fin skeleton", - "endochondral bone", - "subdivision of skeleton", + "decreased length of organism subdivision", + "negative regulation of metabolic process phenotype", + "Short finger", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of radius bone", + "forelimb zeugopod bone phenotype", + "decreased multicellular anatomical structure mass", + "Absent radius", + "absent forelimb zeugopod bone", + "U-shaped anatomical entity", + "long bone phenotype", + "Aplasia/hypoplasia involving forearm bones", + "absent bone element in the limb", + "forelimb zeugopod morphology phenotype", + "absent bone of pectoral complex in the forelimb", + "absent long bone", + "bone of pectoral complex morphology phenotype", + "absent forelimb endochondral element in the limb", + "Abnormal forearm bone morphology", + "absent radius bone in the forelimb", + "bone of pectoral complex phenotype", + "limb long bone morphology phenotype", + "absent endochondral bone in the forelimb", + "absent limb endochondral element in the limb", + "delayed growth", + "arm bone phenotype", + "simple eye physiology phenotype", + "absent organ in the forelimb", + "cellular process", + "long bone morphology phenotype", + "absent endochondral element", + "absent organ in the limb", "Aplasia/Hypoplasia of the radius", - "system", - "Aplasia involving bones of the upper limbs", - "abnormal anatomical entity", - "Upper limb undergrowth", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the proximal phalanges of the hand", - "mesopodium bone", - "bone of free limb or fin", - "abnormal autopod region morphology", - "proximal mesopodial endochondral element", + "vestibulo-auditory system", + "absent limb endochondral element", + "absent limb bone", + "forelimb bone phenotype", + "absent bone of free limb or fin in the limb", + "Absent forearm bone", + "decreased size of the organ", + "absent forelimb bone", + "absent bone element", + "Abnormal morphology of the radius", + "Reticulocytopenia", + "absent forelimb bone in the limb", + "absent endochondral element in the forelimb", + "number of anatomical enitites of type bone element phenotype", + "forelimb long bone phenotype", + "nervous system process phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "increased biological_process", + "absent bone of free limb or fin", + "radius bone phenotype", + "absent bone of free limb or fin in the forelimb", + "regulation of biosynthetic process phenotype", + "zeugopod", + "decreased length of anatomical entity", + "bone of pectoral complex", + "nervous system physiology phenotype", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "pathological phenotype observation", + "decreased size of the anatomical entity in the pectoral complex", + "decreased functionality of the gonad", + "decreased sensory perception of sound", + "anatomical system physiology phenotype", + "subdivision of head", + "absent mesoderm-derived structure in the forelimb", + "appendage girdle complex", + "digit phenotype", + "Renal hypoplasia/aplasia", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Hypermelanotic macule", + "absent kidney in the renal system", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "kinesthetic behavior", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "Duplication of hand bones", + "nervous system process", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "decreased size of the anatomical structure", + "organ", + "occurrent", + "subdivision of skeleton", + "endochondral bone", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", + "entity", + "manual digit 1 phalanx endochondral element", + "tissue", + "forelimb zeugopod bone morphology phenotype", + "behavior process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "acropodial skeleton", + "autopod region morphology phenotype", + "appendage", + "anatomical entity phenotype", + "decreased multicellular organismal process", + "root", + "localised testis", "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "limb", + "bone of free limb or fin", + "cavitated compound organ phenotype", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "cardiovascular system", + "absent skeletal element", + "manual digit morphology in the manus phenotype", + "localised cavitated compound organ", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "number of anatomical enitites of type endochondral bone phenotype", + "upper limb segment phenotype", + "endochondral element phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "protein-containing material entity", + "segment of manus", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "multi-limb segment region", + "manual digit plus metapodial segment", + "digit 1 plus metapodial segment", + "anatomical entity length phenotype", + "digit", + "digit 1 or 5 phenotype", + "Abnormal digit morphology", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", "Abnormality of the upper limb", + "limb", "cell", + "absent anatomical entity in the renal system", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "absent skeletal element in the forelimb", + "absent bone of appendage girdle complex in the forelimb", + "pectoral appendage", + "absent organism subdivision", + "Neurodevelopmental abnormality", + "manus phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "axial skeleton plus cranial skeleton", + "Abnormal hand morphology", + "Metazoa", + "absent mesoderm-derived structure", + "Aplasia/hypoplasia involving bones of the extremities", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "digitopodium region", + "skeleton of manus", + "skeleton of limb", + "Aplasia involving forearm bones", + "autopodial extension phenotype", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "G2 phase", + "nervous system phenotype", + "All", + "Aplasia involving bones of the extremities", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "paired limb/fin segment phenotype", + "absent anatomical structure in the forelimb", + "acropodium region", + "Intellectual disability", + "bone marrow", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "erythrocyte morphology phenotype", + "paired limb/fin segment", + "Opisthokonta", + "Duplication of bones involving the upper extremities", + "localised abdominal segment element", + "genitourinary system", + "decreased size of the digit", + "paired limb/fin", + "skeleton phenotype", + "absent forelimb endochondral element", + "limb phenotype", + "paired limb/fin skeleton", + "arm phenotype", + "hematopoietic system", + "agenesis of anatomical entity", + "nucleobase-containing compound metabolic process", + "manus morphology phenotype", + "increased pigmentation", + "material anatomical entity phenotype", + "absent kidney", + "digit 1 phenotype", + "bone of appendage girdle complex", + "arm", + "multicellular anatomical structure mass phenotype", + "male reproductive organ phenotype", + "manual digit", + "limb bone morphology phenotype", + "Abnormal skeletal morphology", + "anatomical system", + "absent anatomical structure in the limb", + "Abnormality of thumb phalanx", + "decreased number of leukocyte", + "decreased size of the sense organ", + "anatomical collection phenotype", + "quality", + "decreased number of platelet", + "Aplasia/hypoplasia of the extremities", + "decreased number of anatomical entity", + "Abnormal cellular phenotype", + "abdominal segment element", + "decreased number of neutrophil", + "renal collecting system phenotype", + "musculature", + "regional part of brain", + "Abnormality of limbs", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "skeletal element", + "taxon specific phenotype", + "granulocyte morphology phenotype", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "cell phenotype", + "obsolete cell", + "programmed DNA elimination", + "anatomical entity morphology phenotype", + "Abnormal localization of kidney", + "size of skull phenotype", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", + "circulatory system", + "bone marrow cell", + "Pancytopenia", + "subdivision of organism along appendicular axis phenotype", + "eye phenotype", + "Abnormal cellular immune system morphology", + "absent multicellular anatomical structure in the limb", + "endocrine system phenotype", + "multicellular organism morphology phenotype", + "skeletal system", + "cavitated compound organ", + "Abnormal leukocyte count", + "number of anatomical enitites of type neutrophil phenotype", + "Abnormal myeloid cell morphology", + "U-shaped kidney", + "digit 1 or 5", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "subdivision of skeletal system phenotype", + "Abnormal reticulocyte morphology", + "number of hematopoietic cell phenotype", + "postcranial axial skeleton", + "absent radius endochondral element", + "skeleton", + "Abnormal bleeding", + "immune system phenotype", + "decreased functionality of the organ", + "aplasia or hypoplasia of manual digit 1", + "reproductive system physiology phenotype", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "ear phenotype", + "anatomical entity", + "absent autopodial extension", + "hematopoietic system phenotype", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Abnormal immune system morphology", + "number of platelet phenotype", + "external genitalia", + "skeleton of pectoral complex", + "eukaryotic cell", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "arm bone", + "Abnormal myeloid leukocyte morphology", + "absent forelimb zeugopod bone in the forelimb", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "structure with developmental contribution from neural crest phenotype", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "immune system", + "organ system subdivision", + "erythrocyte", + "decreased number of cell", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "Abnormality of skin pigmentation", + "phenotypic effect", + "size of anatomical entity phenotype", + "absent anatomical entity in the multicellular organism", + "organ physiology phenotype", + "Abnormal cell morphology", + "phenotype", "limb endochondral element", - "Short forearm", - "delayed biological_process", - "Aplasia/hypoplasia involving bones of the hand", - "bone element hypoplasia in independent continuant", - "Unilateral facial palsy", - "paired limb/fin segment", - "multi-limb segment region", - "endochondral element", + "digit plus metapodial segment", + "skeletal system phenotype", + "absent anatomical entity", + "Bruising susceptibility", + "absent compound organ in the renal system", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "bone of appendage girdle complex phenotype", + "number of anatomical enitites of type lateral structure phenotype", + "shape kidney", + "ectoderm-derived structure physiology phenotype", + "negative regulation of metabolic process", + "nervous system morphology phenotype", + "manual digit 1 or 5", + "myeloid leukocyte", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "manual digitopodium bone", + "localised lateral structure", + "vision/eye phenotype", + "absent multicellular anatomical structure in the skeletal system", + "organism subdivision", + "cell cycle phenotype", + "regional part of brain phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "neutrophil phenotype", + "external male genitalia", + "aplasia or hypoplasia of skeleton", + "cellular response to stress phenotype", + "craniocervical region morphology phenotype", + "localised multicellular anatomical structure", + "main body axis", + "decreased functionality of the reproductive organ", + "non-connected functional system", + "absent bone of appendage girdle complex in the limb", + "number of cell phenotype", + "number of leukocyte phenotype", + "platelet", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "Abnormal limb bone morphology", + "absent digit", + "musculoskeletal system", + "absent material anatomical entity in the forelimb", + "manual digit phenotype", + "anatomical system phenotype", + "musculature phenotype", + "number of myeloid cell phenotype", + "DNA metabolic process phenotype", + "multi-limb segment region phenotype", + "hemolymphoid system", + "decreased number of material anatomical entity", + "absent mesoderm-derived structure in the limb", + "autopod region phenotype", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "anatomical structure mass phenotype", + "multicellular organism", + "decreased functionality of the anatomical structure", + "Thrombocytopenia", + "leukocyte", + "increased biological_process in skin of body", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "number of anatomical enitites of type compound organ phenotype", + "cellular response to stimulus phenotype", + "absent bone element in the forelimb", + "Abnormal appendicular skeleton morphology", + "anatomical structure physiology phenotype", "bone element", - "pectoral complex", - "trunk region element", - "skeletal system", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Limb undergrowth", - "abnormal upper urinary tract", - "paired limb/fin", - "metacarpus region", - "Hypoplasia of the radius", - "anatomical collection", - "All", - "Aplasia involving bones of the extremities", - "decreased size of the anatomical entity in the independent continuant", - "forelimb zeugopod bone hypoplasia", - "Abnormal skeletal morphology", - "arm bone", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "obsolete cellular aromatic compound metabolic process", - "abnormal facial muscle", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "blood vessel", - "outflow tract", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "limb segment", - "craniocervical region", - "aplasia or hypoplasia of manual digit 1 phalanx", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of limb", - "Aplasia involving forearm bones", - "Aplasia/Hypoplasia of fingers", + "mesoderm-derived structure phenotype", + "decreased number of hematopoietic cell", + "absent anatomical entity in the forelimb", + "multicellular anatomical structure", "primary metabolic process", + "Abnormality of the skin", "forelimb endochondral element", - "abnormal limb bone morphology", - "radius endochondral element", - "regulation of cellular metabolic process", - "individual digit of digitopodial skeleton", - "manus", - "head", - "Abnormal forearm bone morphology", + "Abnormality of globe size", + "bone element phenotype", + "cell cycle", + "pectoral complex", + "decreased size of the manual digit", + "trunk region element", + "absent limb long bone in the forelimb", + "Anemic pallor", + "cellular metabolic process", + "superficial fascia", + "Abnormality of neutrophils", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", "digit 1 digitopodial skeleton", - "Abnormality of the skeletal system", - "facial nerve", - "Aplasia/hypoplasia involving bones of the extremities", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "protein-containing material entity", - "proximal carpal endochondral element", - "abnormal skeletal system morphology", - "segment of manus", - "abnormal anatomical entity morphology in the pectoral complex", - "Aplasia/hypoplasia of the extremities", - "forelimb bone", - "anatomical entity hypoplasia", - "skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "regulation of biosynthetic process", - "nucleic acid metabolic process", + "decreased number of myeloid cell", + "decreased size of the autopodial extension", + "absent bone of pectoral complex in the limb", "process", - "Congenital malformation of the great arteries", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "acropodial skeleton", - "Abnormal muscle physiology", - "musculoskeletal system", - "abnormal cellular metabolic process", - "absent radius bone", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "subdivision of skeletal system", - "entity", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "absent anatomical entity in the metacarpus region", - "material anatomical entity", - "muscle structure", - "chromatin organization", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "carpal bone", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal manus", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "arm", - "protein-DNA complex organization", - "abnormal systemic artery morphology", - "appendicular skeletal system", - "abdomen element", - "postcranial axial skeletal system", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "quality", - "forelimb zeugopod skeleton", - "regulation of cellular biosynthetic process", - "Abnormality of the genitourinary system", - "forebrain", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "limb bone", - "Aplasia of the proximal phalanges of the hand", - "abnormality of nervous system physiology", - "regional part of nervous system", - "abnormal cellular process", - "forelimb skeleton", - "genitourinary system", - "abnormal limb", - "negative regulation of cellular process", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "biological regulation", - "abdominal segment of trunk", - "abnormal forelimb zeugopod morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "cellular metabolic process", - "abnormal cranial nerve morphology", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "musculature of face", - "cellular component organization", - "abnormal cellular component organization", - "compound organ", - "Abnormality of the peripheral nervous system", - "articular system", - "negative regulation of biological process", - "absent digit", - "nucleobase-containing compound metabolic process", - "renal system", - "abnormally localised kidney", - "obsolete nitrogen compound metabolic process", - "thoracic segment blood vessel", - "excretory system", - "circulatory system", - "abnormal digit", - "cellular organisms", - "thoracic segment of trunk", - "Abnormality of the musculature", - "short bone", - "abnormal organelle organization", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "mesoderm-derived structure", - "autopod bone", - "metabolic process", - "Abnormal morphology of the radius", - "abnormal skeletal joint morphology", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "abnormal chromatin organization", - "Chromosome breakage", + "anatomical entity morphology in the pectoral complex phenotype", + "number of anatomical enitites of type kidney phenotype", + "Abnormal granulocyte morphology", + "glandular system", + "Abnormal male external genitalia morphology", + "subdivision of head phenotype", + "blood cell phenotype", + "decreased number of granulocyte", + "multicellular anatomical structure phenotype", + "regulation of metabolic process", + "Decreased body weight", + "decreased size of the ectoderm-derived structure", + "manual digit 1", + "autopodial extension", + "absent trunk region element in the renal system", "continuant", - "forelimb zeugopod", - "abnormality of muscle organ physiology", + "paired limb/fin phenotype", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "musculature of body", + "camera-type eye phenotype", + "manus", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "integument phenotype", + "Abnormal eye physiology", "segment of autopod", - "organic cyclic compound metabolic process", - "manual digitopodium bone", + "response to stimulus phenotype", + "reproductive system", + "anatomical entity morphology in the manus phenotype", + "sensory perception of mechanical stimulus phenotype", + "anatomical line between pupils", "independent continuant", - "abnormal growth", - "articulation", - "Abnormality of facial musculature", - "aplasia or hypoplasia of proximal phalanx of manus", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "abnormal primary metabolic process", - "Abnormal joint morphology", - "body proper", - "abnormal peripheral nervous system", - "regulation of cellular process", - "biological_process", - "Abnormal localization of kidney", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal anatomical entity topology in independent continuant", - "cellular process", - "Abnormal digit morphology", - "abnormally localised anatomical entity", - "phenotype by ontology source", - "thoracic segment organ", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "appendicular skeleton", - "upper limb segment", - "organ", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "aplastic manual digit 1 phalanx", - "muscle organ", - "multicellular organism", - "regulation of macromolecule biosynthetic process", - "decreased length of forelimb zeugopod bone", - "Abnormality of the kidney", - "paralysed anatomical entity", - "phalanx endochondral element", - "abnormal carpal bone morphology", - "abnormal kidney morphology", - "macromolecule metabolic process", - "vascular system", - "Ectopic kidney", - "skeletal element", - "zeugopod", - "cavitated compound organ", - "abnormal brain morphology", - "abnormal phenotype by ontology source", + "aplastic manual digit 1", + "number of anatomical enitites of type organism subdivision phenotype", + "anatomical structure", + "localised trunk region element", + "absent lateral structure", + "Anemia", + "manus bone", + "Abnormality of the hand", + "radius bone", + "Subcutaneous hemorrhage", + "absent organism subdivision in the multicellular organism", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "limb segment", + "cellular organisms", + "Abnormal neutrophil count", + "forelimb morphology phenotype", + "absent manual digit", "Abnormal thumb morphology", "subdivision of trunk", - "absent manual digit", - "proximal phalanx of manus", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "obsolete cell", - "decreased length of long bone", - "programmed DNA elimination", - "subdivision of organism along main body axis", - "negative regulation of cellular biosynthetic process", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", - "Abnormality of the upper urinary tract", - "vasculature", - "abnormal renal system", - "organ system subdivision", - "abnormal forelimb zeugopod bone", - "manual digit 1 phalanx", - "nervous system", + "subdivision of organism along appendicular axis", + "absent anatomical structure in the multicellular organism", + "telencephalon phenotype", + "male reproductive system phenotype", + "autopodial skeleton", + "DNA damage response", + "lateral structure", + "cellular process phenotype", + "multicellular organism phenotype", + "external genitalia phenotype", + "system process", + "Abnormality of mental function", + "external male genitalia phenotype", + "absent organ in the multicellular organism", + "multicellular organismal process", + "Hypergonadotropic hypogonadism", + "material anatomical entity physiology phenotype", + "number of anatomical enitites of type granulocyte phenotype", + "reproductive structure physiology phenotype", + "behavior phenotype", "forelimb zeugopod bone", - "Abnormality of brain morphology", - "Aplasia of the phalanges of the hand", - "appendage girdle complex", - "subdivision of head", - "trunk", - "skeletal musculature", - "anatomical entity hypoplasia in independent continuant", - "skeletal musculature of head", - "anatomical system", + "nervous system", + "renal system", + "endochondral bone phenotype", + "cognition", + "absent abdominal segment element", + "localised anatomical structure", + "simple eye phenotype", + "abdomen element", + "absent anatomical structure", + "localised kidney", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "absent cavitated compound organ", "Abnormal renal morphology", + "forelimb endochondral element phenotype", "Aplasia/Hypoplasia involving the central nervous system", - "abnormal anatomical entity morphology in the heart", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "appendage", - "root", - "Aplasia/Hypoplasia of the phalanges of the thumb", - "abnormally localised anatomical entity in independent continuant", - "regulation of biological process", - "arterial blood vessel", - "manual digitopodium region", - "upper urinary tract", - "aplastic carpal bone", - "abnormal renal system morphology", - "abnormal appendicular skeleton morphology", - "abnormality of cranial nerve physiology", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "aplasia or hypoplasia of anatomical entity", - "radius bone hypoplasia", - "aplastic forelimb zeugopod bone", - "Abnormality of the vasculature", - "subdivision of organism along appendicular axis", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal ductus arteriosus morphology", - "manual digit plus metapodial segment", - "agenesis of anatomical entity", - "aplastic manual digit 1", - "Abnormal finger phalanx morphology", - "Abnormal finger morphology", - "Aplasia/Hypoplasia of the thumb", - "absent metacarpal bone", - "absent anatomical entity", - "manual digit phalanx endochondral element", - "abnormal manual digit morphology in the independent continuant", - "manual digit bone", - "Abnormal morphology of the great vessels", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "aplasia or hypoplasia of manual digit 1", - "abdomen", - "manual digit 1 plus metapodial segment", - "manual digit", - "digit", - "Facial palsy", - "digit 1 or 5", - "skeleton of manual digitopodium", + "renal system phenotype", + "nucleic acid metabolic process", + "absent endochondral bone in the limb", + "renal collecting system", + "immune system morphology phenotype", + "Ectopic kidney", + "Hearing abnormality", + "absent anatomical structure in the renal system", "primary circulatory organ", - "autopodial skeleton", - "abnormal skeletal joint morphology in the pectoral complex", - "digitopodium region", - "acropodium region", + "skeleton of manual digitopodium", + "absent endochondral bone", + "localised organ", + "body proper", + "DNA repair phenotype", + "skeleton of digitopodium", + "Short digit", + "absent multicellular anatomical structure in the renal system", + "eye", + "compound organ", + "zeugopodial skeleton", + "limb long bone", "Finger aplasia", - "Abnormal proximal phalanx morphology of the hand", + "abdominal segment element phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "absent radius endochondral element in the forelimb", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "Irregular hyperpigmentation", + "male organism", + "negative regulation of gene expression phenotype", + "localised compound organ", + "Abnormal granulocyte count", + "skin of body phenotype", + "Abnormality of the kidney", + "trunk", + "absent trunk region element in the multicellular organism", + "blood cell", + "Abnormality of the genitourinary system", + "excretory system", + "subdivision of organism along main body axis", + "Abnormal conjugate eye movement", + "renal/urinary system phenotype", + "forelimb bone", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "upper urinary tract phenotype", + "integument", + "platelet phenotype", + "biological_process", + "genitourinary system phenotype", + "decreased length of digit", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "upper urinary tract", + "Growth delay", + "kidney", + "regional part of nervous system", + "telencephalon morphology phenotype", + "skull phenotype", + "forelimb", + "Abnormal forebrain morphology", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "limb long bone phenotype", + "multi-tissue structure", + "regulation of macromolecule biosynthetic process phenotype", + "Decreased head circumference", + "Abnormality of the nervous system", + "central nervous system morphology phenotype", + "cardiovascular system morphology phenotype", + "Growth abnormality", + "axial skeletal system", + "absent arm bone", + "reproductive organ", + "primary metabolic process phenotype", + "forebrain morphology phenotype", + "Abnormality of body weight", "aplasia or hypoplasia of telencephalon", - "abnormal nervous system", - "abnormal musculature", - "abnormal forebrain morphology", + "decreased size of the multicellular organism", + "Abnormal bone marrow cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", + "Abnormality of skull size", + "craniocervical region", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "subdivision of organism along main body axis phenotype", + "regulation of gene expression phenotype", + "system", + "brain morphology phenotype", + "forelimb skeleton", + "endocrine system", + "head morphology phenotype", + "Hematological neoplasm", + "regional part of nervous system phenotype", + "decreased length of manual digit 1 or 5", + "decreased functionality of the multicellular anatomical structure", + "ectoderm-derived structure phenotype", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "absent limb bone in the forelimb", + "erythroid lineage cell", + "telencephalon", + "head phenotype", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "decreased sensory perception of mechanical stimulus", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "cranial skeletal system", + "craniocervical region phenotype", + "brain", + "Abnormality of head or neck", + "Abnormal skull morphology", + "Abnormal brain morphology", + "absent material anatomical entity in the skeletal system", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "skull", + "autopod endochondral element", + "homeostatic process phenotype", + "Abnormality of limb bone", + "central nervous system", + "Abnormality of the genital system", + "reproductive organ physiology phenotype", + "decreased functionality of the material anatomical entity", + "Puberty and gonadal disorders", + "myeloid leukocyte phenotype", + "forebrain", + "gonad physiology phenotype", + "nucleate cell", + "reproductive structure phenotype", + "multicellular anatomical structure physiology phenotype", + "limb endochondral element phenotype", + "number of anatomical enitites of type abdomen element phenotype", + "absent arm bone in the forelimb", + "viscus", + "anatomical entity mass phenotype", + "reproductive organ phenotype", + "sense organ phenotype", + "Abnormality of reproductive system physiology", + "absent lateral structure in the renal system", + "behavior process phenotype", + "reproductive system phenotype", + "skull morphology phenotype", + "localised reproductive structure", + "gonad phenotype", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "Neutropenia", + "reproductive structure", + "vasculature phenotype", + "growth phenotype", + "Abnormality of the endocrine system", + "number of anatomical enitites of type skeletal element phenotype", + "number of anatomical enitites of type abdominal segment element phenotype", + "neutrophil", + "absent abdomen element", + "decreased number of anatomical structure", + "absent cavitated compound organ in the renal system", + "number of anatomical enitites of type organ phenotype", + "Duplication of phalanx of hand", + "number of anatomical enitites of type cavitated compound organ phenotype", + "absent organ", + "manual digit phalanx endochondral element", + "number of anatomical enitites of type trunk region element phenotype", + "decreased functionality of the reproductive structure", + "Cryptorchidism", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "absent trunk region element", + "Renal agenesis", + "motile cell", + "absent abdominal segment element in the renal system", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "absent organ in the renal system", + "digit morphology phenotype", + "absent abdomen element in the renal system", + "absent material anatomical entity in the renal system", + "Abnormal platelet count", + "absent compound organ", + "oxygen accumulating cell", + "Abnormality of the integument", + "erythroid lineage cell morphology phenotype", + "sensory perception of mechanical stimulus", + "Abnormal upper limb bone morphology", + "skin of body", + "integumental system", + "material anatomical entity", + "skin of body morphology phenotype", + "Abnormal skin morphology", + "shape of continuant phenotype", + "anucleate cell", + "Abnormality of thrombocytes", + "limb bone phenotype", + "secretory cell", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "absent bone of appendage girdle complex", + "organ phenotype", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "testis", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "cardiovascular system phenotype", + "localised abdomen element", + "Abnormal testis morphology", + "disconnected anatomical group", + "male reproductive organ", + "testis phenotype", + "response to stress phenotype", + "Small for gestational age", + "Abnormal forearm morphology", + "absent forelimb bone in the forelimb", + "absent limb bone in the limb", + "aplastic forelimb zeugopod bone", + "forelimb long bone", + "serotonin secreting cell", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", + "radius endochondral element", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Aplasia involving bones of the upper limbs", + "Abnormal cerebral morphology", + "limb segment phenotype", + "absent endochondral element in the limb", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "forelimb zeugopod", + "absent limb long bone", + "absent limb endochondral element in the forelimb", + "regulation of biological process phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "number of anatomical enitites of type endochondral element phenotype", + "absent skeletal element in the limb", + "Pallor", + "absent radius bone", + "absent anatomical structure in the skeletal system", + ], + "has_phenotype_count": 32, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0012187", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group J", + "full_name": None, + "deprecated": None, + "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.", + "xref": [ + "DOID:0111097", + "GARD:15449", + "MEDGEN:323015", + "MESH:C563801", + "NCIT:C129027", + "OMIM:609054", + "UMLS:C1836860", + ], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCJ", + "Fanconi Anemia, complementation group type J", + "Fanconi anaemia complementation group type J", + "Fanconi anemia complementation group J", + "Fanconi anemia complementation group type J", + "Fanconi anemia, complementation group J", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0008897", + "HP:0009778", + "HP:0005528", + "HP:0001511", + "HP:0007565", + "HP:0000568", + "HP:0001263", + "HP:0003221", + ], + "has_phenotype_label": [ + "Postnatal growth retardation", + "Short thumb", + "Bone marrow hypocellularity", + "Intrauterine growth retardation", + "Multiple cafe-au-lait spots", + "Microphthalmia", + "Global developmental delay", + "Chromosomal breakage induced by crosslinking agents", + ], + "has_phenotype_closure": [ + "GO:0005623", + "UPHENO:0050007", + "UPHENO:0049775", + "HP:0001939", + "GO:0010468", + "GO:0031327", + "UPHENO:0049904", + "GO:0050794", + "GO:0019222", + "GO:0048519", + "GO:0065007", + "GO:0008152", + "GO:0060255", + "GO:0048523", + "UPHENO:0050025", + "UPHENO:0050435", + "UPHENO:0050063", + "HP:0003220", + "GO:0031049", + "UPHENO:0078606", + "GO:0031052", + "GO:0009890", + "GO:0031324", + "HP:0003221", + "GO:0010629", + "UPHENO:0050778", + "UPHENO:0002267", + "UPHENO:0002269", + "UPHENO:0049620", + "HP:0001263", + "HP:0012638", + "UPHENO:0002385", + "UPHENO:0004523", + "UPHENO:0002433", + "HP:0012372", + "UBERON:0010230", + "UPHENO:0086589", + "UBERON:0004088", + "UBERON:0000033", + "UBERON:0004456", + "HP:0000234", + "UBERON:0002104", + "HP:0000568", + "UBERON:0000020", + "UBERON:0007811", + "HP:0000315", + "UPHENO:0069523", + "UPHENO:0069064", + "GO:0050789", + "UBERON:0013701", + "UPHENO:0003020", + "UPHENO:0002764", + "HP:0000271", + "HP:0000152", + "HP:0000478", + "UPHENO:0002910", + "UPHENO:0087907", + "UBERON:0000970", + "UPHENO:0069161", + "UPHENO:0003025", + "UBERON:0001032", + "UPHENO:3000000", + "UPHENO:0075219", + "HP:0001034", + "HP:0011121", + "GO:0009889", + "UPHENO:0002548", + "HP:0000953", + "UPHENO:0050784", + "UPHENO:0076739", + "UPHENO:0054970", + "GO:0043473", + "HP:0001574", + "UPHENO:0050008", + "HP:0007565", + "UPHENO:0049757", + "HP:0000957", + "UPHENO:0002816", + "HP:0008056", + "UPHENO:0069062", + "UPHENO:0002880", + "UPHENO:0002559", + "UBERON:5002544", + "UBERON:0034923", + "UPHENO:0087006", + "HP:0005922", + "HP:0040012", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0011216", + "UPHENO:0080126", + "UPHENO:0002530", + "HP:0000924", + "UPHENO:0084761", + "UPHENO:0069605", + "UPHENO:0002708", + "UBERON:0001463", + "UBERON:0000468", + "UBERON:0012475", + "UPHENO:0012274", + "HP:0100887", + "UBERON:0012140", + "UBERON:0004375", + "UPHENO:0080114", + "UPHENO:0005433", + "UBERON:0010912", + "UPHENO:0002600", + "HP:0009115", + "GO:0009892", + "GO:0010605", + "UPHENO:0080079", + "HP:0011844", + "HP:0000707", + "UPHENO:0086172", + "HP:0011927", + "UPHENO:0052778", + "UBERON:0002398", + "UPHENO:0080099", + "UPHENO:0002782", + "UPHENO:0076703", + "UPHENO:0002983", + "GO:0031326", + "UPHENO:0002526", + "HP:0001510", + "UBERON:0002470", + "HP:0001871", + "UBERON:0000019", + "UBERON:0010708", + "UBERON:0002371", + "UPHENO:0069266", + "UPHENO:0076692", + "UPHENO:0002536", + "UPHENO:0046528", + "UPHENO:0002568", + "UBERON:0015061", + "UPHENO:0074575", + "HP:0011017", + "UBERON:0012141", + "UPHENO:0002976", + "UPHENO:0079876", + "UPHENO:0049642", + "UPHENO:0050106", + "UPHENO:0046624", + "UPHENO:0076723", + "UBERON:0005451", + "UPHENO:0012440", + "UPHENO:0002554", + "BFO:0000001", + "UPHENO:0087472", + "UPHENO:0069327", + "UPHENO:0046707", + "HP:0001172", + "HP:0000118", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0002928", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0001456", + "UPHENO:0000541", + "UPHENO:0005642", + "BFO:0000015", + "UPHENO:0002905", + "UBERON:0012139", + "UBERON:0010538", + "UBERON:0019221", + "UPHENO:0046750", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0049587", + "UBERON:0005881", + "UPHENO:0002632", + "UBERON:0002102", + "UPHENO:0001001", + "UPHENO:0080209", + "UPHENO:0068914", + "UBERON:0012354", + "HP:0001000", + "UPHENO:0002525", + "UPHENO:0002870", + "HP:0001507", + "HP:0009601", + "HP:0009381", + "UPHENO:0050040", + "UPHENO:0002593", + "PATO:0000001", + "UBERON:0011249", + "UBERON:0004120", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0050065", + "UPHENO:0002861", + "UBERON:0010707", + "HP:0001167", + "HP:0040064", + "UPHENO:0080662", + "BFO:0000002", + "UBERON:0006048", + "UPHENO:0002733", + "UBERON:0002091", + "UPHENO:0046411", + "UBERON:0013702", + "HP:0002813", + "UBERON:0002389", + "UPHENO:0002896", + "UPHENO:0050126", + "UPHENO:0069684", + "HP:0000951", + "UBERON:0015212", + "UPHENO:0046552", + "GO:0010558", + "UBERON:0008785", + "UPHENO:0002866", + "UPHENO:0076724", + "UBERON:0000061", + "UPHENO:0046741", + "UPHENO:0074584", + "BFO:0000040", + "UPHENO:0081581", + "UBERON:5001463", + "UBERON:0000062", + "UPHENO:0003811", + "GO:0048856", + "GO:0040007", + "UBERON:0001460", + "UPHENO:0068971", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:3000007", + "UBERON:0010740", + "UBERON:0004121", + "UBERON:0010712", + "UPHENO:0002635", + "GO:0031323", + "UBERON:0002513", + "UBERON:0002529", + "UPHENO:0049874", + "UPHENO:0003799", + "BFO:0000003", + "UBERON:5002389", + "GO:0010556", + "PR:000050567", + "UPHENO:0046505", + "UBERON:0004708", + "UPHENO:0049743", + "UPHENO:0087924", + "UPHENO:0001002", + "HP:0006265", + "BFO:0000020", + "UPHENO:0076727", + "UPHENO:0049868", + "UPHENO:0003082", + "UBERON:0001015", + "GO:0042592", + "UBERON:0034925", + "UPHENO:0050034", + "HP:0012758", + "UPHENO:0002945", + "UPHENO:0075997", + "UPHENO:0003049", + "GO:0008150", + "UPHENO:0002830", + "UPHENO:0084448", + "UBERON:0004710", + "UBERON:0010758", + "UPHENO:0046740", + "UPHENO:0052160", + "UPHENO:0076740", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0046483", + "HP:0012759", + "UBERON:0002097", + "UPHENO:0002648", + "UPHENO:0003069", + "HP:0002817", + "HP:0005927", + "UPHENO:0002926", + "UPHENO:0003065", + "UBERON:0002544", + "UPHENO:0002948", + "BFO:0000004", + "UBERON:0004381", + "UPHENO:0004476", + "UBERON:0007272", + "HP:0006496", + "HP:0009778", + "UBERON:0001434", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0003005", + "UBERON:0002416", + "UPHENO:0046426", + "RO:0002577", + "HP:0040068", + "UBERON:5006048", + "UBERON:0000479", + "UPHENO:0082875", + "UBERON:0001474", + "UPHENO:0080382", + "UPHENO:0086633", + "HP:0045060", + "UPHENO:0084763", + "UBERON:0010363", + "UPHENO:0012312", + "UPHENO:0075195", + "UPHENO:0086700", + "HP:0001155", + "HP:0007400", + "UPHENO:0069236", + "HP:0012733", + "UPHENO:0046445", + "UBERON:0000475", + "UPHENO:0003095", + "UBERON:0000383", + "UPHENO:0012308", + "HP:0009815", + "UBERON:0000075", + "UPHENO:0088186", + "UPHENO:0002944", + "UBERON:0011676", + "UPHENO:0002586", + "HP:0005528", + "UPHENO:0005597", + "UBERON:0000465", + "UPHENO:0000543", + "HP:0001511", + "UBERON:0000047", + "UPHENO:0069674", + "HP:0025461", + "UPHENO:0053456", + "HP:0002715", + "HP:0025354", + "UPHENO:0080393", + "HP:0012145", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0002963", + "CL:0000000", + "UBERON:0000153", + "HP:0008897", + "HP:0005561", + "UBERON:0015203", + "CL:0002092", + "GO:0007275", + "CL:0001035", + "UPHENO:0049966", + "UBERON:0006058", + "UPHENO:0052694", + "UBERON:0011582", + "UPHENO:0052178", + "HP:0011297", + "UPHENO:0050068", + "UBERON:0004288", + "UPHENO:0050108", + "UBERON:0001016", + "UPHENO:0080377", + "GO:0009790", + "UPHENO:0005647", + "UBERON:0002204", + "UPHENO:0005596", + "GO:0032501", + "UBERON:0001440", + "GO:0032502", + "UBERON:0001444", + "HP:0011842", + "UPHENO:0053330", + "UBERON:0002428", + "UPHENO:0004459", + "UPHENO:0054957", + "UPHENO:0005573", + "HP:0011355", + "UBERON:0002193", + "UBERON:0002199", + ], + "has_phenotype_closure_label": [ + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "negative regulation of cellular metabolic process", + "Chromosome breakage", + "negative regulation of biological process phenotype", + "homeostatic process", + "Chromosomal breakage induced by crosslinking agents", + "regulation of metabolic process phenotype", + "regulation of cellular metabolic process phenotype", + "Abnormality of metabolism/homeostasis", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "negative regulation of biological process", + "obsolete cell", + "biological regulation phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "programmed DNA elimination", + "nervous system", + "material anatomical entity physiology phenotype", "Abnormality of the nervous system", - "Abnormal hand morphology", - "Metazoa", - "axial skeleton plus cranial skeleton", - "heart vasculature", - "cranial neuron projection bundle", - "abnormal craniocervical region morphology", - "abnormal nervous system morphology", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "Abnormal skull morphology", - "abnormal metacarpal bone morphology", - "abnormal anatomical entity morphology in the brain", - "Decreased head circumference", - "telencephalon", - "Abnormal peripheral nerve morphology by anatomical site", - "Weakness of facial musculature", - "Growth abnormality", - "axial skeletal system", - "cranial skeletal system", + "anatomical entity physiology phenotype", + "Neurodevelopmental abnormality", + "nervous system physiology phenotype", + "anatomical structure physiology phenotype", + "Global developmental delay", + "camera-type eye", "Abnormality of head or neck", - "Aplasia/hypoplasia involving forearm bones", - "metapodium region", - "abnormal head morphology", - "abnormal head", - "Abnormality of skull size", - "decreased muscle organ strength", - "postcranial axial skeleton", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormality of limb bone", - "autopod endochondral element", - "central nervous system", - "regional part of brain", - "metacarpus skeleton", - "musculature", - "forelimb long bone", - "abnormal size of skull", - "forelimb", - "Abnormal forebrain morphology", - "heart", - "organic substance metabolic process", + "Abnormality of the face", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "craniocervical region phenotype", + "main body axis", + "subdivision of organism along main body axis", + "Abnormality of the orbital region", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "camera-type eye morphology phenotype", + "biological regulation", + "regulation of cellular biosynthetic process", + "Abnormality of globe size", + "face phenotype", + "head morphology phenotype", + "orbital region", + "regulation of biosynthetic process phenotype", + "subdivision of organism along main body axis phenotype", + "craniocervical region", + "body proper", + "Abnormal nervous system physiology", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "regulation of cellular process", + "craniofacial/craniocervical phenotype", "Abnormality of the head", - "abnormal limb morphology", - "anatomical conduit", - "abnormal skeletal joint morphology in the independent continuant", + "sense organ phenotype", + "simple eye", + "face morphology phenotype", + "homeostatic process phenotype", + "subdivision of head phenotype", + "regulation of cellular biosynthetic process phenotype", + "Abnormal skin morphology", + "increased biological_process", + "increased pigmentation in skin of body", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "Irregular hyperpigmentation", + "ectoderm-derived structure phenotype", + "skin of body phenotype", + "pigmentation", + "Abnormality of the integument", + "endochondral element", + "organism subdivision phenotype", + "multi-limb segment region", + "digit 1 or 5 phenotype", + "limb segment phenotype", + "organism subdivision", + "vision/eye phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "process", + "digit 1 plus metapodial segment", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "regulation of biological process", + "digit 1 phenotype", + "bone of appendage girdle complex", + "integumental system", + "anatomical entity morphology in the manus phenotype", + "independent continuant", + "decreased multicellular organism development", + "decreased length of digit 1", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "decreased size of the digit", + "negative regulation of metabolic process", + "musculature phenotype", + "sense organ", + "anatomical system phenotype", + "craniocervical region morphology phenotype", + "aplasia or hypoplasia of skeleton", + "bone of free limb or fin", + "digit morphology phenotype", + "musculature of body", + "Neurodevelopmental delay", + "pectoral appendage", + "aplasia or hypoplasia of eyeball of camera-type eye", + "sensory system", + "multicellular organism morphology phenotype", + "subdivision of organism along appendicular axis phenotype", + "manus", + "integument phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "bone marrow", + "acropodium region", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "limb bone phenotype", + "manual digit plus metapodial segment", + "protein-containing material entity", + "segment of manus", + "multicellular organismal process", + "limb bone", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormality of skin pigmentation", + "skeleton of limb", + "Abnormality of the skin", + "organ system subdivision phenotype", + "anatomical structure", + "musculature", + "developmental process rate phenotype", + "Abnormal digit morphology", + "anterior region of body", + "skeletal system", + "skin of body", + "Abnormality of the musculoskeletal system", + "decreased length of manual digit 1", + "forelimb skeleton", + "autopod region phenotype", + "taxon specific phenotype", + "paired limb/fin phenotype", + "decreased length of anatomical structure", + "decreased developmental process", + "autopodial extension phenotype", + "Short finger", + "skeleton of manus", + "mesoderm-derived structure", + "paired limb/fin segment phenotype", + "developmental process phenotype", + "lateral structure", + "Short digit", + "upper limb segment", + "appendicular skeleton", + "Abnormal cellular physiology", + "forelimb morphology phenotype", + "limb segment", + "digit 1", + "aplasia or hypoplasia of manual digit", "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "Short long bone", - "abnormal skull morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", + "biological_process", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "entire sense organ system", + "continuant", + "anatomical system physiology phenotype", + "tissue", + "delayed biological_process", + "manual digit morphology in the manus phenotype", + "limb skeleton subdivision", + "nervous system phenotype", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "decreased length of material anatomical entity", + "decreased qualitatively biological_process", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of the hand", + "decreased size of the multicellular anatomical structure", + "decreased qualitatively embryo development", + "skeleton phenotype", + "aplasia or hypoplasia of manual digit 1", + "decreased size of the organism subdivision", + "material anatomical entity", + "bone element", + "mesoderm-derived structure phenotype", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "manus phenotype", + "paired limb/fin", + "specifically dependent continuant", "growth", - "abnormal biological_process", - "kidney", + "Abnormal thumb morphology", + "decreased size of the ectoderm-derived structure", + "subdivision of organism along appendicular axis", + "multicellular organism development phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "multicellular organismal process phenotype", + "manual digitopodium region", + "Abnormal eye morphology", + "manual digit", + "pectoral appendage skeleton", + "quality", + "decreased length of multicellular anatomical structure", "Growth delay", - "lateral structure", - "vessel", + "Abnormal limb bone morphology", + "manus morphology phenotype", + "material anatomical entity phenotype", + "decreased length of digit 1 or 5", + "growth phenotype", + "decreased length of autopodial extension", + "endochondral bone", + "upper limb segment phenotype", + "subdivision of skeleton", + "programmed DNA elimination by chromosome breakage", + "face", + "anatomical entity morphology phenotype", + "Growth abnormality", + "manual digit 1 plus metapodial segment", + "embryo development phenotype", + "manual digit 1 or 5", + "anatomical system", "delayed growth", - "abnormal cardiovascular system", - "absent forelimb zeugopod bone", - "systemic arterial system", - "absent radius bone in the independent continuant", - "abnormal manual digit 1 morphology", - "Absent forearm bone", - "Absent radius", - "absent radius bone in the forelimb", - "Patent ductus arteriosus", - "abnormal cardiovascular system morphology", - "abnormal phalanx of manus morphology", - "abnormal genitourinary system", - "abnormal vasculature", - "abnormal incomplete closing of the anatomical entity", - "abnormal great vessel of heart morphology", - "arterial system", - "blood vasculature", - "long bone", + "limb endochondral element", + "phenotype", + "Abnormal cell morphology", + "Abnormal appendicular skeleton morphology", "material entity", - "negative regulation of biosynthetic process", - "phalanx of manus", - "abnormal limb long bone morphology", - "heart blood vessel", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal coronary vessel morphology", - "nerve", - "heart plus pericardium", - "vasculature of trunk", - "mesopodium region", - "aplasia or hypoplasia of metacarpal bone", - "systemic artery", - "abnormal cell", + "Macule", + "anatomical collection phenotype", + "limb bone morphology phenotype", + "autopodial skeleton", + "digit 1 or 5", + "bone of appendage girdle complex phenotype", + "decreased size of the manual digit", + "anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively anatomical structure development", + "arm", + "hematopoietic system", + "arm phenotype", + "multicellular organism", "disconnected anatomical group", - "viscus", - "Abnormal heart morphology", - "negative regulation of macromolecule biosynthetic process", - "abnormal vascular system morphology", - "anatomical cluster", - "abnormal blood vessel morphology", - "abnormal artery morphology in the independent continuant", - "great vessel of heart", - "trunk blood vessel", - "Abnormal forearm morphology", - "abnormal artery morphology", - "abnormality of anatomical entity physiology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "Abnormal blood vessel morphology", - "conceptus", - "abnormal incomplete closing of the ductus arteriosus", - "coronary vessel", - "musculature of body", - "artery", - "abnormal opening of the anatomical entity", - "ductus arteriosus", - "abnormal arm", - "Abnormal vascular morphology", - "organism subdivision", - "embryonic cardiovascular system", - "metapodium bone 1", - "paralysed cranial nerve", - "Abnormal cranial nerve morphology", - "Abnormality of the face", - "Abnormality of the cardiovascular system", - "Abnormality of the seventh cranial nerve", - "Cranial nerve paralysis", - "absent anatomical entity in the independent continuant", - "Muscle weakness", - "Abnormal upper limb bone morphology", - "Abnormal peripheral nervous system morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "skeletal muscle organ, vertebrate", - "cranial or facial muscle", - "multi cell part structure", - "Aplasia/Hypoplasia involving the metacarpal bones", - "Abnormality of facial soft tissue", - "Abnormal nervous system physiology", - "main body axis", - "gustatory system", - "phenotype", - "nerve of head region", - "Abnormal skeletal muscle morphology", - "abnormal nerve", - "circulatory organ", - "cranial nerve", - "abnormal phalanx morphology", - "multi-tissue structure", - "abnormal peripheral nervous system morphology", - "craniocervical region musculature", - "axial musculature", - "manual digit digitopodial skeleton", - "craniocervical muscle", - "decreased anatomical entity strength", - "abnormal muscle organ morphology", - "neuron projection bundle", - "Abnormal cranial nerve physiology", - "cranial muscle", - "facial muscle", - "abnormal digit morphology", - "Abnormal 1st metacarpal morphology", - "Partial absence of thumb", - "Aplasia of the 1st metacarpal", - "abnormal anatomical entity morphology in the manus", - "proximal phalanx", - "Aplasia/Hypoplasia of the 1st metacarpal", - "absent metacarpal bone in the metacarpus region", + "decreased length of anatomical entity", + "decreased length of organism subdivision", + "paired limb/fin skeleton", + "limb phenotype", + "organ system subdivision", + "orbital region phenotype", + "appendage phenotype", + "manual digit 1 morphology phenotype", + "endochondral element phenotype", + "phenotypic effect", + "size of anatomical entity phenotype", + "regulation of gene expression", + "autopod region morphology phenotype", + "subdivision of head", + "decreased length of manual digit 1 or 5", + "multi-limb segment region phenotype", + "head", + "Abnormality of limb bone", + "pectoral complex", + "size of eyeball of camera-type eye phenotype", + "bone element phenotype", + "biological_process phenotype", + "decreased size of the material anatomical entity", + "multicellular anatomical structure", + "Abnormal skeletal morphology", + "forelimb", "decreased size of the anatomical entity in the pectoral complex", - "aplastic phalanx of manus", - "absent carpal bone in the limb", + "hematopoietic system phenotype", + "appendicular skeletal system", + "eye", + "paired limb/fin segment", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased anatomical structure development", + "digit", + "limb endochondral element phenotype", + "Hyperpigmentation of the skin", + "skeleton of pectoral complex", + "integument", + "decreased length of digit", + "aplasia or hypoplasia of anatomical entity", + "anatomical entity length phenotype", + "regulation of macromolecule metabolic process phenotype", + "skeletal element", + "Bone marrow hypocellularity", + "Abnormality of limbs", + "Abnormality of the eye", + "musculoskeletal system", + "autopodial extension", + "multicellular anatomical structure phenotype", + "anatomical entity phenotype", + "appendage", + "digit plus metapodial segment", + "decreased size of the anatomical structure", + "Localized skin lesion", + "Abnormal hand morphology", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased qualitatively developmental process", + "regulation of biological process phenotype", + "entity", + "subdivision of skeletal system", "occurrent", - "metacarpal bone", - "manual digit 1 metacarpus endochondral element", - "manual digit 1 phalanx endochondral element", - "radius bone", - "Abnormality of the hand", - "abnormal facial nerve", - "manus bone", - "metacarpal bone of digit 1", - "skeleton of manual acropodium", - "metapodium bone", - "digitopodium bone", - "vasculature of organ", - "phalanx", - "aplasia or hypoplasia of metacarpal bone of digit 1", - "Abnormal metacarpal morphology", - "Abnormality of thumb phalanx", - "abnormal face", - "Aplasia of metacarpal bones", - "skeleton of digitopodium", - "aplasia or hypoplasia of phalanx of manus", - "manual digit metacarpus endochondral element", - "metapodial skeleton", + "organ", + "appendicular skeleton morphology phenotype", + "decreased size of the organ", + "skeletal element phenotype", + "endochondral bone phenotype", + "Postnatal growth retardation", + "skeletal system phenotype", + "anatomical structure phenotype", + "bone of free limb or fin phenotype", + "decreased length of manual digit", + "limb morphology phenotype", + "organ phenotype", + "manual digit phenotype", + "pigmentation phenotype", + "Hypermelanotic macule", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the upper limbs", + "digit phenotype", + "appendage girdle complex", + "regulation of gene expression phenotype", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "hemolymphoid system", + "immune system", + "system", + "bone marrow cell", + "Abnormality of the upper limb", + "limb", + "cell", + "non-connected functional system", + "skeletal system morphology phenotype", + "cell phenotype", + "Abnormal cellular phenotype", + "Abnormality of the immune system", + "negative regulation of macromolecule metabolic process", + "Abnormal bone marrow cell morphology", + "Abnormality of blood and blood-forming tissues", + "skeleton", + "immune system phenotype", + "embryo development", + "embryo development rate phenotype", + "Short thumb", + "Intrauterine growth retardation", + "negative regulation of gene expression phenotype", + "segment of autopod", + "multicellular organism development", + "regulation of cellular process phenotype", + "anatomical structure development", + "biological_process rate phenotype", + "decreased qualitatively multicellular organism development", + "decreased multicellular organismal process", + "developmental process", + "anatomical structure development phenotype", + "negative regulation of biosynthetic process", + "decreased qualitatively multicellular organismal process", + "decreased embryo development", + "increased pigmentation", + "increased biological_process in skin of body", + "Cafe-au-lait spot", + "Microphthalmia", + "Multiple cafe-au-lait spots", + "decreased size of the sense organ", + "skin of body morphology phenotype", ], - "has_phenotype_count": 11, + "has_phenotype_count": 8, "highlight": None, "score": None, }, { - "id": "MONDO:0054748", + "id": "MONDO:0012186", "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group S", + "name": "Fanconi anemia complementation group I", "full_name": None, "deprecated": None, - "description": None, - "xref": ["GARD:16264", "OMIM:617883"], + "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.", + "xref": [ + "DOID:0111091", + "GARD:15448", + "MEDGEN:323016", + "MESH:C563802", + "NCIT:C129026", + "OMIM:609053", + "UMLS:C1836861", + ], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCS", - "Fanconi anemia, complementation GROUP S", - "Fanconi anemia, complementation group S", + "FANCI", + "Fanconi Anemia, complementation Group 1", + "Fanconi Anemia, complementation group type 1", + "Fanconi anaemia complementation group type I", + "Fanconi anemia complementation group I", + "Fanconi anemia complementation group type I", + "Fanconi anemia, complementation group I", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0100615", - "HP:0000430", - "HP:0000750", - "HP:0001249", + "HP:0001875", + "HP:0002984", + "HP:0002247", + "HP:0000543", + "HP:0001655", + "HP:0000325", + "HP:0000545", + "HP:0003974", + "HP:0001873", + "HP:0009778", + "HP:0001631", + "HP:0001511", + "HP:0000405", + "HP:0000470", + "HP:0009777", + "HP:0000483", + "HP:0000821", + "HP:0002949", + "HP:0030048", "HP:0000252", - "HP:0000582", - "HP:0000316", - "HP:0000581", - "HP:0000527", + "HP:0000413", + "HP:0004325", + "HP:0034323", "HP:0000568", - "HP:0000689", - "HP:0000426", - "HP:0000294", + "HP:0002308", + "HP:0000609", "HP:0001263", - "HP:0003002", - "HP:0025318", - "HP:0000215", - "HP:0030084", + "HP:0003221", + "HP:0000076", + "HP:0001643", + "HP:0005528", + "HP:0030680", + "HP:0000957", "HP:0001903", - "HP:0001508", - "HP:0008070", - "HP:0000280", - "HP:0001251", + "HP:0001629", + "HP:0010034", + "HP:0012210", + "HP:0012506", + "HP:0000085", + "HP:0001274", "HP:0004322", - "HP:0000463", - "HP:0000189", - "HP:0001572", - "HP:0000286", - "HP:0009623", + "HP:0000089", + "HP:0000365", + "HP:0001331", + "HP:0005528", ], "has_phenotype_label": [ - "Chromosome breakage", - "Ovarian neoplasm", - "Underdeveloped nasal alae", - "Delayed speech and language development", - "Intellectual disability", + "Neutropenia", + "Hypoplasia of the radius", + "Duodenal atresia", + "Optic disc pallor", + "Patent foramen ovale", + "Triangular face", + "Myopia", + "Absent radius", + "Thrombocytopenia", + "Short thumb", + "Atrial septal defect", + "Intrauterine growth retardation", + "Conductive hearing impairment", + "Short neck", + "Absent thumb", + "Astigmatism", + "Hypothyroidism", + "Fused cervical vertebrae", + "Colpocephaly", "Microcephaly", - "Upslanted palpebral fissure", - "Hypertelorism", - "Blepharophimosis", - "Long eyelashes", + "Atresia of the external auditory canal", + "Decreased body weight", + "Reduced circulating growth hormone concentration", "Microphthalmia", - "Dental malocclusion", - "Prominent nasal bridge", - "Low anterior hairline", + "Chiari malformation", + "Optic nerve hypoplasia", "Global developmental delay", - "Breast carcinoma", - "Ovarian carcinoma", - "Thick upper lip vermilion", - "Clinodactyly", + "Chromosomal breakage induced by crosslinking agents", + "Vesicoureteral reflux", + "Patent ductus arteriosus", + "Bone marrow hypocellularity", + "Abnormal cardiovascular system morphology", + "Cafe-au-lait spot", "Anemia", - "Failure to thrive", - "Sparse hair", - "Coarse facial features", - "Ataxia", + "Ventricular septal defect", + "Short 1st metacarpal", + "Abnormal renal morphology", + "Small pituitary gland", + "Horseshoe kidney", + "Agenesis of corpus callosum", "Short stature", - "Anteverted nares", - "Narrow palate", - "Macrodontia", - "Epicanthus", - "Proximal placement of thumb", + "Renal hypoplasia", + "Hearing impairment", + "Absent septum pellucidum", + "Bone marrow hypocellularity", ], "has_phenotype_closure": [ - "UBERON:0008785", - "UBERON:0006048", - "UBERON:0019231", - "UPHENO:0084448", - "UBERON:0001460", - "UPHENO:0084834", - "HP:0009484", - 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"UPHENO:0084829", - "UPHENO:0002905", - "UPHENO:0002708", - "HP:0040068", - "HP:0001263", - "HP:0030084", - "UBERON:0003566", - "UBERON:0010712", - "UBERON:0002091", - "UBERON:0002529", - "GO:0003008", - "UBERON:0010538", - "UBERON:0011249", - "UPHENO:0084763", - "HP:0000309", - "UBERON:0004375", - "UPHENO:0087006", - "UBERON:0004120", - "UBERON:0007827", - "UBERON:0002470", - "HP:0012130", - "CL:0000232", - "UBERON:0004708", - "UPHENO:0085068", - "HP:0001877", - "UPHENO:0085118", - "UBERON:0004710", - "UPHENO:0088162", - "HP:0001871", - "UPHENO:0054299", - "UPHENO:0005433", - "UBERON:0019221", - "UPHENO:0053208", - "HP:0001507", - "UPHENO:0002828", - "HP:0001508", - "GO:0040007", - "HP:0000215", - "UPHENO:0031839", - "HP:0004325", + "HP:0000076", + "UBERON:0009856", + "UBERON:0000477", + "UPHENO:0002377", ], "has_phenotype_closure_label": [ - "abnormal anatomical entity morphology in the manus", - "segment of manus", - "Proximal placement of thumb", - "digit 1 or 5", - "manual digit", - "manual digit 1 plus metapodial segment", - "deviation of manual digit", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 1 morphology", - "multi-limb segment region", - "pectoral complex", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal arm", - "abnormal manus morphology", - "upper limb segment", - "abnormal manus", - "skin of eyelid", - "skin of head", - "head or neck skin", - "abnormal skin of face morphology", - "upper eyelid", - "epicanthal fold", - "zone of skin", - "calcareous tooth", - "Abnormality of dental morphology", - "increased size of the calcareous tooth", - "Macrodontia", - "tooth-like structure", - "decreased width of the secondary palate", - "abnormal secondary palate morphology", - "Abnormal palate morphology", - "abnormal roof of mouth morphology", - "external naris", - "abnormal external naris", - "Anteverted nares", - "Abnormal nostril morphology", + "number of anatomical enitites of type tissue phenotype", + "absent tissue in the multicellular organism", + "absent ectoderm-derived structure in the brain ventricle/choroid plexus", + "Abnormal septum pellucidum morphology", + "absent septum pellucidum", + "lamina", + "gray matter", + "absent multicellular anatomical structure in the brain ventricle/choroid plexus", + "absent lamina", + "lamina phenotype", + "absent ectoderm-derived structure in the brain ventricle", + "absent tissue", + "septum pellucidum phenotype", + "absent material anatomical entity in the brain ventricle", + "absent anatomical entity in the brain ventricle", + "gray matter of telencephalon", + "Renal hypoplasia", + "Renal hypoplasia/aplasia", + "kidney hypoplasia", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "delayed biological_process", - "delayed growth", - "abnormal size of multicellular organism", - "vestibular behavior", - "somatic sensation related behavior", - "sensation behavior", - "abnormally decreased rate of behavior process", - "cognitive behavior", - "decreased motor coordination", - "perception behavior by means", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "skin of face", - "regional part of brain", - "Eumetazoa", - "postcranial axial skeleton", - "cellular organisms", - "thoracic segment of trunk", - "abnormal digit", "decreased size of the multicellular organism", - "Abnormality of skull size", - "skeleton", - "secondary palate", - "organism", - "Abnormal hand morphology", - "Metazoa", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "abnormal forehead", - "anatomical collection", - "All", - "Abnormal nervous system morphology", - "abnormal limb bone", - "abnormal nervous system morphology", - "abnormal central nervous system morphology", - "multi-tissue structure", - "root", - "appendage", - "Abnormal facial shape", - "cognition", - "decreased size of the anatomical entity", - "multicellular organismal process", - "obsolete cellular aromatic compound metabolic process", - "anatomical row", - "Neurodevelopmental abnormality", - "Gonadal neoplasm", - "abnormality of anatomical entity physiology", - "Abnormal nervous system physiology", - "Aplasia/Hypoplasia affecting the eye", - "Deviation of the thumb", - "abnormal dentition", + "size of multicellular organism phenotype", + "absent brain commissure", + "number of anatomical enitites of type axon tract phenotype", + "absent corpus callosum", + "Thin corpus callosum", + "cerebral subcortex", + "cerebral hemisphere morphology phenotype", + "number of anatomical enitites of type nervous system commissure phenotype", + "absent nervous system commissure", + "corpus callosum morphology phenotype", + "number of anatomical enitites of type intercerebral commissure phenotype", + "Aplasia/Hypoplasia of the corpus callosum", + "absent ectoderm-derived structure", + "number of anatomical enitites of type tract of brain phenotype", + "white matter", + "number of anatomical enitites of type commissure of telencephalon phenotype", + "tract of brain phenotype", + "absent anatomical entity in the nervous system", + "tract of brain", + "nervous system commissure", + "Abnormal cerebral white matter morphology", + "absent material anatomical entity in the brain", + "axon tract phenotype", + "commissure of telencephalon phenotype", + "absent neuron projection bundle", + "absent central nervous system cell part cluster", + "absent axon tract", + "absent commissure of telencephalon", + "Agenesis of corpus callosum", + "absent anatomical entity in the brain", + "cerebral hemisphere white matter", + "absent dorsal telencephalic commissure", + "brain commissure phenotype", + "Aplasia/Hypoplasia of the cerebral white matter", + "absent multi cell part structure", + "number of anatomical enitites of type dorsal telencephalic commissure phenotype", + "absent anatomical entity in the central nervous system", + "white matter of forebrain", + "Abnormal corpus callosum morphology", + "number of anatomical enitites of type central nervous system cell part cluster phenotype", + "commissure of telencephalon", + "Abnormal cerebral subcortex morphology", + "number of anatomical enitites of type multi cell part structure phenotype", + "shape kidney", + "3-D shape anatomical entity", + "Abnormal localization of kidney", + "U-shaped anatomical entity", + "Horseshoe kidney", + "pituitary gland", + "Abnormality of the hypothalamus-pituitary axis", + "reproductive gland morphology phenotype", + "reproductive structure", + "gland of diencephalon", + "reproductive system", + "hypothalamus-pituitary axis", + "decreased size of the gland", + "reproductive system phenotype", + "decreased size of the reproductive gland", + "reproductive organ", + "Abnormality of the diencephalon", + "reproductive organ phenotype", + "decreased size of the reproductive structure", + "Abnormal endocrine morphology", + "reproductive structure phenotype", + "size of pituitary gland phenotype", + "diencephalon morphology phenotype", + "reproductive system morphology phenotype", + "Small pituitary gland", + "Abnormality of the genital system", + "decreased size of the gland of diencephalon", + "Abnormal pituitary gland morphology", + "endocrine system morphology phenotype", + "reproductive gland phenotype", + "decreased size of the pituitary gland", + "kidney", + "kidney morphology phenotype", + "abdomen element phenotype", + "abdomen", + "kidney phenotype", + "axon tract", + "decreased size of the autopod endochondral element", + "decreased length of manual digit bone", + "manual digit 1 metacarpus endochondral element phenotype", + "decreased size of the phalanx endochondral element", + "manual digit bone phenotype", + "manual digit phalanx endochondral element phenotype", + "cell layer phenotype", + "Short phalanx of the thumb", + "Abnormal finger phalanx morphology", + "Abnormal metacarpal morphology", + "phalanx morphology phenotype", + "metacarpal bone of digit 1 phenotype", + "decreased length of limb long bone", + "decreased size of the autopod bone", + "manus bone phenotype", + "manual digit 1 phalanx endochondral element phenotype", + "metapodium bone phenotype", + "decreased size of the forelimb long bone", + "metapodium bone 1", + "manual digitopodium bone", + "manual digit 1 phalanx", + "metapodium region", + "Abnormal 1st metacarpal morphology", + "phalanx phenotype", + "decreased size of the digitopodium bone", + "decreased length of manual digitopodium bone", + "autopod endochondral element", + "metacarpus skeleton", + "tissue phenotype", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "aplasia or hypoplasia of manual digit 1 phalanx", + "decreased length of forelimb long bone", + "Abnormality of thumb phalanx", + "phalanx endochondral element", + "autopod bone", + "manual digit metacarpus endochondral element", + "manual digit 1 digitopodial skeleton", + "decreased length of phalanx", + "Aplasia/Hypoplasia involving the metacarpal bones", + "digitopodium bone phenotype", + "phalanx", + "digitopodium bone", + "manus bone", + "metacarpal bone", + "manual digit 1 metacarpus endochondral element", + "decreased length of metacarpal bone", + "manual digit 1 phalanx phenotype", + "phalanx endochondral element phenotype", + "acropodial skeleton", + "metapodium bone 1 phenotype", + "skeleton of digitopodium", + "individual digit of digitopodial skeleton", + "decreased length of manus bone", + "aplasia or hypoplasia of metacarpal bone", + "incomplete closing of the interventricular septum", + "interventricular septum", + "interventricular septum morphology phenotype", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "Abnormal cardiac ventricle morphology", + "Anemia", + "Abnormal erythroid lineage cell morphology", + "erythrocyte morphology phenotype", + "erythroid lineage cell", + "Abnormal skin morphology", + "increased biological_process", + "Irregular hyperpigmentation", + "pigmentation", + "Abnormality of skin pigmentation", + "Hypermelanotic macule", + "Hyperpigmentation of the skin", + "skin of body morphology phenotype", + "pigmentation phenotype", + "Cafe-au-lait spot", + "increased biological_process in skin of body", + "integumental system", + "cerebral hemisphere gray matter", + "skin of body", + "Bone marrow hypocellularity", + "artery morphology phenotype", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "Abnormality of multiple cell lineages in the bone marrow", + "blood vessel phenotype", + "coronary vessel morphology phenotype", + "incomplete closing of the vessel", + "incomplete closing of the heart blood vessel", + "vascular system morphology phenotype", + "incomplete closing of the systemic artery", + "incomplete closing of the ductus arteriosus", + "embryonic cardiovascular system", + "anatomical cluster phenotype", + "great vessel of heart", + "trunk blood vessel phenotype", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "arterial system", + "blood vessel", + "vessel phenotype", + "arterial blood vessel phenotype", + "heart vasculature", + "blood vasculature", + "incomplete closing of the artery", + "decreased size of the phalanx", + "incomplete closing of the thoracic segment blood vessel", + "thoracic segment blood vessel", + "conceptus", + "vasculature", + "coronary vessel", + "outflow tract", + "Patent ductus arteriosus", + "multicellular anatomical structure morphology in the heart phenotype", + "vasculature phenotype", + "decreased length of metapodium bone 1", + "ureter", + "upper urinary tract", + "genitourinary system phenotype", + "upper urinary tract phenotype", + "mesoderm-derived structure physiology phenotype", + "renal system", + "lower urinary tract", + "absent mesoderm-derived structure in the forelimb", + "appendage girdle complex", + "subdivision of head", + "absent bone of appendage girdle complex", + "diencephalon phenotype", + "Abnormal platelet morphology", + "absent organ", + "absent anatomical structure in the brain ventricle/choroid plexus", + "decreased size of the organ", + "absent endochondral element in the forelimb", + "absent forelimb bone in the limb", + "Vertebral fusion", + "absent skeletal element in the limb", + "Abnormality of the thyroid gland", + "absent anatomical entity in the forelimb", + "absent endochondral bone in the limb", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "absent mesoderm-derived structure", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "absent anatomical entity in the brain ventricle/choroid plexus", + "absent anatomical structure in the forelimb", + "blood vessel morphology phenotype", + "absent endochondral element in the limb", + "pituitary gland phenotype", + "systemic arterial system", "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "Abnormal cartilage morphology", - "abnormal behavior", - "internal genitalia", - "cellular metabolic process", - "simple eye", - "behavior process", - "abnormal behavior process", - "abnormal nose", - "abnormal size of anatomical entity", - "sensory system", - "gonad", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "Long eyelashes", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia involving the nose", - "skeletal element", - "cartilage tissue", - "nose", - "Decreased head circumference", - "head connective tissue", - "nasal cartilage", - "Abnormality of connective tissue", - "skeletal system", - "Abnormal upper lip morphology", - "Abnormality of mental function", - "ala of nose", - "manual digitopodium region", - "Abnormality of coordination", - "Abnormality of blood and blood-forming tissues", - "Abnormal morphology of the nasal alae", - "Abnormal myeloid cell morphology", - "abnormal craniocervical region", - "abnormal mouth", - "abnormal midface morphology", + "Aplasia involving bones of the upper limbs", + "decreased length of manual digit phalanx endochondral element", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "organ physiology phenotype", + "absent material anatomical entity", + "cerebellum morphology phenotype", + "cerebral hemisphere white matter morphology phenotype", + "Chiari malformation", + "cardiac septum morphology phenotype", + "subdivision of organism along appendicular axis", + "agenesis of anatomical entity", + "decreased length of endochondral element", + "absent limb bone in the limb", + "Abnormality of the integument", + "cardiac atrium", + "absent forelimb bone in the forelimb", + "lateral structure physiology phenotype", + "decreased size of the structure with developmental contribution from neural crest", + "material anatomical entity physiology phenotype", + "absent anatomical structure in the skeletal system", + "duodenum", + "segment of autopod", + "lateral structure phenotype", + "decreased size of the manus bone", + "absent limb bone in the forelimb", + "absent forelimb bone", + "neural crest-derived structure, asymmetrically curved phenotype", + "reproductive gland", + "erythrocyte", + "anatomical entity physiology phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "regulation of biological process phenotype", + "structure with developmental contribution from neural crest physiology phenotype", + "absent cell layer", + "corpus callosum", + "subdivision of skeletal system", + "decreased length of manual digit 1 phalanx", + "absent arm bone in the forelimb", + "cardiac atrium morphology phenotype", + "circulatory organ", + "forelimb long bone phenotype", + "cardiac septum phenotype", + "interatrial septum", + "number of anatomical enitites of type corpus callosum phenotype", + "subdivision of head phenotype", + "opening of the anatomical entity", + "cell phenotype", + "incomplete closing of the anatomical structure", + "Congenital malformation of the great arteries", + "incomplete closing of the material anatomical entity", + "integument", + "subdivision of skeletal system phenotype", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "incomplete closing of the interatrial septum", + "Abnormality of body height", + "decreased size of the mesoderm-derived structure", + "organism substance", + "absent multicellular anatomical structure in the brain ventricle", + "gray matter of forebrain", + "heart plus pericardium", + "septum phenotype", + "incomplete closing of the anatomical entity", + "absent long bone in the forelimb", + "manual digit 1 morphology phenotype", + "septum of telencephalon", + "cardiovascular system", + "septum", "paired limb/fin segment", - "surface structure", - "abnormal size of eyeball of camera-type eye", - "palpebral fissure", - "non-connected functional system", - "Abnormal nasal cartilage morphology", - "set of upper jaw teeth", - "eyelash", - "Abnormality of the nose", - "abnormal face", - "abnormal snout morphology", - "chest", - "abnormal head morphology", - "Abnormal oral cavity morphology", + "Colpocephaly", + "anatomical entity morphology in the heart phenotype", + "hematopoietic system phenotype", + "cranial nerve II morphology phenotype", "Abnormality of head or neck", - "abnormal reproductive system", - "olfactory organ", - "decreased length of anatomical entity in independent continuant", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "zone of organ", - "tissue", - "abnormal limb bone morphology", - "response to stimulus", - "Abnormality of the eye", - "mouth", - "abnormal external nose morphology", - "entire sense organ system", - "continuant", - "decreased growth", - "decreased size of the anatomical entity in the independent continuant", - "abnormal nasal cartilage morphology", - "nasal cartilage hypoplasia", - "structure with developmental contribution from neural crest", - "Language impairment", - "abnormal cartilage element morphology", - "anatomical line", - "anatomical entity hypoplasia in face", - "organ system subdivision", - "decreased length of palpebral fissure", - "erythrocyte", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "head", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "absent forelimb long bone in the forelimb", + "absent anatomical structure in the multicellular organism", + "craniofacial/craniocervical phenotype", + "serotonin secreting cell", + "eyeball of camera-type eye", + "alimentary part of gastrointestinal system morphology phenotype", + "decreased length of forelimb zeugopod bone", + "posterior segment of eyeball", + "All", "central nervous system", - "abnormal connective tissue", "Abnormality of limb bone", - "Deviation of finger", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "Microphthalmia", - "protein-containing material entity", - "abnormal cell morphology", - "connective tissue", - "abnormal skeletal system morphology", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "main body axis", - "regulation of biosynthetic process", - "hair of head", - "nucleic acid metabolic process", - "abnormal brain morphology", - "abnormal cartilage tissue morphology", + "abdomen element", + "homeostatic process phenotype", + "regional part of brain", + "Abnormal fundus morphology", + "Abnormal atrial septum morphology", + "decreased length of limb endochondral element", + "metencephalon morphology phenotype", + "cervical vertebra", + "anterior segment of eyeball morphology phenotype", + "Abnormal anterior eye segment morphology", + "limb phenotype", + "cardiovascular system morphology phenotype", + "fused anatomical entity and bony vertebral centrum", + "axial skeletal system", + "subdivision of vertebral column", + "absent manual digit", + "decreased length of manual digit 1 phalanx endochondral element", + "forelimb zeugopod bone", + "head phenotype", + "nervous system morphology phenotype", + "ectoderm-derived structure physiology phenotype", + "manual digit 1 or 5", + "developmental process", + "negative regulation of metabolic process", + "Optic disc pallor", + "head morphology phenotype", + "forelimb skeleton", + "hormone secretion", + "Triangular face", + "incomplete closing of the blood vessel", + "myeloid cell", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "multicellular anatomical structure, asymmetrically curved phenotype", + "decreased size of the skeletal element", + "vertebral element", + "camera-type eye morphology phenotype", + "sense organ physiology phenotype", + "Atrial septal defect", + "tunica fibrosa of eyeball", + "Morphological central nervous system abnormality", + "organ component layer", + "body proper", + "Abnormal joint morphology", + "Abnormal optic disc morphology", + "brain ventricle", + "regional part of nervous system phenotype", + "systemic artery phenotype", + "Finger aplasia", + "abdominal segment element phenotype", + "visual system", + "mesoderm-derived structure morphology in the heart phenotype", + "number of anatomical enitites of type endochondral bone phenotype", + "Abnormality of the nervous system", + "head", + "decreased size of the endocrine gland", + "Metazoa", + "Abnormal hand morphology", + "cranial neuron projection bundle", + "negative regulation of macromolecule biosynthetic process", + "multi-tissue structure", + "limb long bone phenotype", + "bodily fluid", + "simple eye", + "face morphology phenotype", + "duodenum phenotype", + "Abnormal eye morphology", + "absent tract of brain", + "subdivision of tube phenotype", + "closing of the multicellular anatomical structure", + "organ system subdivision", + "orbital region", + "Abnormal intestine morphology", + "optic disc", + "aplasia or hypoplasia of phalanx of manus", + "multicellular anatomical structure atresia", + "excretory system", + "Abnormal digestive system morphology", + "skull phenotype", + "decreased system process", + "endoderm-derived structure atresia", + "absent bone of appendage girdle complex in the forelimb", + "pectoral appendage", + "absent skeletal element in the forelimb", + "regulation of gene expression", + "digestive tract", + "anatomical system atresia", + "Abnormal ureter physiology", + "anatomical structure physiology phenotype", + "trunk", + "retina", + "sac phenotype", "process", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "eyelid", - "eye", - "scalp", - "musculoskeletal system", - "abnormal cellular metabolic process", - "Coarse facial features", - "material anatomical entity", - "abnormality of nervous system physiology", - "internal female genitalia", - "Abnormal cellular physiology", + "Gastrointestinal atresia", + "tube", + "subdivision of digestive tract phenotype", + "limb bone", + "Fused cervical vertebrae", "Abnormality of the head", - "organic substance metabolic process", - "chromatin organization", - "Delayed speech and language development", - "Abnormality of limbs", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "Growth delay", - "abnormal biological_process", - "Prominent nasal bridge", - "protein-DNA complex organization", - "anatomical structure", + "heart", + "anatomical conduit", + "Aplasia/Hypoplasia of the 1st metacarpal", + "anatomical structure morphology in the heart phenotype", + "Intestinal atresia", + "arm bone", + "Abnormal ventricular septum morphology", + "closing of the material anatomical entity", + "circulatory system", + "Abnormal small intestine morphology", + "organ part phenotype", + "decreased length of autopodial extension", + "closing of the anatomical entity", + "interatrial septum morphology phenotype", + "formed multi-tissue structure", + "alimentary part of gastrointestinal system phenotype", + "subdivision of organism along main body axis", + "Reduced circulating growth hormone concentration", + "small intestine morphology phenotype", + "multicellular organismal process phenotype", + "ureter physiology phenotype", + "closing of the anatomical system", + "decreased size of the arm bone", + "metacarpus region", + "formed ectoderm-derived structure", + "Abnormality of the digestive system", + "intercerebral commissure phenotype", + "Abnormality of the upper limb", + "alimentary part of gastrointestinal system", + "Atresia of the external auditory canal", + "duodenum morphology phenotype", + "pelvic region of trunk", + "alimentary part of gastrointestinal system atresia", + "thoracic segment organ", + "absent forelimb long bone", + "incomplete closing of the coronary vessel", + "nervous system process phenotype", + "Aplasia/hypoplasia involving the skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "absent digit", + "absent arm bone", + "decreased length of forelimb bone", + "long bone phenotype", + "Aplasia/hypoplasia involving forearm bones", "Eukaryota", "negative regulation of cellular metabolic process", - "abnormal ala of nose morphology", - "Blepharophimosis", - "Intellectual disability", + "limb morphology phenotype", + "fused anatomical entity and vertebra", + "biological regulation phenotype", + "central nervous system cell part cluster", + "forebrain morphology phenotype", + "decreased length of forelimb endochondral element", + "absent anatomical structure", + "lateral structure", + "absent limb long bone in the forelimb", + "intestine morphology phenotype", + "arm", + "number of leukocyte phenotype", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "cellular organisms", + "external acoustic meatus phenotype", + "Abnormal neutrophil count", + "erythroid lineage cell morphology phenotype", + "limb segment phenotype", + "number of cell phenotype", + "compound organ physiology phenotype", + "decreased size of the multicellular anatomical structure", + "organism", + "irregular bone", + "decreased length of bone of pectoral complex", + "multicellular organism height phenotype", + "forelimb long bone", + "Abnormal posterior eye segment morphology", + "forelimb morphology phenotype", + "Abnormality of the middle ear", + "limb segment", + "decreased size of the anatomical structure in the pectoral complex", + "manual digitopodium region", + "decreased length of digit", + "hematopoietic cell", + "eyeball of camera-type eye phenotype", + "decreased length of digit 1 or 5", + "regulation of biological quality phenotype", + "incomplete closing of the cardiac septum", + "Astigmatism", + "organ subunit", + "anatomical structure", + "absent material anatomical entity in the brain ventricle/choroid plexus", + "ectoderm-derived structure, asymmetrically curved phenotype", + "radius bone hypoplasia", + "systemic artery morphology phenotype", + "decreased biological_process", + "anatomical entity morphology phenotype", + "decreased length of endochondral bone", + "digestive system", + "decreased length of long bone", + "curved anatomical entity", + "Abnormality of the gastrointestinal tract", + "programmed DNA elimination", + "arm bone phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "bone of free limb or fin phenotype", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "vertebra", + "paired limb/fin phenotype", + "tissue", + "forelimb zeugopod bone morphology phenotype", + "concave 3-D shape anatomical entity", + "absent bone of free limb or fin in the forelimb", + "continuant", + "multicellular anatomical structure phenotype", + "decreased number of granulocyte", + "neutrophil", + "Abnormal optic nerve morphology", + "decreased size of the forelimb endochondral element", + "independent continuant", + "Abnormal granulocyte morphology", + "subdivision of tube atresia", + "absent limb long bone", + "digestive system element phenotype", + "anatomical entity atresia", + "telencephalic ventricle", + "Abnormal retinal morphology", + "decreased length of material anatomical entity", + "sensory perception of mechanical stimulus", + "digestive system morphology phenotype", + "structure with developmental contribution from neural crest, asymmetrically curved phenotype", + "absent bone of pectoral complex in the limb", + "decreased number of myeloid cell", + "trunk region element", + "decreased size of the manual digit", + "endoderm-derived structure", + "Abnormal morphology of the great vessels", + "pectoral complex", + "Short metacarpal", "Abnormality of globe size", - "abnormal face morphology", - "pectoral appendage", - "Abnormality of skin adnexa morphology", - "regulation of gene expression", - "obsolete cellular nitrogen compound metabolic process", - "primary subdivision of skull", - "abnormally protruding anatomical entity", - "quality", - "Abnormal skull morphology", - "regulation of cellular metabolic process", - "Abnormality of limb bone morphology", - "abnormal forebrain morphology", - "Abnormal external nose morphology", + "decreased number of hematopoietic cell", + "bone element", + "leukocyte", + "material entity", + "long bone", + "decreased sensory perception of mechanical stimulus", + "negative regulation of biosynthetic process", + "decreased multicellular organism development", + "hemolymphoid system", + "multi-limb segment region phenotype", + "absent bone element", + "long bone morphology phenotype", + "incomplete closing of the mesoderm-derived structure", + "decreased size of the forelimb zeugopod bone", + "cellular process", + "musculature phenotype", + "sense organ", + "decreased length of phalanx endochondral element", + "absent material anatomical entity in the forelimb", + "Neutropenia", + "decreased height of the anatomical entity", + "absent multicellular anatomical structure in the limb", + "Abnormality of the eye", + "hindbrain", + "absent bone of appendage girdle complex in the limb", + "vertebra phenotype", + "renal system morphology phenotype", + "cardiac ventricle morphology phenotype", + "Abnormal granulocyte count", + "organ phenotype", + "Forearm undergrowth", + "Short 1st metacarpal", + "decreased size of the anatomical entity", + "sensory perception of sound", + "Abnormal forearm bone morphology", + "bone of free limb or fin", + "main body axis", + "myeloid leukocyte phenotype", + "increased qualitatively biological_process", "forebrain", - "Abnormal nasal morphology", - "negative regulation of macromolecule biosynthetic process", - "lateral structure", - "regulation of biological process", - "Abnormality of speech or vocalization", - "abnormal DNA metabolic process", - "decreased length of anatomical entity", - "nasal bridge", - "abnormal nervous system", - "Neoplasm", - "Ovarian neoplasm", - "Underdeveloped nasal alae", - "abnormal cellular process", - "Abnormal communication", - "anatomical entity hypoplasia", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "outer epithelium", - "cellular component organization", - "system process", + "absent radius endochondral element in the forelimb", + "radius bone morphology phenotype", + "craniocervical region morphology phenotype", + "axon tract morphology phenotype", + "vascular system", + "aplasia or hypoplasia of skeleton", + "ocular fundus", + "neutrophil phenotype", + "organism subdivision", + "integument phenotype", + "vision/eye phenotype", + "Abnormal bone marrow cell morphology", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Phenotypic abnormality", + "myeloid leukocyte", + "limb endochondral element phenotype", + "granulocyte", + "cardiac chamber", + "eye physiology phenotype", + "decreased qualitatively sensory perception of mechanical stimulus", + "immune system morphology phenotype", + "dorsal telencephalic commissure", + "skeletal system phenotype", + "dorsal telencephalic commissure morphology phenotype", + "digit plus metapodial segment", + "blood cell phenotype", + "decreased number of leukocyte", + "transport", + "absent limb bone", + "limb endochondral element", + "phenotype", + "delayed growth", + "Abnormal hindbrain morphology", "Abnormal cell morphology", - "cranial skeletal system", - "increased length of the epicanthal fold", - "behavior", - "skeleton of upper jaw", - "decreased width of the palpebral fissure", + "closing of the ectoderm-derived structure", + "simple eye physiology phenotype", + "subdivision of digestive tract", + "fused skeletal joint and anatomical entity", + "number of anatomical enitites of type lamina phenotype", + "regulation of cellular biosynthetic process phenotype", + "cell layer", + "viscus", + "pelvic region element phenotype", + "Short forearm", + "nitrogen compound transport phenotype", + "bone of dorsum", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "anatomical conduit atresia", + "decreased length of digitopodium bone", + "regulation of cellular metabolic process phenotype", + "decreased number of cell", + "decreased length of anatomical entity", + "bone of pectoral complex", + "endocrine system", + "immune system", + "chorioretinal region", + "structure with developmental contribution from neural crest phenotype", + "material anatomical entity", + "nucleate cell", "Abnormal appendicular skeleton morphology", - "entity", - "subdivision of skeletal system", - "Abnormal hair pattern", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "olfactory system", - "macromolecule metabolic process", - "Neoplasm of the genitourinary tract", - "obsolete nitrogen compound metabolic process", - "abnormal organelle organization", + "thyroid gland", + "Abnormal myeloid leukocyte morphology", + "number of anatomical enitites of type endochondral element phenotype", + "absent multicellular anatomical structure", + "endochondral bone phenotype", + "Abnormality of the ear", + "cardiac septum", + "Cerebellar malformation", + "anucleate cell", + "shape of continuant phenotype", + "tube phenotype", + "Opisthokonta", + "eye", + "compound organ", + "skeleton of pectoral complex", + "specifically dependent continuant", + "decreased length of arm bone", + "thoracic cavity element", + "retina morphology phenotype", + "Thrombocytopenia", + "great vessel of heart morphology phenotype", + "decreased functionality of the anatomical structure", + "anatomical structure mass phenotype", "regulation of macromolecule biosynthetic process", + "anatomical entity", + "decreased qualitatively biological_process", + "ear phenotype", + "Abnormality of refraction", + "number of anatomical enitites of type skeletal element phenotype", + "peptide secretion", + "absent multicellular anatomical structure in the multicellular organism", + "sensory perception of mechanical stimulus phenotype", + "disconnected anatomical group", "multicellular organism", - "hematopoietic system", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "female reproductive system", - "endochondral element", - "metabolic process", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "deviation of anatomical entity towards the middle", - "Abnormality of the palpebral fissures", - "abnormal spatial pattern of anatomical entity", - "abnormal response to stimulus", - "sense organ", - "abnormal skin epidermis morphology", - "Abnormal skeletal morphology", - "abnormally decreased rate of motor coordination", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal craniocervical region morphology", + "skeleton", + "trunk blood vessel", + "absent radius endochondral element", + "Eumetazoa", + "number of hematopoietic cell phenotype", + "face phenotype", + "Abnormality of the bladder", + "closing of the anatomical structure", + "dorsum", + "Abnormal leukocyte count", + "decreased functionality of the endocrine gland", + "Abnormal duodenum morphology", + "cavitated compound organ", + "incomplete closing of the septum", + "motile cell", + "metacarpal bone phenotype", + "skeletal system", + "sensory system", + "cervical vertebra phenotype", + "multicellular anatomical structure, curved phenotype", + "multicellular organism morphology phenotype", + "Abnormal cellular immune system morphology", + "eye phenotype", + "urinary bladder physiology phenotype", + "urinary bladder phenotype", + "absent intercerebral commissure", + "system", + "regulation of gene expression phenotype", + "decreased size of the limb long bone", + "Abnormal cardiac atrium morphology", + "bone marrow", + "fused vertebra and bony vertebral centrum", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "Microcephaly", + "regulation of metabolic process phenotype", + "decreased number of anatomical structure", + "material anatomical entity atresia", + "bone cell", + "skeletal system morphology phenotype", + "fused cervical vertebra and anatomical entity", + "Patent foramen ovale", + "heart morphology phenotype", + "decreased functionality of the structure with developmental contribution from neural crest", + "closing of the subdivision of digestive tract", + "negative regulation of biological process phenotype", + "granulocyte morphology phenotype", + "taxon specific phenotype", + "Abnormal renal morphology", + "radius endochondral element", + "zeugopod", + "anatomical system phenotype", + "regulation of biosynthetic process phenotype", + "skeletal element", + "metapodium bone", + "Abnormality of limbs", + "craniocervical region phenotype", + "cornea morphology phenotype", + "duodenum atresia", + "Localized skin lesion", + "musculature", + "Aplasia/Hypoplasia of the phalanges of the hand", + "decreased number of neutrophil", + "digestive system phenotype", + "number of anatomical enitites of type granulocyte phenotype", "Abnormal cellular phenotype", - "anatomical line between pupils", - "independent continuant", - "abnormal growth", - "cartilage element", - "organic cyclic compound metabolic process", - "reproductive system", - "segment of autopod", - "nucleobase-containing compound metabolic process", - "Abnormal scalp morphology", - "Abnormality of the female genitalia", - "body proper", - "decreased height of the anatomical entity", - "regulation of cellular process", - "manus", - "abnormal eyelid morphology", - "Abnormal digit morphology", - "Abnormality of the face", - "ovary", - "manual digit 1", - "Decreased body weight", - "autopodial extension", - "regulation of metabolic process", - "forehead", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "morphological feature", - "Abnormal nasal bridge morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "occurrent", - "organ", - "Dental malocclusion", - "abnormal anatomical entity", + "multi-limb segment region", + "ventricle of nervous system", + "absent organ in the forelimb", + "decreased size of the bone element", + "decreased length of autopod bone", + "subdivision of digestive tract atresia", + "quality", + "central nervous system cell part cluster phenotype", + "anatomical collection phenotype", + "vessel", + "decreased size of the sense organ", + "anatomical system", + "decreased size of the anatomical entity in the pectoral complex", + "increased pigmentation", + "Abnormal skeletal morphology", + "forelimb", + "decreased number of anatomical entity", + "Abnormal forebrain morphology", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "organ system subdivision phenotype", + "simple eye phenotype", + "growth hormone secretion phenotype", + "gland of diencephalon phenotype", + "anatomical wall", + "decreased length of autopod endochondral element", + "absent bone of free limb or fin", + "bone of appendage girdle complex", + "skin of body phenotype", "ectoderm-derived structure", - "Slanting of the palpebral fissure", - "abnormal female reproductive system", - "abnormal palpebral fissure", - "abnormal skull morphology", - "reproductive organ", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "orifice", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "prominent upper lip", - "abnormal zone of skin morphology", - "abnormal ovary", - "Abnormal morphology of female internal genitalia", - "subdivision of skeleton", + "decreased length of limb bone", + "secretion phenotype", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "formed regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Abnormality of body weight", + "mesoderm-derived structure", + "absent organ in the multicellular organism", + "multicellular organismal process", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormality of the hand", + "absent forelimb endochondral element", + "skeleton phenotype", + "Hypoplasia of the radius", + "decreased size of the digit", + "zeugopodial skeleton", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "forelimb bone", + "absent anatomical structure in the brain ventricle", + "camera-type eye", + "Abnormality of the orbital region", + "decreased length of skeletal element", + "absent multicellular anatomical structure in the brain", + "absent forelimb endochondral element in the forelimb", + "endocrine gland physiology phenotype", + "entire sense organ system", + "absent bone of pectoral complex", + "asymmetrically curved cornea", + "Synostosis of joints", + "Aplasia involving bones of the extremities", + "nervous system phenotype", + "endocrine gland morphology phenotype", + "Macule", + "anatomical collection", + "cranial nerve II", + "regulation of macromolecule metabolic process phenotype", + "Aplasia involving forearm bones", + "skeleton of limb", + "Abnormality of the urinary system", + "closing of the subdivision of tube", + "neck morphology phenotype", + "cardiovascular system phenotype", + "manual digit phalanx endochondral element", + "photoreceptor array", + "Abnormality of the immune system", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Short long bone", + "decreased length of bone of free limb or fin", + "number of anatomical enitites of type brain commissure phenotype", + "forelimb endochondral element", + "limb bone phenotype", + "secretory cell", + "anatomical entity morphology in the skeleton of manus phenotype", + "decreased anatomical structure development", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "decreased size of the bone of pectoral complex", + "formed regional part of nervous system", + "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", + "phalanx of manus phenotype", + "decreased size of the bone of free limb or fin", + "decreased length of anatomical structure", + "absent bone element in the forelimb", + "ocular surface region morphology phenotype", + "white matter of telencephalon", + "decreased size of the limb bone", + "Abnormal leukocyte morphology", + "axial skeleton plus cranial skeleton", + "mesoderm-derived structure phenotype", + "external ear", + "decreased length of bone of appendage girdle complex", + "aplastic forelimb zeugopod bone", + "glandular system", + "subdivision of trunk", + "Abnormal thumb morphology", + "fused anatomical entity and anatomical entity", + "decreased size of the long bone", + "Absent forearm bone", + "decreased size of the material anatomical entity", + "forelimb zeugopod bone hypoplasia", + "Abnormal cerebellum morphology", + "anterior region of body", + "decreased length of manual digit 1", "endochondral bone", - "genitourinary system", - "material entity", - "female reproductive organ", - "negative regulation of biosynthetic process", - "hairline", - "Morphological central nervous system abnormality", - "increased size of the anatomical entity", + "endochondral element phenotype", + "subdivision of skeleton", + "autopod bone phenotype", + "Aplasia/Hypoplasia of the radius", + "decreased size of the autopodial extension", + "manus", + "number of anatomical enitites of type anatomical entity phenotype", + "sensory perception", + "phenotypic effect", + "size of anatomical entity phenotype", + "digestive system element", + "decreased length of multicellular anatomical structure", + "radius bone phenotype", + "decreased length of mesoderm-derived structure", + "formed material anatomical entity", + "Abnormal upper limb bone morphology", + "negative regulation of macromolecule metabolic process", + "cell", + "Abnormality of the curvature of the cornea", "limb", - "disconnected anatomical group", - "abnormal cell", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "face", - "abnormal orbital region", - "Abnormal eyelash morphology", - "axial skeletal system", + "material anatomical entity phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "Abnormal morphology of the radius", + "decreased size of the limb endochondral element", + "acropodium region", + "signal release phenotype", + "anatomical structure atresia", + "organ part atresia", + "upper limb segment phenotype", + "decreased length of bone element", + "multi cell part structure", + "limb long bone morphology phenotype", + "aplasia or hypoplasia of corpus callosum", + "anatomical entity length phenotype", + "decreased qualitatively multicellular organism development", + "digit", + "Abnormality of the kidney", + "orbital region phenotype", + "appendage phenotype", + "organism subdivision phenotype", + "forelimb bone phenotype", + "sense organ phenotype", + "localization phenotype", + "decreased size of the forelimb bone", + "cerebral hemisphere", + "bone of pectoral complex phenotype", + "phalanx of manus", + "number of anatomical enitites of type bone element phenotype", + "decreased size of the bone of appendage girdle complex", + "anatomical entity hypoplasia", + "endochondral element", + "Aplasia/hypoplasia involving bones of the extremities", + "small intestine phenotype", + "appendicular skeletal system", + "forelimb zeugopod morphology phenotype", + "Abnormality of the cervical spine", + "Upper limb undergrowth", + "Abnormal immune system morphology", + "Abnormality of thrombocytes", + "manual digitopodium bone phenotype", + "limb skeleton subdivision", + "absent material anatomical entity in the skeletal system", + "skull", + "Abnormal facial shape", + "root", + "incomplete closing of the trunk blood vessel", + "decreased multicellular organismal process", + "ectoderm-derived structure atresia", + "anatomical entity phenotype", + "decreased length of organ", + "aplasia or hypoplasia of eyeball of camera-type eye", + "appendage", + "bone of pectoral complex morphology phenotype", + "decreased size of the anatomical structure", + "organ", + "anatomical entity mass phenotype", + "Decreased anatomical entity mass", + "entity", + "appendicular skeleton morphology phenotype", + "bone of appendage girdle complex phenotype", + "decreased vibrational conductance of sound to the inner ear", + "leukocyte morphology phenotype", + "skeletal element phenotype", + "fused anatomical entity and skeletal joint", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "absent limb endochondral element", + "bone element phenotype", + "vestibulo-auditory system", + "endoderm-derived structure physiology phenotype", + "material anatomical entity morphology in the heart phenotype", + "absent limb endochondral element in the limb", + "neuron projection bundle", + "absent endochondral bone in the forelimb", + "absent material anatomical entity in the multicellular organism", + "sac", + "formed cerebellum", + "autopod region phenotype", + "absent radius bone in the forelimb", + "aplastic anatomical entity", + "nitrogen compound transport", + "malformed anatomical entity", + "absent forelimb endochondral element in the limb", + "embryo development rate phenotype", + "absent long bone", + "absent material anatomical entity in the limb", + "absent bone element in the limb", + "decreased size of the reproductive organ", + "camera-type eye physiology phenotype", + "Absent radius", + "decreased multicellular anatomical structure mass", + "Abnormal size of pituitary gland", "Growth abnormality", - "upper lip", - "nervous system", - "Narrow palpebral fissure", - "Abnormality of the genital system", - "abnormal phenotype by ontology source", - "Abnormal hair morphology", - "Abnormal thumb morphology", - "subdivision of trunk", - "decreased qualitatively biological_process", - "anatomical entity", - "telencephalon", - "abnormal oral cavity morphology", - "integumentary projection", - "anterior region of body", - "Congenital abnormal hair pattern", - "Abnormality of the ovary", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "reproductive structure", - "anatomical system", - "skeletal tissue", - "Cognitive impairment", - "negative regulation of cellular biosynthetic process", - "organ subunit", - "abnormal internal genitalia", - "abnormal anatomical entity morphology in the brain", - "visual system", - "Genital neoplasm", - "external integument structure", + "platelet", + "pelvic region element", + "Abnormal heart morphology", + "platelet phenotype", + "middle ear", + "number of platelet phenotype", + "regulation of biological process", + "decreased number of platelet", + "absent organ in the limb", + "Abnormal platelet count", + "Short finger", + "negative regulation of metabolic process phenotype", + "decreased size of the endochondral bone", + "aplasia or hypoplasia of manual digit 1", + "anatomical entity morphology in the manus phenotype", + "cornea, curved phenotype", + "cervical region of vertebral column", + "articulation", + "autopodial skeleton", + "fused vertebra and anatomical entity", + "digit 1 or 5", + "absent endochondral element", + "segmental subdivision of hindbrain", + "manual digit", + "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype", + "manual digit 1 plus metapodial segment", + "decreased length of organism subdivision", + "gland phenotype", + "brain white matter morphology phenotype", + "decreased size of the organism subdivision", + "thyroid gland physiology phenotype", + "manus morphology phenotype", + "immune system phenotype", + "digit phenotype", + "number of anatomical enitites of type anatomical structure phenotype", + "skeleton of manus", + "segment of manus", + "digitopodium region", + "manual digit 1", + "artery phenotype", + "autopodial extension", + "Decreased body weight", + "metacarpal bone of digit 1 morphology phenotype", + "decreased size of the ectoderm-derived structure", + "pectoral appendage skeleton", + "regulation of metabolic process", + "nervous system commissure phenotype", + "metacarpal bone of digit 1", + "Aplasia/Hypoplasia of fingers", + "organic substance transport", + "digit 1", + "Aplasia/Hypoplasia of the cerebrum", + "absent multicellular anatomical structure in the skeletal system", + "decreased length of manual digit", + "viscus phenotype", + "regional part of nervous system", + "closing of the endoderm-derived structure", + "Aplasia/Hypoplasia of the thumb", + "septum pellucidum", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal digit morphology", + "digit morphology phenotype", + "digit 1 or 5 phenotype", + "irregular bone phenotype", + "autopodial extension phenotype", + "vertebral column phenotype", + "Abnormality of joint mobility", + "digit 1 plus metapodial segment", + "manual digit plus metapodial segment", + "oxygen accumulating cell", + "manual digit phenotype", + "decreased developmental process", + "amide transport", + "Short thumb", + "absent bone of free limb or fin in the limb", + "Abnormal myeloid cell morphology", + "segmental subdivision of nervous system", + "vertebral column morphology phenotype", + "autopod region", + "decreased length of manual digit 1 or 5", + "arterial blood vessel", + "anatomical structure development", + "appendicular skeleton", + "Short digit", + "autopod endochondral element phenotype", + "autopod region morphology phenotype", + "decreased length of digit 1", + "material anatomical entity, curved phenotype", + "endocrine gland phenotype", + "Absent septum pellucidum", + "embryo development phenotype", + "Abnormality of the ureter", + "systemic artery", + "delayed biological_process", + "brain gray matter", + "embryo development", + "hypothalamus-pituitary axis phenotype", + "decreased functionality of the gland", + "decreased qualitatively developmental process", + "decreased functionality of the multicellular anatomical structure", + "Intrauterine growth retardation", + "absent multicellular anatomical structure in the forelimb", + "neuron projection bundle phenotype", + "decreased qualitatively embryo development", + "metacarpal bone morphology phenotype", + "Abnormal ear physiology", + "decreased qualitatively anatomical structure development", + "Growth delay", + "multicellular organism development", + "developmental process phenotype", + "external acoustic meatus atresia", + "radius bone", + "growth phenotype", + "Abnormality of the endocrine system", + "occurrent", + "middle ear phenotype", + "Myopia", + "anatomical structure development phenotype", + "Abnormality of the skin", + "biological_process rate phenotype", + "absent anatomical structure in the limb", + "decreased qualitatively multicellular organismal process", + "Hearing impairment", + "limb bone morphology phenotype", + "nervous system process", + "number of myeloid cell phenotype", + "ear morphology phenotype", + "multi organ part structure physiology phenotype", + "decreased qualitatively nervous system process", + "digit 1 phenotype", + "multi organ part structure", + "face", + "decreased functionality of the thyroid gland", + "ear physiology phenotype", + "multi organ part structure phenotype", + "Conductive hearing impairment", + "middle ear physiology phenotype", + "system process", + "sensory perception phenotype", + "decreased qualitatively sensory perception of sound", + "decreased length of phalanx of manus", + "decreased qualitatively system process", + "decreased sensory perception of sound", + "nervous system", + "anatomical system physiology phenotype", + "Abnormal ear morphology", + "incomplete closing of the anatomical conduit", "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "organelle organization", + "absent organism subdivision in the multicellular organism", + "ductus arteriosus", + "sensory perception of sound phenotype", + "system process phenotype", + "decreased nervous system process", + "subdivision of organism along main body axis phenotype", + "cervical vertebra endochondral element phenotype", + "subdivision of tube", + "establishment of localization", + "cell-cell signaling", + "increased pigmentation in skin of body", + "ductus arteriosus morphology phenotype", + "cranial neuron projection bundle phenotype", + "manual digit bone", + "decreased sensory perception", + "developmental process rate phenotype", + "closing of the anatomical conduit", + "Functional abnormality of the bladder", + "ear", + "gland morphology phenotype", + "neck bone phenotype", + "metapodial skeleton", + "negative regulation of cellular biosynthetic process", + "haemolymphatic fluid", + "bone of dorsum phenotype", + "dorsal part of neck", + "Short stature", + "Abnormality of the vertebral column", + "postcranial axial skeleton", + "protein-containing material entity", + "Abnormal neck morphology", + "optic disc morphology phenotype", + "negative regulation of gene expression", + "dorsal region element phenotype", + "neck phenotype", + "Abnormality of the neck", + "trunk or cervical vertebra", + "Abnormality of the cardiovascular system", + "dorsal region element", + "Abnormal limb bone morphology", + "decreased length of neck", + "central nervous system morphology phenotype", + "cervical vertebra endochondral element", + "cervical region", + "Abnormal axial skeleton morphology", + "vertebral column", "postcranial axial skeletal system", - "paired limb/fin skeleton", - "female organism", - "abnormal internal female genitalia morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal female reproductive system morphology", - "multicellular anatomical structure", - "abnormal genitourinary system", - "abnormal scalp", - "Abnormality of brain morphology", - "craniocervical region", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormal nose morphology", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "deviation of manual digit 1", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal female reproductive organ morphology", - "digestive tract", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "forelimb", - "Abnormal forebrain morphology", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "hemolymphoid system", + "vibrational conductance of sound to the inner ear", + "bladder organ physiology phenotype", + "neck", + "vertebral element phenotype", + "aplastic manual digit 1", + "absent organism subdivision", + "diencephalon", + "absent autopodial extension", "organ part", - "abnormal ocular adnexa", - "roof of mouth", - "Abnormality of the orbital region", - "Sparse hair", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "orbital region", - "Abnormal ocular adnexa morphology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "decreased size of the eyeball of camera-type eye", - "Abnormal eyelid morphology", - "digit 1", - "Abnormal thorax morphology", - "abnormal strand of hair", - "ocular adnexa", - "camera-type eye", - "prominent anatomical entity", - "Abnormality of the hand", - "Anemia", - "increased length of the anatomical entity", - "abnormal location of anatomical entity", - "Clinodactyly", - "abnormal eyeball of camera-type eye", - "Abnormality of globe location", - "skeleton of limb", - "increased anatomical entity length in independent continuant", - "abnormal upper lip morphology", - "Hypertelorism", - "motor coordination", - "Abnormal eye morphology", - "deviation of digit towards the middle", - "abnormal anatomical entity topology in independent continuant", - "abnormal location of eyeball of camera-type eye", - "eyeball of camera-type eye", - "abnormal integument", - "decreased qualitatively growth", + "number of anatomical enitites of type organism subdivision phenotype", + "U-shaped kidney", + "skeleton of manual digitopodium", + "Absent thumb", + "absent forelimb zeugopod bone in the forelimb", + "shape anatomical entity", + "ventricular system of brain", + "structure with developmental contribution from neural crest, curved phenotype", + "renal pelvis/ureter", + "material anatomical entity, asymmetrically curved phenotype", + "primary circulatory organ", + "ectoderm-derived structure, curved phenotype", + "cornea", + "anterior segment of eyeball", + "shape cornea", + "Abnormal eye physiology", + "multicellular organism development phenotype", + "asymmetrically curved anatomical entity", + "curvature anatomical entity", + "manual digit morphology in the manus phenotype", + "neural crest-derived structure phenotype", + "fused vertebra and vertebra", + "neural crest-derived structure, curved phenotype", + "neck bone", + "intestine atresia", + "ventricular system of central nervous system", + "cornea phenotype", + "Decreased head circumference", + "regulation of macromolecule biosynthetic process phenotype", + "anatomical structure, asymmetrically curved phenotype", + "ocular surface region", + "brain morphology phenotype", + "absent mesoderm-derived structure in the limb", + "anatomical structure, curved phenotype", + "Hypothyroidism", + "interatrial septum perforation", + "craniocervical region", + "endocrine system phenotype", + "decreased functionality of the anatomical entity", + "decreased functionality of the material anatomical entity", + "Abnormality of thyroid physiology", + "decreased functionality of the endoderm-derived structure", + "Abnormal cornea morphology", + "gland", + "decreased functionality of the organ", + "thyroid gland phenotype", + "gland physiology phenotype", + "decreased size of the endochondral element", + "endocrine gland", + "absent radius bone", + "cranial skeletal system", + "anatomical entity dysfunction in independent continuant", + "Duodenal atresia", "Abnormality of chromosome stability", - "immaterial entity", - "abnormal size of palpebral fissure", - "abnormal nasal bridge morphology", - "Abnormal size of the palpebral fissures", - "decreased width of the anatomical entity", - "anatomical projection", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal pilosebaceous unit morphology", - "abnormal skin of body", - "regulation of cellular biosynthetic process", - "epithelium", - "system", - "snout", - "integumental system", - "integument", - "chemosensory system", - "skin of body", - "pilosebaceous unit", - "abnormal autopod region morphology", - "bone of free limb or fin", - "abnormal skin of body morphology", + "cervical vertebra morphology phenotype", + "axial skeleton plus cranial skeleton morphology phenotype", "neural crest-derived structure", - "ecto-epithelium", - "cutaneous appendage", - "skin epidermis", - "primary metabolic process", - "Abnormality of the skin", - "abnormal hematopoietic system", - "Abnormality of the dentition", - "strand of hair", - "phenotype", - "anatomical space", - "paired limb/fin", - "increased length of the strand of hair", - "immaterial anatomical entity", - "abnormal eyelash morphology", + "dorsal part of neck morphology phenotype", + "skeletal joint", + "articulation phenotype", + "Abnormal joint physiology", + "decreased length of manual digit 1 metacarpus endochondral element", + "number of anatomical enitites of type organ phenotype", + "fused skeletal joint and skeletal joint", + "vertebra morphology phenotype", + "Abnormal vertebral morphology", + "decreased number of material anatomical entity", + "articular system", + "negative regulation of biological process", + "fused anatomical entity and cervical vertebra", + "Abnormal musculoskeletal physiology", + "skeletal joint phenotype", + "skeletal joint morphology phenotype", + "absent forelimb zeugopod bone", + "Vertebral segmentation defect", + "decreased embryo development", + "musculoskeletal system phenotype", + "endoderm-derived structure phenotype", + "brain ventricle/choroid plexus", + "brain commissure", + "peptide transport", + "aplasia or hypoplasia of radius bone", + "musculoskeletal system physiology phenotype", + "metencephalon", + "fused cervical vertebra and cervical vertebra", + "incomplete closing of the multicellular anatomical structure", + "decreased qualitatively sensory perception", + "telencephalon morphology phenotype", + "brain ventricle morphology phenotype", + "brain ventricle/choroid plexus morphology phenotype", + "brain white matter", + "negative regulation of cellular process phenotype", + "Abnormal lateral ventricle morphology", + "telencephalon", + "telencephalic ventricle morphology phenotype", + "brain", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "eukaryotic cell", + "Abnormal brain morphology", + "decreased length of manual digit metacarpus endochondral element", + "artery", + "telencephalon phenotype", + "absent bone of pectoral complex in the forelimb", + "size of skull phenotype", + "regional part of brain phenotype", + "intercerebral commissure", + "Abnormal skull morphology", + "pituitary gland morphology phenotype", + "skull morphology phenotype", + "Abnormality of the outer ear", "obsolete cell", - "programmed DNA elimination", - "digestive system", - "subdivision of tube", - "Abnormality of the breast", - "abnormality of multicellular organism mass", - "Abnormal oral morphology", - "Abnormality of digestive system morphology", - "negative regulation of cellular process", - "abnormal limb", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormal cellular component organization", - "midface", - "Abnormal central motor function", - "facial skeleton", - "jaw skeleton", - "abnormal mouth morphology", - "oral cavity", - "Breast carcinoma", - "dentition", - "Thick upper lip vermilion", - "increased length of the eyelash", - "abnormal digestive system", - "Abnormality of body height", - "tube", - "subdivision of digestive tract", - "Tooth malposition", - "Short palpebral fissure", - "acropodium region", - "abnormal head", - "decreased width of the anatomical entity in independent continuant", - "integumentary adnexa", - "jaw region", - "arm", - "tooth row", - "anatomical cavity", - "regional part of nervous system", - "Abnormal midface morphology", - "prominent nasal bridge", - "Abnormality of the scalp hair", - "cellular process", - "Abnormality of the frontal hairline", - "abnormal chest", - "abnormal primary metabolic process", - "Low anterior hairline", - "Abnormality of the hairline", - "appendicular skeletal system", - "abnormal telencephalon morphology", - "Abnormality of the forehead", - "abnormal spatial pattern of strand of hair", - "abnormal hairline", - "Narrow palate", + "urinary bladder", + "material anatomical entity mass phenotype", + "bladder organ phenotype", + "external acoustic meatus morphology phenotype", + "number of anatomical enitites of type neuron projection bundle phenotype", + "Abnormality of blood and blood-forming tissues", + "external ear phenotype", + "intestine phenotype", + "Abnormal auditory canal morphology", + "Aplasia/hypoplasia of the extremities", + "external ear morphology phenotype", + "anatomical conduit phenotype", + "intestine", + "Decreased multicellular organism mass", + "incomplete closing of the arterial blood vessel", + "decreased material anatomical entity mass", + "transport phenotype", + "bone marrow cell", + "biological_process phenotype", + "upper limb segment", + "biological_process", + "multicellular organism phenotype", + "cellular process phenotype", + "forelimb zeugopod bone phenotype", + "decreased anatomical structure mass", + "aplasia or hypoplasia of manual digit", + "multicellular anatomical structure mass phenotype", + "multicellular organism mass phenotype", + "regulation of hormone levels", + "anatomical entity perforation", + "signaling", + "aplasia or hypoplasia of cranial nerve II", + "cavitated compound organ physiology phenotype", + "absent endochondral bone", + "signal release", + "growth hormone secretion", + "camera-type eye phenotype", + "peptide transport phenotype", + "secretion by cell phenotype", + "manual digit metacarpus endochondral element phenotype", + "Abnormal growth hormone level", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "regulation of biological quality", + "Abnormality of neutrophils", + "secretion by cell", + "absent ectoderm-derived structure in the brain", + "peptide secretion phenotype", + "export from cell phenotype", + "trunk or cervical vertebra phenotype", + "chemical entity", "biological regulation", "Global developmental delay", - "biological_process", - "abnormal chest morphology", - "trunk", - "Abnormal breast morphology", - "breast", - "abnormal breast morphology", - "Atypical behavior", - "Neoplasm of the breast", - "abnormal breast", - "abnormal skin of head morphology", - "Ovarian carcinoma", - "naris", - "Abnormality of upper lip vermillion", - "limb bone", - "Thick vermilion border", - "Abnormal lip morphology", - "abnormal lip morphology", - "Abnormality of the genitourinary system", - "blood cell", - "lip", - "Abnormal hair quantity", - "abnormal appendicular skeleton morphology", - "external soft tissue zone", - "digit plus metapodial segment", - "subdivision of organism along appendicular axis", - "limb segment", - "abnormal digit morphology", - "digit", - "bone element", - "skull", - "limb skeleton subdivision", - "appendicular skeleton", - "anatomical conduit", - "abnormal limb morphology", - "bone of appendage girdle complex", - "mesoderm-derived structure", - "limb endochondral element", - "digitopodium region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal erythrocyte morphology", - "myeloid cell", - "Abnormal erythroid lineage cell morphology", - "hematopoietic cell", - "oxygen accumulating cell", - "abnormal myeloid cell morphology", - "Deviation of the hand or of fingers of the hand", - "abnormal calcareous tooth morphology", - "abnormal erythroid lineage cell morphology", - "abnormal hematopoietic cell morphology", - "external nose", - "abnormal integumentary adnexa morphology", - "changed biological_process rate", - "abnormality of anatomical entity mass", - "Aplasia/Hypoplasia involving the central nervous system", - "decreased multicellular organism mass", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "aplasia or hypoplasia of telencephalon", - "Abnormality of body weight", - "growth", - "negative regulation of biological process", - "Failure to thrive", - "Decreased multicellular organism mass", - "abnormal number of anatomical enitites of type anatomical entity", - "appendage girdle complex", - "subdivision of head", - "abnormal number of anatomical enitites of type strand of hair", - "decreased qualitatively response to stimulus", - "deviation of anatomical entity", - "Ataxia", + "abdominal segment of trunk", + "Aplasia/Hypoplasia of the optic nerve", + "localization", + "number of anatomical enitites of type neutrophil phenotype", + "manus phenotype", + "peptide hormone secretion", + "regulation of hormone levels phenotype", + "amide transport phenotype", + "establishment of localization phenotype", + "Abnormality of the lower urinary tract", + "Abnormal circulating hormone concentration", + "Abnormal forearm morphology", + "posterior segment of eyeball morphology phenotype", + "export from cell", + "cell communication", + "hormone transport", + "Ventricular septal defect", + "small intestine", + "secretion", + "size of eyeball of camera-type eye phenotype", + "Abnormal gastrointestinal tract morphology", + "Aplasia/Hypoplasia affecting the eye", + "blood", + "anatomical cluster", + "absent anatomical entity in the multicellular organism", + "Microphthalmia", + "absent anatomical entity", + "decreased size of the eyeball of camera-type eye", + "absent skeletal element", + "Hearing abnormality", + "Abnormal metencephalon morphology", + "decreased length of metapodium bone", + "closing of the organ part", + "anatomical entity morphology in the brain phenotype", + "formed multicellular anatomical structure", + "formed anatomical structure", + "absent anatomical structure in the brain", + "hindbrain morphology phenotype", + "Abnormal nervous system morphology", + "cerebellum", + "external acoustic meatus", + "cerebellum phenotype", + "brain commissure morphology phenotype", + "cranial nerve II phenotype", + "Aplasia/Hypoplasia affecting the fundus", + "Optic nerve hypoplasia", + "multi cell part structure phenotype", + "cranial nerve II hypoplasia", + "Functional abnormality of the middle ear", + "nervous system physiology phenotype", + "Neurodevelopmental abnormality", + "Neurodevelopmental delay", + "multicellular anatomical structure physiology phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "regulation of cellular process", + "programmed DNA elimination by chromosome breakage", + "negative regulation of gene expression phenotype", + "regulation of cellular process phenotype", + "homeostatic process", + "paired limb/fin", + "Chromosome breakage", + "trunk region element phenotype", + "absent limb endochondral element in the forelimb", + "regulation of cellular biosynthetic process", + "Abnormal cardiac septum morphology", + "metabolic process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular process", + "arm phenotype", + "regulation of cellular metabolic process", + "ectoderm-derived structure phenotype", + "regulation of biosynthetic process", + "Chromosomal breakage induced by crosslinking agents", + "regulation of macromolecule metabolic process", + "trunk region element physiology phenotype", + "bladder organ", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "sac physiology phenotype", + "renal system phenotype", + "decreased length of metacarpal bone of digit 1", + "Abnormal cardiovascular system morphology", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ phenotype", + "viscus physiology phenotype", + "multicellular anatomical structure", + "hematopoietic system", + "ureter phenotype", + "Vesicoureteral reflux", + "compound organ phenotype", + "excretory tube phenotype", + "non-connected functional system", + "lower urinary tract phenotype", + "musculoskeletal system", + "Short neck", + "abdominal segment element", + "manual digit 1 phalanx endochondral element", + "excretory tube", + "Limb undergrowth", + "genitourinary system", ], - "has_phenotype_count": 30, + "has_phenotype_count": 44, "highlight": None, "score": None, }, diff --git a/backend/tests/fixtures/search_response.py b/backend/tests/fixtures/search_response.py index 4ec64a0a2..6703604fa 100644 --- a/backend/tests/fixtures/search_response.py +++ b/backend/tests/fixtures/search_response.py @@ -5,7 +5,7 @@ def search_response(): return { "responseHeader": { - "QTime": 4, + "QTime": 2, "params": { "mm": "100%", "q": "fanconi", @@ -21,17 +21,20 @@ def search_response(): }, }, "response": { - "num_found": 118, + "num_found": 122, "start": 0, "docs": [ { "id": "MONDO:0019391", "category": "biolink:Disease", "name": "Fanconi anemia", + "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.", + "provided_by": "phenio_nodes", "xref": [ "DOID:13636", "GARD:6425", "ICD9:284.09", + "MEDGEN:41967", "MESH:D005199", "MedDRA:10055206", "NANDO:1200303", @@ -44,8 +47,6 @@ def search_response(): "SCTID:30575002", "UMLS:C0015625", ], - "provided_by": "phenio_nodes", - "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.", "synonym": [ "Fanconi anemia", "Fanconi pancytopenia", @@ -58,43 +59,34 @@ def search_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0010469", - "HP:0000377", + "HP:0000047", "HP:0002575", "HP:0000483", "HP:0000238", "HP:0001249", + "HP:0001000", "HP:0100587", "HP:0100026", "HP:0040071", - "HP:0012639", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0002245", - "HP:0002023", - "HP:0001824", - "HP:0001646", "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000453", - "HP:0000047", - "HP:0007874", - "HP:0002650", "HP:0000252", - "HP:0001882", - "HP:0001510", - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0002863", "HP:0100867", "HP:0100760", "HP:0100542", + "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", @@ -108,17 +100,23 @@ def search_response(): "HP:0002827", "HP:0002823", "HP:0002251", + "HP:0002245", + "HP:0002023", "HP:0002007", + "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", + "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", + "HP:0001510", "HP:0001347", "HP:0001199", "HP:0000813", @@ -130,6 +128,7 @@ def search_response(): "HP:0000492", "HP:0000486", "HP:0000478", + "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -148,7 +147,9 @@ def search_response(): "HP:0000010", "HP:0012745", "HP:0012210", + "HP:0007874", "HP:0002664", + "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -159,50 +160,41 @@ def search_response(): "HP:0003220", "HP:0002817", "HP:0001903", + "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", "HP:0001053", - "HP:0001000", ], "has_phenotype_label": [ - "Absent testis", - "Abnormal pinna morphology", + "Hypospadias", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", "Intellectual disability", + "Abnormality of skin pigmentation", "Abnormal preputium morphology", "Arteriovenous malformation", "Abnormal morphology of ulna", - "Abnormal nervous system morphology", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Meckel diverticulum", - "Anal atresia", - "Weight loss", - "Abnormal aortic valve morphology", "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", "Microcephaly", - "Leukopenia", - "Growth delay", - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", - "Oligohydramnios", + "Myelodysplasia", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", + "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", @@ -214,19 +206,25 @@ def search_response(): "Clinodactyly of the 5th finger", "Hypoplasia of the ulna", "Hip dislocation", - "Abnormality of femur morphology", + "Abnormal femur morphology", "Aganglionic megacolon", + "Meckel diverticulum", + "Anal atresia", "Frontal bossing", + "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", + "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", + "Growth delay", "Hyperreflexia", "Triphalangeal thumb", "Bicornuate uterus", @@ -238,6 +236,7 @@ def search_response(): "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", + "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -256,7 +255,9 @@ def search_response(): "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", + "Almond-shaped palpebral fissure", "Neoplasm", + "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -267,3184 +268,3808 @@ def search_response(): "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", + "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", "Hypopigmented skin patches", - "Abnormality of skin pigmentation", ], "has_phenotype_count": 106, "has_phenotype_closure": [ "HP:0001010", - "UPHENO:0084987", - "UPHENO:0085070", "HP:0001873", - "UPHENO:0086173", - "CL:0000458", - "UPHENO:0085189", - "UPHENO:0086049", - "CL:0000233", + "UPHENO:0080010", "CL:0000457", + "UPHENO:0077373", + "CL:0000233", + "CL:0000458", "UPHENO:0085344", "HP:0011875", - "HP:0001939", + "UPHENO:0086173", + "HP:0011893", + "CL:0000738", + "UPHENO:0088166", + "UPHENO:0035160", + "UPHENO:0088319", + "UPHENO:0076675", + "UBERON:0000179", + "CL:0000255", + "CL:0000219", + "UBERON:0000178", + "UPHENO:0077348", + "UPHENO:0085410", + "UPHENO:0049904", "GO:0008152", "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0048871", - "UPHENO:0088162", - "UPHENO:0088170", - "CL:0000329", "HP:0010972", - "HP:0020047", - "CL:0000764", - "HP:0005522", - "HP:0001877", - "HP:0025461", - "UPHENO:0084928", - "GO:0030218", + "GO:0030099", + "GO:0030097", + "CL:0000988", + "GO:0048872", + "GO:0042592", "GO:0002376", "GO:0009987", - "GO:0042592", - "GO:0048869", + "HP:0001877", "CL:0000232", - "GO:0048872", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", - "HP:0002818", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "UPHENO:0088170", + "CL:0000764", + "CL:0001035", + "GO:0030218", + "UPHENO:0088162", + "HP:0025461", "UBERON:0015001", "UPHENO:0080187", - "HP:0012745", + "HP:0002650", + "HP:0200005", + "UPHENO:0041462", + "UPHENO:0069119", + "UPHENO:0046755", "UPHENO:0075198", + "UPHENO:0069562", "HP:0000010", "UPHENO:0002263", + "UPHENO:0002948", + "UPHENO:0053561", + "CL:0000329", + "UPHENO:0053632", + "UPHENO:0002940", + "UPHENO:0053647", "UPHENO:0053644", + "UPHENO:0053572", "HP:0000028", + "UPHENO:0053559", + "UBERON:0000056", + "UPHENO:0002636", "UBERON:0036295", + "HP:0000072", "UBERON:0006555", - "UPHENO:0002806", + "UPHENO:0003101", "HP:0025633", - "UBERON:0000056", - "UPHENO:0086132", + "UPHENO:0002859", + "UPHENO:0002426", + "UPHENO:0002377", + "UPHENO:0002427", "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", - "HP:0000083", + "UPHENO:0002422", "HP:0000135", + "UPHENO:0003056", + "UPHENO:0002381", + "UPHENO:0066972", + "UPHENO:0066945", + "UPHENO:0033589", + "UPHENO:0002806", + "UPHENO:0033612", "HP:5201015", - "UPHENO:0034110", - "UPHENO:0063513", + "UPHENO:0077399", + "UPHENO:0001392", + "HP:0000218", + "UPHENO:0063518", + "UPHENO:0063524", "UPHENO:0081423", + "UPHENO:0063529", + "UPHENO:0063519", "HP:0000268", - "UPHENO:0001208", "UPHENO:0072402", - "UBERON:0001084", + "UPHENO:0072332", "UPHENO:0087058", - "UBERON:0013766", - "UPHENO:0087928", "UBERON:1000021", + "UPHENO:0087928", + "UPHENO:0072266", + "UBERON:0013766", + "UPHENO:0072293", + "UBERON:0001084", "UPHENO:0084734", "HP:0001999", "HP:0000324", - "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0076704", + "UPHENO:0041151", "UPHENO:0041083", - "UPHENO:0081786", - "UBERON:0004768", - "HP:0004322", - "HP:0030791", - "HP:0000277", - "UPHENO:0083646", - "UPHENO:0081314", - "UPHENO:0084457", + "HP:0000347", "HP:0000286", "HP:0009118", - "UPHENO:0088116", + "UPHENO:0081314", "CL:0000081", "UBERON:0012360", + "UPHENO:0002732", + "UBERON:0001710", + "UPHENO:0076780", + "UPHENO:0002815", + "HP:0011873", + "UPHENO:0081788", + "UPHENO:0088116", + "UPHENO:0002772", + "UPHENO:0081141", + "HP:0012745", + "UPHENO:0002818", "UPHENO:0080087", - "UPHENO:0069249", "UBERON:0001708", - "UBERON:0011156", "UBERON:0003278", "UBERON:0001684", - "UPHENO:0081141", + "UPHENO:0002761", + "HP:0000277", + "UBERON:0004768", + "UPHENO:0081786", + "UPHENO:0002942", "HP:0009116", - "HP:0000347", - "UBERON:0001710", - "HP:0009122", - "HP:0011873", - "UPHENO:0081788", - "UPHENO:0005518", "HP:0000365", - "GO:0050954", "UPHENO:0052970", - "HP:0000549", + "UPHENO:0005513", + "UPHENO:0005518", + "UPHENO:0087894", + "UPHENO:0063621", + "HP:0000453", + "HP:0000415", + "HP:0000366", + "UPHENO:0002906", + "UPHENO:0063595", + "UPHENO:0033635", + "UBERON:0004771", + "UBERON:0000003", "HP:0000486", - "UPHENO:0052164", - "UPHENO:0050236", - "GO:0050953", "GO:0034101", "UPHENO:0050622", - "HP:0000520", + "UPHENO:0052165", + "UPHENO:0052159", + "UPHENO:0052162", + "UPHENO:0050236", + "GO:0050953", + "UPHENO:0052161", + "UPHENO:0052164", "UPHENO:0085881", - "HP:0000568", - "UPHENO:0075219", + "HP:0000520", + "UPHENO:0068914", "HP:0100887", - "UPHENO:0066972", - "UPHENO:0080581", - "UPHENO:0079837", + "UPHENO:0069161", + "UPHENO:0075219", + "UPHENO:0002467", + "UPHENO:0003044", "HP:0000359", - "HP:0000496", "UPHENO:0079828", + "HP:0031704", + "HP:0000496", "HP:0007670", "UPHENO:0002240", - "UPHENO:0080602", - "UPHENO:0003044", - "HP:0011821", - "HP:0012547", - "HP:0031704", - "UBERON:0003100", + "UPHENO:0079837", "HP:0000008", - "UBERON:0003975", - "UPHENO:0003053", - "UPHENO:0041033", - "HP:0010460", "UPHENO:0005170", - "UBERON:0000993", - "UBERON:0013515", + "UBERON:0003100", "HP:0000130", + "UPHENO:0041664", + "UPHENO:0041033", + "UPHENO:0003053", "HP:0002719", "UPHENO:0076766", - "UBERON:0012358", - "GO:0002262", - "UBERON:0003620", - "UBERON:0006048", + "HP:0010460", + "UBERON:0000993", + "UPHENO:0046471", + "UBERON:0013515", + "UBERON:0003975", + "UPHENO:0002977", "UBERON:5006048", - "UBERON:0015025", - "HP:0001172", + "UBERON:5102389", "UBERON:0015024", - "UPHENO:0021800", + "UBERON:0001463", + "UBERON:0006048", + "UBERON:0015025", "UPHENO:0076724", - "UBERON:5102389", - "GO:0007610", + "HP:0001172", + "UPHENO:0050620", + "GO:0060004", "HP:0000708", - "HP:0001347", - "NBO:0000389", - "UPHENO:0050606", - "UPHENO:0083263", - "UPHENO:0049622", + "HP:0100022", "UBERON:0004742", 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"UBERON:0005881", "UPHENO:0076779", "UBERON:0001846", "UBERON:0002217", - "UPHENO:0087806", - "UPHENO:0002828", - "UBERON:0007375", + "UPHENO:0052178", + "UPHENO:0081709", + "UPHENO:0053298", + "UBERON:0000165", + "GO:0003006", + "UPHENO:0033562", + "UPHENO:0002648", + "GO:0048609", + "UPHENO:0033607", + "UPHENO:0068912", + "UPHENO:0046403", + "GO:0019953", + "UBERON:0008784", + "UPHENO:0049970", + "UPHENO:0035147", + "UPHENO:0085875", + "UPHENO:0002406", + "UPHENO:0082875", + "UPHENO:0003025", + "UPHENO:0005648", + "GO:0048232", + "UPHENO:0010799", + "CL:0000300", + "UPHENO:0005512", + "GO:0022414", + "GO:0007283", + "HP:0011389", + "GO:0007276", + "GO:0050881", + "HP:0008669", + "UPHENO:0002868", + "UPHENO:0087531", + "UPHENO:0086198", + "UPHENO:0033592", + "HP:0000027", + "UBERON:0035133", + "NCBITaxon:6072", + "UPHENO:0002599", + "UPHENO:0026506", + "UPHENO:0002875", + "UPHENO:0002323", + "UPHENO:0005185", + "UBERON:0004529", + "HP:0012874", + "UBERON:0015030", + "HP:0002664", + "UBERON:0002390", + "UPHENO:0081566", + "UPHENO:0014240", + "UPHENO:0003082", + "UPHENO:3000003", + "UPHENO:0068898", + "UPHENO:0087597", + "NCBITaxon:1", + "UBERON:0002114", + "UBERON:0000160", + "HP:0002244", + "UPHENO:0076728", + "UBERON:0002108", + "UPHENO:0002808", + "UPHENO:0087427", + "UPHENO:0076783", + "UPHENO:0052231", + "UPHENO:0081594", + "HP:0001882", + "UBERON:0005440", + "UPHENO:0002905", + "UPHENO:0075944", + "UPHENO:0084654", + "UPHENO:0033603", + "UBERON:0001466", + "UBERON:0001449", + "UBERON:0001711", + "UBERON:0003221", + "UPHENO:0087369", + "UBERON:0010709", + "HP:0040068", + "UBERON:0002470", + "UBERON:0012139", + "CL:0000586", + "UBERON:0012359", + "UBERON:0003113", + "UPHENO:0041212", + "UBERON:0010543", + "CL:0000763", + "UPHENO:0002838", + "UPHENO:0049586", + "UBERON:0010742", + "HP:0004349", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "UPHENO:0063581", + "UPHENO:0087501", + "UPHENO:0053563", + "UBERON:0002386", + "UPHENO:0076800", + "UBERON:0002387", + "UBERON:0010538", + "UBERON:0005445", + "UPHENO:0046540", + "UBERON:0012142", + "UBERON:0010758", + "UBERON:0001890", + "UPHENO:0002994", + "UPHENO:0081091", + "UPHENO:0081575", + "UBERON:0004053", + "HP:0040072", + "UBERON:0001441", + "UBERON:0015023", + "UBERON:0000154", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0002964", + "UPHENO:0088140", + "UBERON:0006314", + "UPHENO:0041821", + "UPHENO:0002733", + "HP:0001824", + "UBERON:0004709", + "UPHENO:0086628", + "UPHENO:0076748", + "UBERON:0012152", + "UPHENO:0078375", + "UBERON:0010696", + "NBO:0000444", + "UPHENO:0081344", + "UPHENO:0086866", + "UBERON:0001445", + "UPHENO:0084763", + "HP:0100760", + "UPHENO:0086700", + "UBERON:0004248", + "HP:0011297", + "UPHENO:0076957", + "UPHENO:0001391", + "HP:0100790", + "HP:0010935", + "UPHENO:0075902", + "CL:0000015", + "UPHENO:0002754", + "UBERON:0002137", + "UBERON:0011143", + "UBERON:0007842", + "UBERON:0002113", + "UBERON:0002544", + "UPHENO:0076695", + "UBERON:0000060", + "UPHENO:0087585", + "UBERON:0011159", + "UPHENO:0079872", + "UBERON:0000982", + "UPHENO:0002807", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", "UBERON:0012240", "UBERON:0001734", "UBERON:0005944", "UBERON:0000079", "UBERON:0001716", + "UBERON:0000949", + "UBERON:0001733", + "UPHENO:0087806", + "UPHENO:0002828", + "UPHENO:0003095", + "UBERON:0034768", "UBERON:0002553", - "UPHENO:0076786", - "UBERON:0001703", - "UPHENO:0078215", + "HP:0010293", "UBERON:0004089", - "UPHENO:0088088", - "UBERON:0034768", - "HP:0031816", + "UPHENO:0063514", + "UPHENO:0081570", + "UPHENO:0076781", + "UPHENO:0004476", "UPHENO:0075843", "HP:0000172", - "UPHENO:0081570", + "UBERON:0007375", + "HP:0031816", "HP:0008678", "HP:0012372", "UBERON:0005179", - "UPHENO:0021670", + "HP:0010674", + "HP:0001217", + "UPHENO:0071332", + "UBERON:0001766", + "HP:0001155", + "UBERON:0003101", + "UPHENO:0080201", "HP:0000553", - "UPHENO:0041664", - "UPHENO:0086817", + "GO:0009605", + "UBERON:0004088", + "UPHENO:0088049", + "UBERON:0001464", + "UPHENO:0005231", + "UPHENO:0063794", "UBERON:0000063", + "UPHENO:0001147", "UBERON:0007273", "HP:0008056", - "UBERON:0001272", "GO:0005623", "UBERON:0006311", - "UBERON:0011892", - "UPHENO:0088183", - "UBERON:0004121", - "HP:0000525", - "UBERON:5002544", - "UBERON:0001769", - "HP:0008062", - "UPHENO:0081313", - "UPHENO:0082356", - "UBERON:0001766", - "GO:0009605", - "UBERON:0004088", - "UPHENO:0088049", "UPHENO:0071334", "UPHENO:0080209", - "UPHENO:0079826", - "UPHENO:0072814", + "UBERON:5002544", + "UBERON:0001769", "HP:0000593", + "UBERON:5002389", + "BFO:0000040", + "UPHENO:0071317", + "HP:0034261", + "UPHENO:0076692", + "UPHENO:0046445", + "HP:0008053", + "UPHENO:0054957", + "UPHENO:0074575", + "CL:0000225", + "UPHENO:0054970", "UBERON:0001359", "UPHENO:0074584", "UBERON:0000167", "UBERON:0001442", "HP:0001034", - "CL:0000225", - "UPHENO:0054970", - "UPHENO:0080221", - "UPHENO:0022529", - "HP:0008053", - "UPHENO:0054957", - "UPHENO:0078736", - "HP:0031105", - "UBERON:0002416", - "HP:0000309", - "UPHENO:0082682", - "HP:0012210", - "UPHENO:0059829", - "UPHENO:0074575", - "UPHENO:0080601", - "UPHENO:0086172", - "UPHENO:0074589", - "UPHENO:0084511", - "UPHENO:0066927", - "UBERON:0010000", - "UBERON:0010230", - "HP:0011121", + "UPHENO:0085371", + "UPHENO:0076723", "UBERON:0002384", "UBERON:0012141", - "UBERON:0003101", - "UPHENO:0080201", - "HP:0001155", + "UBERON:0005451", + "UPHENO:0084653", + "HP:0005922", + "UBERON:0002355", + "HP:0006265", + "UPHENO:0046487", "UPHENO:0049940", "UPHENO:0084761", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0085371", - "UPHENO:0076723", + "HP:0000483", + "UPHENO:0001360", + "UPHENO:0003799", + "HP:0008373", + "HP:0005927", "HP:0045060", - "CL:0000151", - "HP:0001510", - "HP:0001167", - "HP:0008373", - "HP:0005927", - "UPHENO:0084766", - "UPHENO:0084653", - "UBERON:0005451", - "HP:0005922", - "UPHENO:0082671", + "UPHENO:0076760", + "UPHENO:0084448", + "GO:0007275", + "UPHENO:0078288", + "HP:0001159", "UPHENO:0078179", - "UPHENO:0082835", - "HP:0011849", - "HP:0010469", - "UBERON:0008202", + "UPHENO:0053330", "UPHENO:0082834", "HP:0004209", - "UPHENO:0087203", "UBERON:0002412", "GO:0001503", - "HP:0009179", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", + "HP:0011849", + "UPHENO:0082835", "UPHENO:0076736", - "HP:0000377", - "HP:0004097", + "UBERON:5003625", + "UPHENO:0001031", "HP:0011446", "HP:0030084", + "HP:0000377", + "HP:0004097", + "HP:0001770", + "UPHENO:0086143", "UBERON:0012357", "UPHENO:0084842", "HP:0009824", - "UBERON:5003625", - "UPHENO:0080369", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UBERON:0002094", + "UPHENO:0046552", + "UPHENO:0068839", + "HP:0000478", + "UPHENO:0046554", + "UPHENO:0076804", + "UPHENO:0046505", + "HP:0001763", + "UPHENO:0068921", + "UPHENO:0087612", + "UPHENO:0046594", + "HP:0410014", + "UPHENO:0069292", + "UPHENO:0081581", "UPHENO:0012274", - "UPHENO:0012541", - "UPHENO:0081790", + "CL:0002092", + "UPHENO:0046484", + "HP:0000568", + "UPHENO:0069064", + "UPHENO:0069125", + "UPHENO:0087892", + "UPHENO:0001001", + "UPHENO:0012440", + "UPHENO:0002987", + "UPHENO:0002866", + "UPHENO:0069030", + "UPHENO:0046483", + "UBERON:0001005", + "UPHENO:0046472", + "UBERON:0003126", + "UPHENO:0002967", + "UPHENO:0068838", "UBERON:0012180", + "UPHENO:0063588", "UPHENO:0068971", - "UPHENO:0053580", - "HP:0040019", - "UPHENO:0069293", - "HP:0200007", - "HP:0009821", - "UBERON:0001464", - "UPHENO:0087602", - "UBERON:0001271", - "UBERON:0010425", - "UBERON:0007823", - "UPHENO:0087974", - "UBERON:0004770", + "UPHENO:0046397", + "UPHENO:0012312", + "UPHENO:0002902", + "UPHENO:0076754", + "UPHENO:0069194", + "UPHENO:0003015", + "UBERON:0003828", "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0005913", - "UBERON:0000982", - "HP:0002644", + "UBERON:0003463", + "UPHENO:0066905", + "UBERON:0003840", "HP:0000504", "UPHENO:0002813", + "UPHENO:0046465", "UPHENO:0087980", - "UBERON:0001457", - "UBERON:0008907", - "UPHENO:0079871", - "UBERON:0003463", - "UPHENO:0060026", + "UBERON:0011595", + "UPHENO:0081598", + "UPHENO:0081608", + "UPHENO:0003021", "HP:0001367", - "UBERON:0003828", - "UPHENO:0075945", - "UPHENO:0001001", - "UPHENO:0087892", - "UBERON:0008114", - "UBERON:0007828", - "UBERON:0003840", - "HP:0000271", - "UBERON:0005893", - "UBERON:5002389", - "UPHENO:0087558", - "UBERON:0001712", - "UBERON:0001950", - "UBERON:0003826", - "HP:0012331", + "UBERON:0007832", ], "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation in independent continuant", "decreased biological_process in multicellular organism", - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "decreased qualitatively biological_process in independent continuant", "Hypopigmentation of the skin", + "Abnormal platelet morphology", "Thrombocytopenia", "Abnormal platelet count", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of platelet", - "abnormal platelet", + "decreased number of platelet", + "number of platelet phenotype", + "serotonin secreting cell", "anucleate cell", - "secretory cell", - "abnormal blood cell", - "obsolete cell", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "Abnormal cellular immune system morphology", + "decreased number of hematopoietic cell", + "leukocyte", + "decreased number of anatomical structure in the multicellular organism", + "decreased number of leukocyte in the blood", + "decreased number of anatomical structure", + "Leukopenia", + "nucleate cell", + "motile cell", + "decreased number of anatomical entity in the blood", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "Abnormality of body height", + "decreased height of the multicellular organism", "decreased size of the multicellular organism", - "serotonin secreting cell", - "abnormal size of multicellular organism", + "size of multicellular organism phenotype", + "cellular developmental process", + "decreased number of anatomical entity in the multicellular organism", + "blood cell", + "Pyridoxine-responsive sideroblastic anemia", + "Abnormal bone marrow cell morphology", + "Sideroblastic anemia", + "homeostatic process", + "immune system process", + "cellular process", + "erythrocyte differentiation", + "Abnormal erythroid lineage cell morphology", + "cell development", "Abnormal myeloid cell morphology", "Anemia of inadequate production", - "erythrocyte differentiation", - "Sideroblastic anemia", - "myeloid cell differentiation", "hemopoiesis", "erythroid lineage cell", - "abnormal erythroid lineage cell morphology", - "immune system process", - "cellular process", - "homeostatic process", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", - "erythrocyte", - "myeloid cell", - "blood cell", - "erythrocyte homeostasis", "homeostasis of number of cells", - "cellular developmental process", - "Abnormal morphology of the radius", - "abnormal radius bone morphology", + "erythrocyte homeostasis", + "bone cell", "aplasia or hypoplasia of radius bone", - "radius bone", + "Abnormal morphology of the radius", + "radius bone phenotype", + "radius bone morphology phenotype", "Neurodevelopmental delay", + "shape palpebral fissure", + "Abnormal shape of the palpebral fissure", + "decreased size of the anatomical conduit", + "decreased size of the orifice", + "decreased length of ectoderm-derived structure", "decreased length of palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal size of palpebral fissure", - "abnormality of immune system physiology", - "Abnormality of immune system physiology", - "abnormally localised testis", - "abnormally localised anatomical entity in independent continuant", + "decreased size of the palpebral fissure", + "decreased length of orifice", + "decreased length of anatomical conduit", + "immune system physiology phenotype", + "Unusual infection", + "localised male reproductive organ", + "localised organ", "Cryptorchidism", + "localised anatomical structure", "ureter", + "excretory tube phenotype", "Abnormal ureter morphology", "Abnormality of the ureter", - "abnormal ureter morphology", - "Abnormal renal physiology", "Hypopigmented skin patches", "Abnormality of the urinary system physiology", - "abnormally decreased functionality of the gonad", + "cavitated compound organ physiology phenotype", + "abdominal segment element physiology phenotype", + "kidney physiology phenotype", + "Abnormal renal physiology", + "gonad physiology phenotype", + "decreased functionality of the gonad", + "decreased functionality of the reproductive structure", "Cleft palate", + "incomplete closing of the structure with developmental contribution from neural crest", "Craniofacial cleft", - "increased height of anatomical entity in independent continuant", - "increased height of the anatomical entity", + "incomplete closing of the multi-tissue structure", + "increased size of the structure with developmental contribution from neural crest", + "anatomical entity height phenotype", + "increased height of the anatomical structure", "High palate", - "increased size of the head", - "Increased head circumference", - "skin of head", + "increased height of the material anatomical entity", + "increased height of the roof of mouth", + "increased height of the anatomical entity", + "immune system morphology phenotype", + "increased height of the multicellular anatomical structure", + "increased height of the ectoderm-derived structure", + "increased size of the neural crest-derived structure", + "increased height of the multi-tissue structure", + "number of leukocyte phenotype", + "increased length of the ectoderm-derived structure", + "increased length of the organ part", "increased length of the epicanthal fold", "Epicanthus", - "head or neck skin", - "abnormal skin of face morphology", "upper eyelid", + "skin of head morphology phenotype", + "head or neck skin", "skin of face", "zone of skin", - "abnormal asymmetry of anatomical entity", - "abnormal shape of forehead", + "increased size of the zone of organ", + "skin of head", + "asymmetry of anatomical entity phenotype", + "Abnormal leukocyte count", + "Facial asymmetry", + "asymmetry of face phenotype", + "Sloping forehead", + "forehead morphology phenotype", "sloped anatomical entity", - "mandible hypoplasia", - "bone element hypoplasia in face", - "decreased size of the mandible", - "bone of lower jaw", "lower jaw region", - "facial skeleton", - "facial bone", + "dermal bone phenotype", + "increased height of the structure with developmental contribution from neural crest", + "intramembranous bone phenotype", + "bone element hypoplasia in face", + "secretory cell", + "bone of lower jaw phenotype", + "mandible morphology phenotype", "mandible", - "Abnormal mandible morphology", + "dentary phenotype", "facial bone hypoplasia", + "bone of lower jaw", "anatomical entity hypoplasia in face", - "abnormal mandible morphology", - "Hypoplastic facial bones", - "abnormal facial skeleton morphology", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Hearing abnormality", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "mandible hypoplasia", + "sensory perception of sound", "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "abnormal sensory perception of sound", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", + "Hearing abnormality", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased system process", + "Hearing impairment", + "nose phenotype", + "naris", + "olfactory organ", + "compound organ physiology phenotype", + "posterior nasal aperture morphology phenotype", + "naris atresia", + "posterior nasal aperture", "Abnormal conjugate eye movement", "Strabismus", - "abnormal sensory perception", + "visual perception", "sensory perception of light stimulus", + "decreased qualitatively system process", "decreased qualitatively visual perception", - "visual perception", - "abnormal sensory perception of light stimulus", - "abnormally protruding eyeball of camera-type eye", + "sensory perception phenotype", + "decreased qualitatively nervous system process", "Abnormality of globe size", - "cell development", - "abnormal size of eyeball of camera-type eye", - "cranial nerve related reflex", - "Abnormal vestibular function", - "Abnormality of eye movement", - "abnormality of ear physiology", + "sensory perception of light stimulus phenotype", + "size of eyeball of camera-type eye phenotype", + "decreased size of the ectoderm-derived structure", + "internal ear physiology phenotype", "eye movement", - "abnormal eye movement", - "abnormal physiologic nystagmus", - "abnormal vestibulo-ocular reflex", + "vestibulo-ocular reflex phenotype", "Abnormal vestibulo-ocular reflex", - "internal female genitalia", - "abnormal internal female genitalia morphology", + "Abnormality of eye movement", + "multi organ part structure physiology phenotype", + "Abnormal vestibular function", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", "female organism", - "abnormal uterus", - "abnormal female reproductive system", - "bicornuate anatomical entity", - "Abnormality of the female genitalia", - "Abnormality of the uterus", + "internal female genitalia morphology phenotype", + "decreased functionality of the organ", + "oviduct", "uterus", + "bicornuate anatomical entity", "shape uterus", - "oviduct", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", - "abnormal anatomical entity morphology in the skeleton of manus", - "manual digit 1", + "female reproductive organ morphology phenotype", + "Abnormality of the uterus", + "subdivision of oviduct phenotype", + "internal female genitalia", "Abnormal finger phalanx morphology", - "manual digit 1 digitopodial skeleton", - "abnormal manual digit 1 morphology", "Triphalangeal thumb", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", + "manual digitopodium bone", + "digit 1", + "manual digit 1 morphology phenotype", + "decreased sensory perception", + "manual digit bone", + "number of anatomical entities of type anatomical entity in blood phenotype", + "manual digit 1", + "ureter morphology phenotype", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Abnormality of the immune system", + "manual digit phalanx endochondral element", + "facial bone phenotype", + "manual digit 1 digitopodial skeleton", "manus bone", "excretory tube", "manual digit 1 phalanx endochondral element", - "abnormal incomplete closing of the secondary palate", "phalanx of manus", - "abnormal female reproductive system morphology", - "digit 1 digitopodial skeleton", - "skeleton of manual acropodium", - "skeleton of manual digitopodium", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", - "body part movement", + "manual digit 1 plus metapodial segment", "neuromuscular process", - "voluntary musculoskeletal movement", "kinesthetic behavior", - "multicellular organismal movement", - "Abnormality of movement", - "abnormal voluntary musculoskeletal movement", + "voluntary musculoskeletal movement", + "voluntary movement behavior phenotype", + "system process phenotype", + "reflex phenotype", + "increased response to stimulus", "Recurrent urinary tract infections", "involuntary movement behavior", - "Bicornuate uterus", - "abnormal behavior", - "Hyperreflexia", - "increased qualitatively response to stimulus", + "response to external stimulus phenotype", "reflex", - "abnormal response to external stimulus", + "increased qualitatively response to stimulus", + "Global developmental delay", + "reflexive behavior", + "behavior phenotype", + "Hyperreflexia", + "multicellular organismal movement phenotype", "decreased embryo development", - "abnormal embryo development", - "herniated abdominal wall", - "Abnormality of connective tissue", - "Abnormality of the abdominal wall", + "decreased qualitatively multicellular organismal process", + "anatomical structure development phenotype", + "multicellular organismal process phenotype", + "Growth delay", + "decreased qualitatively anatomical structure development", + "decreased qualitatively embryo development", + "delayed growth", + "embryo development rate phenotype", + "embryo development phenotype", + "Abnormality of vision", + "anatomical wall phenotype", "Hernia", - "herniated anatomical entity", - "Hernia of the abdominal wall", - "Abnormal umbilicus morphology", - "umbilicus", + "Abnormality of connective tissue", + "digit 1 digitopodial skeleton", + "tissue phenotype", + "herniated abdominal wall", "connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", - "abnormal cardiac atrium morphology", + "erythrocyte morphology phenotype", + "umbilicus", + "abdominal wall phenotype", + "herniated anatomical entity", + "facial skeleton", + "abdominal viscera", + "incomplete closing of the organ part", + "embryo phenotype", + "organism substance phenotype", + "Renal insufficiency", + "late embryo", + "Abnormality of prenatal development or birth", + "uterus phenotype", + "Oligohydramnios", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "embryonic development/birth phenotype", + "cardiac atrium morphology phenotype", + "metabolic process", + "Abnormal cardiac septum morphology", "interatrial septum", - "abnormal interatrial septum morphology", - "abnormal cardiac atrium morphology in the independent continuant", "Abnormal atrial septum morphology", - "abnormally increased volume of anatomical entity", - "Abnormal ventricular septum morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "hypertrophic cardiac ventricle", "cardiac septum", - "metabolic process", - "Abnormal cardiac septum morphology", - "increased size of the heart right ventricle", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "abnormal pulmonary valve morphology", - "interventricular septum", - "abnormal cardiac septum morphology", - "Abnormal pulmonary valve physiology", - "abnormality of cardiovascular system physiology", - "skin of eyelid", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "hypertrophic heart right ventricle", - "heart layer", - "Abnormal myocardium morphology", + "increased size of the cardiac ventricle", + "incomplete closing of the interventricular septum", + "Abnormality of thumb phalanx", + "increased size of the mesoderm-derived structure", + "cardiac septum morphology phenotype", + "right cardiac chamber phenotype", + "cardiac septum phenotype", + "increased size of the lateral structure", + "size of cardiac ventricle phenotype", + "interventricular septum morphology phenotype", + "heart right ventricle morphology phenotype", + "cardiac ventricle phenotype", + "septum phenotype", + "incomplete closing of the cardiac septum", + "cardiac chamber morphology in the heart phenotype", + "hypertrophic cardiac ventricle", + "cardiac chamber phenotype", + "septum", + "increased size of the cardiac chamber", + "incomplete closing of the septum", + "Intrauterine growth retardation", + "decreased functionality of the multicellular anatomical structure", + "mesoderm-derived structure physiology phenotype", + "anatomical entity dysfunction in independent continuant", + "decreased nervous system process", + "decreased functionality of the organ component layer", + "Abnormality of the abdominal wall", + "organ component layer physiology phenotype", + "heart layer phenotype", + "layer of muscle tissue phenotype", + "Abnormal choanae morphology", "layer of muscle tissue", - "abnormal myocardium morphology", - "abnormal abdominal wall", + "decreased functionality of the material anatomical entity", + "Hypertrophic cardiomyopathy", + "Abnormal myocardium morphology", + "decreased multicellular organism development", + "heart layer", + "decreased functionality of the anatomical entity", + "decreased multicellular organismal process", + "incomplete closing of the trunk blood vessel", + "material anatomical entity morphology in the heart phenotype", + "systemic artery phenotype", + "blood vessel phenotype", + "nervous system process phenotype", + "incomplete closing of the coronary vessel", + "coronary vessel morphology phenotype", + "mesoderm-derived structure morphology in the heart phenotype", + "incomplete closing of the heart blood vessel", + "incomplete closing of the systemic artery", + "incomplete closing of the ductus arteriosus", "embryonic cardiovascular system", - "heart vasculature", - "response to stimulus", - "ductus arteriosus", - "abnormal number of anatomical enitites of type myeloid cell", - "thoracic segment blood vessel", - "coronary vessel", - "abnormal coronary vessel morphology", "aplasia or hypoplasia of mandible", "trunk blood vessel", - "abnormal incomplete closing of the ductus arteriosus", + "trunk blood vessel phenotype", "vasculature of organ", - "abnormal female reproductive organ morphology", - "abnormally decreased functionality of the anatomical entity", "vasculature of trunk", "heart blood vessel", + "vessel phenotype", + "arterial blood vessel phenotype", + "heart vasculature", + "sensory perception of sound phenotype", + "response to stimulus", + "ductus arteriosus", + "incomplete closing of the artery", + "incomplete closing of the thoracic segment blood vessel", + "thoracic segment blood vessel", + "myeloid cell", + "incomplete closing of the blood vessel", + "anatomical entity morphology in the heart phenotype", "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", - "aorta", + "anatomical structure morphology in the heart phenotype", + "hematopoietic cell", + "semi-lunar valve", + "neuromuscular process phenotype", + "heart", + "aortic valve morphology phenotype", + "platelet phenotype", + "Abnormal heart morphology", + "Abnormal heart valve morphology", + "semi-lunar valve morphology phenotype", + "heart morphology phenotype", + "internal ear", + "heart left ventricle", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "cardiac valve", "bone of jaw", "aortic system", + "aortic valve", + "thoracic cavity blood vessel", "great vessel of heart", "Abnormal aortic morphology", - "shape longitudinal arch of pes", - "flattened anatomical entity", + "aorta morphology phenotype", + "decreased functionality of the anatomical structure", + "great vessel of heart morphology phenotype", + "aorta", + "decreased number of material anatomical entity in the multicellular organism", "longitudinal arch of pes", - "flattened anatomical entity in independent continuant", "Pes planus", "flat anatomical entity", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "trunk region element physiology phenotype", "Toe syndactyly", - "abnormally fused anatomical entity and pedal digit", - "abnormal shape of frontal cortex", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal head bone morphology", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", + "fused anatomical entity and pedal digit", + "incomplete closing of the anatomical wall", + "pedal digit phenotype", + "anatomical entity morphology in the pelvic complex phenotype", + "platelet", + "Growth abnormality", + "multicellular organism mass phenotype", + "growth", + "radius bone", + "growth phenotype", + "Weight loss", + "obsolete cell", + "material anatomical entity mass phenotype", + "Decreased body weight", + "Abnormality of body weight", + "incomplete closing of the arterial blood vessel", + "decreased material anatomical entity mass", + "anatomical structure mass phenotype", + "decreased multicellular anatomical structure mass", + "Abnormal calvaria morphology", + "frontal cortex morphology phenotype", + "neurocranium morphology phenotype", + "olfactory system morphology phenotype", + "cranium morphology phenotype", "Puberty and gonadal disorders", "central nervous system cell part cluster", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", "lobe of cerebral hemisphere", - "cerebral hemisphere", - "manual digit 1 plus metapodial segment", - "abnormal cerebral hemisphere morphology", - "vault of skull", - "female reproductive system", - "dermal skeleton", + "shape of frontal cortex phenotype", "primary subdivision of skull", - "primary subdivision of cranial skeletal system", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", - "Hearing impairment", - "abnormal neurocranium morphology", + "cranium", + "frontal cortex", "gray matter", "dermal bone", "aplasia or hypoplasia of skull", "frontal lobe", "pallium", - "abnormal vault of skull", - "Abnormality of the forehead", + "prominent forehead", + "brain gray matter phenotype", "forehead", - "abnormal frontal cortex morphology", "tetrapod frontal bone", + "neurocranium bone", + "gray matter of forebrain phenotype", + "decreased number of cell", + "gray matter phenotype", + "cortex of cerebral lobe", + "primary subdivision of cranial skeletal system", + "vault of skull", + "cardiovascular system physiology phenotype", + "prominent anatomical entity", "neurocranium", - "abnormal great vessel of heart morphology", - "frontal cortex", - "abnormal forehead", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", - "abnormal anus", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "skeleton of lower jaw", - "abnormal small intestine", - "abnormal nose morphology", - "abnormal eyelid morphology", - "manus", - "dermatocranium", - "Abnormal axial skeleton morphology", - "neural tube", - "presumptive structure", - "vertebra", - "abnormal ileum morphology", - "neural tube closure", - "cranium", + "bone of craniocervical region", + "cranial bone", + "intramembranous bone", + "membrane bone", + "heart plus pericardium", + "gray matter of forebrain", + "anus", + "closing of the multicellular anatomical structure", + "material anatomical entity atresia", + "jaw skeleton morphology phenotype", + "multicellular anatomical structure atresia", + "closing of the anatomical structure", + "anus morphology phenotype", + "bone marrow", + "anus atresia", + "anus phenotype", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "closing of the ectoderm-derived structure", + "Abnormal ileum morphology", + "parasympathetic nervous system", + "large intestine morphology phenotype", + "autonomic nervous system", + "Abnormal peripheral nervous system ganglion morphology", + "Abnormal autonomic nervous system morphology", + "ganglion of peripheral nervous system", + "Abnormal large intestine morphology", + "interatrial septum morphology phenotype", + "Abnormality of the autonomic nervous system", + "haemolymphatic fluid", + "ganglion morphology phenotype", + "enteric nervous system", + "Aganglionic megacolon", + "enteric ganglion", + "Megacolon", + "lower digestive tract", + "Abnormal ganglion morphology", + "stylopod", + "late embryo phenotype", + "valve", + "Abnormal femur morphology", + "decreased qualitatively pigmentation", + "increased length of the head or neck skin", + "innominate bone", + "hip joint morphology phenotype", + "Aplasia/Hypoplasia of the radius", + "protruding anatomical entity", + "Abnormal pelvic girdle bone morphology", + "pelvic region of trunk", + "hip", + "appendage girdle region", + "girdle skeleton", "trunk bone", - "Aplasia/hypoplasia involving bones of the extremities", - "entire sense organ system", - "abnormal response to stimulus", - "embryo development ending in birth or egg hatching", + "Lower extremity joint dislocation", + "Abnormal hip bone morphology", + "skeletal joint morphology phenotype", + "heart layer morphology phenotype", + "hip dislocation", + "skeletal joint phenotype", + "synovial joint morphology phenotype", + "girdle bone/zone", + "decreased number of material anatomical entity", + "articular system", + "Hip dislocation", + "outflow part of left ventricle morphology phenotype", "vertebral column", - "Abnormality of the vasculature", + "tube closure phenotype", + "ileum", + "embryonic tissue", + "forehead phenotype", + "neural tube closure", + "dermatocranium", + "Abnormal axial skeleton morphology", "Vertebral arch anomaly", - "face", - "aplasia or hypoplasia of manual digit", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "abnormal neural tube morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal heart valve morphology", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", - "abnormal vertebral column", - "abnormal spinal cord morphology", - "Aganglionic megacolon", - "tube formation", + "increased number of brain ventricle in the cerebrospinal fluid", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "incomplete closing of the material anatomical entity", + "anatomical structure morphogenesis", + "Abnormal ear physiology", + "ecto-epithelium", + "Abnormality of the vasculature", + "incomplete closing of the anatomical entity", + "postcranial axial skeleton", + "localised multicellular anatomical structure", "anatomical structure formation involved in morphogenesis", - "abnormal aortic valve morphology", - "Abnormality of the inner ear", - "abnormal vertebral column morphology", - "abnormal common carotid artery plus branches morphology", - "Abnormal anus morphology", - "abnormal anatomical entity mass density", - "abnormal systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "epithelium development", - "abnormal head", - "artery", - "jaw region", - "arterial system", - "Decreased bone element mass density", - "Abnormal cranial nerve physiology", + "tube formation", + "eyelid morphology phenotype", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "incomplete closing of the vessel", + "presumptive structure", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "entire sense organ system", + "formed organ part", + "bony vertebral centrum", "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", "Clubbing", + "head bone", + "shape digit", + "peripheral nervous system morphology phenotype", + "Abnormal spinal cord morphology", + "nerve phenotype", + "developmental process", + "increased size of the heart right ventricle", + "nervous system morphology phenotype", + "ectoderm-derived structure physiology phenotype", + "manual digit 1 or 5", + "abdominal segment bone", + "Cranial nerve paralysis", + "increased number of multicellular anatomical structure", "Spinal dysraphism", - "decreased qualitatively pigmentation", - "decreased multicellular organism mass", - "innominate bone", "Frontal bossing", "nerve", - "gray matter of forebrain", - "heart plus pericardium", - "Abnormality of the orbital region", - "roof of mouth", - "Pulmonic stenosis", - "Abnormal peripheral nervous system morphology", - "Atypical behavior", - "Abnormal upper limb bone morphology", - "chemosensory system", - "abnormally decreased number of anatomical entity", - "paralysed cranial nerve", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "neural tube formation", - "postcranial axial skeletal system", - "Clubbing of toes", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "skeletal system", - "curved anatomical entity in independent continuant", - "hindlimb skeleton", - "endochondral bone", - "subdivision of skeleton", + "esophagus morphology phenotype", + "cranial nerve", + "internal naris atresia", + "musculature of body", + "nerve of head region", + "phenotype", + "anatomical space", + "pelvic appendage", + "body part movement", + "cranial nerve phenotype", + "artery phenotype", + "autopodial extension", + "Abnormal cranial nerve physiology", "appendage girdle complex", - "subdivision of head", - "ulna endochondral element", - "abnormal shape of cornea", - "abnormal forebrain morphology", + "Abnormal limb bone morphology", + "reproductive process", + "kidney phenotype", + "limb morphology phenotype", + "cognition", + "leukocyte morphology phenotype", + "skeletal element phenotype", + "nerve of head region phenotype", + "decreased functionality of the myocardium", + "limb bone phenotype", + "face", + "multicellular anatomical structure mass phenotype", + "aplasia or hypoplasia of manual digit", + "bone of pectoral complex morphology phenotype", + "increased number of brain ventricle/choroid plexus", + "vertebral column phenotype", + "Hernia of the abdominal wall", + "autopodial extension phenotype", + "Abnormal forearm bone morphology", + "forelimb zeugopod morphology phenotype", "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "Abnormal morphology of ulna", + "femur", + "skull", + "cerebral hemisphere", + "bone of pectoral complex phenotype", + "vault of skull phenotype", + "epithelium development", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "cerebral hemisphere gray matter", + "skin of body", + "Abnormal peripheral nervous system morphology", + "arm bone phenotype", + "olfactory organ phenotype", + "multi-limb segment region phenotype", + "Nystagmus", + "esophagus", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "endochondral element phenotype", + "forelimb bone phenotype", + "bone element", + "decreased reproductive process", + "skeletal element", + "zeugopod", + "system development", "pectoral appendage", "deviation of manual digit 5 towards the middle", - "abnormal opening of the anatomical entity", - "bone element", - "Abnormality of limbs", - "abnormal number of anatomical enitites of type platelet", - "abnormal forelimb zeugopod morphology", - "Abnormal forebrain morphology", + "bony vertebral centrum morphology phenotype", + "Abnormality of the upper limb", + "reproductive system morphology phenotype", + "olfactory system", + "Neoplasm by anatomical site", + "limb", + "increased size of the material anatomical entity", + "respiratory system", + "hip joint", + "Small intestinal stenosis", + "flat longitudinal arch of pes", + "neuron projection bundle phenotype", + "Abnormal morphology of ulna", + "multicellular organismal reproductive process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "pectoral appendage skeleton", + "alimentary part of gastrointestinal system phenotype", + "ulna endochondral element", + "localised gonad", "paired limb/fin", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "septum", - "Abnormality of limb bone morphology", - "developing anatomical structure", - "skeleton of limb", - "forelimb zeugopod skeleton", - "prepuce", - "subdivision of oviduct", - "limb bone", - "pectoral appendage skeleton", - "Abnormal forearm bone morphology", - "morphogenesis of an epithelium", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "abnormal digestive system morphology", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "spinal cord", - "appendicular skeleton", - "zeugopod", - "skeletal element", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Abnormal long bone morphology", - "absent sperm in the semen", - "vasculature", - "Spina bifida", - "circulatory system", - "embryonic morphogenesis", - "abnormal liver", + "incomplete closing of the skeletal element", + "absent sperm", + "subdivision of skeleton", + "shape of forehead phenotype", + "endochondral bone", + "decreased number of anatomical entity", + "Abnormal forebrain morphology", + "Abnormal forearm morphology", + "vertebra", + "multicellular organism height phenotype", + "forelimb long bone", + "vertebral element", + "pelvic region element phenotype", + "viscus", + "reproductive organ phenotype", + "decreased size of the skeletal element", + "bone of free limb or fin", + "arch of centrum of vertebra phenotype", + "limb endochondral element", + "neural tube formation", + "neuron projection bundle", + "digestive system gland phenotype", + "increased length of the skin of eyelid", + "internal male genitalia phenotype", + "Abnormal appendicular skeleton morphology", + "paired limb/fin phenotype", + "Abnormal internal genitalia", + "localised testis", + "decreased qualitatively sensory perception of light stimulus", + "forelimb morphology phenotype", + "Myelodysplasia", "Abnormal blood vessel morphology", - "decreased pigmentation in independent continuant", - "tissue development", - "venous blood vessel", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal blood vessel morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal embryo morphology", - "Abnormal venous morphology", + "parasympathetic ganglion", + "formed ectoderm-derived structure", + "decreased size of the arm bone", + "cardiovascular system phenotype", + "anatomical cluster phenotype", + "blood", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "cortex of cerebral lobe", - "abnormal vascular system morphology", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", - "cardiovascular system", - "blood vasculature", - "tube development", "acropodium region", + "coronary vessel", + "cranial nerve physiology phenotype", + "ventricle of nervous system", + "paralysed anatomical entity", + "multi-limb segment region", "blood vessel", - "germ cell", + "compound organ", + "eye", + "venous system", "outflow tract", - "abnormal vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", - "penis", - "Orofacial cleft", - "digestive system element", - "intromittent organ", - "vein", - "multi cell part structure", - "abnormal prepuce of penis morphology", - "myocardium", - "external ear", - "abnormal telencephalon morphology", + "germ cell", + "Abnormal long bone morphology", + "vasculature", + "upper urinary tract phenotype", "Abnormal jaw morphology", "Meckel diverticulum", "irregular bone", "organism", "secondary palate", - "autopod bone", - "Neurodevelopmental abnormality", - "manual digit phalanx endochondral element", - "Abnormality of the immune system", - "abnormal skin of head morphology", - "abnormal neural tube closure", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "nervous system process", + "male reproductive organ morphology phenotype", "skeleton of digitopodium", + "myeloid cell homeostasis", + "glans penis", + "synovial joint of pelvic girdle morphology phenotype", "Abnormal preputium morphology", - "forelimb bone", - "Abnormal uvula morphology", - "abnormal central nervous system morphology", - "ventricular system of central nervous system", + "penis morphology phenotype", + "immune system phenotype", + "digit phenotype", + "mouth phenotype", + "Abnormality of limbs", + "craniocervical region phenotype", + "cornea morphology phenotype", + "leg bone", + "Abnormal skin morphology", + "multi-tissue structure phenotype", + "opaque anatomical entity", + "decreased anatomical structure mass", + "forelimb zeugopod bone phenotype", + "pigmentation", + "developing anatomical structure", + "skeleton of limb", + "Abnormality of skin pigmentation", + "female reproductive system", + "dermal skeleton", + "phenotypic effect", + "aplasia or hypoplasia of iris", + "pigmentation phenotype", + "heart left ventricle morphology phenotype", + "individual digit of digitopodial skeleton", + "Umbilical hernia", + "Arteriovenous malformation", + "increased size of the multi-tissue structure", + "head bone morphology phenotype", + "Abnormal eye morphology", + "incomplete closing of the secondary palate", + "increased length of the material anatomical entity", + "subdivision of skeletal system phenotype", + "integument", + "Abnormal connection of the cardiac segments", + "leg phenotype", + "cardiac atrium", + "Abnormality of the integument", + "genitourinary system phenotype", + "Abnormality of the forehead", + "mouth morphology phenotype", + "multicellular organismal process", + "bone of pelvic complex", + "system process", + "sensory perception", + "number of anatomical enitites of type anatomical entity phenotype", + "Neurodevelopmental abnormality", + "nervous system physiology phenotype", + "process", "Abnormal shape of the frontal region", "central nervous system", - "abnormal arm", "Abnormality of limb bone", "autopod endochondral element", - "cognition", - "ventricular system of brain", "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", + "mandible phenotype", + "autonomic ganglion", + "axial skeletal system", + "brain", + "ventricular system of central nervous system", + "neural crest-derived structure, curved phenotype", + "number of anatomical enitites of type organ part phenotype", + "musculature phenotype", + "reproductive system physiology phenotype", + "myeloid cell differentiation", + "increased number of organ part", + "decreased biological_process in skin of body", + "alimentary part of gastrointestinal system morphology phenotype", + "eyeball of camera-type eye", "decreased length of forelimb zeugopod bone", - "abnormally increased number of anatomical entity", - "Facial asymmetry", - "Abnormal leukocyte count", - "anatomical entity dysfunction in independent continuant", - "abnormal brain morphology", - "abnormal heart layer morphology", - "Abnormal frontal bone morphology", - "Abnormality of lower limb joint", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "cerebrospinal fluid", - "Abnormal cardiovascular system physiology", + "digit 1 plus metapodial segment", + "Abnormality of the anus", + "cerebrospinal fluid morphology phenotype", + "synovial joint", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "increased number of anatomical entity in the cerebrospinal fluid", + "facial bone", + "increased number of brain ventricle", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "size of heart right ventricle phenotype", + "Abnormality of the urinary system", + "incomplete closing of the neural crest-derived structure", "Abnormal cerebrospinal fluid morphology", - "Hydrocephalus", - "Neural tube defect", - "organ system subdivision", - "abnormal nervous system morphology", - "forelimb zeugopod bone", - "Abnormal toe phalanx morphology", - "arch of centrum of vertebra", - "abnormality of internal male genitalia physiology", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal nervous system", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "Abnormal nervous system morphology", - "sense organ", - "material entity", - "increased reflex", - "long bone", - "internal male genitalia", - "curved anatomical entity", - "digestive system", - "decreased length of long bone", - "abnormal anatomical entity morphology in the brain", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "anatomical line between pupils", - "abnormal neocortex morphology", - "decreased biological_process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal heart morphology", - "appendage girdle region", - "dorsum", - "cranial nerve", - "testis", - "anatomical system", - "upper digestive tract", - "Small intestinal stenosis", - "male gamete generation", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "Abnormality of blood and blood-forming tissues", - "abnormality of multicellular organism height", - "abnormal limb morphology", - "upper urinary tract", - "right cardiac chamber", - "manual digitopodium region", - "abnormal enteric nervous system morphology", - "Abnormality of male external genitalia", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal voluntary movement behavior", - "tissue", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "abnormal amniotic fluid", - "system process", - "male gamete", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "embryo", - "Absent testis", - "abnormal limb bone", - "anatomical structure morphogenesis", - "Aplasia/Hypoplasia affecting the uvea", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "vessel", + "external soft tissue zone", + "Abnormal mandible morphology", + "skeletal system phenotype", + "male gamete generation phenotype", + "digit plus metapodial segment", + "head", + "internal genitalia phenotype", + "bone of appendage girdle complex phenotype", + "Abnormal esophagus morphology", + "increased number of anatomical structure in the cerebrospinal fluid", + "organism subdivision", + "multicellular organismal-level homeostasis", + "chordate embryonic development", + "anterior segment of eyeball", + "Abnormal morphology of the great vessels", + "pectoral complex", + "Abnormality of the peripheral nervous system", + "trunk region element", + "endoderm-derived structure", "lateral structure", - "abnormal blood cell morphology", - "abnormal cell", + "Orofacial cleft", + "digestive system element", + "Abnormal digestive system morphology", + "Tracheoesophageal fistula", + "spinal cord morphology phenotype", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "nervous system process", + "limb bone morphology phenotype", + "Aplasia/Hypoplasia affecting the eye", + "Abnormal gastrointestinal tract morphology", + "embryonic morphogenesis", + "phalanx of pes morphology phenotype", + "body proper", + "opening of the anatomical entity", + "cell phenotype", + "tracheobronchial tree morphology phenotype", + "subdivision of organism along main body axis phenotype", + "tunica fibrosa of eyeball", + "anatomical structure physiology phenotype", + "mesoderm-derived structure phenotype", + "appendage", + "Abnormal facial shape", + "location of anatomical entity phenotype", + "tube morphogenesis", + "camera-type eye morphology phenotype", + "brain gray matter", + "embryo development", + "Abnormal tracheobronchial morphology", + "eukaryotic cell", + "Abnormal brain morphology", + "size of brain ventricle phenotype", + "limb phenotype", + "Abnormal anterior eye segment morphology", + "organ subunit", + "absent sperm in the semen", + "increased number of material anatomical entity in the cerebrospinal fluid", + "connective tissue phenotype", + "increased biological_process", + "digestive tract", + "face morphology phenotype", + "Abnormal external genitalia", + "arm phenotype", + "digestive system phenotype", + "Abnormal respiratory system physiology", + "reproductive structure physiology phenotype", + "Short stature", + "Abnormality of the vertebral column", + "reproductive organ physiology phenotype", + "anatomical structure formation involved in morphogenesis phenotype", "male reproductive organ", + "sensory perception of mechanical stimulus phenotype", + "internal naris phenotype", "disconnected anatomical group", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "Anal atresia", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "anterior region of body", - "Abnormality of the upper limb", - "entity", - "Decreased anatomical entity mass", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "All", - "Abnormal bone structure", - "system development", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "manual digit", - "abnormal reproductive process", - "abnormal shape of continuant", - "pulmonary valve", - "cellular organisms", - "vertebral element", - "viscus", - "bone of free limb or fin", - "abnormal pedal digit morphology", - "abnormal ear", - "Abnormal external genitalia", - "material anatomical entity", - "abnormal internal naris", - "Cranial nerve paralysis", - "developmental process", - "abnormal ureter", - "absent anatomical entity in the independent continuant", - "manual digit 1 or 5", - "abdominal segment bone", - "gonad", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "ganglion", - "sensory system", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "absent sperm in the independent continuant", - "pelvic region element", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "abnormal internal genitalia", - "ocular surface region", - "internal genitalia", - "limb", - "respiratory system", - "hip joint", - "cell", - "abnormal interventricular septum morphology", - "Abnormality of the mouth", - "abnormal ductus arteriosus morphology", - "Finger syndactyly", - "abnormal peripheral nervous system morphology", - "bodily fluid", - "multi-tissue structure", - "abnormal ear morphology", - "abnormal number of anatomical enitites of type sperm", - "hepatobiliary system", - "subdivision of skeletal system", + "cerebral cortex", + "tracheobronchial tree", + "decreased size of the forelimb bone", + "tube development", + "multicellular anatomical structure phenotype", + "Abnormal toe morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "Abnormality of the urethra", + "immaterial entity", + "Abnormal systemic arterial morphology", + "renal system", + "peripheral nervous system", + "Abnormal anterior chamber morphology", + "zeugopodial skeleton", + "head morphology phenotype", + "forelimb skeleton", + "immune system", + "endocrine system", + "sense organ physiology phenotype", + "ear physiology phenotype", + "uterus morphology phenotype", + "Abnormal neural tube morphology", + "Abnormal enteric ganglion morphology", + "excretory system", + "craniocervical region morphology phenotype", + "tube", + "increased number of ventricle of nervous system", + "male reproductive system", + "forelimb endochondral element", + "physiologic nystagmus", + "hemolymphoid system", + "organ subunit phenotype", + "respiratory tract", + "amniotic fluid phenotype", + "respiratory tube", + "glans", + "erythrocyte", + "anatomical entity physiology phenotype", + "developmental process phenotype", + "limb endochondral element phenotype", + "blood vasculature", + "ectoderm-derived structure, asymmetrically curved phenotype", + "increased reflex", + "long bone", + "material entity", + "cardiovascular system", + "number of sperm phenotype", + "skin of body phenotype", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "decreased length of limb bone", + "structure with developmental contribution from neural crest", + "intromittent organ phenotype", + "Abnormal cerebral ventricle morphology", + "pelvic girdle bone/zone morphology phenotype", + "Neural tube defect", + "prepuce", + "decreased male gamete generation", + "organ system subdivision", + "Syndactyly", + "skeletal system morphology phenotype", + "increased number of ventricle of nervous system in the cerebrospinal fluid", + "Abnormal peripheral nerve morphology by anatomical site", + "independent continuant", + "anatomical line between pupils", + "reproductive system", + "thoracic cavity element", + "skeleton", + "multicellular organism", + "Abnormality of the orbital region", + "decreased size of the limb endochondral element", + "roof of mouth", + "neural tube development", + "external genitalia", + "camera-type eye", + "decreased number of myeloid cell", + "Abnormality of mental function", + "external male genitalia phenotype", + "increased number of organ component layer in the cerebrospinal fluid", + "forelimb zeugopod bone", + "head phenotype", + "vascular system morphology phenotype", + "Abnormal digit morphology", + "penis phenotype", + "structure with developmental contribution from neural crest physiology phenotype", "bone of pectoral complex", "decreased length of anatomical entity", - "Abnormal ganglion morphology", + "anatomical entity mass phenotype", + "Decreased anatomical entity mass", + "entity", + "Abnormal form of the vertebral bodies", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "gray matter of telencephalon", + "urethral meatus", "dorsal region element", "Abnormality of the cardiovascular system", - "Abnormal right ventricle morphology", + "central nervous system gray matter layer", + "pedal digit bone", + "increased length of the non-material anatomical boundary", + "chamber of eyeball", "Clinodactyly", - "exocrine system", - "Abnormality of the genitourinary system", - "shape digit", - "head bone", - "absent germ cell", - "Abnormal heart valve physiology", - "changed biological_process rate", - "Abnormality of the outer ear", - "abnormal gamete", + "palatine uvula", + "reproductive structure phenotype", "quality", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal systemic arterial morphology", - "spermatogenesis", - "abnormal shape of palpebral fissure", - "delayed biological_process", - "systemic artery", - "developmental process involved in reproduction", - "Abnormality of the nose", - "organism substance", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "neural tube development", - "external genitalia", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "hematopoietic system", - "multicellular anatomical structure", - "abnormal leukocyte morphology", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormal heart morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "Abnormal spinal cord morphology", - "neuron projection bundle", - "Abnormal esophagus morphology", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "abnormal bone element mass density", - "main body axis", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal cardiac atrium morphology in the heart", - "morphogenesis of embryonic epithelium", - "haploid cell", - "conceptus", - "abnormal vertebra morphology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "epithelial tube morphogenesis", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "abnormal male reproductive organ morphology", + "central nervous system cell part cluster phenotype", + "anatomical collection phenotype", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Abnormal leukocyte morphology", + "axial skeleton plus cranial skeleton", + "increased length of the skin of face", + "decreased size of the limb bone", + "central nervous system morphology phenotype", + "shape of external ear phenotype", + "anatomical conduit phenotype", + "skeleton of lower jaw", + "common carotid artery plus branches morphology phenotype", + "eyelid", + "endochondral bone phenotype", + "Abnormality of the ear", + "decreased qualitatively developmental process involved in reproduction", + "Abnormal male urethral meatus morphology", + "reproductive structure", + "epithelial tube", + "decreased height of the anatomical entity", + "decreased developmental process involved in reproduction", + "Abnormality of the eye", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "decreased anatomical structure development", + "anatomical structure phenotype", + "anatomical system", + "upper digestive tract", + "sense organ phenotype", + "multicellular anatomical structure morphology in the heart phenotype", + "Abnormality of reproductive system physiology", + "appendicular skeleton morphology phenotype", "occurrent", "pedal digit phalanx endochondral element", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", + "organ", + "pedal digit plus metapodial segment", "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormal small intestine morphology", - "Azoospermia", - "platelet", - "Growth abnormality", - "hip", - "primary neural tube formation", - "renal pelvis/ureter", - "male urethral meatus", - "reproductive organ", - "anus atresia", - "abnormal skull morphology", - "Short long bone", - "Ventricular septal defect", - "small intestine", - "subdivision of organism along main body axis", - "prominent forehead", - "abnormal incomplete closing of the arch of centrum of vertebra", - "segment of manus", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "aplasia or hypoplasia of anatomical entity", - "limb long bone", - "compound organ", - "eye", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "external male genitalia", - "Hypogonadism", - "urethral opening", - "arm bone", - "Abnormal reflex", - "hindlimb joint", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", + "multicellular anatomical structure physiology phenotype", + "increased number of organ component layer", + "nervous system", + "anatomical projection phenotype", + "anatomical system physiology phenotype", + "Displacement of the urethral meatus", + "organ part physiology phenotype", + "skin of body morphology phenotype", + "voluntary musculoskeletal movement phenotype", + "brain ventricle phenotype", + "material anatomical entity", + "Abnormality of immune system physiology", + "localised anatomical entity", + "organ system subdivision phenotype", + "simple eye phenotype", + "homeostatic process phenotype", + "behavior", + "abdomen element", + "protruding eyeball of camera-type eye", + "embryonic epithelial tube formation", + "respiratory airway", + "subdivision of trunk", + "multicellular organismal movement", + "fused anatomical entity and anatomical entity", + "neural tube", + "male urethra", + "organ part", + "Decreased bone element mass density", + "material anatomical entity phenotype", "Short palpebral fissure", + "umbilicus morphology phenotype", "Abnormal skeletal morphology", "increased pigmentation", + "Abnormality of the genital system", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "shape of continuant phenotype", + "deviation of digit towards the middle", + "lower urinary tract", + "Abnormality of globe location", + "jaw region", + "artery", + "telencephalon phenotype", + "curved anatomical entity", + "anatomical entity morphology phenotype", + "decreased length of long bone", + "subdivision of organism along appendicular axis", + "decreased length of endochondral element", + "Abnormal cell morphology", + "Abnormal palate morphology", + "articulation", + "cornea, curved phenotype", + "mesoderm-derived structure", + "autopod bone", + "system", + "anatomical structure, curved phenotype", + "brain morphology phenotype", + "subdivision of head", + "increased number of ectoderm-derived structure", + "musculoskeletal movement phenotype", + "anterior chamber of eyeball morphology phenotype", + "transparent eye structure", + "dentary", + "behavior process phenotype", + "femur endochondral element", + "organ component layer phenotype", + "subdivision of tube", + "Abnormality of the inner ear", + "vertebra morphology phenotype", + "Decreased fertility in males", + "taxon specific phenotype", + "anatomical structure", + "subdivision of oviduct", + "limb bone", + "subdivision of digestive tract phenotype", + "cerebral cortex morphology phenotype", + "urethra phenotype", + "Abnormality of the lower urinary tract", + "Hypogonadism", + "urethral opening", + "arm bone", "skeleton of pectoral complex", "specifically dependent continuant", - "abnormal autonomic nervous system morphology", - "ganglion of peripheral nervous system", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", - "Abnormal ear physiology", - "ecto-epithelium", - "abnormal closing of the anatomical entity", - "reproductive structure", - "tunica fibrosa of eyeball", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "upper limb segment", - "biological_process", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "absent gamete", - "naris", - "iris", - "abnormal number of anatomical enitites of type anatomical entity", - "organ", - "pedal digit plus metapodial segment", - "reproduction", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "Abnormality of the peripheral nervous system", - "trunk region element", - "cerebral cortex", - "tracheobronchial tree", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "abnormal synovial joint morphology", - "reproductive system", - "multi-limb segment region", - "ventricle of nervous system", - "paralysed anatomical entity", - "pelvic appendage", - "abnormal eyeball of camera-type eye", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "body proper", - "abnormal respiratory tube morphology", - "Abnormal morphology of female internal genitalia", - "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", - "process", - "vestibulo-auditory system", - "anterior uvea", - "abnormality of camera-type eye physiology", - "organism subdivision", - "Dolichocephaly", - "common carotid artery plus branches", - "drooping eyelid", - "Abnormal cardiac ventricle morphology", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", - "external soft tissue zone", - "digit plus metapodial segment", - "head", - "abnormal reproductive system", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "ileum", - "embryonic tissue", - "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "Syndactyly", - "abnormal head morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Sloping forehead", - "abnormal manual digit 5 morphology", - "non-connected functional system", - "digestive tract", - "subdivision of digestive tract", - "Abnormal pinna morphology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "abnormality of cranial nerve physiology", - "independent continuant", - "abnormal pigmentation", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "Abnormal ear morphology", - "Abnormal morphology of the great vessels", - "pectoral complex", - "venous system", + "decreased length of arm bone", + "increased size of the zone of skin", + "cornea phenotype", + "formed chamber of eyeball", + "Decreased head circumference", + "anatomical entity", + "localised material anatomical entity", + "ear phenotype", "musculoskeletal movement", "decreased qualitatively biological_process", - "anatomical entity", - "abnormal trachea morphology", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "behavior process", - "anterior chamber of eyeball", - "abnormal development of anatomical entity", - "increased biological_process", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "embryonic epithelial tube formation", - "respiratory airway", - "abnormal secondary palate morphology", - "subdivision of tube", - "Abnormal respiratory system morphology", - "Abnormal lens morphology", - "Multiple cafe-au-lait spots", - "system", - "transparent eye structure", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", - "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", - "brain gray matter", - "embryo development", - "Abnormal tracheobronchial morphology", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormal postcranial axial skeleton morphology", - "multicellular organismal-level homeostasis", - "chordate embryonic development", - "anterior segment of eyeball", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal palpebral fissure", - "abnormal tube formation", - "thoracic segment of trunk", - "pes bone", - "abnormal bone of pelvic complex morphology", - "arm", - "Short stature", - "Abnormality of the vertebral column", - "abnormal digestive system", - "flat longitudinal arch of pes", - "abnormal bone of pectoral complex morphology", - "orifice", - "craniocervical region", - "abnormal developmental process", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", - "Nystagmus", - "esophagus", - "physiologic nystagmus", - "hemolymphoid system", - "Lower extremity joint dislocation", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "Hip dislocation", - "skeleton", - "multicellular organism", - "thoracic cavity element", - "Abnormal penis morphology", + "increased volume of anatomical entity", + "forelimb bone", + "Abnormal uvula morphology", + "endochondral element", + "anatomical entity hypoplasia", "Intellectual disability", - "abnormal ocular adnexa", "embryonic structure", + "endoderm-derived structure phenotype", "brain ventricle/choroid plexus", "proximo-distal subdivision of respiratory tract", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "organ subunit", - "Abnormal neural tube morphology", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of the testes", - "left cardiac chamber", - "Slanting of the palpebral fissure", - "Abnormal anterior eye segment morphology", + "Abnormal penis morphology", + "appendage phenotype", + "Hypoplastic facial bones", + "organism subdivision phenotype", + "arm", + "forelimb zeugopod skeleton", + "male reproductive organ phenotype", + "ocular surface region", + "thoracic segment of trunk", + "bone of jaw phenotype", + "number of anatomical enitites of type material anatomical entity phenotype", + "tetrapod frontal bone morphology phenotype", + "pes bone", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "Abnormality of the respiratory system", + "segment of autopod", + "ductus arteriosus morphology phenotype", + "increased pigmentation in skin of body", + "cranial neuron projection bundle phenotype", + "Abnormal male reproductive system physiology", + "reproductive organ", + "Abnormality of the digestive system", + "anatomical structure development", + "arterial blood vessel", + "decreased spermatogenesis", + "limb segment", + "external genitalia phenotype", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "size of palpebral fissure phenotype", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "Abnormal curvature of the vertebral column", + "multi cell part structure phenotype", + "ureter phenotype", + "hematopoietic system", + "multicellular anatomical structure", + "reproductive system phenotype", + "hindlimb endochondral element", + "ventricular system of brain", + "innominate bone morphology phenotype", + "eye phenotype", + "structure with developmental contribution from neural crest phenotype", + "Abnormal vertebral morphology", + "Abnormal male external genitalia morphology", + "localised reproductive organ", + "glandular system", + "myocardium", + "external ear", + "decreased length of bone of appendage girdle complex", + "bone of appendage girdle complex", + "anatomical wall", + "closing of the material anatomical entity", + "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid", + "sensory system", + "Scoliosis", + "multicellular anatomical structure, curved phenotype", + "Almond-shaped palpebral fissure", + "response to stimulus phenotype", + "Abdominal wall defect", + "material anatomical entity physiology phenotype", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "cerebrospinal fluid", + "main body axis", + "tissue development", + "venous blood vessel", + "camera-type eye phenotype", + "physiologic nystagmus phenotype", + "increased size of the immaterial anatomical entity", + "manus", + "chemosensory system", + "organ physiology phenotype", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "renal system phenotype", + "bone marrow cell", + "multicellular organism phenotype", + "upper limb segment", + "biological_process", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "camera-type eye physiology phenotype", + "blood vessel morphology phenotype", + "zone of skin morphology phenotype", + "ganglion", + "subdivision of head phenotype", + "Abnormality of the curvature of the cornea", + "cell", + "Abnormality of the mouth", + "Finger syndactyly", + "lower respiratory tract", + "visual system", + "uvea morphology phenotype", + "bone of craniocervical region phenotype", + "structure with developmental contribution from neural crest, curved phenotype", + "renal system physiology phenotype", + "multicellular organism morphology phenotype", + "anatomical structure, asymmetrically curved phenotype", + "Hypermelanotic macule", + "simple eye", + "Abnormality of the skeletal system", + "zone of organ phenotype", + "trachea", + "Deviation of finger", + "subdivision of digestive tract", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "number of anatomical enitites of type organ component layer phenotype", + "Abnormal lens morphology", + "simple eye physiology phenotype", + "Anal atresia", + "anatomical conduit", + "Abnormality of the head", + "Abnormal enteric nervous system morphology", + "future central nervous system", + "absent anatomical structure in the multicellular organism", + "craniofacial/craniocervical phenotype", + "fused pedal digit and pedal digit", + "ocular surface region morphology phenotype", + "decreased length of anatomical structure", "cornea", "abdominal wall", "3-D shape anatomical entity", + "external male genitalia", + "brain ventricle/choroid plexus morphology phenotype", + "orifice", "shape cornea", - "lower respiratory tract", - "visual system", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "Abnormality of the ear", - "eyelid", - "abnormally decreased number of leukocyte", + "multicellular organism development phenotype", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal vascular morphology", + "Abnormality of skull size", + "decreased length of bone of pectoral complex", + "ventricle of nervous system phenotype", + "increased number of anatomical structure", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormality of body height", + "decreased size of the mesoderm-derived structure", + "neural crest-derived structure, asymmetrically curved phenotype", + "non-material anatomical boundary", + "Abnormality of head or neck", + "cardiac chamber", + "eye physiology phenotype", + "lower urinary tract phenotype", + "non-connected functional system", + "increased number of anatomical entity", + "increased height of the neural crest-derived structure", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "anatomical system phenotype", + "incomplete closing of the abdominal wall", + "Clinodactyly of the 5th finger", + "sense organ", "orbital region", - "abnormal alimentary part of gastrointestinal system", - "Abnormal carotid artery morphology", - "Astigmatism", - "pelvic girdle region", - "paired limb/fin segment", - "multicellular organism development", - "Ventriculomegaly", - "abnormal posterior nasal aperture morphology", - "curvature anatomical entity", - "abnormal camera-type eye morphology", - "abnormal orbital region", - "abnormal bony vertebral centrum morphology", - "simple eye", - "anus", - "Abnormal skull morphology", - "sensory perception", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Weight loss", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "growth", - "cardiac valve", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Decreased body weight", - "autopodial extension", - "abnormal forelimb zeugopod bone", - "valve", - "endochondral element", - "anatomical entity hypoplasia", - "abnormal cardiac ventricle morphology", - "motile cell", - "abnormal leg", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "internal ear", - "heart left ventricle", - "epithelium", - "autopodial skeleton", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "Opisthokonta", - "Abnormality of digestive system morphology", - "Abnormality of the ocular adnexa", + "hypertrophic heart right ventricle", + "vasculature phenotype", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "anterior segment of eyeball morphology phenotype", + "face phenotype", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "curvature anatomical entity", + "increased number of material anatomical entity", + "skeletal system", + "hindlimb skeleton", + "protein-containing material entity", + "anatomical entity phenotype", + "gamete generation", + "organ part phenotype", + "male organism", + "fused pedal digit and anatomical entity", + "Irregular hyperpigmentation", + "lateral structure phenotype", + "pelvic girdle region", + "paired limb/fin segment", + "multicellular organism development", + "Ventriculomegaly", + "urethra", + "thoracic segment organ", + "Astigmatism", + "Abnormal carotid artery morphology", + "anterior region of body", + "Abnormal reproductive system morphology", + "lateral structure physiology phenotype", + "synovial joint of pelvic girdle", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "upper leg bone", + "multicellular anatomical structure, asymmetrically curved phenotype", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "asymmetrically curved cornea", + "decreased qualitatively reproductive process", + "dermal skeletal element phenotype", + "neural crest-derived structure", + "incomplete closing of the interatrial septum", + "epithelial tube formation", + "digestive system element phenotype", + "brain ventricle morphology phenotype", + "Abnormal umbilicus morphology", + "increased number of organ part in the cerebrospinal fluid", + "Abnormal joint morphology", + "transudate", + "increased number of ectoderm-derived structure in the cerebrospinal fluid", + "multi cell part structure", + "vein", + "limb long bone morphology phenotype", + "bodily fluid", + "multi-tissue structure", + "facial skeleton morphology phenotype", + "limb long bone phenotype", + "All", + "Abnormal bone structure", + "naris phenotype", + "lens of camera-type eye morphology phenotype", + "nervous system phenotype", + "postcranial axial skeletal system", + "Clubbing of toes", + "arterial system", + "bone of pelvic complex morphology phenotype", + "kidney morphology phenotype", + "dorsum", + "nervous system development", + "tube formation phenotype", + "peripheral nervous system phenotype", + "tissue", + "cell differentiation", + "forelimb zeugopod bone morphology phenotype", + "brain ventricle", + "future nervous system", + "regional part of nervous system phenotype", + "Reduced bone mineral density", + "circulatory system", + "Spina bifida", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "appendicular skeleton", + "spinal cord", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "manual digit 1 phalanx", + "orifice phenotype", + "neocortex morphology phenotype", "gamete", "upper jaw region", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", + "palpebral fissure phenotype", "Upslanted palpebral fissure", "manual digit plus metapodial segment", "Abnormal bone ossification", - "Abnormal facial skeleton morphology", - "multi organ part structure", - "increased length of the anatomical line between pupils", - "Abnormal ocular adnexa morphology", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", "Abnormal eyelid morphology", + "palpebral fissure", "female reproductive organ", "ocular adnexa", - "palpebral fissure", - "abnormal lens of camera-type eye morphology", + "opaque lens of camera-type eye", + "blood cell phenotype", + "decreased number of leukocyte", + "lens of camera-type eye phenotype", + "Abnormality of the gastrointestinal tract", + "transparent eye structure phenotype", "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "opaque anatomical entity", - "clavate digit", - "shape eyelid", "Atrial septal defect", "drooping anatomical entity", + "eyelid phenotype", + "large intestine", "Ptosis", "Abnormal cornea morphology", "gland", - "myeloid cell homeostasis", - "glans penis", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", - "olfactory organ", + "clavate digit", + "decreased size of the anatomical structure", + "shape eyelid", + "decreased qualitatively sensory perception", + "incomplete closing of the multicellular anatomical structure", + "Hydrocephalus", + "telencephalon morphology phenotype", + "hindlimb morphology phenotype", + "anatomical projection", + "number of hematopoietic cell phenotype", + "Eumetazoa", + "phalanx morphology phenotype", + "Eukaryota", + "Metazoa", + "Abnormal hand morphology", + "forebrain morphology phenotype", + "root", + "aplasia or hypoplasia of telencephalon", + "Abnormality of the male genitalia", + "increased size of the organ part", + "cellular organisms", + "size of skull phenotype", + "increased length of the multicellular anatomical structure", + "Bicornuate uterus", + "regional part of brain phenotype", + "limb long bone", + "aplasia or hypoplasia of anatomical entity", + "systemic artery morphology phenotype", + "decreased biological_process", + "size of anatomical entity phenotype", + "female reproductive system morphology phenotype", + "telencephalon", "cranial skeletal system", "nose", + "decreased size of the endochondral element", "endocrine gland", - "sperm", - "internal naris", - "Neoplasm by anatomical site", - "olfactory system", - "Abnormality of the nervous system", - "pedal digit digitopodial skeleton", - "pelvic region of trunk", - "bony vertebral centrum", - "abnormal olfactory system morphology", - "abnormal nose", - "Abnormal male urethral meatus morphology", - "renal system", - "male urethra", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "abnormal urethra", - "excretory system", - "posterior nasal aperture atresia", - "Hypospadias", - "epicanthal fold", - "hindlimb long bone", - "abnormal lower urinary tract", - "segment of pes", - "voluntary movement behavior", - "Renal hypoplasia/aplasia", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", - "thoracic segment organ", - "urethra", - "gray matter of telencephalon", - "urethral meatus", - "Abnormality of prenatal development or birth", - "nervous system", - "abnormal face", - "Displacement of the urethral meatus", - "abnormal spermatogenesis", - "Abnormal shape of the palpebral fissure", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "root", - "regional part of nervous system", - "Abnormal midface morphology", - "Decreased head circumference", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "Abnormal pulmonary valve morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anterior chamber of eyeball morphology", - "telencephalon", - "Abnormal vascular morphology", - "Abnormality of skull size", - "Eukaryota", - "Deviation of the 5th finger", - "regional part of brain", - "Visual impairment", - "ulna", - "abdomen", - "deviation of manual digit towards the middle", - "Eumetazoa", "tube closure", + "ocular adnexa phenotype", "Aplasia/Hypoplasia of the cerebrum", + "autonomic nervous system phenotype", "Abnormality of the abdominal organs", + "vertebral column morphology phenotype", "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", - "abnormality of renal system physiology", - "abnormal esophagus morphology", - "abnormal size of anatomical entity", - "digit 1 plus metapodial segment", - "synovial joint", - "Abnormality of the anus", - "abnormal immune system", - "pedal digitopodium region", - "abnormally decreased number of cell", - "Functional abnormality of the inner ear", - "pedal digit", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "axial skeleton plus cranial skeleton", - "Abnormal leukocyte morphology", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "Leukopenia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal kidney", - "abnormal number of anatomical enitites of type leukocyte", - "abnormally decreased number of leukocyte in the blood", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "haemolymphatic fluid", - "abnormal hematopoietic system", - "delayed growth", - "abnormal immune system morphology", - "Hematological neoplasm", - "Reduced bone mineral density", - "Myelodysplasia", - "Abnormality of vision", - "Non-obstructive azoospermia", - "increased size of the anatomical entity in independent continuant", - "central nervous system gray matter layer", - "chamber of eyeball", - "pedal digit bone", - "cardiac atrium", - "Abnormality of the integument", - "abnormal size of brain ventricle", + "Deviation of the 5th finger", + "regional part of brain", + "regional part of nervous system", + "interventricular septum", + "increased length of the anatomical line", + "ganglion of peripheral nervous system morphology phenotype", + "Abnormal midface morphology", + "Abnormal skull morphology", + "skull morphology phenotype", + "oral cavity", + "Abnormality of the ocular adnexa", + "Opisthokonta", + "testis", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Abnormality of the testis size", + "gonad", + "palatine uvula morphology phenotype", + "Decreased anatomical entity mass density", + "embryo", + "Absent testis", + "integument phenotype", + "vision/eye phenotype", + "secondary palate morphology phenotype", + "decreased length of forelimb bone", + "long bone phenotype", + "Abnormality of the outer ear", + "number of myeloid cell phenotype", + "absent germ cell", + "ear morphology phenotype", + "bone element phenotype", + "male reproductive system phenotype", + "vestibulo-auditory system", + "anterior uvea", + "Abnormality of blood and blood-forming tissues", + "external ear phenotype", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "increased size of the non-material anatomical boundary", + "incomplete closing of the organ", + "Abnormal pinna morphology", + "Abnormal ear morphology", + "ear", + "artery morphology phenotype", + "developmental process involved in reproduction phenotype", + "male reproductive organ physiology phenotype", + "internal male genitalia", + "anatomical entity morphology in the brain phenotype", + "incomplete closing of the ectoderm-derived structure", + "eyeball of camera-type eye phenotype", + "increased size of the anatomical structure", + "multi organ part structure phenotype", + "increased size of the ventricle of nervous system", + "epicanthal fold", + "hindlimb long bone", + "decreased length of multicellular anatomical structure", + "abdomen element phenotype", + "increased size of the organ component layer", + "Abnormal nasal morphology", + "internal male genitalia physiology phenotype", + "duodenum morphology phenotype", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "paralysed cranial nerve", + "increased size of the ectoderm-derived structure", + "abdomen element physiology phenotype", + "increased length of the zone of organ", + "absent anatomical structure", + "trunk", + "manual digit 5 plus metapodial segment", + "female reproductive system phenotype", "zone of organ", + "skull phenotype", "increased size of the brain ventricle", - "liver", - "abnormal endocrine system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", + "increased size of the multicellular anatomical structure", + "visual perception phenotype", + "craniocervical region", + "endocrine system phenotype", + "structure with developmental contribution from neural crest, asymmetrically curved phenotype", + "digestive system morphology phenotype", + "exocrine gland phenotype", "Decreased fertility", - "Abnormality of the endocrine system", - "forelimb", - "skeleton of pelvic complex", + "Abnormality of the genitourinary system", + "exocrine system", + "decreased length of forelimb endochondral element", + "intromittent organ", + "respiratory system morphology phenotype", + "gland phenotype", + "Abnormality of the liver", + "fused anatomical entity and manual digit", + "incomplete closing of the roof of mouth", + "liver", + "abdominal segment element phenotype", "abdominal segment of trunk", - "Conotruncal defect", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "trunk region element phenotype", + "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "Abnormality of the liver", - "behavior", - "abdomen element", - "glandular system", - "abnormal hypothalamus-pituitary axis", - "non-material anatomical boundary", - "abnormally fused pedal digit and anatomical entity", - "abnormal location of anatomical entity", - "Renal insufficiency", - "late embryo", - "Cardiomyopathy", - "flat bone", - "increased anatomical entity length in independent continuant", + "gonad phenotype", + "internal ear phenotype", + "liver phenotype", + "decreased functionality of the mesoderm-derived structure", + "gamete generation phenotype", + "subdivision of skeletal system", + "hepatobiliary system", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "behavior process", + "cardiovascular system morphology phenotype", + "anterior chamber of eyeball", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "material anatomical entity, curved phenotype", + "endocrine gland phenotype", + "increased size of the right cardiac chamber", + "hypothalamus-pituitary axis phenotype", + "posterior nasal aperture phenotype", + "hypothalamus-pituitary axis", + "Abnormal reflex", + "hindlimb joint", + "anatomical line phenotype", + "penis", + "increased size of the anatomical line", + "tube phenotype", "Hypertelorism", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", - "immaterial anatomical entity", - "abnormal anatomical entity, curved", + "increased length of the anatomical entity", "anatomical line", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "Oligohydramnios", - "amniotic fluid", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "duodenum", + "immaterial anatomical entity phenotype", + "non-material anatomical boundary phenotype", + "increased length of the immaterial anatomical entity", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "intestine", + "ectoderm-derived structure phenotype", + "immaterial anatomical entity", + "anatomical entity length phenotype", + "decreased qualitatively multicellular organism development", + "digit", + "location of eyeball of camera-type eye phenotype", + "decreased size of the sense organ", + "vessel", + "spermatogenesis phenotype", + "anatomical entity atresia", + "Abnormal spermatogenesis", + "absent material anatomical entity in the multicellular organism", + "morphogenesis of embryonic epithelium", + "haploid cell", + "germ line cell", + "Cafe-au-lait spot", + "gamete phenotype", + "absent material anatomical entity", + "spermatogenesis", + "internal naris", + "sperm", + "erythroid lineage cell morphology phenotype", + "limb segment phenotype", + "number of cell phenotype", + "decreased qualitatively developmental process", + "reproductive process phenotype", + "male gamete", + "prepuce of penis morphology phenotype", + "absent gamete", + "decreased sensory perception of mechanical stimulus", + "iris", + "integumental system", + "semen", + "Aplasia/Hypoplasia affecting the uvea", + "decreased gamete generation", + "absent anatomical entity in the semen", + "subdivision of skeleton phenotype", + "male reproductive system physiology phenotype", + "conceptus", + "decreased multicellular organismal reproductive process", + "Abnormal cellular phenotype", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "internal genitalia", + "skeleton of pes", + "pes morphology phenotype", + "organ part morphology in the heart phenotype", + "reproduction", + "closing of the anatomical conduit", + "developmental process rate phenotype", + "epithelium", + "autopodial skeleton", + "outflow tract of ventricle", + "increased size of the brain ventricle/choroid plexus", + "Abnormality of the skin", + "biological_process rate phenotype", + "Abnormality of the palpebral fissures", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "oxygen accumulating cell", + "manual digit phenotype", + "multicellular organismal reproductive process phenotype", + "Abnormality of the nose", + "developmental process involved in reproduction", + "sexual reproduction", + "male gamete generation", + "fused anatomical entity and digit", + "hematopoietic system phenotype", + "small intestine morphology phenotype", + "small intestine", "cavitated compound organ", "Abnormal duodenum morphology", - "abnormal hindlimb morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "small intestine phenotype", + "Abnormal foot morphology", + "Duodenal stenosis", + "testis phenotype", + "Abnormality of movement", + "intestine morphology phenotype", + "subdivision of tube phenotype", + "increased length of the skin of head", + "Azoospermia", + "Abnormal small intestine morphology", "clavate anatomical entity", "Hydroureter", + "membrane bone phenotype", "Abnormal uterus morphology", + "myocardium phenotype", "Abnormal oral morphology", - "shape forehead", - "posterior region of body", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal digit", - "skeleton of pedal digitopodium", - "skeleton of pedal acropodium", - "vertebral centrum element", - "pelvic appendage skeleton", - "hindlimb endochondral element", - "skeleton of pes", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", - "Duodenal stenosis", - "Abnormal foot morphology", - "Hypermelanotic macule", + "Choanal atresia", + "acropodial skeleton", + "autopod region morphology phenotype", + "continuant", + "hindlimb", + "Functional abnormality of the inner ear", + "pedal digit", "leg", - "abnormally decreased number of anatomical entity in the blood", + "neoplasm phenotype", "phalanx of pes", - "abnormal long bone morphology", + "cardiac valve morphology phenotype", + "orifice atresia", "digitopodium bone", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal iris morphology", "phalanx", - "abnormal phalanx of pes morphology", - "3-D shape anatomical entity in independent continuant", - "abnormal digit morphology", - "Choanal atresia", - "acropodial skeleton", - "digit", - "abnormal phalanx morphology", - "pes", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "Abnormal digit morphology", - "phalanx endochondral element", - "abnormal autopod region morphology", "Abnormality of the lower limb", - "individual digit of digitopodial skeleton", + "jaw skeleton", + "exocrine gland", + "hindlimb bone", + "phalanx endochondral element", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "pes", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "localised reproductive structure", "digitopodium region", - "genitourinary system", - "Limb undergrowth", - "abnormal kidney morphology", - "skull", - "femur", + "fused manual digit and manual digit", + "pedal digitopodium region", + "material anatomical entity, asymmetrically curved phenotype", + "lower limb segment", + "increased length of the anatomical structure", + "pedal digitopodium bone", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "digit morphology phenotype", + "pelvic complex", + "duodenum", + "formed organ subunit", + "long bone morphology phenotype", + "incomplete closing of the mesoderm-derived structure", + "decreased size of the forelimb zeugopod bone", + "joint of girdle morphology phenotype", + "Proptosis", + "hindlimb stylopod", + "lower limb segment phenotype", + "pelvic girdle skeleton", + "pedal digit morphology phenotype", + "posterior region of body", + "Abnormal lower limb bone morphology", + "incomplete closing of the arch of centrum of vertebra", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "radius endochondral element", + "skin of face morphology phenotype", + "Abnormal renal morphology", + "subdivision of organism along appendicular axis phenotype", + "Abnormal cardiovascular system morphology", + "Abnormal ocular adnexa morphology", + "cavitated compound organ phenotype", + "Abnormal localization of kidney", "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", + "Abnormal anus morphology", + "compound organ phenotype", + "decreased functionality of the reproductive organ", + "Abnormality of the female genitalia", + "cardiac ventricle morphology phenotype", + "renal system morphology phenotype", + "male reproductive system morphology phenotype", + "orbital region phenotype", "Abnormality of the kidney", - "Decreased fertility in males", - "prominent anatomical entity", - "abnormal roof of mouth morphology", - "anatomical projection", - "abnormal midface morphology", + "neural tube closure phenotype", + "kidney", "mouth", "Aplasia/Hypoplasia of the iris", + "midface morphology phenotype", + "oral cavity morphology phenotype", + "morphological feature phenotype", + "myocardium morphology phenotype", + "incomplete closing of the anatomical structure", "Abnormal oral cavity morphology", + "roof of mouth morphology phenotype", + "anatomical cavity", "Abnormal aortic valve morphology", + "increased number of multicellular anatomical structure in the cerebrospinal fluid", "midface", - "abnormal soft palate morphology", - "palatine uvula", "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", "soft palate", - "abnormal oral cavity morphology", - "abnormal mouth", + "soft palate morphology phenotype", + "Abnormal soft palate morphology", "primary circulatory organ", + "ectoderm-derived structure, curved phenotype", "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", - "Abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "anatomical cavity", - "absent sperm", - "abnormally formed anatomical entity", - "nervous system cell part layer", - "abnormal pes morphology", - "aplasia or hypoplasia of uvea", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal anterior uvea morphology", - "abnormal artery morphology in the independent continuant", - "abnormal penis morphology", - "abnormal cranium morphology", - "Abnormality iris morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "Abnormal uvea morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", "malformed anatomical entity", - "circulatory organ", - "uvea", + "subdivision of organism along main body axis", + "formed anterior chamber of eyeball", "Abnormal hip joint morphology", "aplasia or hypoplasia of eyeball of camera-type eye", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", + "fused digit and digit", + "decreased length of organ", + "formed multicellular anatomical structure", + "iris phenotype", + "decreased qualitatively multicellular organismal reproductive process", + "formed anatomical structure", + "formed material anatomical entity", + "decreased length of mesoderm-derived structure", + "systemic arterial system", + "Abnormal cerebral morphology", + "palatine uvula phenotype", + "Joint dislocation", + "Abnormal uvea morphology", + "Abnormality iris morphology", + "circulatory organ", + "uvea", + "anatomical collection", + "Macule", "increased biological_process in skin of body", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "integument", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", - "abnormal cardiac valve morphology", + "posterior nasal aperture atresia", + "cerebral hemisphere morphology phenotype", + "Hypospadias", + "fused manual digit and anatomical entity", + "decreased size of the multicellular anatomical structure", + "musculature", "Localized skin lesion", "Abnormal 5th finger morphology", "Abnormal thumb morphology", "aplasia or hypoplasia of ulna", - "increased pigmentation in independent continuant", - "manual digit bone", - "abnormal biological_process in independent continuant", - "non-functional kidney", - "decreased size of the anatomical entity", - "Abnormal cerebral cortex morphology", - "forebrain", - "increased qualitatively biological_process", - "abnormal cell morphology", - "anatomical collection", - "Macule", - "abnormal cornea, curved", - "pigmentation", - "eyeball of camera-type eye", - "abnormal upper urinary tract", - "abnormal skin of body", - "Abnormality of skin morphology", - "abnormality of kidney physiology", - "changed biological_process rate in independent continuant", - "abnormal asymmetry of face", - "abnormal integument", - "abnormal manus", - "abnormal manus morphology", - "Aplasia/hypoplasia involving bones of the hand", + "Abnormal size of the palpebral fissures", + "autopod region phenotype", + "Finger clinodactyly", + "anatomical entity morphology in the manus phenotype", + "manual digit", + "skeleton phenotype", + "manus morphology phenotype", + "number of anatomical enitites of type anatomical structure phenotype", "skeleton of manus", - "Aplasia/Hypoplasia of fingers", - "abnormal cardiac valve morphology in the heart", + "segment of manus", + "vascular system", + "aplasia or hypoplasia of skeleton", "Abnormality of the hand", + "bone of hip region", + "external ear morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "Aplasia/hypoplasia involving bones of the hand", + "amniotic fluid", + "anatomical entity morphology in the pectoral complex phenotype", + "neural crest-derived structure phenotype", + "manual digit morphology in the manus phenotype", "decreased pigmentation in skin of body", + "incomplete closing of the anatomical conduit", "Abnormal finger morphology", - "vascular system", - "abnormal anterior segment of eyeball morphology", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", "Aplasia/hypoplasia involving the skeleton", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", - "male reproductive system", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "appendage", - "abnormally fused digit and digit", - "Clinodactyly of the 5th finger", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", + "fused digit and anatomical entity", + "anatomical entity mass density phenotype", + "pelvic girdle bone/zone", + "eye movement phenotype", + "respiratory system phenotype", + "Abnormality of bone mineral density", + "brain ventricle/choroid plexus phenotype", + "bone element mass density phenotype", "biogenic amine secreting cell", "ossification", - "Abnormality of bone mineral density", - "cardiac chamber", - "abnormal spatial pattern of anatomical entity", - "abnormal late embryo", - "Deviation of the hand or of fingers of the hand", "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of digit towards the middle", + "digit 1 or 5", + "cranial nerve related reflex", + "manual digit 5 morphology phenotype", + "manual digit 5", + "spatial pattern of anatomical entity phenotype", + "digit 1 or 5 phenotype", + "digit 5 plus metapodial segment", + "digestive system", + "decreased length of endochondral bone", + "Deviation of the hand or of fingers of the hand", "appendicular skeletal system", - "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", "deviation of manual digit", - "trunk", - "manual digit 5 plus metapodial segment", - "digit 1 or 5", - "manual digit 5", - "hypertrophic multicellular anatomical structure", - "dermal skeletal element", - "decreased length of anatomical entity in independent continuant", + "decreased functionality of the organ part", + "upper limb segment phenotype", + "decreased length of bone element", + "ulna phenotype", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "organ phenotype", + "Forearm undergrowth", + "genitourinary system", + "Limb undergrowth", + "decreased size of the forelimb endochondral element", + "cardiac ventricle morphology in the heart phenotype", + "decreased size of the anatomical entity", + "Upper limb undergrowth", + "decreased length of material anatomical entity", + "decreased length of skeletal element", + "decreased size of the long bone", + "decreased size of the material anatomical entity", + "decreased size of the endochondral bone", + "Hematological neoplasm", + "decreased size of the organ", + "ulna hypoplasia", + "head bone phenotype", + "decreased size of the bone of pectoral complex", + "Short long bone", + "decreased length of bone of free limb or fin", + "decreased size of the bone of free limb or fin", + "increased response to external stimulus", + "forelimb zeugopod bone hypoplasia", + "forelimb long bone phenotype", "paired limb/fin skeleton", + "respiratory system physiology phenotype", "Abnormal nervous system physiology", "Hypoplasia of the ulna", - "Upper limb undergrowth", - "forelimb zeugopod bone hypoplasia", - "abnormal incomplete closing of the interatrial septum", - "intestine", - "Decreased multicellular organism mass", - "Aplasia/Hypoplasia of the ulna", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", + "decreased size of the bone element", "Short forearm", + "decreased length of limb endochondral element", + "decreased size of the anatomical entity in the pectoral complex", + "decreased size of the bone of appendage girdle complex", + "increased length of the zone of skin", "Aplasia/hypoplasia involving forearm bones", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "increased height of the secondary palate", - "Tetralogy of Fallot", - "Forearm undergrowth", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", + "Cardiomyopathy", + "flat bone", + "pelvic region element", + "Hyperpigmentation of the skin", + "limb joint", + "anatomical conduit atresia", + "joint of girdle", + "manus phenotype", + "hindlimb joint phenotype", + "zone of bone organ", + "skeletal joint", + "articulation phenotype", "Micrognathia", "anatomical entity dislocation", - "Abnormal localization of kidney", - "abnormal skeletal joint morphology", - "articulation", - "cerebral hemisphere gray matter", - "skin of body", - "abnormal pelvic girdle bone/zone morphology", "skeletal joint dislocation", - "peripheral nervous system", - "abnormal hip joint morphology", - "articular system", - "abnormal embryonic tissue morphology", - "zone of bone organ", - "Abnormal hip bone morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", - "stylopod", - "upper leg bone", - "abnormal femur morphology", - "abnormal hindlimb stylopod morphology", - "dentary", - "femur endochondral element", - "Abnormality of femur morphology", - "Abnormality of enteric ganglion morphology", - "abnormal intestine morphology", - "abnormal face morphology", - "axial skeletal system", - "autonomic ganglion", - "enteric ganglion", - "parasympathetic ganglion", - "enteric nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "autonomic nervous system", - "Unusual infection", - "abnormal enteric ganglion morphology", - "neurocranium bone", - "parasympathetic nervous system", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal autonomic nervous system morphology", ], }, + { + "id": "MONDO:1011502", + "category": "biolink:Disease", + "name": "Fanconi syndrome, cattle", + "description": "Fanconi syndrome that occurs in cattle.", + "provided_by": "phenio_nodes", + "xref": ["OMIA:000366-9913"], + "namespace": "MONDO", + "has_phenotype_count": 0, + }, { "id": "MONDO:0001083", "category": "biolink:Disease", "name": "Fanconi renotubular syndrome", + "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", + "provided_by": "phenio_nodes", "xref": [ "DOID:1062", "GARD:9120", + "MEDGEN:4653", "MESH:D005198", "NANDO:2100027", "NANDO:2200187", "NCIT:C3034", + "SCTID:236466005", "SCTID:40488004", "UMLS:C0015624", ], - "provided_by": "phenio_nodes", - "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", "synonym": [ "De toni-Fanconi syndrome", "De toni-debre-Fanconi syndrome", @@ -3466,470 +4091,487 @@ def search_response(): "id": "MONDO:0009217", "category": "biolink:Disease", "name": "Fanconi-like syndrome", - "xref": ["DOID:0090066", "MESH:C536855", "OMIM:227850", "SCTID:236469003", "UMLS:C0151638"], - "provided_by": "phenio_nodes", "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", + "provided_by": "phenio_nodes", + "xref": [ + "DOID:0090066", + "MEDGEN:56237", + "MESH:C536855", + "OMIM:227850", + "SCTID:236469003", + "UMLS:C0151638", + ], "synonym": ["Fanconi-like syndrome"], "namespace": "MONDO", - "has_phenotype": ["HP:0002754", "HP:0002783", "HP:0005939", "HP:0001876", "HP:0007606"], + "has_phenotype": ["HP:0005939", "HP:0002754", "HP:0001876", "HP:0002783", "HP:0007606"], "has_phenotype_label": [ - "Osteomyelitis", - "Recurrent lower respiratory tract infections", "Multiple bilateral pneumothoraces", + "Osteomyelitis", "Pancytopenia", + "Recurrent lower respiratory tract infections", "Multiple cutaneous malignancies", ], "has_phenotype_count": 5, "has_phenotype_closure": [ - "HP:0002664", + "UPHENO:3000003", + "HP:0001574", "UBERON:0004121", - "UPHENO:0002635", + "HP:0011793", + "HP:0007606", "UBERON:0002097", "UBERON:0002199", "UBERON:0002416", - "HP:0001574", - "HP:0007606", - "HP:0011793", - "UBERON:0000479", - "UPHENO:0084987", + "UPHENO:0002635", + "HP:0002664", + "HP:0032101", + "HP:0011947", + "HP:0002783", + "HP:0002719", "UPHENO:0011498", - "HP:0025354", - "UPHENO:0085118", "UPHENO:0086172", - "UPHENO:0085144", - "HP:0001876", - "UBERON:0002371", - "UPHENO:0085302", - "HP:0032251", - "CL:0002242", - "CL:0001035", - "UBERON:0002193", - "CL:0000225", - "HP:0011873", - "CL:0000151", - "CL:0000255", - "UPHENO:0077426", - "UPHENO:0086173", - "HP:0011893", - "HP:0020047", - "UPHENO:0085195", - "HP:0001872", - "UPHENO:0063722", - "CL:0000219", - "UPHENO:0086005", - "UPHENO:0084928", - "UPHENO:0085068", - "UPHENO:0006910", - "UPHENO:0086049", - "UPHENO:0085984", - "UPHENO:0076675", - "CL:0000232", - "CL:0000458", - "CL:0000763", + "UPHENO:0080010", "CL:0000738", - "UPHENO:0086045", - "HP:0005561", - "UPHENO:0087355", + "UBERON:0000479", "UPHENO:0087123", "HP:0011842", + "UPHENO:0063794", + "HP:0011873", + "CL:0000151", + "UPHENO:0077418", "CL:0002092", - "HP:0012145", + "CL:0000232", + "UPHENO:0076675", + "HP:0005561", "CL:0000233", "UPHENO:0004459", + "UPHENO:0063787", + "HP:0001876", + "CL:0000763", + "CL:0000458", + "UBERON:0002371", + "UBERON:0002193", + "CL:0001035", + "CL:0000255", + "CL:0002242", + "CL:0000219", + "CL:0000225", + "UPHENO:0002554", + "UPHENO:0085302", "HP:0011875", "UPHENO:0088166", "UPHENO:0076703", "CL:0000457", "UPHENO:0085371", - "HP:0002107", - "NCBITaxon:6072", + "UPHENO:0077391", + "HP:0032251", + "HP:0012145", + "UPHENO:0086173", + "HP:0025354", + "UPHENO:0002548", + "HP:0011893", + "HP:0020047", + "UPHENO:0011536", + "HP:0001872", + "UPHENO:0063722", + "UPHENO:0011531", + "UPHENO:0074682", + "UBERON:0001015", + "UBERON:0000383", + "UBERON:0003103", + "UPHENO:0076692", + "CL:0000081", + "UBERON:0009569", + "UBERON:0004119", + "BFO:0000001", "HP:0008069", "UBERON:0001474", "HP:0005939", - "BFO:0000040", - "UPHENO:0074624", - "UBERON:0015212", - "NCBITaxon:33154", - "UBERON:0010000", - "HP:0010978", - "HP:0002754", - "UPHENO:0002964", - "HP:0000951", - "HP:0012252", - "UPHENO:0083263", - "UBERON:0000468", - "UPHENO:0001005", - "BFO:0000020", - "UBERON:0002204", - "UPHENO:0002536", - "UPHENO:0002448", - "HP:0000118", - "UBERON:0001062", - "UPHENO:0080377", - "UBERON:0000042", - "UPHENO:0080693", - "UPHENO:0074687", - "UBERON:0004120", - "UPHENO:0080662", - "UPHENO:0049587", - "UPHENO:0081440", - "UBERON:0004765", - "UBERON:0034923", - "UBERON:0000481", - "UPHENO:0080221", - "UPHENO:0074685", - "UPHENO:0001002", - "CL:0000000", - "UPHENO:0054970", - "HP:0002719", - "HP:0011843", - "HP:0002088", - "BFO:0000002", - "PATO:0000001", - "UBERON:0000915", - "UBERON:0000061", - "HP:0001881", - "UPHENO:0085344", - "HP:0002205", - "UBERON:0000065", - "UPHENO:0003811", - "UPHENO:0082682", - "BFO:0000004", - "UBERON:0001005", - "UPHENO:0001001", - "UPHENO:0086908", - "UPHENO:0002263", - "UPHENO:0001003", - "UBERON:0002390", - "GO:0006954", - "GO:0006952", - "HP:0002715", - "UBERON:0000025", - "CL:0000329", - "HP:0012647", - "UPHENO:0081590", - "UPHENO:0002332", - "HP:0033127", "BFO:0000015", "CL:0000988", "UBERON:0000465", - "UBERON:0000064", - "BFO:0000001", - "UBERON:0015203", - "UBERON:0005906", - "UPHENO:0059829", - "UBERON:0002405", - "NCBITaxon:2759", + "UPHENO:0002963", + "BFO:0000020", + "UBERON:0010000", + "HP:0002205", + "UPHENO:0085344", + "HP:0001881", + "UBERON:0000065", + "UBERON:0000061", + "OBI:0100026", + "UBERON:0000171", + "UBERON:0000481", + "UBERON:0000468", + "UPHENO:0083263", "CL:0000764", - "UPHENO:0074572", "NCBITaxon:1", - "UBERON:0001434", - "UBERON:0000467", - "UBERON:0002100", - "UBERON:0011216", - "UPHENO:0082875", - "UPHENO:0002948", - "UPHENO:0049588", - "UBERON:0002048", - "UPHENO:0076684", - "UBERON:0001558", - "HP:0032101", - "HP:0001871", - "UPHENO:0049586", - "UPHENO:0075696", - "HP:0002103", - "UBERON:0000171", - "UBERON:0005177", - "UPHENO:0085070", - "UPHENO:0076692", - "UBERON:0001004", - "UBERON:0013522", - "BFO:0000003", - "PR:000050567", + "UPHENO:0002530", + "UBERON:0005906", + "UBERON:0015203", + "UBERON:0011676", + "UBERON:0000072", + "UPHENO:0002267", "UBERON:0013701", - "CL:0000081", - "UBERON:0009569", - "HP:0002086", - "HP:0002783", - "UBERON:0004119", - "UBERON:0000170", - "HP:0001873", - "UBERON:0013702", - "UPHENO:0019970", + "GO:0006952", + "UPHENO:0002525", "GO:0008150", "HP:0002795", - "UPHENO:0004536", "UBERON:0005181", - "UPHENO:0085189", "HP:0025461", "NCBITaxon:33208", "UBERON:0000077", - "UBERON:0002075", - "UPHENO:0087339", - "UPHENO:0087433", - "UPHENO:0082723", - "UPHENO:0015280", - "UPHENO:0020748", - "UBERON:0000475", - "HP:0011947", - "OBI:0100026", - "UPHENO:0020584", - "UBERON:0011676", - "UBERON:0000072", - "HP:0000001", + "NCBITaxon:33154", + "UBERON:0015212", + "BFO:0000040", + "UPHENO:0074624", + "UBERON:0000170", + "UBERON:0034925", + "UBERON:0000064", + "UBERON:0001062", + "UBERON:0000042", + "UPHENO:0077373", + "UPHENO:0080377", + "HP:0001873", + "UBERON:0013702", + "HP:0000118", + "HP:0000001", "UBERON:0004111", "UBERON:0005178", - "UBERON:0034925", - "UBERON:0003103", - "UPHENO:0049584", - "GO:0050896", - "HP:0012649", - "UBERON:0000060", + "UPHENO:0081581", "UBERON:0000062", + "UPHENO:0002269", + "UPHENO:0002536", + "UPHENO:0002448", + "HP:0033127", + "UPHENO:0055024", + "HP:0002086", + "UPHENO:0002526", + "UPHENO:0004536", + "BFO:0000002", + "UBERON:0005177", + "HP:0002088", + "UPHENO:0002816", + "HP:0011843", "UBERON:0009778", + "UBERON:0002075", + "NCBITaxon:6072", + "UPHENO:0001003", + "UPHENO:0074681", + "BFO:0000004", + "UBERON:0001005", + "UBERON:0002048", + "UPHENO:0077348", + "UPHENO:0076684", + "UBERON:0001558", + "UPHENO:0087433", + "UBERON:0001004", + "HP:0000951", + "HP:0012252", + "NCBITaxon:2759", + "UBERON:0002405", + "UPHENO:0002964", + "HP:0002754", + "HP:0010978", + "UBERON:0000915", + "PATO:0000001", + "CL:0000000", + "UPHENO:0054970", + "UBERON:0000475", + "UBERON:0013522", + "HP:0002107", + "UPHENO:0082875", "HP:0010987", - "HP:0000924", "UBERON:0000977", - "GO:0006950", + "HP:0000924", + "UBERON:0000025", + "HP:0002715", + "UBERON:0004765", + "UBERON:0034923", + "UPHENO:0081440", + "UPHENO:0002976", + "UPHENO:0074751", + "UBERON:0004120", + "UPHENO:0080662", + "UPHENO:0002385", + "UPHENO:0049587", + "UPHENO:0002948", + "UPHENO:0049588", + "UBERON:0000467", + "UBERON:0002100", + "UBERON:0011216", + "UPHENO:0005092", + "UPHENO:0080693", + "UPHENO:0074687", + "UPHENO:0001002", + "UPHENO:0049585", + "CL:0000329", + "UPHENO:0081590", + "HP:0012647", + "UPHENO:0003811", + "UPHENO:0002568", + "PR:000050567", + "BFO:0000003", "NCBITaxon:131567", + "GO:0006950", + "UBERON:0000060", + "HP:0012649", + "GO:0050896", + "UPHENO:0049584", + "HP:0001871", + "HP:0002103", + "UPHENO:0049586", + "UPHENO:0001001", + "UPHENO:0002263", + "UBERON:0001434", + "UBERON:0002204", + "UBERON:0002390", + "GO:0006954", ], "has_phenotype_closure_label": [ - "Abnormality of the skin", - "Neoplasm by anatomical site", - "Neoplasm", - "integumental system", "Multiple cutaneous malignancies", "Neoplasm of the skin", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "bone marrow", - "cell", + "integument phenotype", + "Neoplasm", + "skin of body phenotype", + "Neoplasm by anatomical site", + "Respiratory tract infection", + "Recurrent lower respiratory tract infections", + "Recurrent infections", + "Unusual infection", "Abnormal immune system morphology", + "Abnormal platelet morphology", + "decreased number of hematopoietic cell", + "decreased number of cell", + "leukocyte", "Pancytopenia", - "serotonin secreting cell", - "abnormal myeloid cell morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormally decreased number of platelet", - "abnormal number of anatomical enitites of type platelet", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal platelet", "Abnormality of blood and blood-forming tissues", - "bone element", - "abnormal bone marrow cell morphology", - "abnormal leukocyte morphology", - "nucleate cell", - "oxygen accumulating cell", - "hemolymphoid system", - "hematopoietic cell", - "Abnormal leukocyte count", - "secretory cell", - "abnormal hematopoietic system morphology", + "Abnormal bone marrow cell morphology", + "number of platelet phenotype", + "number of myeloid cell phenotype", "Abnormal cellular phenotype", + "Abnormal myeloid cell morphology", + "secretory cell", + "Abnormal leukocyte count", + "cell phenotype", + "skeletal element", + "blood cell phenotype", + "cell", + "decreased number of anatomical structure", + "integumental system", + "immune system morphology phenotype", + "Abnormal skeletal morphology", + "number of hematopoietic cell phenotype", + "number of anatomical enitites of type material anatomical entity phenotype", "bone marrow cell", - "bone cell", - "Abnormality of bone marrow cell morphology", - "abnormal bone marrow cell", - "Abnormal cell morphology", - "abnormally decreased number of anatomical entity", - "platelet", "Abnormal cellular immune system morphology", "erythrocyte", - "leukocyte", - "abnormal bone marrow morphology", - "increased biological_process in bone element", - "non-connected functional system", - "increased qualitatively inflammatory response", - "subdivision of tube", - "Abnormal leukocyte morphology", - "response to stimulus", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "anatomical system", - "Abnormality of thrombocytes", - "organ", - "organism", - "abnormal platelet morphology", - "Abnormal platelet count", - "material anatomical entity", - "abnormal integument", - "abnormal biological_process", - "increased inflammatory response", - "abnormal number of anatomical enitites of type cell", - "increased inflammatory response in independent continuant", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "abnormal phenotype by ontology source", - "abnormality of musculoskeletal system physiology", - "trunk", - "phenotype", - "biogenic amine secreting cell", - "Abnormal musculoskeletal physiology", - "organ system subdivision", - "response to stress", - "ectoderm-derived structure", - "proximo-distal subdivision of respiratory tract", - "increased qualitatively biological_process", - "pleural sac", - "material entity", - "motile cell", - "independent continuant", - "Increased inflammatory response", - "quality", - "abnormal cell morphology", - "myeloid cell", - "immune system", - "root", - "Abnormal skeletal morphology", - "abnormal response to stimulus", - "Abnormal inflammatory response", - "abnormal inflammatory response", - "Thrombocytopenia", - "Abnormality of immune system physiology", - "increased qualitatively biological_process in independent continuant", - "viscus", - "occurrent", - "abnormal anatomical entity", - "entity", - "disconnected anatomical group", + "ectoderm-derived structure phenotype", + "hematopoietic system phenotype", + "platelet", + "Abnormal cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", + "serotonin secreting cell", + "hematopoietic cell", + "number of cell phenotype", + "bone marrow", + "decreased number of material anatomical entity", + "hemolymphoid system", + "bone cell", "integument", "eukaryotic cell", - "increased qualitatively inflammatory response in independent continuant", - "inflammatory response", - "specifically dependent continuant", - "biological_process", + "nucleate cell", + "anucleate cell", + "increased defense response in bone element", + "Abnormality of the respiratory system", + "oxygen accumulating cell", + "material anatomical entity phenotype", + "Phenotypic abnormality", + "Abnormal respiratory system physiology", + "organism", + "Abnormality of thrombocytes", + "organ", + "anatomical system", "tissue", "continuant", - "erythroid lineage cell", - "multicellular anatomical structure", - "abnormal skeletal system", - "increased biological_process", - "abnormal immune system morphology", - "Eumetazoa", - "defense response", + "thoracic segment of trunk", + "anatomical entity morphology phenotype", "Abnormality of the integument", "protein-containing material entity", + "multicellular organism", + "anatomical entity physiology phenotype", "skin of body", "skeletal system", - "abnormal skin of body", - "musculoskeletal system", - "Abnormal pleura morphology", - "hematopoietic system", - "Abnormality of the skeletal system", - "increased qualitatively response to stimulus", - "anatomical structure", - "anatomical conduit", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "Eukaryota", - "abnormality of immune system physiology", - "Abnormal myeloid cell morphology", - "changed biological_process rate", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology", - "lateral structure", - "multicellular organism", - "anucleate cell", - "phenotype by ontology source", - "abnormal cell", - "Abnormal respiratory system physiology", - "Osteomyelitis", - "increased inflammatory response in bone element", - "abnormally decreased number of myeloid cell", - "compound organ", - "anatomical entity", - "body proper", + "Metazoa", + "trunk region element", "blood cell", "respiration organ", - "pair of lungs", - "trunk region element", - "thoracic segment organ", - "anatomical collection", - "abnormal respiratory system morphology", - "main body axis", - "abnormally decreased number of hematopoietic cell", - "serous membrane", - "abnormal biological_process in independent continuant", - "Unusual infection", - "Abnormality of the immune system", - "multi-tissue structure", - "Metazoa", - "abnormal blood cell", - "abnormal response to stress", - "subdivision of trunk", - "Abnormal respiratory system morphology", - "organ part", - "Recurrent respiratory infections", - "respiratory system", - "Multiple bilateral pneumothoraces", - "All", - "abnormal lung morphology", + "body proper", "tube", "Pneumothorax", - "Recurrent infections", - "abnormally decreased number of cell", - "abnormal immune system", - "thoracic segment of trunk", - "abnormal respiratory system", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal number of anatomical enitites of type anatomical entity", - "serous sac", - "Abnormality of the respiratory system", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Recurrent lower respiratory tract infections", - "endoderm-derived structure", - "subdivision of organism along main body axis", - "lung", - "respiratory airway", + "increased response to stress in bone element", + "mesoderm-derived structure", + "decreased number of platelet", + "phenotypic effect", + "anatomical system physiology phenotype", + "neoplasm phenotype", + "Increased inflammatory response", + "decreased number of myeloid cell", "thoracic cavity element", - "abnormal anatomical entity morphology in the independent continuant", - "organism subdivision", - "respiratory tract", - "abnormality of respiratory system physiology", + "respiratory system morphology phenotype", + "anatomical entity", + "lateral structure", + "hematopoietic system", + "Abnormality of the skeletal system", "cellular organisms", "Opisthokonta", - "Abnormal lung morphology", - "Respiratory tract infection", - "lower respiratory tract", - "anatomical wall", - "abnormality of anatomical entity physiology", - "abnormal pleura morphology", - "abnormal number of anatomical enitites of type myeloid cell", "mixed endoderm/mesoderm-derived structure", - "process", + "ectoderm-derived structure", + "proximo-distal subdivision of respiratory tract", + "entity", + "disconnected anatomical group", + "Abnormal platelet count", + "material anatomical entity", + "compound organ", + "increased inflammatory response in bone element", + "organ phenotype", + "pleura morphology phenotype", + "pleural sac", + "increased qualitatively biological_process", + "mesoderm-derived structure phenotype", + "bone element", + "anatomical entity phenotype", + "anatomical structure physiology phenotype", + "Eukaryota", + "Abnormality of the musculoskeletal system", + "serous membrane", + "multicellular organism morphology phenotype", + "respiratory system phenotype", + "material entity", + "multi-tissue structure", + "Abnormality of the immune system", + "phenotype", + "Abnormal pleura morphology", + "musculoskeletal system", + "quality", + "endoderm-derived structure", + "multicellular anatomical structure phenotype", + "defense response", + "Eumetazoa", + "material anatomical entity physiology phenotype", + "Multiple bilateral pneumothoraces", + "Recurrent respiratory infections", + "respiratory system", + "response to stress phenotype", + "subdivision of trunk", + "Abnormal respiratory system morphology", + "organ part", + "Abnormality of multiple cell lineages in the bone marrow", + "leukocyte morphology phenotype", + "serous sac", + "erythroid lineage cell", + "multicellular anatomical structure", + "taxon specific phenotype", + "anatomical collection", + "biological_process rate phenotype", + "thoracic segment organ", + "biogenic amine secreting cell", + "Abnormal musculoskeletal physiology", + "decreased number of anatomical entity", + "viscus", + "anatomical structure", + "musculoskeletal system phenotype", + "anatomical conduit", + "musculature", + "increased qualitatively response to stimulus", + "Thrombocytopenia", + "Abnormality of immune system physiology", + "trunk", + "myeloid cell", + "root", + "immune system", + "response to stress", + "organ system subdivision", + "All", + "Abnormal lung morphology", + "motile cell", + "independent continuant", + "number of anatomical enitites of type anatomical entity phenotype", + "respiratory tract", + "organism subdivision", + "main body axis", + "biological_process phenotype", + "anatomical structure phenotype", + "defense response phenotype", + "respiratory airway", + "lower respiratory tract", + "anatomical wall", + "subdivision of tube", + "non-connected functional system", + "increased qualitatively inflammatory response", + "respiratory system physiology phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "lung", + "increased inflammatory response", + "Abnormal inflammatory response", + "specifically dependent continuant", + "inflammatory response", + "increased response to stimulus in bone element", + "Osteomyelitis", + "biological_process", + "increased biological_process in bone element", + "skeletal system phenotype", + "inflammatory response phenotype", + "anatomical system phenotype", + "musculature phenotype", + "Abnormal leukocyte morphology", + "response to stimulus", + "platelet phenotype", + "increased response to stimulus", + "immune system physiology phenotype", + "occurrent", "pleura", - "mesoderm-derived structure", - "skeletal element", + "process", + "Abnormality of the skin", + "musculature of body", + "organ system subdivision phenotype", + "response to stimulus phenotype", + "increased biological_process", + "immune system phenotype", + "pair of lungs", + "musculoskeletal system physiology phenotype", ], }, + { + "id": "MONDO:0060779", + "category": "biolink:Disease", + "name": "acquired Fanconi syndrome", + "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "provided_by": "phenio_nodes", + "xref": ["MEDGEN:90966", "NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], + "synonym": ["acquired Fanconi syndrome"], + "namespace": "MONDO", + "has_phenotype_count": 0, + }, { "id": "MONDO:0060778", "category": "biolink:Disease", "name": "adult Fanconi syndrome", - "xref": ["NCIT:C4377"], + "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.", "provided_by": "phenio_nodes", - "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", + "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"], "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], "namespace": "MONDO", "has_phenotype": ["HP:0003581"], - "has_phenotype_label": ["Adult onset"], "has_phenotype_count": 1, - "has_phenotype_closure": ["HP:0003674", "HP:0012823", "HP:0003581", "HP:0000001", "HP:0031797"], - "has_phenotype_closure_label": [ - "Clinical course", - "Onset", - "Clinical modifier", - "Adult onset", - "All", - ], + "has_phenotype_closure": ["HP:0003581"], }, { - "id": "MONDO:0060779", + "id": "MONDO:1011504", "category": "biolink:Disease", - "name": "acquired Fanconi syndrome", - "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], + "name": "Fanconi syndrome, horse", + "description": "Fanconi syndrome that occurs in horse.", "provided_by": "phenio_nodes", - "description": "Fanconi Syndrome caused by exposure to noxious agents.", - "synonym": ["acquired Fanconi syndrome"], + "xref": ["OMIA:000366-9796"], "namespace": "MONDO", "has_phenotype_count": 0, }, @@ -3937,23 +4579,20 @@ def search_response(): "id": "MONDO:0007600", "category": "biolink:Disease", "name": "primary Fanconi syndrome", - "xref": ["GARD:9118", "NCIT:C123229", "Orphanet:3337"], - "provided_by": "phenio_nodes", "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.", + "provided_by": "phenio_nodes", + "xref": ["GARD:9118", "MEDGEN:341765", "NCIT:C123229", "Orphanet:3337", "UMLS:C1857395"], "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"], "namespace": "MONDO", "has_phenotype": [ - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", "HP:0002749", + "HP:0000117", "HP:0003774", - "HP:0002150", - "HP:0001944", + "HP:0004918", "HP:0002206", "HP:0001943", + "HP:0002150", + "HP:0001944", "HP:0012622", "HP:0012606", "HP:0004912", @@ -3964,15233 +4603,12656 @@ def search_response(): "HP:0002659", "HP:0002653", "HP:0002148", + "HP:0001824", + "HP:0001324", "HP:0032943", - "HP:0004918", + "HP:0004910", "HP:0003646", "HP:0003149", "HP:0003126", "HP:0003076", "HP:0002909", "HP:0002049", + "HP:0001510", ], "has_phenotype_label": [ - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", "Osteomalacia", + "Renal phosphate wasting", "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", + "Hyperchloremic metabolic acidosis", "Pulmonary fibrosis", "Hypoglycemia", + "Hypercalciuria", + "Dehydration", "Chronic kidney disease", "Renal sodium wasting", "Hypophosphatemic rickets", "Hypouricemia", - "Decreased plasma carnitine", + "Decreased circulating carnitine concentration", "Increased urinary potassium", "Hypokalemia", "Increased susceptibility to fractures", "Bone pain", "Hypophosphatemia", + "Weight loss", + "Muscle weakness", "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", + "Bicarbonate-wasting renal tubular acidosis", "Bicarbonaturia", "Hyperuricosuria", "Low-molecular-weight proteinuria", "Glycosuria", "Generalized aminoaciduria", "Proximal renal tubular acidosis", + "Growth delay", ], "has_phenotype_count": 29, 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"UBERON:0034925", - "UBERON:0002048", - "GO:0042592", - "HP:0004912", - "UPHENO:0066781", - "GO:0050878", - "UPHENO:0051930", - "CHEBI:33521", - "CHEBI:36586", - "CHEBI:22984", - "CHEBI:26020", - "HP:0000083", - "UPHENO:0082794", - "HP:0011804", - "CHEBI:33917", - "HP:0002795", - "UBERON:0001434", - "UPHENO:0084653", - "HP:0004348", - "UBERON:0002204", - "HP:0003330", - "CHEBI:33304", - "UBERON:0013702", - "HP:0010930", - "HP:0000924", - "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0076692", - "UPHENO:0002536", - "CHEBI:23906", - "HP:0002150", - "HP:0011842", - "UPHENO:0068089", - "UPHENO:0075696", - "UBERON:0004765", - "UBERON:0000467", - "CHEBI:33273", - "UPHENO:0076703", - "UBERON:0000065", - "HP:0002653", - "UPHENO:0084654", - "CHEBI:35568", - "CHEBI:18133", - "UPHENO:0004536", - "CL:0000000", + "CHEBI:33709", + "HP:0012072", + "UPHENO:0080658", + "HP:0000093", + "CHEBI:50047", + "UPHENO:0068565", + "CHEBI:15841", + "UPHENO:0051608", + "UPHENO:0068024", + "HP:0012610", + "UPHENO:0048750", + "HP:0031980", + "HP:0003646", + "HP:6000531", + "UPHENO:0051714", "UBERON:0000479", - "CHEBI:83821", - "UPHENO:0000541", - "UPHENO:0051739", - "UPHENO:0066943", - "UBERON:0002390", - "HP:0004325", - "CHEBI:35584", - "UPHENO:0078555", - "UPHENO:0081547", - "CHEBI:25414", - "UPHENO:0086132", + "UPHENO:0066927", + "UPHENO:0002248", + "UBERON:0001231", + "UBERON:0004819", + "UPHENO:0024906", + "UPHENO:0005285", + "UPHENO:0066954", + "UPHENO:0002252", + "UPHENO:0066964", + "UBERON:0006555", + "UBERON:0000483", + "UPHENO:0002668", + "UBERON:0009773", "UBERON:0007684", "UBERON:0004211", - "CHEBI:18059", - "UBERON:0000916", - "UPHENO:0079536", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0034149", - "HP:0012072", - "GO:0008150", - "UPHENO:0051763", - "UPHENO:0068491", - "UBERON:0001062", - "HP:0001510", - "CHEBI:25696", - "UPHENO:0002964", - "HP:0000119", - "UPHENO:0082542", - "UPHENO:0000543", - "UPHENO:0051686", - "CHEBI:36915", + "HP:0001947", + "UPHENO:0002564", + "UPHENO:0005141", + "UPHENO:0002859", + "HP:0032943", + "UPHENO:0002359", + "HP:0003011", + "UPHENO:0003047", + "HP:0001324", + "UPHENO:0010799", + "GO:0040007", + "CHEBI:16670", + "HP:0004325", + "UPHENO:0054304", + "HP:0001824", + "UPHENO:0054315", + "UPHENO:0049874", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0025142", + "HP:0012531", + "UPHENO:0005092", + "UPHENO:0089770", + "UPHENO:0089756", + "CHEBI:60242", + "CHEBI:24835", + "CHEBI:36914", + "UPHENO:0051645", + "UPHENO:0080556", + "UPHENO:0054374", + "HP:0002900", + "UPHENO:0005201", + "HP:0010929", + "HP:0003081", + "UPHENO:0051849", + "GO:0005623", + "UPHENO:0068054", + "UPHENO:0051777", + "HP:0012103", + "HP:0010967", + "CHEBI:29067", + "GO:0005622", + "GO:0005737", + "GO:0043226", + "UPHENO:0034319", + "CHEBI:33674", + "CHEBI:25699", + "UPHENO:0002636", + "CHEBI:36358", + "UPHENO:0084537", + "GO:0005575", + "UPHENO:0046337", + "HP:0011843", + "HP:0003234", + "UPHENO:0006889", + "UPHENO:0082544", + "CHEBI:17126", + "UPHENO:0084472", + "CHEBI:28868", + "CHEBI:33575", + "HP:0004359", + "CHEBI:22860", + "UPHENO:0051979", + "CHEBI:35284", + "CHEBI:35366", + "CHEBI:33608", + "CHEBI:24651", + "CHEBI:25741", + "UPHENO:0089739", + "CHEBI:18059", + "UPHENO:0084542", + "CHEBI:35757", + "CHEBI:27369", + "UPHENO:0084541", + "UPHENO:0051881", + "HP:0004364", + "CHEBI:25810", + "UPHENO:0089745", + "HP:0033354", + "UPHENO:0066921", + "HP:0002157", + "CHEBI:51143", + "UPHENO:0010808", + "CHEBI:33655", + "CHEBI:5686", + "CHEBI:33636", + "CHEBI:33832", + "HP:0011042", + "CHEBI:25367", + "UPHENO:0068442", + "UPHENO:0068251", + "UPHENO:0046383", + "CHEBI:27171", + "CHEBI:38101", + "CHEBI:33833", + "HP:0003537", + "CHEBI:35875", + "UPHENO:0068064", + "CHEBI:72695", + "CHEBI:35352", + "CHEBI:33671", + "GO:0043231", + "CHEBI:33672", + "CHEBI:37622", + "CHEBI:24532", + "UPHENO:0066903", + "CHEBI:33659", + "UPHENO:0003941", + "CHEBI:24870", + "CHEBI:33259", + "HP:0010932", + "CHEBI:24867", + "HP:0002049", + "UPHENO:0068296", + "UPHENO:0066739", + "UPHENO:0034351", + "UPHENO:0051960", + "HP:0100529", + "UPHENO:0081550", + "UPHENO:0002360", + "UBERON:0009569", + "UBERON:0001285", + "UBERON:0013701", + "CHEBI:22313", + "HP:0012211", + "UBERON:0015212", + "UBERON:0000489", + "UPHENO:0050433", + "UPHENO:0002377", + "UBERON:0005173", + "UPHENO:0002210", + "UBERON:0005177", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002246", + "UBERON:0003914", + "CHEBI:64709", + "CHEBI:38166", + "UPHENO:0002267", + "HP:0012622", + "UPHENO:0002634", + "HP:0011013", + "UPHENO:0075902", "UPHENO:0068036", - "UPHENO:0081548", + "CHEBI:36915", + "UPHENO:0051686", "CHEBI:33579", - "UPHENO:0051668", - "GO:0009112", - "CHEBI:36359", + "HP:0002148", + "CHEBI:36357", + "GO:0008152", + "HP:0011279", + "HP:0002659", + "UPHENO:0002385", "CHEBI:33675", + "UPHENO:0051766", + "HP:0001507", + "CHEBI:37577", + "UPHENO:0066925", + "HP:0012591", + "HP:0000079", + "UPHENO:0077826", + "UPHENO:0002427", + "UPHENO:3000004", + "HP:0020129", + "UPHENO:0046348", + "HP:0006530", + "UPHENO:0002442", + "UPHENO:0002731", + "UPHENO:0010763", + "UBERON:0000915", + "HP:0010996", "UBERON:8450002", "CHEBI:33302", - "GO:0032501", - "UBERON:0013701", - "UBERON:0000025", + "UPHENO:0002269", + "UPHENO:0002909", + "CHEBI:23367", + "HP:0002909", + "UPHENO:0002642", "CHEBI:33256", - "UPHENO:0051900", - "HP:0002049", - "HP:0011014", - "HP:0012599", - "UPHENO:0002332", - "UPHENO:0078554", - "HP:0033127", - "UBERON:0001630", - "CHEBI:35381", - "UBERON:0005181", - "HP:0010966", - "UPHENO:0080659", + "UBERON:0000025", "HP:0001939", + "HP:0000077", + "CHEBI:78616", + "GO:0005739", + "HP:0010966", + "CHEBI:35381", "CHEBI:26082", - "GO:0040007", - "CHEBI:36357", - "UPHENO:0077821", - "UPHENO:0019970", - "CHEBI:33595", - "UPHENO:0081550", - "HP:0002086", - "GO:0001503", - "UBERON:0000062", - "CHEBI:26401", - "HP:0003119", - "GO:0005975", - "HP:0000079", - "GO:0044238", - "GO:0044281", - "CHEBI:37577", - "HP:0002749", - "HP:0001507", - "UPHENO:0068064", - "BFO:0000001", - "UPHENO:0054261", - "CHEBI:26079", - "UBERON:0010000", - "CHEBI:33839", - "UBERON:0001008", - "CHEBI:24833", - "UPHENO:0049874", "UPHENO:0046283", - "CHEBI:16646", - "HP:0000124", - "UPHENO:0067999", - "UPHENO:0068102", - "UPHENO:0082835", - "GO:0006631", - "HP:0003287", - "UPHENO:0020748", - "HP:0004910", - "UPHENO:0051678", - "UBERON:0004111", - "GO:0043227", - "BFO:0000002", - "CHEBI:23367", - "CHEBI:36360", - "UPHENO:0051766", - "CHEBI:24431", - "CHEBI:33318", - "HP:0003111", - "UPHENO:0080555", - "HP:0011015", - "UBERON:0004122", - "UBERON:0002113", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0010795", - "UBERON:0000483", - "UPHENO:0082543", - "UBERON:0005178", - "UBERON:0011216", - "HP:0000001", - "HP:0006530", - "UPHENO:0066927", - "UPHENO:0081440", - "UPHENO:0046348", - "HP:0020129", - "HP:0003076", - "UPHENO:0051847", "HP:0011277", - "UBERON:0005177", - "CHEBI:33241", - "GO:0008152", - "UPHENO:0078592", - "UPHENO:0001002", + "UPHENO:0068491", + "CHEBI:36360", + "HP:0430071", + "UPHENO:0002559", + "UPHENO:0049904", + "UBERON:0001434", + "CHEBI:33917", + "UPHENO:0002525", + "UPHENO:0002870", + "UPHENO:0002964", + "HP:0000119", + "UPHENO:0001003", + "HP:0003149", + "CHEBI:33238", + "UPHENO:0049628", "HP:0003774", - "HP:0004349", - "UPHENO:0050342", "HP:0012603", + "UPHENO:0050065", + "HP:0004349", + "UPHENO:0082834", + "UPHENO:0003022", "BFO:0000040", - "HP:0012211", - "UBERON:0015212", - "UBERON:0001474", - "CHEBI:51151", - "UPHENO:0082875", - "UPHENO:0034276", - "GO:0019752", - "UBERON:0001088", - "UPHENO:0050791", - "UPHENO:0024906", - "HP:0000118", - "UPHENO:0051736", - "UPHENO:0002832", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0002748", - "CHEBI:16541", - "UBERON:0000463", - "CHEBI:18282", - "HP:0003126", - "UBERON:0000178", - "UPHENO:0078646", - "UBERON:0006314", - "CHEBI:33559", - "HP:0040156", - "UBERON:0001015", - "HP:0012606", - "GO:0006144", - "GO:0006629", - "HP:0010996", - "CHEBI:33635", - 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"has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", + "Growth delay", + "delayed growth", + "amino acid level phenotype", + "Elevated urinary carboxylic acid", + "Organic aciduria", + "Abnormal urine amino acid level", "amino acid", - "Abnormal circulating organic compound concentration", - "abnormal mitochondrion", - "molecular entity", - "heteroorganic entity", - "abnormal chemical homeostasis", - "abnormal urine organic anion level", - "Abnormal urine metabolite level", - "abnormal monocarboxylic acid metabolic process", - "primary metabolic process", - "abnormal blood glucose level", - "Decreased plasma carnitine", - "Abnormal lung morphology", - "proximo-distal subdivision of respiratory tract", - "abnormal homeostatic process", - "abnormal anatomical entity morphology in the independent continuant", - "thoracic cavity element", - "multicellular organism", - "respiratory airway", - "pair of lungs", - "regulation of biological quality", - "abnormal respiratory system", - "viscus", - "abnormal respiratory system morphology", - "monocarboxylic acid metabolic process", - "lung fibrosis", - "subdivision of tube", - "abnormality of multicellular organism mass", - "organic substance metabolic process", - "increased level of chemical entity", - "Abnormal cellular physiology", - "inorganic cation", - "epithelial tube", - "increased bodily fluid acid level", - "Bicarbonaturia", - "oxygen molecular entity", - "organooxygen compound", - "Abnormality of fluid regulation", - "Abnormality of the skeletal system", - "lung", - "abnormal independent continuant phosphate level", - "Hypercalciuria", - "s-block element atom", - "metal atom", - "uric acid", - "Stage 5 chronic kidney disease", - "Abnormal urinary electrolyte concentration", - "mesoderm-derived structure", - "non-functional anatomical entity", - "thoracic segment organ", - "skeletal system", - "hydrides", - "increased level of potassium atom in urine", - "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "bone element", - "Decreased bone element mass density", - "Decreased anatomical entity mass density", - "abnormal lung morphology", - "alkaline earth metal atom", - "Abnormal skeletal morphology", - "abnormal glucose homeostasis", - "decreased level of phosphate in independent continuant", - "mancude organic heterobicyclic parent", - "hemolymphoid system", - "delayed biological_process", - "oxoacid", - "carbohydrates and carbohydrate derivatives", - "thoracic segment of trunk", - "increased level of amino acid in independent continuant", - "abnormally decreased functionality of the anatomical entity", - "inorganic molecular entity", - "abdomen element", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Proteinuria", - "abnormal role bodily fluid level", - "abnormal lipid metabolic process", - "blood", - "Metabolic acidosis", - "increased level of glucose in independent continuant", - "aldose", - "lateral structure", - "abnormal phenotype by ontology source", - "abnormal growth", - "main group molecular entity", - "abnormality of renal system physiology", - "monosaccharide", - "nucleobase-containing small molecule metabolic process", - "hematopoietic system", - "purines", - "abnormal purine nucleobase metabolic process", - "heteroatomic molecular entity", - "abnormal genitourinary system", - "Abnormality of urine homeostasis", - "organ system subdivision", - "Aminoaciduria", - "abnormality of respiratory system physiology", - "abnormality of anatomical entity mass", - "polyatomic entity", - "trunk", - "metabolic process", - "carbon group molecular entity", - "carbohydrate metabolic process", - "Pulmonary fibrosis", - "abnormal independent continuant chemical entity level", - "abnormal skeletal system", - "Abnormal renal physiology", - "Weight loss", - "organic cyclic compound", - "Hyperchloremic acidosis", - "organ", - "occurrent", - "Hypoglycemia", - "decreased level of carnitine in independent continuant", - "Chronic kidney disease", - "material anatomical entity", - "muscle structure", - "aldohexose", - "subdivision of organism along main body axis", - "cellular anatomical entity", - "atom", - "genitourinary system", - "renal tubule", - "biological_process", - "increased bodily fluid role level", - "Decreased body weight", - "lipid", - "carbohydrate", - "renal system", - "oxopurine", - "respiratory system", - "abnormal sodium atom level", - "abnormal amino-acid betaine level", - "organochalcogen compound", - "Abnormal homeostasis", - "Abnormal muscle physiology", - "Increased susceptibility to fractures", - "Abnormal respiratory system physiology", - "potassium molecular entity", - "homeostatic process", - "abnormal carbohydrate metabolic process", - "p-block molecular entity", - "abnormal chemical entity level", - "Abnormality of metabolism/homeostasis", + "urine amino acid level phenotype", + "urine glucose level phenotype", + "macromolecule", + "increased level of protein polypeptide chain in urine", + "peptide", + "Abnormal urine protein level", + "Low-molecular-weight proteinuria", + "organic amino compound", + "urine uric acid level phenotype", + "increased level of purines", + "Hyperuricosuria", + "urine hydrogencarbonate level phenotype", + "Abnormality of urine bicarbonate level", + "hydrogencarbonate level phenotype", + "increased level of hydrogencarbonate in urine", + "hydrogencarbonate", + "decreased functionality of the nephron epithelium", + "tissue physiology phenotype", + "increased level of uric acid in urine", + "nephron tubule phenotype", + "decreased functionality of the nephron tubule", + "decreased functionality of the epithelium", "nephron", - "tissue", - "continuant", - "Abnormal circulating nucleobase concentration", - "protein polypeptide chain", - "monoatomic ion homeostasis", - "increased independent continuant role level", - "entity", - "subdivision of trunk", - "pnictogen molecular entity", - "Abnormality of the urinary system", - "Aciduria", - "Osteomalacia", - "Abnormality of the musculature", - "decreased role independent continuant level", - "ossification", - "abnormal carbohydrate homeostasis", - "increased level of calcium atom in urine", - "phosphorus oxoacid derivative", - "abnormal regulation of body fluid levels", "excretory tube", - "compound organ", - "kidney epithelium", - "abnormal urine chemical entity level", - "phosphorus oxoacids and derivatives", - "Abnormal blood phosphate concentration", - "Abnormal bone structure", - "All", - "anatomical collection", - "Abnormality of the respiratory system", - "Abnormality of the urinary system physiology", - "increased level of potassium atom in independent continuant", - "excreta", - "abnormal metabolic process", - "organic oxo compound", - "abnormal acid bodily fluid level", - "regulation of body fluid levels", - "abnormal blood chemical entity level", - "decreased level of chemical entity", - "abnormal anatomical entity", - "Dehydration", - "polyatomic ion", - "Renal insufficiency", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "carboxylic acid metabolic process", - "phosphate", - "abnormal multicellular organism chemical entity level", - "alkali metal cation", - "phosphoric acid derivative", - "abnormal renal system", - "Abnormal circulating metabolite concentration", - "abnormal independent continuant calcium atom level", - "nucleobase", - "increased level of carboxylic acid in urine", - "abnormal musculature", - "hexose", - "multicellular anatomical structure", - "abnormal primary metabolic process", - "body proper", - "increased level of glucose in urine", - "organic acid", - "abnormal metabolite independent continuant level", - "excretory system", - "abnormal small molecule metabolic process", - "abnormal independent continuant monoatomic ion level", - "material entity", - "anatomical entity", - "Decreased multicellular organism mass", - "abnormal independent continuant organic anion level", - "monoatomic entity", + "decreased functionality of the anatomical structure", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "decreased functionality of the tissue", + "decreased functionality of the renal tubule", + "Renal tubular acidosis", + "Renal tubular dysfunction", + "tube phenotype", + "decreased functionality of the tube", + "epithelium", + "decreased functionality of the material anatomical entity", + "renal tubule", + "decreased functionality of the multicellular anatomical structure", + "epithelial tube phenotype", "uriniferous tubule", - "abnormal upper urinary tract", - "abnormal cellular metabolic process", - "musculoskeletal system", - "carnitine", - "cytoplasm", "nephron epithelium", + "renal tubule phenotype", + "muscle structure phenotype", + "decreased anatomical entity strength", + "multicellular organism mass phenotype", + "multicellular anatomical structure mass phenotype", + "Weight loss", + "anatomical entity mass phenotype", + "Decreased body weight", + "decreased anatomical structure mass", + "multicellular organism phenotype", "Abnormality of body weight", - "growth", - "heteropolycyclic compound", - "decreased muscle organ strength", - "bicyclic compound", - "cellular_component", - "abnormal monoatomic ion homeostasis", + "Decreased multicellular organism mass", + "tube physiology phenotype", + "Constitutional symptom", + "Pain", + "anatomical entity dysfunction in independent continuant", + "Abnormal musculoskeletal physiology", + "inorganic ion", + "decreased level of potassium atom in blood", + "Abnormal blood monovalent inorganic cation concentration", + "monovalent inorganic cation", + "Abnormal blood cation concentration", + "inorganic molecular entity", + "anatomical conduit phenotype", + "blood monovalent inorganic cation level phenotype", + "epithelial tube physiology phenotype", + "potassium atom", + "urine potassium atom level phenotype", + "s-block molecular entity", + "intracellular organelle", + "membrane-bounded organelle", + "cellular_component phenotype", + "Abnormality of the mitochondrion", + "musculoskeletal system phenotype", + "Abnormal circulating fatty-acid concentration", + "blood monocarboxylic acid level phenotype", "nephron tubule", "hydrogen molecular entity", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "anatomical entity dysfunction in independent continuant", + "hydroxides", + "oxide", + "intracellular membrane-bounded organelle", + "Abnormal circulating carnitine concentration", "muscle organ", - "dipolar compound", "Increased urinary potassium", - "ammonium betaine", - "increased level of uric acid in independent continuant", - "increased independent continuant base level", - "abnormal calcium atom level", - "musculature of body", - "Abnormality of the upper urinary tract", - "Bone pain", - "decreased anatomical entity strength", - "carbohydrate homeostasis", - "increased level of chemical entity in independent continuant", - "Renal tubular dysfunction", - "abnormal role independent continuant level", - "metal cation", - "decreased level of phosphate in blood", - "abnormal phosphate level", - "tube", - "organic aromatic compound", - "endoderm-derived structure", - "trunk region element", - "Abnormal pulmonary interstitial morphology", - "Renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", - "upper urinary tract", - "Abnormal respiratory system morphology", - "multicellular organismal process", - "abnormal blood phosphate level", - "obsolete cellular aromatic compound metabolic process", - "organ part", - "Muscle weakness", - "organism substance", - "Bicarbonate-wasting renal tubular acidosis", - "increased level of calcium atom in independent continuant", - "increased independent continuant acid level", - "biological regulation", - "abdominal segment of trunk", - "abnormal urine calcium atom level", - "abnormality of kidney physiology", - "epithelium", - "respiratory tract", - "organism subdivision", - "organic ion", - "phosphorus molecular entity", - "anatomical structure", - "Abnormal circulating carbohydrate concentration", - "musculature", - "calcium atom", - "decreased role blood level", - "anatomical conduit", - "Acidosis", - "purine", - "decreased anatomical entity mass", - "abdomen", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "skeletal element", - "cavitated compound organ", - "abnormal bone element mass density", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", + "dipolar compound", + "oxoanion", + "muscle organ physiology phenotype", "Abnormal cellular phenotype", - "Abnormal glucose homeostasis", - "abnormal urine phosphate level", - "bodily fluid", - "glucose homeostasis", - "process", - "abnormal independent continuant glucose level", - "Abnormal blood glucose concentration", - "organonitrogen compound metabolic process", - "abnormal role urine level", - "haemolymphatic fluid", - "abnormal hematopoietic system", - "abnormal independent continuant sodium atom level", - "oxoacid derivative", - "Abnormal urine sodium concentration", - "lower respiratory tract", - "abnormal independent continuant nitrogen molecular entity level", - "sodium atom", - "Renal sodium wasting", - "delayed growth", - "decreased level of carnitine in blood", - "alkali metal atom", - "Abnormal musculoskeletal physiology", - "Abnormal urine potassium concentration", - "abnormal blood monoatomic ion level", - "intracellular anatomical structure", - "decreased level of uric acid in independent continuant", - "Azotemia", - "decreased level of chemical entity in blood", - "decreased level of chemical entity in independent continuant", - "Abnormality of mitochondrial metabolism", - "Decreased anatomical entity mass", - "inorganic ion homeostasis", - "Hypophosphatemia", - "Renal phosphate wasting", - "Abnormal circulating monocarboxylic acid concentration", - "Hypophosphatemic rickets", - "Abnormal blood ion concentration", - "elemental molecular entity", - "ion", - "fatty acid", - "Abnormality of urine calcium concentration", - "organic cyclic compound metabolic process", - "phosphate ion homeostasis", - "Hypouricemia", - "cellular metabolic process", - "obsolete nitrogen compound metabolic process", - "small molecule metabolic process", - "obsolete heterocycle metabolic process", - "non-functional kidney", - "heterocyclic organic fundamental parent", - "chemical entity", + "amino acid derivative level phenotype", "Abnormal circulating carboxylic acid concentration", - "abnormal nucleobase metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "nucleobase-containing compound metabolic process", - "Decreased circulating purine concentration", - "anatomical system", - "mitochondrion", - "abnormal independent continuant carnitine level", - "Hypokalemia", - "abnormal cellular process", - "Abnormal circulating carnitine concentration", - "mancude ring", - "elemental potassium", - "increased level of purines in independent continuant", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "decreased level of uric acid in blood", - "decreased multicellular organism mass", - "abnormal blood uric acid level", - "s-block molecular entity", - "Abnormal urine phosphate concentration", - "organic hydride", - "Abnormality of urinary uric acid level", - "aromatic compound", - "nitrogen molecular entity", - "polycyclic compound", - "respiration organ", - "abnormality of muscle organ physiology", - "organic molecule", - "cyclic compound", - "mancude organic heterocyclic parent", - "Abnormal circulating purine concentration", - "Abnormal urine protein level", - "cellular process", - "amino-acid betaine", "increased level of organic acid in urine", - "phenotype", - "decreased level of potassium atom in independent continuant", - "nucleobase metabolic process", - "main group element atom", + "amino-acid betaine", + "monocarboxylic acid", + "cell", + "Abnormal blood potassium concentration", + "carbon oxoacid", + "monocarboxylic acid anion", + "carbonyl compound", + "zwitterion", + "blood fatty acid anion level phenotype", + "Decreased circulating carnitine concentration", + "amino acid derivative", + "nephron epithelium phenotype", + "quaternary nitrogen compound", + "polyatomic anion", + "fatty acid anion", + "carboxylic acid", + "muscle structure physiology phenotype", + "lipid level phenotype", + "Abnormality of mitochondrial metabolism", "molecule", - "abnormal biological_process", - "kidney", - "Growth delay", - "organic mancude parent", - "Reduced bone mineral density", - "abnormal blood nitrogen molecular entity level", - "Abnormality of the kidney", - "abnormal independent continuant carbohydrate level", - "decreased level of purines", "cation", - "purine nucleobase metabolic process", - "Abnormality of the genitourinary system", - "organic heterocyclic compound", - "heterobicyclic compound", - "abnormal independent continuant uric acid level", - "abnormal blood carnitine level", + "decreased level of purines", + "blood nitrogen molecular entity level phenotype", "increased level of chemical entity in blood", - "heteroarene", - "organic molecular entity", - "abnormal anatomical entity mass density", - "increased level of organic molecular entity in independent continuant", - "organic heteropolycyclic compound", - "organonitrogen heterocyclic compound", - "abnormal fatty acid metabolic process", - "onium betaine", - "glucose", - "fatty acid anion", - "polyatomic anion", - "urine", - "Abnormality of acid-base homeostasis", - "quaternary nitrogen compound", - "increased level of monosaccharide in independent continuant", - "Hyperchloremic metabolic acidosis", - "amino acid derivative", - "cellular lipid metabolic process", - "cellular modified amino acid metabolic process", - "organic fundamental parent", - "organic acid metabolic process", - "lipid metabolic process", - "quality", - "carboxylic acid", - "abnormal amino acid derivative level", - "phenotype by ontology source", - "oxoanion", - "carboxylic acid anion", - "abnormal cellular_component", - "abnormal carboxylic acid metabolic process", + "blood nucleobase level phenotype", + "Azotemia", + "cyclic compound", + "organic molecule", + "polycyclic compound", + "nitrogen molecular entity", + "aromatic compound", "Abnormal circulating nitrogen compound concentration", - "intracellular membrane-bounded organelle", - "oxide", - "organic anion", - "hydroxides", - "heterocyclic compound", - "abnormal cell", - "Abnormal circulating fatty-acid anion concentration", - "abnormal carnitine metabolic process", - "abnormal role blood level", - "organelle", + "blood uric acid level phenotype", + "decreased level of uric acid in blood", + "imidazopyrimidine", + "growth", + "heteropolycyclic compound", + "heterobicyclic compound", + "organic heterocyclic compound", + "increased level of nitrogen molecular entity in blood", + "decreased functionality of the excretory tube", + "organonitrogen heterocyclic compound", + "Hypouricemia", + "increased level of chemical entity in bodily fluid", + "monoatomic entity", + "monoatomic ion", + "decreased level of chemical entity in blood", + "blood cation level phenotype", + "blood monoatomic ion level phenotype", + "Hypophosphatemic rickets", "Abnormal urine carboxylic acid level", - "Abnormal circulating fatty-acid concentration", - "fatty acid metabolic process", - "Abnormality of bone mineral density", - "organic heterobicyclic compound", - "hydrogencarbonate", - "oxoacid metabolic process", - "abnormal urine sodium atom level", - "carboxamide", - "Generalized aminoaciduria", - "amino-acid betaine metabolic process", - "intracellular organelle", - "membrane-bounded organelle", - "anion", + "decreased level of chemical entity", + "ion", + "cavitated compound organ", + "skeletal element", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "organic heteropolycyclic compound", + "blood organic molecular entity level phenotype", + "trunk region element phenotype", + "mitochondrion phenotype", + "abdominal segment of trunk", + "trunk region element", + "amide", + "chemical entity level phenotype", + "decreased functionality of the anatomical conduit", + "Chronic kidney disease", + "muscle structure", + "lipid", + "material anatomical entity", + "Hypoglycemia", + "Abnormality of the kidney", + "cavitated compound organ physiology phenotype", + "organic molecular entity", + "abdomen element", + "abdominal segment element physiology phenotype", + "Abnormality of urinary uric acid level", + "abdominal segment element phenotype", + "biological_process phenotype", + "main body axis", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "intracellular anatomical structure", + "heteroatomic molecular entity", + "Aciduria", + "Abnormality of the urinary system", + "amino-acid betaine level phenotype", + "excretory system", + "abdomen element phenotype", + "p-block molecular entity", + "excretory tube physiology phenotype", + "homeostatic process", + "material anatomical entity mass phenotype", + "Abnormal respiratory system physiology", + "Abnormal muscle physiology", + "Increased susceptibility to fractures", + "Abnormal homeostasis", + "organochalcogen compound", + "renal system physiology phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", "decreased level of amino-acid betaine", - "Abnormality of the mitochondrion", - "primary amide", - "carnitine metabolic process", - "zwitterion", - "carbonyl compound", - "monocarboxylic acid anion", - "purine-containing compound metabolic process", - "carbon oxoacid", + "multicellular organism morphology phenotype", + "trunk", + "chemical entity", + "phosphorus molecular entity", + "organic oxo compound", + "excreta", + "carboxylic acid anion", + "multicellular anatomical structure physiology phenotype", + "genitourinary system", + "atom", + "regulation of body fluid levels", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "respiration organ phenotype", + "uric acid", + "metal atom", + "organism substance", + "trunk region element physiology phenotype", + "homeostatic process phenotype", + "viscus", + "main group molecular entity", + "urine phosphate level phenotype", + "material anatomical entity physiology phenotype", + "polyatomic entity", + "Abnormal blood ion concentration", + "taxon specific phenotype", + "aldohexose", + "tissue", + "anatomical system physiology phenotype", + "Bone pain", + "Abnormality of the upper urinary tract", + "phosphate level phenotype", + "Proteinuria", + "protein-containing material entity", + "thoracic segment organ phenotype", + "phosphate", + "Growth abnormality", + "anatomical entity morphology phenotype", + "musculoskeletal system physiology phenotype", + "Abnormal skeletal morphology", + "alkaline earth metal atom", + "skeletal system phenotype", + "protein polypeptide chain", + "Abnormal circulating nucleobase concentration", + "continuant", + "muscle organ phenotype", + "anatomical structure", + "decreased role blood level", + "musculature", + "polypeptide", + "organic ion", + "Abnormality of bone mineral density", + "anatomical conduit", + "musculature of body", + "organic cyclic compound", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "entity", + "Decreased anatomical entity mass density", + "main group element atom", + "Abnormality of the musculoskeletal system", + "renal/urinary system phenotype", + "anatomical entity", + "Hypokalemia", + "mitochondrion", + "anatomical structure phenotype", + "urine organic anion level phenotype", + "Abnormality of the genitourinary system", + "phosphoric acid derivative", + "quality", + "Reduced bone mineral density", + "Renal insufficiency", + "anatomical entity fibrosis", + "Abnormality of metabolism/homeostasis", + "polyatomic ion", + "Dehydration", + "heteroarene", + "anatomical system phenotype", + "kidney epithelium", "obsolete cell", - "Abnormal blood potassium concentration", - "cell", - "monocarboxylic acid", - "chalcogen molecular entity", - "abnormal potassium atom level", - "abnormal independent continuant potassium atom level", + "Abnormal blood phosphate concentration", + "compound organ", + "phosphorus oxoacids and derivatives", + "anion", + "organ physiology phenotype", + "phenotypic effect", + "Aminoaciduria", + "organ system subdivision", + "lateral structure", + "purines", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "bone element", + "abdomen element physiology phenotype", + "anatomical structure physiology phenotype", + "organonitrogen compound", + "anatomical entity phenotype", + "mesoderm-derived structure phenotype", + "increased level of calcium atom in urine", "chemical homeostasis", - "main body axis", - "potassium atom", + "organic anion", + "anatomical entity physiology phenotype", + "increased level of carboxylic acid in urine", + "nucleobase", + "Abnormal urine phosphate concentration", + "Generalized aminoaciduria", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "heterocyclic compound", + "skeletal system", + "lateral structure physiology phenotype", + "cavitated compound organ phenotype", + "cellular anatomical entity", + "blood carboxylic acid level phenotype", + "Renal phosphate wasting", + "Glycosuria", + "abdominal segment element", "Abnormal bone ossification", - "abnormal urine potassium atom level", - "abnormal kidney", - "Abnormal blood cation concentration", - "Abnormal blood monovalent inorganic cation concentration", - "abnormal urine hydrogencarbonate level", - "alkali metal molecular entity", - "abnormal blood potassium atom level", - "monovalent inorganic cation", - "monoatomic monocation", - "monoatomic cation", - "increased level of nitrogen molecular entity in blood", - "abnormal monoatomic cation homeostasis", - "polypeptide", - "decreased level of potassium atom in blood", - "monoatomic cation homeostasis", - "inorganic ion", - "abnormal blood potassium(1+) level", - "potassium(1+)", - "Growth abnormality", - "abnormality of musculoskeletal system physiology", - "abnormal independent continuant carboxylic acid level", - "carbon oxoanion", - "Constitutional symptom", - "anatomical entity fibrosis", - "Pain", - "independent continuant", + "increased level of potassium atom in urine", + "blood", + "kidney physiology phenotype", + "multicellular organismal process", + "Muscle weakness", + "organ part", + "multicellular anatomical structure", + "lung morphology phenotype", + "specifically dependent continuant", + "organ", + "occurrent", + "Decreased bone element mass density", + "decreased functionality of the epithelial tube", "Abnormal urine pH", - "abnormal hydrogencarbonate level", - "increased level of hydrogencarbonate in urine", - "imidazopyrimidine", - "increased level of hydrogencarbonate in independent continuant", - "Abnormal urinary organic compound level", - "Abnormality of urine bicarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "Hyperuricosuria", - "Rickets", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal urine uric acid level", - "abnormal acid independent continuant level", - "organic amino compound", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "amide", - "increased level of protein polypeptide chain in independent continuant", - "increased level of protein polypeptide chain in urine", - "macromolecule", - "peptide", - "abnormal urine glucose level", - "increased level of monosaccharide in urine", - "abnormal amino acid level", - "increased level of uric acid in urine", + "bone element phenotype", + "acid bodily fluid level phenotype", + "carbohydrate", + "biological_process", + "material entity", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", + "oxopurine", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", "increased level of amino acid in urine", - "monoatomic ion", - "abnormal urine amino acid level", - "Organic aciduria", - "increased level of organic acid in independent continuant", - "Elevated urinary carboxylic acid", - ], - }, - { - "id": "MONDO:0100238", - "category": "biolink:Disease", - "name": "inherited Fanconi renotubular syndrome", - "xref": ["OMIMPS:134600"], - "provided_by": "phenio_nodes", - "description": "An instance of Fanconi renotubular syndrome that is inherited.", - "synonym": ["hereditary Fanconi renotubular syndrome"], - "namespace": "MONDO", - "has_phenotype_count": 0, - }, - { - "id": "MONDO:0013247", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 2", - "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], - "provided_by": "phenio_nodes", - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", - "synonym": [ - "FRTS2", - "Fanconi renotubular syndrome 2", - "Fanconi renotubular syndrome type 2", - "Fanconi syndrome caused by mutation in SLC34A1", - "SLC34A1 Fanconi syndrome", + "compound organ phenotype", + "independent continuant", + "Proximal renal tubular acidosis", + "abdomen", + "skeletal element phenotype", + "organ phenotype", + "lung fibrosis", + "material anatomical entity phenotype", + "calcium atom level phenotype", + "Bicarbonate-wasting renal tubular acidosis", + "cell phenotype", + "skeletal system morphology phenotype", + "decreased material anatomical entity mass", + "subdivision of organism along main body axis", + "ammonium betaine", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "musculature phenotype", + "regulation of body fluid levels phenotype", + "oxoacid derivative", + "compound organ physiology phenotype", + "subdivision of trunk", + "growth phenotype", + "blood lipid level phenotype", + "Abnormal respiratory system morphology", + "organism subdivision", + "epithelium phenotype", + "organ system subdivision phenotype", + "respiratory tract", + "organelle", + "upper urinary tract phenotype", + "Acidosis", + "excretory tube phenotype", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "urine sodium atom level phenotype", + "Abnormal circulating carbohydrate concentration", + "aldose", + "glucose", + "bodily fluid", + "thoracic cavity element phenotype", + "Abnormal glucose homeostasis", + "onium betaine", + "Hyperchloremic metabolic acidosis", + "Metabolic acidosis", + "organic aromatic compound", + "Abnormality of acid-base homeostasis", + "fatty acid level phenotype", + "tube", + "process", + "urine calcium atom level phenotype", + "multicellular organism", + "hematopoietic system", + "thoracic cavity element", + "blood carnitine level phenotype", + "carnitine", + "cytoplasm", + "musculoskeletal system", + "respiratory system morphology phenotype", + "decreased multicellular anatomical structure mass", + "fatty acid", + "All", + "anatomical collection", + "thoracic segment organ", + "lower respiratory tract", + "lung phenotype", + "endoderm-derived structure", + "regulation of biological quality", + "pair of lungs", + "Bicarbonaturia", + "respiration organ", + "Abnormality of the musculature", + "thoracic segment of trunk", + "carbohydrates and carbohydrate derivatives", + "metabolic process", + "endoderm-derived structure phenotype", + "decreased muscle organ strength", + "cellular_component", + "bicyclic compound", + "biological regulation phenotype", + "respiratory system phenotype", + "Pulmonary fibrosis", + "carbon group molecular entity", + "anatomical entity morphology in the respiratory system phenotype", + "tissue phenotype", + "Abnormal circulating organic compound concentration", + "epithelial tube", + "respiratory system", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "Abnormal pulmonary interstitial morphology", + "respiratory airway", + "subdivision of tube", + "monosaccharide", + "glucose homeostasis", + "carbon oxoanion", + "renal system phenotype", + "respiratory system physiology phenotype", + "potassium atom level phenotype", + "viscus phenotype", + "Rickets", + "hemolymphoid system", + "chemical homeostasis phenotype", + "carbohydrate homeostasis", + "blood carbohydrate level phenotype", + "blood chemical entity level phenotype", + "blood potassium atom level phenotype", + "Abnormal circulating fatty-acid anion concentration", + "hematopoietic system phenotype", + "kidney phenotype", + "blood oxygen molecular entity level phenotype", + "decreased functionality of the anatomical entity", + "lateral structure phenotype", + "role blood level phenotype", + "sodium atom", + "heteroorganic entity", + "organooxygen compound", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "organic heterobicyclic compound", + "glucose homeostasis phenotype", + "urine chemical entity level phenotype", + "oxygen molecular entity", + "Abnormality of the skeletal system", + "lung", + "Abnormality of fluid regulation", + "Abnormal renal physiology", + "chalcogen molecular entity", + "role bodily fluid level phenotype", + "hexose", + "epithelium physiology phenotype", + "blood glucose level phenotype", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "Abnormal blood glucose concentration", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "role urine level phenotype", + "Decreased anatomical entity mass", + "s-block element atom", + "Hypercalciuria", + "inorganic cation", + "Abnormal cellular physiology", + "increased level of chemical entity", + "increased urine role level", + "decreased functionality of the kidney epithelium", + "calcium atom", + "Abnormality of urine calcium concentration", + "anatomical structure mass phenotype", + "increased level of chemical entity in urine", + "proximo-distal subdivision of respiratory tract", + "biological regulation", + "Abnormal urinary organic compound level", + "blood fatty acid level phenotype", + "regulation of biological quality phenotype", + "multicellular anatomical structure phenotype", + "Abnormal urine sodium concentration", + "sodium atom level phenotype", + "Abnormal urine potassium concentration", + "bone element mass density phenotype", + "carbohydrate homeostasis phenotype", + "alkali metal atom", + "increased level of glucose in urine", + "nitrogen molecular entity level phenotype", + "body proper", + "blood phosphate level phenotype", + "primary amide", + "elemental molecular entity", + ], + }, + { + "id": "MONDO:1011503", + "category": "biolink:Disease", + "name": "Fanconi syndrome, dog", + "description": "Fanconi syndrome that occurs in dog.", + "provided_by": "phenio_nodes", + "xref": ["OMIA:000366-9615"], + "namespace": "MONDO", + "has_phenotype_count": 0, + }, + { + "id": "MONDO:0030056", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 5", + "provided_by": "phenio_nodes", + "xref": ["DOID:0080761", "GARD:16392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"], + "synonym": [ + "FANCONI RENOTUBULAR SYNDROME 5", + "FRTS5", + "Fanconi Renotubular Syndrome, Acadian Variant", + "Fanconi renotubular syndrome 5", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0000117", - "HP:0002749", + "HP:0003774", + "HP:0004918", "HP:0002148", - "HP:0000114", - "HP:0002757", - "HP:0002748", - "HP:0000938", - "HP:0002909", - "HP:0031415", + "HP:0002206", + "HP:0004912", + "HP:0002857", + "HP:0045051", "HP:0000093", "HP:0003076", - "HP:0003165", - "HP:0004322", - "HP:0002653", - "HP:0012213", - "HP:0000083", - "HP:0002150", + "HP:0002097", + "HP:0030078", + "HP:0003355", + "HP:0005576", + "HP:0000822", ], "has_phenotype_label": [ - "Renal phosphate wasting", - "Osteomalacia", + "Stage 5 chronic kidney disease", + "Hyperchloremic metabolic acidosis", "Hypophosphatemia", - "Proximal tubulopathy", - "Recurrent fractures", - "Rickets", - "Osteopenia", - "Generalized aminoaciduria", - "High serum calcitriol", + "Pulmonary fibrosis", + "Hypophosphatemic rickets", + "Genu valgum", + "Decreased DLCO", "Proteinuria", "Glycosuria", - "Elevated circulating parathyroid hormone level", - "Short stature", - "Bone pain", - "Decreased glomerular filtration rate", - "Renal insufficiency", - "Hypercalciuria", + "Emphysema", + "Lung adenocarcinoma", + "Aminoaciduria", + "Tubulointerstitial fibrosis", + "Hypertension", ], - "has_phenotype_count": 17, + "has_phenotype_count": 14, "has_phenotype_closure": [ - "HP:0011280", - "UPHENO:0068134", - "UPHENO:0046344", - "HP:0002150", - "UPHENO:0051678", - "HP:0025142", - "UPHENO:0020584", - "GO:0040007", - "HP:0004322", - "UPHENO:0049874", - "UPHENO:0081424", - "UPHENO:0000541", - "HP:0001510", - "UPHENO:0069254", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0075159", - "UPHENO:0051936", - "HP:0012337", - "UPHENO:0077826", - "HP:0001948", - "UPHENO:0068174", - "UPHENO:0051648", - "UPHENO:0068971", - "CHEBI:33695", - "UPHENO:0051741", - "UPHENO:0082943", - "PR:000064867", - "UPHENO:0068477", - "CHEBI:33694", - "UBERON:0001969", - "UPHENO:0082536", - "UPHENO:0068472", - "UPHENO:0068068", - "HP:0002152", - "HP:0004360", - "UPHENO:0068442", - "PR:000018263", - "PR:000000001", - "UPHENO:0068104", - "UPHENO:0081550", - "HP:0012212", - "UBERON:0001977", - "UPHENO:0051635", - "UPHENO:0080658", - "UPHENO:0068054", - "HP:6000531", - "CHEBI:33917", - "CHEBI:18133", - "CHEBI:17234", - "HP:0010876", - "CHEBI:35381", - "UPHENO:0052116", - "UPHENO:0068247", - "UPHENO:0068565", - "CHEBI:16541", - "CHEBI:32988", - "UPHENO:0051801", - "CHEBI:15841", - "CHEBI:16670", - "PR:000013429", - "HP:0100508", - "UPHENO:0049873", + "HP:0002597", + "UBERON:0000055", + "UPHENO:0002678", + "HP:0030972", + "UPHENO:0002576", + "UBERON:0000477", + "HP:0000822", + "HP:0001626", + "UBERON:0002049", + "UBERON:0004535", + "UBERON:0001981", "UBERON:0034923", - "UPHENO:0051628", - "UPHENO:0068047", - "HP:0000818", - "CHEBI:26191", - "CHEBI:35350", - "CHEBI:22313", - "CHEBI:51958", - "UPHENO:0081547", - "UPHENO:0048763", - "HP:0430071", - "UPHENO:0051680", - "UBERON:0015204", - "UPHENO:0050116", - "CHEBI:33822", - "CHEBI:33832", - "CHEBI:78616", - "HP:0000077", + "UBERON:0000479", + "UPHENO:0087427", "UBERON:0001231", - "UBERON:0011143", - "GO:0048878", - "UPHENO:0080352", - "UBERON:0000179", - "CHEBI:27136", - "BFO:0000004", - "UPHENO:0066739", - "UPHENO:0075902", - "UPHENO:0049618", - "CHEBI:33259", - "UPHENO:0034217", - "UPHENO:0051630", - "UPHENO:0034253", + "UBERON:0004819", + "HP:0030760", + "UPHENO:0076779", + "HP:0000091", + "UPHENO:0076714", + "HP:0012210", + "UBERON:0009773", + "UBERON:0007684", + "UBERON:0004211", + "UPHENO:0051739", + "HP:0003355", + "CHEBI:33674", + "UBERON:0004537", + "UPHENO:0046286", + "UPHENO:0068169", + "HP:0031980", + "CHEBI:33709", + "CHEBI:24651", + "CHEBI:72695", + "CHEBI:36586", + "HP:0032943", + "HP:0030358", + "HP:0100526", + "HP:0012072", + "HP:0030078", + "HP:0011793", + "CHEBI:33575", + "MPATH:596", + "MPATH:14", + "HP:0002097", + "MPATH:25", + "HP:0025745", + "CHEBI:18133", + "CHEBI:17234", + "UPHENO:0068054", + "CHEBI:35381", + "MPATH:31", + "CHEBI:16646", "HP:0000093", - "GO:0055062", - "UBERON:0000468", - "UBERON:0002417", - "UPHENO:0051960", - "CHEBI:24870", - "UBERON:0000064", - "HP:0012531", - "GO:0050801", - "HP:0000083", - "GO:0032501", - "GO:1901360", - "HP:0004364", - "UPHENO:0078589", - "UPHENO:0078628", - "HP:0012213", - "PR:000050567", - "BFO:0000003", - "HP:0002148", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0050080", - "GO:0001503", - "HP:0000118", - "UBERON:0001434", - "UPHENO:0084653", - "CHEBI:73558", - "UPHENO:0049628", - "CHEBI:33238", - "CHEBI:35788", - "HP:0004349", - "HP:0033405", - "BFO:0000040", - "HP:0100530", - "UPHENO:0034391", - "UPHENO:0051640", - "UPHENO:0081546", - "UPHENO:0068049", + "CHEBI:15693", + "UPHENO:0081544", + "UPHENO:0051686", + "HP:0032581", + "CHEBI:36962", + "MPATH:0", + "CHEBI:25806", + "CHEBI:50860", "CHEBI:51143", - "UPHENO:0080638", - "UPHENO:0002964", - "UPHENO:0080643", - "UBERON:0011216", - "UPHENO:0082875", - "UBERON:0001474", - "UBERON:0002100", - "HP:0003330", - "UBERON:0000467", - "UBERON:0004765", + "CHEBI:16541", + "UPHENO:0048707", + "UPHENO:0046383", + "HP:0033354", + "CHEBI:37622", + "CHEBI:50047", + "CHEBI:16670", + "CHEBI:15841", + "CHEBI:36963", + "CHEBI:33285", + "CHEBI:35352", + "UBERON:0001088", + "CHEBI:36587", + "UPHENO:0089294", + "HP:0045049", + "HP:0045051", + "RO:0002577", + "UPHENO:0003070", + "UPHENO:0031166", + "HP:0040064", + "UPHENO:0041226", + "UPHENO:0031228", + "UBERON:0010912", + "UBERON:0000075", + "UPHENO:0075945", + "UPHENO:0031220", + "HP:0002815", + "UPHENO:0084767", + "UPHENO:0076756", + "CHEBI:25367", + "UPHENO:0003005", + "HP:0100606", + "UPHENO:0084763", + "HP:0002814", + "UBERON:0004381", + "UPHENO:0068144", + "UBERON:0010707", + "UPHENO:0002926", + "UPHENO:0003065", + "UPHENO:0087462", + "UPHENO:0002593", + "UPHENO:0086628", + "UBERON:0010758", + "HP:0011844", + "UBERON:0004709", + "CHEBI:33608", + "HP:0000940", + "UPHENO:0002830", + "UPHENO:0031323", + "HP:0002664", + "UPHENO:0031123", + "UPHENO:0002983", + "UBERON:0034944", + "UPHENO:0076767", + 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"UBERON:0013702", - "CHEBI:33304", - "BFO:0000020", - "CHEBI:23367", - "UPHENO:0012541", - "CHEBI:36360", - "UPHENO:0068491", - "BFO:0000002", - "HP:0011277", - "GO:0071704", - "UPHENO:0051937", - "CHEBI:33709", - "CHEBI:35605", - "UPHENO:0082534", - "HP:0002749", + "UBERON:0000178", + "HP:0000118", "CHEBI:33839", "CHEBI:26079", - "HP:0031415", - "GO:0042592", - "UBERON:0000489", - "UPHENO:0082538", - "UPHENO:0082539", - "UPHENO:0001003", - "UBERON:0004120", - "UPHENO:0068538", - "HP:0001507", - "CHEBI:37577", - "HP:0012591", - "HP:0000079", - "HP:0003119", - "UBERON:0000062", - "UPHENO:0049904", - "UPHENO:0046362", - "UPHENO:0046291", - "UPHENO:0003116", - "UPHENO:0051804", - "CHEBI:33250", - "UBERON:0002113", - "HP:0000117", - "UPHENO:0077821", - "CHEBI:36357", - "UPHENO:0004459", - "GO:0098771", - "CHEBI:26082", - "CHEBI:17823", + "CHEBI:24833", + "UBERON:0001008", + "HP:0002148", + "UBERON:0007798", + "CHEBI:33304", + "HP:0002813", + "UBERON:0013702", + "UBERON:0002417", + "UBERON:0000468", "HP:0001939", - "HP:0033127", - "UPHENO:0075696", - "HP:0011842", - "HP:0012599", + "UPHENO:0087993", + "GO:0008152", + "UPHENO:0049587", + "UPHENO:0002385", + "HP:0004360", + "HP:0004918", + "HP:0001871", + "BFO:0000003", + "PR:000050567", "BFO:0000015", - "HP:0032180", - "UPHENO:0068091", - "CHEBI:37622", - "GO:0006775", - "HP:0032369", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0068169", - "CHEBI:33675", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0080659", - "UPHENO:0051668", - "CHEBI:33579", - "HP:0000119", - "UPHENO:0082542", + "HP:0011025", + "HP:0001969", + "UBERON:0005055", + "HP:0012337", + "UPHENO:0001003", + "UBERON:0010740", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0002267", + "HP:0012622", + "UPHENO:0031276", + "UPHENO:0034351", + "UPHENO:0084654", + "UBERON:0006058", + "UPHENO:0002731", + "UPHENO:0002442", + "UBERON:0000915", + "UBERON:0011249", + "UPHENO:0002386", + "CHEBI:33917", + "UBERON:0004375", + "UPHENO:0068491", + "CHEBI:36360", + "BFO:0000020", + "UBERON:0000916", + "MPATH:1000", + "CHEBI:33302", + "UPHENO:0002269", + "UBERON:8450002", + "UBERON:0006314", + "UPHENO:0002406", + "BFO:0000040", + "UPHENO:0082834", + "UBERON:0015212", + "HP:0012211", + "UBERON:0004770", + "UBERON:0001015", + "UPHENO:0003088", + "UPHENO:0002530", + "UPHENO:0001002", + "UBERON:0000978", "HP:0100529", - "CHEBI:35352", - "UPHENO:0051686", - "UPHENO:0001005", - "GO:0044281", - "UBERON:0001088", - "CHEBI:33318", - "CHEBI:24431", + "UPHENO:0002963", + "UPHENO:0075902", + "UPHENO:0066739", + "HP:0100491", + "UPHENO:0002642", + "UPHENO:0001001", + "UPHENO:3000004", + "UPHENO:0002427", "HP:0003111", - "UBERON:0001062", + "CHEBI:24431", + "UPHENO:0002246", + "UPHENO:0002526", + "UPHENO:0004536", + "HP:0006487", + "HP:0012575", + "UPHENO:0002360", + "UBERON:0000026", + "UBERON:0000179", + "BFO:0000004", + "UBERON:0001285", + "UBERON:0013701", + "UPHENO:0002909", + "UPHENO:0002976", + "CHEBI:37577", + "UBERON:0000062", + "UBERON:0000489", + "CHEBI:33582", + "UBERON:0000465", + "HP:0000119", + "UBERON:0002101", + "UPHENO:0002964", + "HP:0020129", + "UPHENO:0046348", + "HP:0006530", + "HP:0034669", "UPHENO:0051763", + "UPHENO:0003049", "GO:0008150", - "UPHENO:0068064", - "CHEBI:72695", - "HP:0011849", - "UPHENO:0048707", - "UPHENO:0051847", + "GO:0032501", + "HP:0000083", + "UBERON:0005172", + "HP:0011277", + "UPHENO:3000003", + "BFO:0000002", + "UPHENO:0002643", + "HP:0001942", + "UPHENO:0076740", + "UPHENO:0076294", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0000072", + "UBERON:0000061", "UBERON:0005177", - "UPHENO:0068533", - "CHEBI:47042", "UBERON:0005173", - "UPHENO:0068495", - "CHEBI:16646", - "HP:0000124", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", - "HP:0003165", - "UBERON:0001285", - "UBERON:0013701", + "UPHENO:0031302", + "CHEBI:23367", + "UBERON:0003657", + "UPHENO:0002308", + "HP:0005576", + "UBERON:0001005", "UBERON:0009569", - "CHEBI:24651", - "BFO:0000001", - "CHEBI:35341", - "CHEBI:36853", - "UBERON:0004819", - "UBERON:0000483", - "UBERON:0004122", - "HP:0010935", - "UPHENO:0076285", - "UBERON:0015212", - "HP:0012211", - "HP:0033331", - "UBERON:0006555", - "UPHENO:0024906", - "UPHENO:0002411", - "UPHENO:0051864", - "UBERON:0000916", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0009773", - "UPHENO:0052038", - "UBERON:0005172", - "UBERON:0002390", + "UPHENO:0002525", + "UPHENO:0002870", + "UBERON:0001009", + "UPHENO:0003094", + "HP:0003774", + "UPHENO:0031271", "HP:0001992", - "HP:0003117", + "UBERON:0002390", "UPHENO:0051709", "UBERON:0010000", - "UPHENO:0066943", - "UBERON:0000479", + "HP:0010935", + "UPHENO:0002783", + "UBERON:0004122", + "UPHENO:0082875", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0003086", + "UPHENO:0049904", + "UPHENO:0002559", + "HP:0000001", + "UBERON:0011216", + "UBERON:0005178", + "CHEBI:32988", + "UPHENO:0081581", + "UBERON:0004111", + "HP:0032263", + "UPHENO:0046284", + "UPHENO:0002426", + "UPHENO:0002377", + "UBERON:0004120", + "HP:0004349", + "UPHENO:0002861", + "UPHENO:0002554", + "BFO:0000001", + "CHEBI:78616", + "HP:0000077", + "UPHENO:0068565", + "UPHENO:0002750", + "UPHENO:0068110", + "UBERON:0003103", + "CHEBI:36357", + "CHEBI:33259", + "UPHENO:0002600", + "CHEBI:24870", + "UBERON:0000064", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", + "UBERON:0004769", + "CHEBI:26082", + "UPHENO:0031122", + "UPHENO:0002679", + "UBERON:0005913", + "HP:0002795", + "GO:0042592", + "UBERON:0034925", + "UBERON:0005181", + "UBERON:0002075", + "HP:0002086", + "GO:0001503", + "HP:0032180", + "UBERON:0000065", + "UBERON:0004119", + "UBERON:0000170", + "UBERON:0008784", + "UPHENO:0031142", + "HP:0002981", + "UPHENO:0002411", + "UPHENO:0003084", + "UBERON:0004905", + "PATO:0000001", + "HP:0002088", + "UBERON:0001062", + "UPHENO:0002574", + "UBERON:0010363", + "UPHENO:0002885", + "UPHENO:0002536", + "UPHENO:0076692", + "UBERON:0000171", + "UPHENO:0002448", + "UPHENO:0076299", + "UPHENO:0034253", + "UBERON:0010712", + "UBERON:0002048", + "UBERON:0001558", "UBERON:0000475", - "UPHENO:0076293", - "HP:0032245", - "HP:0002757", - "HP:0002659", - "HP:0011843", + "UPHENO:0087433", + "HP:0002206", + "UBERON:0001004", + "UPHENO:0086908", "UBERON:0002204", - "UPHENO:0081440", - "HP:0032943", + "UPHENO:0002754", + "HP:0012252", + "HP:0003076", + "UBERON:0013522", + "UBERON:0010538", + "UBERON:0000174", + "HP:0000924", + "HP:0003330", + "UPHENO:0041610", + "HP:0004348", + "UPHENO:0076703", + "UBERON:0011143", + "UPHENO:0002816", + "UBERON:0000467", + "UBERON:0004765", + "UBERON:0001434", + "HP:0001941", + "UPHENO:0051804", + "HP:0004912", "UPHENO:0002832", "UPHENO:0002803", "HP:0002748", - "HP:0000938", - "UPHENO:0049723", - "CHEBI:22984", - "UBERON:0000463", - "CHEBI:26020", - "HP:0040156", - "CHEBI:25367", - "CHEBI:33285", - "UBERON:0000465", - "CHEBI:33582", - "HP:0031980", - "CHEBI:33559", - "UPHENO:0051930", - "HP:0003355", - "UPHENO:0068144", - "CHEBI:33608", - "UPHENO:0046286", - "UPHENO:0001002", - "HP:0100511", - "UPHENO:0082540", - "UPHENO:0076289", - "HP:0012072", - "UPHENO:0046281", - "UPHENO:0076287", - "CHEBI:25806", - "CHEBI:36962", - "CHEBI:50860", - "UPHENO:0079534", - "UPHENO:0051900", - "UPHENO:0051739", - "UBERON:0003914", - "UPHENO:0079536", - "CHEBI:64709", - "UPHENO:0068058", - "UPHENO:0068313", - "CHEBI:33674", - "CHEBI:36587", - "UPHENO:0068384", - "UBERON:0001008", - "CHEBI:24833", - "HP:0000002", - "HP:0002157", - "HP:0033354", - "CHEBI:33521", - "UPHENO:0082541", - "CHEBI:36586", - "UPHENO:0051612", - "UPHENO:0068089", - "UPHENO:0051670", - "CHEBI:33575", - "CHEBI:50047", - "UPHENO:0068251", - "GO:0008202", - "UPHENO:0082834", - "GO:0042359", - "UPHENO:0068102", - "UPHENO:0000543", - "HP:0003076", - "CHEBI:27300", - "GO:0006629", - "GO:1901615", - "UBERON:0000178", - "GO:0006766", - "UPHENO:0001001", - "GO:0044238", - "UPHENO:0081423", - "UPHENO:0002642", - "HP:0002909", - "UBERON:0015203", - "UPHENO:0051712", - "UPHENO:0086128", - "UPHENO:0049587", - "CHEBI:33595", - "CHEBI:18059", - "UPHENO:0048711", + "UBERON:0004708", + "HP:0011849", + "UBERON:0034921", + "HP:0011842", + "UPHENO:0084653", + "UPHENO:0051635", + "UPHENO:0003095", + "UBERON:0000383", + "UPHENO:0082835", + "HP:0001367", + "UPHENO:0003015", + "UPHENO:0004507", + "UBERON:0002113", + "UPHENO:0002585", + "UPHENO:0076727", + "UPHENO:0002632", + "UBERON:0002103", + "UPHENO:0080658", + "UBERON:0002495", + "UPHENO:0002785", + "HP:0000079", + "UBERON:0002513", + "UPHENO:0002634", + "UBERON:0002529", + "UPHENO:0041536", + "UPHENO:0041098", + "HP:0033127", + "UPHENO:0086635", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UBERON:0006555", + "UPHENO:0086780", + "UPHENO:0086956", + "UBERON:0010709", + "UBERON:0000483", + "UPHENO:0002944", + "HP:0002979", + "UBERON:0002471", + "HP:0030878", + "UPHENO:0041573", + "HP:0040068", + "UPHENO:0075952", + "UPHENO:0002945", + "UPHENO:0031318", + "UBERON:0011582", + "UPHENO:0002568", + "UBERON:0015061", + "UPHENO:0041258", + "UBERON:0001465", + "HP:0001995", + "UBERON:0003823", + "HP:6000531", + "UPHENO:0003066", + "UPHENO:0088582", + "UBERON:0000982", + "HP:0011314", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "HP:0002857", ], "has_phenotype_closure_label": [ - "alkaline earth metal atom", - "Hypercalciuria", - "s-block element atom", - "main group element atom", - "increased level of calcium atom in independent continuant", - "Abnormality of urine calcium concentration", - "abnormal calcium atom level", - "atom", - "Renal insufficiency", - "non-functional kidney", - "Abnormal glomerular filtration rate", - "Decreased glomerular filtration rate", - "Pain", - "Constitutional symptom", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the independent continuant", - "delayed growth", - "Growth delay", - "growth", - "abnormal urine calcium atom level", - "decreased size of the anatomical entity in the independent continuant", - "metal atom", - "abnormality of anatomical entity height", - "Growth abnormality", - "Hyperproteinemia", - "Abnormal circulating nitrogen compound concentration", - "increased level of protein", - "Abnormal circulating organic amino compound concentration", - "protein", - "increased level of parathyroid hormone in independent continuant", - "calcium atom", - "increased blood serum role level", - "increased level of chemical entity in blood serum", - "abnormal blood serum chemical entity level", - "Elevated circulating parathyroid hormone level", - "parathyroid hormone", - "increased level of nitrogen molecular entity in blood", - "abnormal independent continuant protein level", - "abnormal role blood serum level", - "blood serum", - "increased level of protein in blood", - "Alkalosis", - "blood plasma", - "increased level of calcium atom in urine", - "abnormal blood protein polypeptide chain level", - "abnormal blood parathyroid hormone level", - "Acute phase response", - "abnormal acid bodily fluid level", - "Abnormality of acid-base homeostasis", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", + "Abnormality of the vasculature", + "Abnormal systemic blood pressure", + "anatomical cluster phenotype", + "anatomical cluster", + "Hypertension", + "disconnected anatomical group", + "cardiovascular system", + "cardiovascular system physiology phenotype", + "kidney morphology phenotype", + "excretory tube", + "Renal fibrosis", + "Abnormal renal insterstitial morphology", + "kidney epithelium morphology phenotype", + "Abnormal renal morphology", + "Abnormal nephron morphology", + "nephron morphology phenotype", + "Increased blood pressure", + "Tubulointerstitial fibrosis", + "renal tubule", + "uriniferous tubule", + "nephron epithelium", + "s-block molecular entity", + "molecule", + "amino acid level phenotype", + "Abnormal urine amino acid level", + "hydroxides", + "organic molecule", + "oxoacid", + "increased level of organic acid in urine", + "renal system morphology phenotype", + "amino acid", + "increased level of carboxylic acid in urine", + "carbon oxoacid", + "carbonyl compound", + "carboxylic acid", + "urine amino acid level phenotype", + "Neoplasm", + "Neoplasm of the respiratory system", + "neoplasm phenotype", + "pathological process", + "Emphysema", + "tissue specific degenerative process", + "blood vasculature", + "pathological phenotype observation", + "Lung adenocarcinoma", "increased level of monosaccharide in urine", - "abnormal urine glucose level", - "aldohexose", - "glucose", - "aldose", "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", "monosaccharide", - "peptide", + "urine glucose level phenotype", + "carbohydrates and carbohydrate derivatives", "macromolecule", - "increased level of protein polypeptide chain in urine", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "abnormal independent continuant protein polypeptide chain level", - "abnormal lipid level", - "Abnormality of vitamin metabolism", - "calcitriol", - "increased level of chemical entity in blood", + "vascular system", + "increased level of chemical entity in urine", + "carbon group molecular entity", + "organic molecular entity", + "nitrogen molecular entity", + "peptide", + "organic oxo compound", + "excreta", + "organooxygen compound", + "heteroorganic entity", "Abnormal urine protein level", - "abnormal hormone blood level", - "increased blood role level", - "abnormal vitamin D metabolic process", - "increased level of parathyroid hormone in blood", - "hydroxy steroid", - "abnormal vitamin D level", - "vitamin D metabolic process", - "steroid metabolic process", - "abnormal hormone independent continuant level", - "Abnormal circulating hormone concentration", - "trunk region element", - "Renal tubular dysfunction", - "abnormal homeostatic process", - "abnormal monoatomic ion homeostasis", - "Abnormality of metabolism/homeostasis", - "non-functional anatomical entity", - "Osteopenia", - "abnormal role blood level", - "main body axis", - "Abnormal circulating calcium-phosphate regulating hormone concentration", - "seco-steroid", - "bodily fluid", - "abnormal urine phosphate level", - "abdomen element", - "Hypophosphatemia", - "monoatomic ion", - "abnormal blood chemical entity level", - "monoatomic entity", - "abnormal acid independent continuant level", + "increased urine role level", + "increased level of chemical entity", + "urine", + "organic amino compound", + "role urine level phenotype", + "oxygen molecular entity", + "urine chemical entity level phenotype", + "organism subdivision, curved phenotype", + "long bone phenotype", + "limb morphology phenotype", + "nephron tubule", + "Abnormal renal tubule morphology", + "hydrogen molecular entity", + "endochondral bone phenotype", + "bone of appendage girdle complex phenotype", + "hindlimb morphology phenotype", + "Abnormality of the calf", + "aldohexose", + "zone of organ", + "subdivision of organism along appendicular axis, curved phenotype", + "Abnormality of limbs", + "organism subdivision phenotype", + "appendicular skeleton", + "limb skeleton subdivision", + "appendicular skeletal system", + "endochondral element", + "epithelium", + "system", + "limb endochondral element phenotype", + "appendage girdle complex", + "lower limb segment, curved phenotype", + "pelvic complex", + "multi-limb segment region phenotype", + "endochondral element phenotype", + "blood vessel", + "multi-limb segment region", + "skeletal joint phenotype", + "Bowing of the long bones", + "shape hindlimb zeugopod", "decreased level of chemical entity in blood", - "phenotype by ontology source", - "abnormal blood plasma chemical entity level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "organism substance", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "blood monoatomic ion level phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "trunk", + "hindlimb joint", + "amide", + "Abnormality of limb bone", + "chemical entity level phenotype", + "trunk region element", + "phosphorus molecular entity", "primary amide", + "limb bone morphology phenotype", "elemental molecular entity", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", - "skeletal system", - "phosphate ion homeostasis", - "decreased size of the anatomical entity", - "blood", - "abnormal size of multicellular organism", - "bone element", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "abnormal anatomical entity mass density", - "epithelium", - "abnormal protein level", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "Alkalemia", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "increased blood serum base level", - "abnormal blood phosphate level", - "multicellular organismal process", - "organ part", - "abnormal bone element mass density", - "chemical homeostasis", - "glandular system", - "primary metabolic process", - "skeletal element", - "cavitated compound organ", - "increased level of lipid in blood", - "uriniferous tubule", - "anatomical entity", - "material entity", - "organic amino compound", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "increased bodily fluid base level", - "increased level of glucose in urine", - "body proper", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "Elevated urinary carboxylic acid", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "increased level of monosaccharide in independent continuant", - "D3 vitamins", - "multicellular anatomical structure", + "main group molecular entity", "haemolymphatic fluid", - "abnormal skeletal system", - "abnormal blood nitrogen molecular entity level", - "increased level of lipid", - "organic hydroxy compound metabolic process", - "Bone pain", - "Abnormality of the upper urinary tract", - "vitamin D", - "abnormal small molecule metabolic process", - "abnormal renal system", - "abnormal multicellular organism chemical entity level", - "phosphate", - "non-connected functional system", - "Azotemia", - "abnormal blood monoatomic ion level", - "Abnormal urine metabolite level", + "organochalcogen compound", + "Abnormal homeostasis", + "homeostatic process", + "Abnormal respiratory system physiology", + "cardiovascular system phenotype", + "Abnormality of acid-base homeostasis", + "tube", + "Metabolic acidosis", + "ion", + "chemical entity", + "Hyperchloremic metabolic acidosis", + "zone of long bone", + "mesoderm-derived structure phenotype", + "organonitrogen compound", + "appendage", + "anatomical entity phenotype", + "bone element", + "Acidosis", + "upper urinary tract phenotype", + "organism substance", "process", - "abnormal role independent continuant level", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "hydroxycalciol", - "Abnormality of the urinary system physiology", - "All", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "Abnormal circulating lipid concentration", + "homeostatic process phenotype", + "Abnormal knee morphology", + "trunk region element physiology phenotype", + "viscus", + "articulation", + "skeletal joint morphology phenotype", + "kidney", + "subdivision of skeleton", + "endochondral bone", + "Abnormal tubulointerstitial morphology", + "Abnormality of urine homeostasis", + "upper urinary tract", + "Genu valgum", + "process of degenerative change", + "lower limb segment phenotype", + "organ phenotype", + "lung fibrosis", + "hematopoietic system phenotype", + "Abnormal limb bone morphology", + "blood chemical entity level phenotype", + "mesoderm-derived structure", + "Stage 5 chronic kidney disease", + "Aciduria", + "Abnormality of the urinary system", + "anatomical entity morphology in the pelvic complex phenotype", + "abdomen element phenotype", + "circulatory system", + "long bone morphology phenotype", + "excretory system", + "main body axis", + "organism subdivision", + "limb segment phenotype", + "bone of appendage girdle complex", + "multicellular anatomical structure phenotype", + "skeletal system", + "subdivision of trunk", + "monoatomic entity", + "Abnormality of the lower limb", + "paired limb/fin segment, curved phenotype", + "blood", + "subdivision of organism along main body axis", + "Bowing of the legs", + "Abnormality of the skeletal system", + "lung", + "skeletal system morphology phenotype", + "carbohydrate", + "biological_process", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "limb bone phenotype", + "Hypophosphatemia", + "articular system", + "material entity", + "increased level of glucose in urine", + "nitrogen molecular entity level phenotype", + "Decreased DLCO", + "blood phosphate level phenotype", + "body proper", + "biological_process phenotype", + "abdominal segment element phenotype", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", "Phenotypic abnormality", - "information biomacromolecule", "Glycosuria", "Abnormal bone ossification", "abdominal segment element", - "pnictogen molecular entity", - "hematopoietic system", - "multicellular organism", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "increased level of parathyroid hormone in blood serum", - "Abnormal circulating protein concentration", + "Renal insufficiency", + "hindlimb zeugopod phenotype", + "respiration organ phenotype", + "anatomical structure", + "hindlimb zeugopod morphology phenotype", + "anatomical conduit", + "musculature", + "polypeptide", + "Abnormality of bone mineral density", + "phosphate level phenotype", + "Proteinuria", + "material anatomical entity, curved phenotype", + "protein-containing material entity", + "hindlimb", + "Abnormality of the upper urinary tract", + "phosphate", + "thoracic segment organ phenotype", + "subdivision of skeletal system", "entity", - "abnormal blood lipid level", - "monoatomic ion homeostasis", - "abnormal urine chemical entity level", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "emphysema", + "lateral structure phenotype", + "polyatomic entity", + "Chronic kidney disease", + "material anatomical entity", + "posterior region of body", + "multicellular anatomical structure", + "lung morphology phenotype", + "kidney physiology phenotype", + "respiratory tract", + "organ system subdivision phenotype", + "chalcogen molecular entity", + "Abnormal renal physiology", + "Abnormality of the kidney", + "limb segment, curved phenotype", + "trunk region element phenotype", + "lateral structure", + "abdomen element", "protein polypeptide chain", "continuant", - "nephron", - "amino acid chain", + "Abnormality of metabolism/homeostasis", + "anatomical entity fibrosis", + "specifically dependent continuant", + "abdominal segment element physiology phenotype", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "zeugopod", + "skeletal element", + "organ physiology phenotype", + "phenotypic effect", + "zeugopod, curved phenotype", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "oxoacid derivative", + "compound organ physiology phenotype", + "paired limb/fin segment phenotype", "tissue", - "biomacromolecule", - "p-block molecular entity", - "triol", - "increased level of amino acid in independent continuant", - "homeostatic process", - "Abnormal homeostasis", - "Increased susceptibility to fractures", - "organochalcogen compound", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "carbon oxoacid", - "Organic aciduria", - "Abnormal metabolism", - "increased level of calcitriol in independent continuant", - "abnormal upper urinary tract", - "musculoskeletal system", - "fat-soluble vitamin metabolic process", - "hydrogen molecular entity", - "nephron tubule", - "Abnormality of vitamin D metabolism", - "increased level of protein in independent continuant", + "anatomical system physiology phenotype", + "bodily fluid", + "thoracic cavity element phenotype", + "material anatomical entity phenotype", + "renal/urinary system phenotype", + "anatomical entity", + "independent continuant", + "increased level of amino acid in urine", + "compound organ phenotype", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "Abnormal cardiovascular system physiology", + "taxon specific phenotype", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "anatomical entity physiology phenotype", + "zone of bone organ", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", "renal system", "phenotype", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "Hyperlipidemia", - "genitourinary system", - "organic cyclic compound", + "Hyperchloremic acidosis", "Abnormal bone structure", - "anatomical system", - "chemical entity", - "polyol", - "increased independent continuant acid level", - "subdivision of organism along main body axis", - "small molecule metabolic process", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", + "bone of free limb or fin phenotype", + "anatomical structure phenotype", + "appendicular skeleton morphology phenotype", "occurrent", "organ", - "delayed biological_process", - "Osteomalacia", - "oxoacid", - "abnormal independent continuant chemical entity level", - "carbon group molecular entity", - "metabolic process", - "oxoacid derivative", - "trunk", - "abnormality of musculoskeletal system physiology", - "abnormal role bodily fluid level", - "abnormal biological_process", - "Recurrent fractures", - "carbonyl compound", - "abnormal chemical entity level", - "polyatomic entity", - "abnormal chemical homeostasis", + "nephron", + "curved long bone", + "renal system physiology phenotype", + "kidney epithelium", + "Abnormal blood phosphate concentration", + "compound organ", + "phosphorus oxoacids and derivatives", + "shape long bone", + "anatomical system phenotype", + "musculature phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "abdominal segment of trunk", + "abdomen", "Aminoaciduria", "organ system subdivision", - "abnormal genitourinary system", - "heteroatomic molecular entity", - "decreased level of phosphate in independent continuant", - "Abnormal skeletal morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "urine", - "abnormality of renal system physiology", - "quality", + "material anatomical entity physiology phenotype", + "Neoplasm of the lung", "phosphoric acid derivative", - "abnormal growth", - "independent continuant", - "ion", - "organic cyclic compound metabolic process", - "abnormality of kidney physiology", - "main group molecular entity", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "increased level of lipid in independent continuant", - "Proximal tubulopathy", - "organism subdivision", - "abnormal kidney", - "abdomen", - "abdominal segment of trunk", - "excretory tube", - "Abnormal blood phosphate concentration", - "phosphorus oxoacids and derivatives", - "kidney epithelium", - "compound organ", + "quality", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "Neoplasm by anatomical site", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "cell and tissue damage process", + "skeleton", + "Abnormality on pulmonary function testing", + "leg phenotype", + "proximo-distal subdivision of respiratory tract", + "hematopoietic system", + "multicellular organism", + "thoracic cavity element", + "All", + "anatomical collection", + "thoracic segment organ", + "vessel", + "diaphysis", + "lower respiratory tract", + "lung phenotype", + "articulation phenotype", + "pelvic appendage", + "endoderm-derived structure", + "pair of lungs", + "respiration organ", + "shape of continuant phenotype", + "Abnormal DLCO", + "anatomical entity morphology phenotype", + "subdivision of organism along appendicular axis", + "thoracic segment of trunk", + "metabolic process", + "endoderm-derived structure phenotype", + "respiratory system phenotype", + "Pulmonary fibrosis", + "anatomical entity morphology in the respiratory system phenotype", + "organ part", + "multicellular organismal process", "epithelial tube", - "lateral structure", - "Abnormality of urine homeostasis", - "upper urinary tract", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "Renal phosphate wasting", - "abnormal endocrine system", - "kidney", - "tube", - "Abnormal musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", - "nephron epithelium", - "hemolymphoid system", - "Rickets", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "carboxylic acid", - "increased level of chemical entity in independent continuant", + "respiratory system", + "Abnormal pulmonary interstitial morphology", + "skeleton of limb", + "knee morphology phenotype", + "respiratory airway", + "subdivision of tube", + "renal system phenotype", + "respiratory system physiology phenotype", + "viscus phenotype", + "anatomical entity mass density phenotype", + "Abnormality of the musculoskeletal system", + "Abnormal skeletal morphology", + "Decreased bone element mass density", "Abnormal urine pH", - "increased level of amino acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "organic polycyclic compound", - "Abnormal renal physiology", - "chalcogen molecular entity", - "abnormal urine amino acid level", - "nitrogen molecular entity", - "increased independent continuant hormone level", - "protein-containing molecular entity", - "increased level of vitamin D", - "Abnormal circulating organic compound concentration", - "High serum calcitriol", - "organic substance metabolic process", - "increased level of chemical entity", - "carboxamide", - "Generalized aminoaciduria", - "Short stature", - "abnormally decreased functionality of the anatomical entity", - "endocrine system", - "organonitrogen compound", - "organooxygen compound", - "heteroorganic entity", + "bone element phenotype", + "musculature of body", + "skeletal element phenotype", + "curved anatomical entity", + "skeletal system phenotype", + "lower limb segment", + "Reduced bone mineral density", + "bone element mass density phenotype", + "organic acid", "Abnormal circulating metabolite concentration", "ossification", - "organic acid", - "Abnormal urine phosphate concentration", - "increased level of carboxylic acid in urine", - "abnormal metabolic process", - "excreta", - "organic oxo compound", - "increased level of organic molecular entity in independent continuant", - "increased level of chemical entity in blood plasma", - "s-block molecular entity", - "organic molecule", - "Abnormality of the urinary system", - "Aciduria", - "hydroxides", - "increased level of organic acid in urine", - "increased level of nitrogen molecular entity in independent continuant", - "increased independent continuant base level", - "oxygen molecular entity", - "organic molecular entity", - "increased independent continuant role level", - "molecule", - "amino acid", - "abnormality of multicellular organism height", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "increased level of organic acid in independent continuant", - "increased level of carboxylic acid in independent continuant", - "abnormal role urine level", - "hydroxy seco-steroid", - "lipid metabolic process", - "vitamin metabolic process", - "disconnected anatomical group", - "Abnormality of the kidney", - "abnormal lipid metabolic process", - "Abnormality of the endocrine system", - "material anatomical entity", - "lipid", - "abnormal primary metabolic process", - "increased level of calcitriol in blood", - "polycyclic compound", - "carbohydrates and carbohydrate derivatives", - "organic hydroxy compound", - "steroid", - "cyclic compound", - "phosphorus molecular entity", - "abnormal independent continuant lipid level", - "abnormal independent continuant calcium atom level", - "abnormal independent continuant parathyroid hormone level", - "abnormal vitamin metabolic process", + "Abnormal respiratory system morphology", + "shape anatomical entity", + "paired limb/fin phenotype", + "curved hindlimb zeugopod", + "Abnormal appendicular skeleton morphology", + "appendage phenotype", + "knee phenotype", + "limb endochondral element", + "lateral structure physiology phenotype", + "multicellular anatomical structure, curved phenotype", + "paired limb/fin", + "multi organ part structure phenotype", + "paired limb/fin segment", + "Abnormality of the knee", + "monoatomic ion", + "leg", + "nephron tubule morphology phenotype", + "long bone", + "increased level of protein polypeptide chain in urine", + "Abnormal joint morphology", + "limb segment", + "cavitated compound organ phenotype", + "bone of free limb or fin", + "hindlimb joint phenotype", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb phenotype", + "Organic aciduria", + "Abnormal diaphysis morphology", + "anatomical structure, curved phenotype", + "hemolymphoid system", + "Rickets", + "multi organ part structure", + "vasculature phenotype", + "Non-small cell lung carcinoma", + "skeletal joint", + "organ, curved phenotype", + "skeletal element, curved phenotype", + "respiratory system morphology phenotype", + "musculoskeletal system", + "curvature anatomical entity", + "limb joint", + "limb bone", + "Hypophosphatemic rickets", + "knee", + "vasculature", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "Abnormal lung morphology", + "anatomical system", + "Abnormality of lower limb joint", + "zeugopod phenotype", + "bone element, curved phenotype", + "limb", ], }, { - "id": "MONDO:0024525", + "id": "MONDO:0014275", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", - "xref": ["DOID:0080757", "OMIM:134600"], + "name": "Fanconi renotubular syndrome 3", + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", "provided_by": "phenio_nodes", + "xref": ["DOID:0080759", "GARD:15991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"], "synonym": [ - "DeToni-Debré-Fanconi syndrome", - "FRTS1", - "Fanconi renotubular syndrome", - "Fanconi renotubular syndrome 1", - "Fanconi syndrome without cystinosis", - "Luder-Sheldon syndrome", - "adult Fanconi syndrome", - "primary Fanconi renal syndrome", - "primary Fanconi renotubular syndrome", - "renal Fanconi syndrome", + "EHHADH Fanconi syndrome", + "FRTS3", + "Fanconi renotubular syndrome 3", + "Fanconi renotubular syndrome type 3", + "Fanconi syndrome caused by mutation in EHHADH", ], "namespace": "MONDO", "has_phenotype": [ "HP:0001942", - "HP:0003648", - "HP:0001324", - "HP:0002749", - "HP:0002148", - "HP:0000124", + "HP:0003259", + "HP:0001510", "HP:0003109", - "HP:0002900", "HP:0002748", - "HP:0034359", + "HP:0002979", "HP:0003076", - "HP:0003155", - "HP:0003355", + "HP:0000083", "HP:0004322", + "HP:0003355", "HP:0003126", - "HP:0000083", ], "has_phenotype_label": [ "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", - "Osteomalacia", - "Hypophosphatemia", - "Renal tubular dysfunction", + "Elevated circulating creatinine concentration", + "Growth delay", "Hyperphosphaturia", - "Hypokalemia", "Rickets", - "Impaired renal tubular reabsorption of phosphate", + "Bowing of the legs", "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", + "Renal insufficiency", "Short stature", + "Aminoaciduria", "Low-molecular-weight proteinuria", - "Renal insufficiency", ], - "has_phenotype_count": 16, + "has_phenotype_count": 11, "has_phenotype_closure": [ - "CHEBI:37622", - "UPHENO:0068247", - "UPHENO:0068565", + "HP:0000093", "CHEBI:16541", - "CHEBI:32988", - "CHEBI:15841", "CHEBI:16670", - "UPHENO:0020584", - "GO:0040007", - "UPHENO:0049874", - "UPHENO:0081424", - "UPHENO:0000541", - "UPHENO:0069254", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0075159", - "UPHENO:0051670", - "CHEBI:35605", - "CHEBI:36587", - "UPHENO:0068538", - "UPHENO:0068040", - "UPHENO:0068169", + "CHEBI:15841", "HP:0003355", - "CHEBI:24651", - "CHEBI:33575", - "UPHENO:0068495", + "CHEBI:33674", "UPHENO:0046286", - "CHEBI:33608", - "UPHENO:0068144", - "UPHENO:0068091", + "UPHENO:0068169", "HP:0031980", - "CHEBI:33709", "CHEBI:50047", - "HP:0004379", - "UPHENO:0081777", + "CHEBI:33575", + "HP:0032943", + "CHEBI:33709", + "CHEBI:24651", + "CHEBI:36586", + "HP:0012072", + "UPHENO:0075195", + "UPHENO:0069327", "UPHENO:0068971", - "CHEBI:33695", - "UPHENO:0082943", - "PR:000064867", - "CHEBI:35352", - "UPHENO:0075666", - "CHEBI:51143", - "CHEBI:33694", - "UPHENO:0046362", - "HP:0012379", - "PR:000018263", - "UPHENO:0080658", - "UPHENO:0000543", + "UPHENO:0081424", + "UPHENO:0069062", + "UPHENO:0069254", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0075159", + "UPHENO:0002386", + "UBERON:0000916", + "UBERON:0002417", + "UPHENO:0003094", + "UBERON:0005177", + "UPHENO:0002754", + "UPHENO:0002377", + "UPHENO:0002360", + "UBERON:0009569", + "UBERON:0013701", + "UPHENO:0002308", + "HP:0012211", + "UPHENO:0002422", + "UPHENO:0075902", + "UBERON:0000489", + "UBERON:0005173", + "UBERON:0011676", + "UPHENO:0003093", + "UPHENO:0002909", + "UPHENO:0002246", + "HP:0025745", + "CHEBI:18133", + "CHEBI:15693", + "UPHENO:0081544", + "CHEBI:17234", + "UPHENO:0068054", + "CHEBI:35381", + "HP:0000077", + "CHEBI:78616", + "CHEBI:36587", + "UPHENO:0089294", + "RO:0002577", + "UPHENO:0003070", + "UPHENO:0031166", + "HP:0040064", + "UPHENO:0041226", + "UBERON:0010912", + "UBERON:0000075", + "UBERON:0000475", + "UPHENO:0031220", + "UPHENO:0084767", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:3000004", + "HP:6000531", + "UPHENO:0068352", + "CHEBI:33839", + "CHEBI:26079", + "CHEBI:24833", + "UBERON:0001008", + "UPHENO:0068491", + "CHEBI:36360", + "HP:0430071", + "BFO:0000020", + "UBERON:0001088", "HP:0003076", + "UPHENO:0000543", + "UPHENO:0031302", + "CHEBI:23367", + "UPHENO:0002526", + "HP:0006487", + "PR:000050567", + "BFO:0000003", + "HP:0011844", + "UBERON:0004709", + "CHEBI:55370", + "UBERON:8450002", + "HP:0012100", "HP:0000002", "HP:0033354", - "UPHENO:0068054", - "CHEBI:33285", - "CHEBI:50860", - "CHEBI:36962", + "HP:0002157", + "UPHENO:0081423", + "UPHENO:0002642", "CHEBI:25806", - "CHEBI:18133", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", + "UBERON:0002113", + "UPHENO:0002585", + "CHEBI:50860", + "UPHENO:0079534", + "CHEBI:33661", + "UPHENO:0001002", + "HP:0004364", + "UPHENO:0078550", + "CHEBI:33675", + "UPHENO:0003005", + "CHEBI:25367", + "CHEBI:33285", + "UPHENO:0076727", + "CHEBI:36357", + "UPHENO:0051894", + "UPHENO:0086956", + "UPHENO:0000541", + "UPHENO:0068442", "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0051960", - "GO:0050801", - "BFO:0000003", - "HP:0002148", + "UPHENO:0046383", + "CHEBI:36962", + "UPHENO:0002830", "UPHENO:0080351", "UPHENO:0076286", - "UPHENO:0050080", - "GO:0001503", - "HP:0000118", - "UBERON:0001434", - "UBERON:0002204", - "HP:0011849", - "UPHENO:0048707", - "GO:0003008", - "HP:0004349", - "BFO:0000040", - "UPHENO:0082834", - "UPHENO:0034391", + "GO:0008152", + "UPHENO:0002385", + "HP:0001942", + "UPHENO:0002525", + "UPHENO:0002870", + "HP:0011277", + "UPHENO:0051763", + "UPHENO:0068049", + "CHEBI:51143", "HP:0004360", - "UPHENO:0002964", - "UPHENO:0082542", + "UPHENO:0002632", + "UBERON:0002103", + "CHEBI:38261", "HP:0000119", - "HP:0003330", - "HP:0034684", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "UPHENO:0082835", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", - "HP:0000093", - "GO:0055062", - "UPHENO:0034253", - "UBERON:0002417", - "CHEBI:22314", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0068292", - "UBERON:0000468", - "UBERON:0005090", - "HP:0000083", - "GO:0032501", - "HP:0011804", - "UPHENO:0052008", - "CHEBI:23367", - "UPHENO:0076289", - "HP:0001324", - "UBERON:0011216", - "CHEBI:33504", + "CHEBI:23443", + "UPHENO:0001001", + "CHEBI:16646", + "CHEBI:38304", + "CHEBI:38101", + "UPHENO:0041573", "BFO:0000004", - "UPHENO:0080352", - "UBERON:0000179", - "UPHENO:0051635", - "UBERON:0000383", - "UPHENO:0001005", - "UPHENO:0004459", - "GO:0098771", - "UPHENO:0077821", - "CHEBI:36357", - "UBERON:0001630", - "HP:0033127", - "CHEBI:33259", - "UBERON:0001088", - "UPHENO:0002442", - "PATO:0000001", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0084653", - "UPHENO:0002320", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "UPHENO:0046283", - "HP:0011277", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0051801", - "CHEBI:60911", + "CHEBI:33241", + "UBERON:0002193", + "UBERON:0000154", + "UPHENO:0068472", + "UPHENO:0041098", + "CHEBI:33832", + "UBERON:0000468", + "HP:0012591", + "HP:0001510", + "HP:0003109", + "HP:0001507", + "CHEBI:37577", + "GO:0040007", + "UPHENO:0031228", + "CHEBI:16737", + "HP:0001939", + "UPHENO:0084763", "HP:0000001", - "UPHENO:0001002", - "CHEBI:60242", - "UPHENO:0086128", - "UPHENO:0049587", - "GO:0008152", + "CHEBI:32988", + "UPHENO:0081581", + "CHEBI:24431", + "UPHENO:0049874", + "UBERON:0003823", + "HP:0001871", + "UPHENO:0002426", "UPHENO:0046284", - "HP:0004348", - "HP:0012072", - "CHEBI:36080", - "UBERON:0006314", - "UBERON:0001015", - "CHEBI:37247", - "UPHENO:0068511", - "BFO:0000002", - "HP:0001942", - "CHEBI:33238", - "UPHENO:0049628", - "UBERON:0000174", - "HP:0000924", - "BFO:0000020", - "UPHENO:0012541", - "UPHENO:0068491", - "CHEBI:36360", - "UPHENO:0001003", - "HP:0003155", - "UPHENO:0080556", - "HP:0002900", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0081550", - "UPHENO:0001001", - "CHEBI:24833", - "UBERON:0001008", - "CHEBI:33839", - "CHEBI:26079", - "GO:0042592", + "UBERON:0003103", + "UPHENO:0068110", + "UPHENO:0077817", + "HP:0000118", + "UBERON:0000178", "UPHENO:0082539", - "UPHENO:0082538", - "UBERON:0000489", + "UBERON:0004120", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0068144", + "UBERON:0010707", + "UPHENO:0002554", "BFO:0000001", - "PR:000050567", - "CHEBI:59999", - "UPHENO:0080555", - "UBERON:0000178", - "UPHENO:0068094", - "UPHENO:0081546", - "UPHENO:0051640", - "UPHENO:0051280", - "HP:0032943", - "BFO:0000015", - "GO:0008150", - "UPHENO:0051763", - "UBERON:0001062", - "CHEBI:72695", - "UPHENO:0068064", - "HP:0001939", - "CHEBI:35381", - "CHEBI:64709", - "UBERON:0003914", - "UPHENO:0079536", - "UPHENO:0024906", - "HP:0003011", "HP:0012337", - "HP:0002749", - "CHEBI:23906", - "UPHENO:0068089", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "UPHENO:0002536", "UPHENO:0076692", - "UBERON:0001231", - "UPHENO:0068110", - "UBERON:0003103", - "UBERON:0004111", - "GO:0070293", - "UBERON:0000062", - "UPHENO:0082875", - "UBERON:0001474", - "UBERON:0002100", - "CHEBI:28358", - "HP:0001507", - "CHEBI:37577", - "HP:0001510", - "HP:0003109", - "HP:0012591", - "HP:0000079", - "CHEBI:60004", - "CHEBI:33241", - "CHEBI:26082", - "HP:0100529", - "UPHENO:0034217", - "CHEBI:24870", - "UBERON:0000064", - "CHEBI:33675", - "UBERON:0002193", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0051937", + "UPHENO:0002536", + "HP:0001941", + "UPHENO:0051804", "UPHENO:0049904", - "UPHENO:0066739", - "UPHENO:0075902", - "CHEBI:33250", - "UBERON:0002113", + "UPHENO:0002559", + "CHEBI:5686", + "UPHENO:0002593", + "UPHENO:0089764", + "BFO:0000002", + "CHEBI:33256", + "UPHENO:0002926", + "UPHENO:0003065", + "CHEBI:33302", + "UPHENO:0002269", + "CHEBI:25693", + "UBERON:0000061", + "BFO:0000015", + "UBERON:0005055", + "UBERON:0006314", + "UPHENO:0003088", + "UBERON:0001015", + "BFO:0000040", + "UPHENO:0082834", + "UPHENO:0002861", + "HP:0004349", + "UBERON:0001062", + "PATO:0000001", + "UPHENO:0002442", + "UBERON:0000978", + "UBERON:0011249", + "CHEBI:33670", + "CHEBI:37622", + "CHEBI:24532", + "CHEBI:35352", + "UPHENO:0002963", + "UPHENO:0001003", + "CHEBI:33579", + "UBERON:0004769", + "UPHENO:0048707", + "HP:0011849", + "UPHENO:0003049", + "GO:0008150", + "UPHENO:0068064", + "CHEBI:72695", + "UPHENO:0002530", + "HP:0001992", + "UBERON:0002390", + "UBERON:0010000", + "UPHENO:0082536", "HP:0032180", - "CHEBI:25367", - "HP:0011042", - "UBERON:0004120", - "CHEBI:17234", - "GO:0048878", + "UPHENO:0081547", + "UPHENO:0002427", + "UPHENO:0077826", + "UBERON:0011216", + "UBERON:0005172", + "UPHENO:0052038", + "UBERON:0001969", + "UPHENO:0031339", + "UBERON:0013702", + "HP:0002813", + "CHEBI:33304", + "UPHENO:0068346", + "UPHENO:0049587", + "CHEBI:33595", + "UBERON:0000465", + "CHEBI:33582", + "HP:0012599", "HP:0040156", "UBERON:0000463", "CHEBI:26020", - "UPHENO:0002816", - "UBERON:0011143", - "HP:0011036", - "CHEBI:78616", - "HP:0000077", - "UBERON:0013702", - "CHEBI:33304", - "HP:0010930", - "UPHENO:0051847", - "UBERON:0005177", - "UBERON:0005173", - "CHEBI:16646", - "HP:0000124", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "GO:0003014", - "UBERON:0004819", - "UPHENO:0082543", - "UBERON:0000483", - "CHEBI:24431", - "HP:0003111", - "CHEBI:33318", - "UBERON:0004122", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "HP:0020129", + "UPHENO:0046348", + "CHEBI:36359", + "HP:0003110", "HP:0010935", - "UBERON:0015212", - "HP:0012211", - "UPHENO:0002411", - "UBERON:0000916", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0009773", - "HP:6000531", - "UPHENO:0068352", - "UBERON:0005172", - "HP:0001992", - "UBERON:0010000", - "UPHENO:0051709", - "UBERON:0002390", - "UPHENO:0066943", - "HP:0004322", - "CHEBI:26216", - "UPHENO:0049709", - "PR:000003968", - "UBERON:0000479", + "UBERON:0004122", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0001474", + "CHEBI:26082", + "UPHENO:0031122", "UPHENO:0051686", - "CHEBI:36915", - "UBERON:0000475", - "HP:0012599", - "UPHENO:0051898", - "PR:000000001", - "UPHENO:0034199", - "UBERON:0006555", - "GO:0055080", - "CHEBI:36914", - "CHEBI:36586", - "CHEBI:33521", - "UPHENO:0081544", - "CHEBI:15693", - "UPHENO:0051645", - "CHEBI:33296", - "HP:0010929", - "UPHENO:0034438", - "CHEBI:26217", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0051930", - "CHEBI:33559", - "UPHENO:0081547", - "CHEBI:25414", - "UBERON:0000061", - "CHEBI:36916", - "UPHENO:0079822", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0080659", - "CHEBI:25213", - "UPHENO:0051958", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "CHEBI:29103", + "CHEBI:64709", + "UPHENO:0002267", + "UPHENO:0002976", + "HP:0003330", + "UPHENO:0041610", + "HP:0004348", + "UBERON:0000062", + "UPHENO:0084654", + "UPHENO:0076703", + "UBERON:0011143", + "UPHENO:0002816", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0068251", + "UBERON:0004288", + "UBERON:0001434", + "HP:0000083", + "GO:0032501", + "UBERON:0002204", "HP:0003126", - "UPHENO:0002832", "UPHENO:0002803", + "UPHENO:0002832", "HP:0002748", - "UPHENO:0051191", - "HP:0034359", - "UBERON:0000465", - "CHEBI:33582", + "UBERON:0004708", + "HP:0011842", + "UPHENO:0084653", + "UPHENO:0082835", + "UPHENO:0031271", + "UBERON:0010740", + "UPHENO:0080658", + "UBERON:0002495", + "UPHENO:0002785", + "HP:0000079", + "UBERON:0002513", + "UBERON:0002529", + "UPHENO:0041536", + "GO:0042592", + "UBERON:0034925", + "UBERON:0000064", + "UPHENO:0031123", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0000026", + "UPHENO:0068565", + "UPHENO:0002750", + "UBERON:0010363", + "UBERON:0010538", + "UPHENO:0051630", + "UBERON:0010712", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UPHENO:0086780", + "UBERON:0010709", + "UBERON:0008784", + "UPHENO:0002983", + "UPHENO:0002944", + "HP:0002979", + "UBERON:0002471", + "HP:0040068", + "UPHENO:0075952", + "CHEBI:24995", + "UPHENO:0002945", + "UPHENO:0031318", + "UPHENO:0002600", + "UBERON:0011582", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0015061", "CHEBI:33917", - "HP:0011038", - "CHEBI:33674", - "UPHENO:0068058", + "UBERON:0004375", + "UPHENO:0051635", + "UBERON:0001977", + "UBERON:0000383", + "UPHENO:0003095", + "UPHENO:0076285", + "UBERON:0015212", + "UPHENO:0041258", + "UBERON:0005913", + "UPHENO:0004459", + "UBERON:0002428", + "HP:0011314", + "UBERON:0034944", + "UPHENO:0080300", + "UPHENO:0002896", + "UPHENO:0031323", + "UPHENO:0031276", + "CHEBI:33608", + "HP:0000940", + "HP:0003259", + "UBERON:0010758", + "UPHENO:0076740", + "UPHENO:0086628", + "UBERON:0004381", + "HP:0002814", + "UPHENO:0002411", + "HP:0002981", + "UPHENO:0031142", + "UPHENO:0002731", + "UBERON:0006058", ], "has_phenotype_closure_label": [ - "Renal insufficiency", - "non-functional kidney", - "non-functional anatomical entity", + "macromolecule", "peptide", - "increased level of protein polypeptide chain in urine", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "Low-molecular-weight proteinuria", - "abnormal independent continuant protein polypeptide chain level", - "carboxamide", "Abnormal urine protein level", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the independent continuant", - "delayed growth", - "Growth delay", - "growth", - "decreased size of the anatomical entity in the independent continuant", - "Growth abnormality", - "carboxylic acid", - "increased level of carboxylic acid in independent continuant", + "Low-molecular-weight proteinuria", + "amino acid level phenotype", + "Abnormal urine carboxylic acid level", + "Abnormal urine amino acid level", + "hydroxides", + "increased level of organic acid in urine", "amino acid", - "Elevated urinary carboxylic acid", - "increased level of organic acid in independent continuant", + "carbon oxoacid", "carbonyl compound", - "molecule", - "Organic aciduria", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of organic acid in urine", - "hydroxides", - "organic molecule", - "abnormal urine amino acid level", - "increased level of amino acid in urine", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of protein", - "protein", - "macromolecule", - "nitrogen molecular entity", - "protein-containing molecular entity", - "alkaline phosphatase, tissue-nonspecific isozyme", - "Abnormal circulating enzyme concentration or activity", "organic amino compound", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", - "increased level of monosaccharide in urine", - "organic molecular entity", - "oxygen molecular entity", - "increased level of organic molecular entity in independent continuant", - "Abnormal urine metabolite level", - "Hypophosphatemia", - "monoatomic ion", - "decreased size of the anatomical entity", - "blood", - "inorganic ion", - "pnictogen molecular entity", + "carboxylic acid", + "urine amino acid level phenotype", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", + "Short stature", "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "organism substance", - "primary amide", - "elemental molecular entity", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "abnormal renal absorption", - "skeletal system", - "abnormal size of multicellular organism", - "bone element", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "abnormal anatomical entity mass density", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "epithelium", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "abnormal monoatomic cation homeostasis", - "abnormal bone element mass density", - "decreased role independent continuant level", - "skeletal element", - "increased level of rac-lactic acid in independent continuant", - "cavitated compound organ", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "kidney", + "upper urinary tract phenotype", + "abdomen element phenotype", + "subdivision of trunk", + "main body axis", + "subdivision of organism along main body axis", + "Abnormality of the kidney", + "Renal insufficiency", + "increased level of amino acid in urine", + "compound organ phenotype", + "abdomen", + "trunk region element", + "multicellular anatomical structure physiology phenotype", + "cavitated compound organ physiology phenotype", "Abnormality of the upper urinary tract", - "musculature of body", - "monoatomic cation", - "organ part", - "Muscle weakness", - "abdominal segment of trunk", - "decreased muscle organ strength", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", - "abnormal potassium atom level", - "abnormal renal system process", - "abnormal musculature", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "abnormality of muscle organ physiology", - "urine", - "anatomical system", - "Abnormal bone structure", - "potassium(1+)", - "abnormal blood chemical entity level", - "phosphate ion homeostasis", - "racemate", - "Aminoaciduria", - "organ system subdivision", - "abnormal genitourinary system", - "abnormal chemical homeostasis", - "decreased anatomical entity strength", - "mixture", - "epithelial tube", - "chemical substance", - "chemical entity", - "increased independent continuant acid level", - "abnormal blood monoatomic ion level", - "increased bodily fluid acid level", - "process", - "All", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "increased level of amino acid in independent continuant", - "Abnormality of the musculature", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal role urine level", - "abnormal chemical entity level", - "increased level of rac-lactic acid in urine", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "abnormal urine glucose level", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "multicellular anatomical structure", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Abnormality of the genitourinary system", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", + "abdomen element", + "abdominal segment element physiology phenotype", + "kidney physiology phenotype", + "trunk region element physiology phenotype", + "increased level of monosaccharide in urine", + "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", + "monosaccharide", + "increased urine role level", + "urine glucose level phenotype", + "carbohydrates and carbohydrate derivatives", + "role urine level phenotype", + "organism subdivision, curved phenotype", + "hindlimb zeugopod phenotype", + "shape hindlimb zeugopod", + "long bone phenotype", + "limb morphology phenotype", + "hydrogen molecular entity", + "endochondral bone phenotype", + "bone of appendage girdle complex phenotype", + "hindlimb morphology phenotype", + "Abnormality of the calf", + "aldohexose", + "zone of organ", + "organism subdivision", + "renal system phenotype", + "organic molecule", + "anatomical system physiology phenotype", + "growth", + "delayed growth", + "molecule", + "mesoderm-derived structure phenotype", + "bone element", + "decreased size of the material anatomical entity", + "abdominal segment element phenotype", + "biological_process phenotype", + "material anatomical entity phenotype", + "Abnormal renal physiology", + "chalcogen molecular entity", + "homeostatic process phenotype", + "kidney phenotype", + "blood oxygen molecular entity level phenotype", + "hematopoietic system phenotype", + "Abnormal limb bone morphology", + "blood chemical entity level phenotype", + "increased level of chemical entity in blood", + "taxon specific phenotype", + "phosphate level phenotype", + "hindlimb", + "increased level of chemical entity in blood serum", + "urine", + "increased level of creatinine in blood serum", + "Azotemia", + "imidazolidinone", + "independent continuant", + "appendage girdle complex", + "lower limb segment, curved phenotype", + "urine chemical entity level phenotype", + "oxygen molecular entity", + "organic molecular entity", + "monocyclic compound", + "size of anatomical entity phenotype", + "organ physiology phenotype", + "phenotypic effect", + "long bone", + "blood creatinine level phenotype", + "phenotype", + "bone of appendage girdle complex", + "increased blood role level", + "leg", + "body proper", + "increased level of glucose in urine", + "nitrogen molecular entity level phenotype", + "organooxygen compound", + "heteroorganic entity", + "genitourinary system", + "blood organic molecular entity level phenotype", + "Phenotypic abnormality", + "Hyperphosphaturia", + "upper urinary tract", + "Abnormality of urine homeostasis", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "growth phenotype", + "shape anatomical entity", + "nitrogen molecular entity", + "Abnormal circulating organic compound concentration", + "Metabolic acidosis", + "oxoacid", + "delayed biological_process", + "limb skeleton subdivision", + "organic heteromonocyclic compound", + "metabolic process", + "Abnormality of the urinary system physiology", + "zeugopod, curved phenotype", + "lactam", + "material anatomical entity", + "bone of free limb or fin phenotype", + "anatomical structure phenotype", + "cavitated compound organ phenotype", + "bone of free limb or fin", + "blood serum chemical entity level phenotype", + "anatomical system", + "organic cyclic compound", + "Abnormal bone structure", + "trunk", + "role blood serum level phenotype", + "limb", + "chemical entity", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", "Acidosis", "material entity", - "abnormal independent continuant potassium atom level", - "protein polypeptide chain", - "continuant", - "nephron", - "amino acid chain", - "tissue", - "monoatomic ion homeostasis", - "abnormal urine chemical entity level", - "biomacromolecule", - "p-block molecular entity", - "inorganic cation", + "shape long bone", + "anatomical system phenotype", + "musculature phenotype", + "abdomen element physiology phenotype", + "anatomical structure physiology phenotype", + "imidazolidines", + "paired limb/fin segment phenotype", + "process", + "role bodily fluid level phenotype", + "blood plasma chemical entity level phenotype", + "curved hindlimb zeugopod", + "blood serum", + "posterior region of body", + "multicellular anatomical structure", + "lateral structure phenotype", + "role blood level phenotype", + "multicellular organism chemical entity level phenotype", + "carboxamide", + "endochondral element", + "organism subdivision phenotype", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "anatomical structure", + "musculature", + "polypeptide", + "Abnormality of bone mineral density", + "Bowing of the long bones", + "limb endochondral element phenotype", + "subdivision of skeletal system", + "entity", + "s-block molecular entity", + "increased level of chemical entity in blood plasma", + "Elevated circulating creatinine concentration", + "bone element mass density phenotype", + "renal/urinary system phenotype", + "anatomical entity", + "specifically dependent continuant", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "anatomical entity physiology phenotype", + "zone of bone organ", + "limb bone phenotype", + "multicellular organism phenotype", + "heteromonocyclic compound", + "haemolymphatic fluid", + "Abnormal circulating creatinine concentration", "increased level of chemical entity", - "renal absorption", + "Abnormal urinary electrolyte concentration", + "mesoderm-derived structure", + "Abnormality of acid-base homeostasis", + "anatomical entity phenotype", + "organonitrogen compound", + "appendage", "homeostatic process", - "Abnormal enzyme concentration or activity", - "organochalcogen compound", - "Abnormal muscle physiology", "Abnormal homeostasis", - "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "main group element atom", - "carbon group molecular entity", - "metabolic process", + "organochalcogen compound", + "Abnormality of metabolism/homeostasis", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in urine", + "phosphate", + "organonitrogen heterocyclic compound", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "skeleton", + "multicellular organism", + "hematopoietic system", + "Bowing of the legs", + "Abnormality of the skeletal system", + "appendicular skeleton", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "cavitated compound organ", + "subdivision of organism along appendicular axis phenotype", + "cyclic amide", + "shape of continuant phenotype", + "paired limb/fin segment", "bodily fluid", - "abnormal urine phosphate level", - "abnormal acid bodily fluid level", + "polyatomic entity", + "main group molecular entity", + "increased level of nitrogen molecular entity in blood", + "blood plasma", + "increased level of creatinine in blood", + "creatinine", + "Abnormal circulating nitrogen compound concentration", + "carbon group molecular entity", + "increased blood serum role level", + "protein polypeptide chain", + "continuant", + "organic heterocyclic compound", + "limb segment phenotype", + "compound organ", + "phosphorus oxoacids and derivatives", + "quality", + "phosphoric acid derivative", "organic oxo compound", "excreta", - "monoatomic monocation", - "Abnormality of the urinary system physiology", - "organ", - "occurrent", - "abnormal anatomical entity", - "Metabolic acidosis", - "decreased level of potassium atom in blood", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "genitourinary system", - "atom", - "muscle structure", - "material anatomical entity", - "abnormal growth", - "independent continuant", - "abnormal renal system", - "Phenotypic abnormality", - "Hyperphosphaturia", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", + "Abnormality of limbs", + "phosphorus molecular entity", + "paired limb/fin phenotype", + "compound organ physiology phenotype", + "increased level of phosphate in urine", + "oxoacid derivative", + "renal system physiology phenotype", + "urine phosphate level phenotype", + "material anatomical entity physiology phenotype", + "Abnormality of the genitourinary system", + "leg phenotype", "renal system", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "Abnormality of the urinary system", "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "abnormal role bodily fluid level", - "abnormal biological_process", - "potassium atom", - "trunk", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "abnormal protein level", + "Abnormality of the urinary system", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", + "Decreased anatomical entity mass density", + "endochondral element phenotype", + "anatomical entity mass density phenotype", + "Aminoaciduria", + "organ system subdivision", + "heterocyclic compound", + "skeletal system", "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "polyatomic entity", - "ion", - "phosphorus molecular entity", - "chemical homeostasis", - "heteroatomic molecular entity", - "abnormal acid independent continuant level", - "monoatomic entity", - "abnormal phenotype by ontology source", - "subdivision of trunk", + "organ system subdivision phenotype", + "Abnormal skeletal morphology", + "Growth abnormality", + "anatomical entity morphology phenotype", + "subdivision of organism along appendicular axis", + "appendicular skeleton morphology phenotype", + "occurrent", + "organ", + "curved long bone", + "anatomical structure, curved phenotype", + "hemolymphoid system", + "Rickets", "multicellular organismal process", - "abnormal blood phosphate level", - "organic acid", - "ossification", - "Abnormal circulating metabolite concentration", - "main body axis", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "Elevated circulating alkaline phosphatase concentration", - "abnormality of kidney physiology", - "main group molecular entity", - "haemolymphatic fluid", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "abnormal homeostatic process", - "Renal tubular dysfunction", - "trunk region element", - "musculoskeletal system", - "abnormal upper urinary tract", - "uriniferous tubule", - "subdivision of organism along main body axis", - "organism subdivision", - "hematopoietic system", - "multicellular organism", - "Impaired renal tubular reabsorption of phosphate", - "abnormal kidney", - "abdomen", - "excretory tube", - "Abnormal blood phosphate concentration", - "phosphorus oxoacids and derivatives", - "kidney epithelium", - "compound organ", - "lateral structure", - "Abnormality of urine homeostasis", - "upper urinary tract", - "kidney", - "aldose", - "glucose", - "Abnormality of the kidney", - "chalcogen molecular entity", - "Abnormal renal physiology", - "nephron epithelium", - "Short stature", - "inorganic molecular entity", - "abnormally decreased functionality of the anatomical entity", - "carbohydrates and carbohydrate derivatives", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "aldohexose", - "oxoacid derivative", - "increased level of phosphate in urine", - "Abnormal blood cation concentration", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "Abnormal blood monovalent inorganic cation concentration", - "elemental potassium", - "s-block molecular entity", - "s-block element atom", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "carbon oxoacid", - "Abnormal blood potassium concentration", - "Hypokalemia", - "monoatomic cation homeostasis", - "cation", - "alkali metal atom", - "abnormal blood potassium(1+) level", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", - "musculature", - "decreased role blood level", - "hemolymphoid system", - "Rickets", - "abnormal independent continuant amino acid level", - "renal system process", - "anatomical entity", - "Abnormal renal tubular resorption", - "abnormal independent continuant chemical entity level", - "Abnormality of renal excretion", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", - "abnormal phosphate level", - "decreased level of chemical entity", - "system process", - "information biomacromolecule", - "Abnormal bone ossification", - "abdominal segment element", - "Glycosuria", - "monosaccharide", - "hexose", - "organooxygen compound", - "heteroorganic entity", - "body proper", - "increased level of glucose in urine", + "organ part", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "Abnormal urine pH", + "bone element phenotype", + "multicellular anatomical structure phenotype", + "skeletal element", + "zeugopod", + "musculature of body", + "skeletal element phenotype", + "lower limb segment", + "trunk region element phenotype", + "limb segment, curved phenotype", + "diazolidine", + "Reduced bone mineral density", + "skeletal system morphology phenotype", + "abdominal segment of trunk", + "anatomical entity morphology in the appendage girdle complex phenotype", + "blood nitrogen molecular entity level phenotype", + "Abnormal appendicular skeleton morphology", + "anatomical entity morphology in the pelvic complex phenotype", + "limb endochondral element", + "lateral structure physiology phenotype", + "multicellular anatomical structure, curved phenotype", + "paired limb/fin", + "skeletal system phenotype", + "curved anatomical entity", + "lateral structure", + "subdivision of skeleton", + "endochondral bone", + "increased level of protein polypeptide chain in urine", + "limb segment", + "zone of long bone", + "pelvic appendage", + "Abnormality of the lower limb", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb phenotype", + "Organic aciduria", + "Abnormal diaphysis morphology", + "organ, curved phenotype", + "musculoskeletal system", + "skeletal element, curved phenotype", + "curvature anatomical entity", + "All", + "anatomical collection", + "Growth delay", + "diaphysis", + "skeleton of limb", + "limb bone", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "zeugopod phenotype", + "bone element, curved phenotype", + "multi-limb segment region", + "appendage phenotype", + "hindlimb zeugopod morphology phenotype", + "cyclic compound", + "multi-limb segment region phenotype", + "chemical entity level phenotype", + "amide", + "Abnormality of limb bone", + "Proteinuria", + "protein-containing material entity", + "material anatomical entity, curved phenotype", + "pelvic complex", + "excretory system", + "long bone morphology phenotype", + "organ phenotype", + "lower limb segment phenotype", + "decreased size of the anatomical entity", + "blood", + "paired limb/fin segment, curved phenotype", + "primary amide", + "limb bone morphology phenotype", + "system", + "appendicular skeletal system", + "subdivision of organism along appendicular axis, curved phenotype", ], }, { - "id": "MONDO:0014275", + "id": "MONDO:0013247", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", - "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], + "name": "Fanconi renotubular syndrome 2", + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", "provided_by": "phenio_nodes", - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", + "xref": ["DOID:0080758", "GARD:15655", "MEDGEN:462002", "OMIM:613388", "UMLS:C3150652"], "synonym": [ - "EHHADH Fanconi syndrome", - "FRTS3", - "Fanconi renotubular syndrome 3", - "Fanconi renotubular syndrome type 3", - "Fanconi syndrome caused by mutation in EHHADH", + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0001942", - "HP:0001510", - "HP:0003259", - "HP:0003109", + "HP:0002749", + "HP:0000117", + "HP:0002148", + "HP:0000114", + "HP:0002757", "HP:0002748", - "HP:0002979", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", "HP:0003076", - "HP:0000083", + "HP:0003165", "HP:0004322", - "HP:0003355", - "HP:0003126", + "HP:0002653", + "HP:0012213", + "HP:0002150", + "HP:0000083", ], "has_phenotype_label": [ - "Metabolic acidosis", - "Growth delay", - "Elevated circulating creatinine concentration", - "Hyperphosphaturia", + "Osteomalacia", + "Renal phosphate wasting", + "Hypophosphatemia", + "Proximal tubulopathy", + "Recurrent fractures", "Rickets", - "Bowing of the legs", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", "Glycosuria", - "Renal insufficiency", + "Elevated circulating parathyroid hormone level", "Short stature", - "Aminoaciduria", - "Low-molecular-weight proteinuria", + "Bone pain", + "Decreased glomerular filtration rate", + "Hypercalciuria", + "Renal insufficiency", ], - "has_phenotype_count": 11, + "has_phenotype_count": 17, "has_phenotype_closure": [ - "UPHENO:0068247", - "HP:0000093", - "UPHENO:0068565", - "CHEBI:16541", - "UPHENO:0051801", - "CHEBI:15841", - "CHEBI:16670", - "CHEBI:50047", - "UPHENO:0051670", - "CHEBI:36586", - "CHEBI:36587", - "UPHENO:0068169", - "HP:0003355", - "CHEBI:24651", - "CHEBI:33575", - "HP:0012072", - "HP:0032943", - "UPHENO:0068495", - "UPHENO:0046286", - "UPHENO:0068091", - "UPHENO:0051930", - "HP:0031980", - "CHEBI:33709", + "HP:0002150", + "HP:0011280", + "UPHENO:0046344", + "CHEBI:33559", + "UPHENO:0068134", + "HP:0025142", + "HP:0012531", + "UPHENO:0075195", + "UPHENO:0069327", + "GO:0040007", + "HP:0001510", "UPHENO:0081424", - "UPHENO:0068971", "UPHENO:0069254", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0000541", + "UPHENO:0049874", "UPHENO:0075159", - "UPHENO:0075195", - "UPHENO:0086132", - "UBERON:0000916", - "HP:0012211", - "UBERON:0000489", - "UBERON:0005173", - "UBERON:0009569", - "UBERON:0013701", - "UBERON:0011676", - "UBERON:0002113", - "UBERON:0011143", - "UPHENO:0075902", - "HP:0000077", - "CHEBI:78616", - "CHEBI:18133", - "UPHENO:0081544", - "CHEBI:15693", - "CHEBI:33674", - "UPHENO:0068058", - "CHEBI:17234", - "CHEBI:35381", - "UPHENO:0052116", - "HP:0012591", - "UBERON:0002417", - "UPHENO:0082129", - "CHEBI:23443", - "UPHENO:0001001", - "CHEBI:16646", - "CHEBI:38304", - "HP:0012100", - "CHEBI:37622", - "CHEBI:24532", - "UPHENO:0077826", - "CHEBI:33661", - "UPHENO:0001002", - "UBERON:0002193", - "CHEBI:33675", - "UPHENO:0068538", - "UBERON:0004120", - "HP:0040064", - "UPHENO:0068144", - "UBERON:0010707", - "HP:0000002", - "HP:0033354", - "HP:0002157", - "UPHENO:0079534", - "CHEBI:50860", - "CHEBI:32988", - "UPHENO:0002411", - "HP:0002981", - "CHEBI:35352", - "HP:0430071", - "BFO:0000020", - "UPHENO:0068491", - "UPHENO:0012541", - "CHEBI:36360", - "UPHENO:0051640", - "UPHENO:0081546", + "HP:0000818", + "UPHENO:0068068", + "UPHENO:0051648", + "HP:0002152", + "UPHENO:0068971", + "CHEBI:33695", + 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"BFO:0000003", - "HP:0011844", - "UBERON:0004709", - "BFO:0000001", - "CHEBI:16737", - "UPHENO:0076289", - "CHEBI:25693", - "UBERON:0000061", - "BFO:0000015", - "UBERON:0005055", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0048707", + "HP:0031415", + "UPHENO:0004791", "HP:0011849", - "UBERON:0011216", - "UBERON:0005172", + "UPHENO:0048707", + "UPHENO:0082534", + "HP:0002749", + "UPHENO:0002668", + "UPHENO:0082835", + "GO:0044281", + "UBERON:0001088", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0004211", + "UPHENO:0002564", + "UBERON:0007684", + "UBERON:0009773", "UPHENO:0052038", - "UBERON:0001969", - "UBERON:0001062", - "UPHENO:0001005", - "UBERON:0000465", - "CHEBI:33582", - "UPHENO:0081547", - "HP:0012337", - "HP:0032180", - "UPHENO:0082536", - "HP:0001992", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002909", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000483", + "UPHENO:0068533", + "CHEBI:47042", + "UBERON:0005173", + "UPHENO:0066950", + "UPHENO:0066903", + "UBERON:0005177", + "UPHENO:0002210", + "HP:0012211", + "UPHENO:0076285", + "UBERON:0015212", + "UPHENO:0002411", + "HP:0004348", + "UPHENO:0002311", + "UPHENO:0002308", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0009569", + "CHEBI:24651", + "HP:0003117", "UBERON:0002390", + "UPHENO:0051709", "UBERON:0010000", - "UPHENO:0068089", - "HP:0001871", - "UPHENO:0049874", - "UBERON:0003823", - "HP:0001939", - "CHEBI:36962", - "UPHENO:0002830", - "CHEBI:64709", - "UPHENO:0079536", - "UPHENO:0080659", - "CHEBI:33579", - "UPHENO:0051668", - "CHEBI:24995", - "HP:0000924", - "UBERON:0000174", - "GO:0001503", - "HP:0020129", - "UPHENO:0046348", - "UBERON:0005177", - "UPHENO:0051847", - "UPHENO:0041258", - "CHEBI:33241", - "CHEBI:26082", - "UPHENO:0051686", - "HP:6000531", - "UPHENO:0068352", - "UPHENO:0051739", - "UPHENO:0051900", - "HP:0010935", - "UBERON:0004122", - "UBERON:0002100", + "HP:0001992", + "UPHENO:0066943", "UPHENO:0082875", + "UBERON:0002100", "UBERON:0001474", - "HP:0011277", - "HP:0012599", - "UPHENO:0081423", - "UPHENO:0002642", - "UBERON:0001088", - "UPHENO:0078554", - "UPHENO:0002332", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0084763", - "HP:0040156", - "UBERON:0000463", - "CHEBI:26020", - "UPHENO:0082835", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0068251", - "UBERON:0004288", - "UPHENO:0075696", - "HP:0011842", - "UBERON:0001434", - "HP:0000083", - "GO:0032501", - "HP:0003330", - "UPHENO:0041610", - "HP:0003126", - "UPHENO:0002803", + "UPHENO:0003430", + "CHEBI:18133", + "HP:0025745", + "UPHENO:0002360", + "UPHENO:0024906", + "CHEBI:17234", + "UPHENO:0066946", + "CHEBI:24870", + "UPHENO:0003941", + "UPHENO:0002377", + "UPHENO:0002754", + "CHEBI:36853", + "UBERON:0004819", + "UPHENO:0003094", + "HP:0012591", + "UPHENO:0066925", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0002248", + "UPHENO:0089294", + "CHEBI:36587", + "UBERON:0000916", + "UPHENO:0002386", + "UBERON:0000479", + "UPHENO:0066959", + "UPHENO:0066913", + "UBERON:0000475", + "HP:0003165", + "UBERON:0013701", + "UBERON:0001285", + "UPHENO:0046284", + "UPHENO:0002426", + "UPHENO:0002346", + "UPHENO:0068049", + "CHEBI:51143", + "UBERON:0002204", + "UPHENO:0081440", + "HP:0032943", + "HP:0032245", + "HP:0002757", + "UPHENO:0002385", + "HP:0002659", + "HP:0011843", "UPHENO:0002832", + "UPHENO:0002803", "HP:0002748", - "UBERON:0004708", - "UBERON:0002204", - "UPHENO:0068054", - "UPHENO:0020041", - "HP:0004348", - "UPHENO:0084653", - "UBERON:0000062", - "RO:0002577", - "UPHENO:0004459", - "UBERON:0002428", - "UBERON:0005913", - "UBERON:0004381", - "UPHENO:0068472", - "UBERON:0000154", - "HP:0003259", - "UBERON:0010758", + "HP:0000938", + "HP:0012072", + "UPHENO:0046281", "CHEBI:25806", - "UPHENO:0082449", - "UBERON:0000064", - "UPHENO:0086628", - "UPHENO:0077858", - "UPHENO:0080352", - "UBERON:0000179", - "UBERON:0000026", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0041226", - "HP:0002979", - "UPHENO:0082543", - "UBERON:0002471", - "CHEBI:33608", - "HP:0000940", - "UBERON:0010709", - "UPHENO:0051630", - "UPHENO:0068190", - "UBERON:0010712", + "CHEBI:33521", + "UPHENO:0082541", + "CHEBI:36586", "CHEBI:35605", - "UPHENO:0041591", - "UBERON:0002091", - "UPHENO:0031310", - "UPHENO:0020584", - "UBERON:0013702", - "CHEBI:33304", - "HP:0002813", - "UBERON:0002529", - "UPHENO:0041536", - "HP:0040068", - "UPHENO:0075952", - "UPHENO:0086780", - "UPHENO:0076285", - "UBERON:0015212", - "UBERON:0006058", - "UBERON:0010538", - "HP:0002814", - "UPHENO:0003070", - "HP:0011314", - "UBERON:0011582", - "UBERON:0010912", - "HP:0004322", - "UBERON:0015061", - "CHEBI:33917", - "UBERON:0004375", - "UBERON:0002103", - "UBERON:0034944", - "UPHENO:0080300", - "UPHENO:0002896", - "UBERON:0010740", - "UPHENO:0080658", - "UBERON:0002495", - "HP:0000079", - "UBERON:0002513", - "UPHENO:0084767", - "GO:0042592", - "UBERON:0034925", - "UBERON:0000075", - "UBERON:0000475", - "UPHENO:0068040", - "UBERON:0008784", + "CHEBI:33709", + "CHEBI:33285", + "CHEBI:25367", + "UPHENO:0002267", + "UBERON:0003914", + "CHEBI:64709", + "CHEBI:33608", + "UPHENO:0046286", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:33575", + "CHEBI:50047", + "HP:0031980", + "HP:0000002", + "HP:0002157", + "UPHENO:0066921", + "HP:0033354", + "UPHENO:0049723", + "UPHENO:0046383", + "CHEBI:22984", + "CHEBI:26020", + "UBERON:0000463", + "HP:0040156", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0002642", + "HP:0002909", + "UPHENO:0068144", + "CHEBI:33674", + "UBERON:0001008", + "CHEBI:24833", + "CHEBI:50860", + "CHEBI:36962", + "HP:0003355", ], "has_phenotype_closure_label": [ - "peptide", - "macromolecule", - "increased level of protein polypeptide chain in independent continuant", - "Low-molecular-weight proteinuria", - "abnormal independent continuant protein polypeptide chain level", - "Abnormal urine protein level", - "carboxylic acid", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "increased level of organic acid in independent continuant", - "carbon oxoacid", - "carbonyl compound", - "Abnormal urine pH", - "increased independent continuant base level", - "increased level of organic acid in urine", - "hydroxides", - "increased level of amino acid in independent continuant", - "abnormal urine amino acid level", - "hydrogen molecular entity", - "increased level of amino acid in urine", - "organic amino compound", - "abnormal amino acid level", - "abnormal size of anatomical entity", - "Abnormality of body height", - "decreased height of the multicellular organism", - "Short stature", - "decreased size of the anatomical entity in the independent continuant", - "abdomen element", - "Abnormality of the kidney", "Renal insufficiency", - "kidney", - "cavitated compound organ", - "abdominal segment of trunk", - "trunk", - "abdomen", - "abnormal kidney", - "non-functional kidney", - "non-functional anatomical entity", - "Abnormality of the upper urinary tract", - "main body axis", - "subdivision of organism along main body axis", - "trunk region element", - "increased level of glucose in independent continuant", - "abnormal role urine level", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "increased level of monosaccharide in urine", - "Abnormal urine metabolite level", - "body proper", - "increased level of glucose in urine", - "abnormal urine glucose level", - "glucose", - "aldose", - "hexose", - "organonitrogen heterocyclic compound", - "abnormal shape of continuant", - "increased level of creatinine in independent continuant", - "primary amide", - "phenotype by ontology source", + "alkaline earth metal atom", + "Abnormality of urine calcium concentration", + "increased level of calcium atom in urine", + "calcium atom level phenotype", + "metal atom", + "Hypercalciuria", + "s-block element atom", + "Abnormal glomerular filtration rate", + "Pain", + "atom", + "anatomical entity height phenotype", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", "growth", - "increased level of chemical entity in blood", - "multicellular organism", - "hematopoietic system", - "abnormality of kidney physiology", - "main group molecular entity", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "zone of bone organ", - "haemolymphatic fluid", - "heteromonocyclic compound", - "hindlimb", - "abnormal blood nitrogen molecular entity level", - "molecule", - "organic molecular entity", - "Aciduria", - "Abnormality of the urinary system", - "oxygen molecular entity", - "increased level of creatinine in blood", - "increased bodily fluid acid level", "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", + "Growth delay", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "protein", + "Elevated circulating parathyroid hormone level", + "Abnormality of the endocrine system", + "blood nitrogen molecular entity level phenotype", + "Abnormality of acid-base homeostasis", + "increased level of protein", + "Abnormal circulating organic amino compound concentration", + "blood organic amino compound level phenotype", "increased level of chemical entity in blood serum", - "urine", - "increased level of creatinine in blood serum", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", + "protein level phenotype", + "increased level of protein in blood", + "Alkalosis", "Azotemia", - "anatomical system", - "organic molecule", - "monocyclic compound", - "Abnormal bone structure", - "organic cyclic compound", - "phenotype", + "parathyroid hormone", + "Hyperproteinemia", + "Acute phase response", + "Abnormal circulating nitrogen compound concentration", + "non-connected functional system", + "Short stature", + "endocrine system", + "blood serum", + "disconnected anatomical group", + "blood plasma", "increased level of nitrogen molecular entity in blood", - "abnormal blood chemical entity level", - "imidazolidines", - "organooxygen compound", - "upper urinary tract", - "Abnormality of urine homeostasis", - "shape anatomical entity", - "Abnormal circulating creatinine concentration", - "increased level of chemical entity", - "heteroorganic entity", - "abnormal role blood serum level", + "blood protein polypeptide chain level phenotype", + "endocrine system phenotype", + "aldohexose", + "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", + "monosaccharide", + "urine glucose level phenotype", + "macromolecule", + "increased level of protein polypeptide chain in urine", + "peptide", + "Abnormal urine protein level", + "vitamin D metabolic process", + "small molecule metabolic process", + "glandular system", + "primary metabolic process", + "increased level of lipid in blood", + "blood plasma chemical entity level phenotype", + "role bodily fluid level phenotype", + "main group element atom", + "hormone blood level phenotype", + "increased level of chemical entity in blood", + "decreased height of the multicellular organism", + "organic hydroxy compound metabolic process phenotype", + "primary metabolic process phenotype", + "small molecule metabolic process phenotype", + "blood organic molecular entity level phenotype", + "carbohydrates and carbohydrate derivatives", + "organic hydroxy compound", + "polycyclic compound", + "increased blood role level", + "calcitriol", + "vitamin D", + "polyol", + "steroid metabolic process phenotype", + "steroid metabolic process", + "increased level of calcitriol in blood", + "growth phenotype", + "blood lipid level phenotype", + "vitamin metabolic process", + "increased level of lipid", + "organic hydroxy compound metabolic process", + "lipid metabolic process", + "triol", + "cyclic compound", + "steroid", + "lipid level phenotype", + "Abnormality of vitamin metabolism", + "organism substance", + "decreased level of chemical entity in blood", + "blood monoatomic ion level phenotype", + "mesoderm-derived structure phenotype", + "bone element", + "primary amide", + "elemental molecular entity", + "blood chemical entity level phenotype", + "hydroxy seco-steroid", + "hematopoietic system phenotype", + "monoatomic entity", + "subdivision of trunk", + "decreased functionality of the nephron tubule", + "Hypophosphatemia", + "monoatomic ion", + "heteroatomic molecular entity", + "excretory system", + "vitamin metabolic process phenotype", + "abdomen element phenotype", + "organic cyclic compound metabolic process", + "ion", + "biomacromolecule", + "p-block molecular entity", + "renal system physiology phenotype", + "pnictogen molecular entity", + "role blood serum level phenotype", + "trunk", + "chemical entity", + "amide", + "chemical entity level phenotype", + "trunk region element", + "Abnormal urine amino acid level", "phosphorus molecular entity", - "blood plasma", + "tissue physiology phenotype", + "Abnormality of the skeletal system", + "amino acid level phenotype", + "hydroxycalciol", + "Abnormality of the urinary system physiology", + "renal system phenotype", + "Abnormality of the urinary system", + "Aciduria", + "organic molecule", + "trunk region element physiology phenotype", + "homeostatic process phenotype", + "main group molecular entity", + "urine phosphate level phenotype", + "material anatomical entity physiology phenotype", + "polyatomic entity", "decreased size of the anatomical entity", "blood", - "imidazolidinone", - "chemical entity", - "increased independent continuant acid level", - "process", - "abnormal blood plasma chemical entity level", - "abnormal role independent continuant level", - "delayed growth", - "Abnormal circulating nitrogen compound concentration", - "carbon group molecular entity", - "abnormal independent continuant chemical entity level", - "increased blood serum role level", - "p-block molecular entity", - "Elevated urinary carboxylic acid", - "skeleton", - "abnormal independent continuant creatinine level", - "s-block molecular entity", - "increased level of chemical entity in blood plasma", - "Elevated circulating creatinine concentration", - "organism substance", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "subdivision of skeletal system", - "entity", - "Abnormal urinary electrolyte concentration", "mesoderm-derived structure", - "Abnormal circulating organic compound concentration", - "Abnormality of metabolism/homeostasis", - "abnormal role blood level", - "increased level of chemical entity in bodily fluid", - "increased level of chemical entity in urine", - "abnormal bone element mass density", + "Abnormal urinary electrolyte concentration", + "phosphate level phenotype", + "Alkalemia", + "Proteinuria", + "protein-containing material entity", "phosphate", - "abnormal multicellular organism chemical entity level", - "Hyperphosphaturia", - "Phenotypic abnormality", - "blood serum", - "increased level of chemical entity in independent continuant", - "renal system", - "Abnormality of the urinary system physiology", - "abnormal acid bodily fluid level", - "organic oxo compound", - "excreta", - "anatomical structure", - "polypeptide", - "abnormal limb", - "Abnormality of bone mineral density", - "Bowing of the long bones", - "Acidosis", - "material entity", - "long bone", - "organic heterocyclic compound", - "organism subdivision", - "organic acid", - "Abnormal circulating metabolite concentration", - "ossification", - "abnormal hindlimb zeugopod", + "lipid metabolic process phenotype", + "bone element mass density phenotype", + "amino acid", + "molecule", + "Growth abnormality", + "anatomical entity morphology phenotype", + "skeletal system phenotype", "protein polypeptide chain", "continuant", - "abnormal acid independent continuant level", - "organic heteromonocyclic compound", - "oxoacid", - "delayed biological_process", - "limb skeleton subdivision", - "abnormal blood creatinine level", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "metabolic process", - "multi-limb segment region", - "bodily fluid", - "abnormal urine phosphate level", - "Metabolic acidosis", - "multicellular anatomical structure", - "posterior region of body", - "independent continuant", - "abnormal growth", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "Abnormality of acid-base homeostasis", + "amino acid chain", + "anatomical system physiology phenotype", + "tissue", + "nephron", "Abnormal homeostasis", "organochalcogen compound", - "homeostatic process", - "abnormal hindlimb zeugopod morphology", - "appendage girdle complex", + "Increased susceptibility to fractures", + "skeletal element", + "cavitated compound organ", + "anatomical structure", + "Decreased glomerular filtration rate", + "musculature", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical conduit", + "musculoskeletal system phenotype", + "increased level of organic acid in urine", + "musculature of body", + "organic cyclic compound", + "Abnormal bone structure", + "blood serum chemical entity level phenotype", + "anatomical system", + "lipid", "material anatomical entity", - "cyclic compound", - "appendage", - "organonitrogen compound", + "Abnormal circulating protein concentration", + "increased level of parathyroid hormone in blood serum", + "entity", + "metabolic process", + "Decreased anatomical entity mass density", + "taxon specific phenotype", + "Abnormal blood ion concentration", + "Abnormality of the musculoskeletal system", + "renal/urinary system phenotype", "anatomical entity", - "increased blood role level", - "leg", - "Growth abnormality", - "polyatomic entity", - "abnormal role bodily fluid level", - "abnormal biological_process", - "lactam", - "increased independent continuant role level", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the appendage girdle complex", - "appendicular skeleton", - "carboxamide", - "endochondral element", - "creatinine", - "abnormal blood serum chemical entity level", - "occurrent", - "organ", - "curved long bone", - "cyclic amide", - "paired limb/fin segment", - "pnictogen molecular entity", - "Abnormal renal physiology", - "chalcogen molecular entity", - "abnormal urine chemical entity level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormal phosphate level", - "Abnormality of the skeletal system", - "Bowing of the legs", - "abnormal independent continuant phosphate level", - "Growth delay", - "diaphysis", - "All", - "anatomical collection", - "abnormal leg", - "abnormal renal system", - "hindlimb zeugopod", - "Abnormal long bone morphology", - "compound organ", - "phosphorus oxoacids and derivatives", - "abnormality of anatomical entity physiology", - "excretory system", - "genitourinary system", - "phosphorus oxoacid derivative", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "curvature anatomical entity in independent continuant", - "oxoacid derivative", - "increased level of phosphate in urine", - "abnormal genitourinary system", - "abnormal hindlimb morphology", + "anatomical structure phenotype", "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "increased level of phosphate in independent continuant", - "abnormal skeletal system", - "quality", - "abnormality of renal system physiology", "phosphoric acid derivative", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "diazolidine", + "quality", + "carbon oxoacid", "Reduced bone mineral density", - "heterocyclic compound", + "increased level of parathyroid hormone in blood", + "hydroxy steroid", + "renal tubule phenotype", + "nephron tubule phenotype", + "epithelial tube physiology phenotype", + "anatomical system phenotype", + "musculature phenotype", + "hematopoietic system", + "multicellular organism", + "abdominal segment element physiology phenotype", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "increased level of vitamin D", + "tissue phenotype", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "urine calcium atom level phenotype", + "process", + "size of anatomical entity phenotype", + "phenotypic effect", + "organ physiology phenotype", + "main body axis", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "anatomical conduit phenotype", + "multicellular anatomical structure phenotype", + "anatomical entity physiology phenotype", + "carboxamide", + "Generalized aminoaciduria", + "multicellular organism chemical entity level phenotype", "skeletal system", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", - "abnormal anatomical entity mass density", - "abnormal upper urinary tract", - "curvature anatomical entity", - "musculoskeletal system", - "Abnormal skeletal morphology", - "Decreased anatomical entity mass density", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "abnormal size of multicellular organism", - "bone element", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "hemolymphoid system", - "Rickets", - "abnormal independent continuant glucose level", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal hindlimb zeugopod, curved", + "lateral structure physiology phenotype", + "Abnormality of metabolism/homeostasis", + "Osteopenia", + "Renal phosphate wasting", + "kidney physiology phenotype", + "increased blood serum base level", "multicellular organismal process", "organ part", - "abnormal appendicular skeleton morphology", - "curved anatomical entity in independent continuant", - "Abnormality of the lower limb", - "Abnormality of the calf", - "abdominal segment element", - "Abnormal bone ossification", + "multicellular anatomical structure", + "specifically dependent continuant", + "organ", + "occurrent", + "haemolymphatic fluid", + "All", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "material entity", + "organic amino compound", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", + "Recurrent fractures", + "carbonyl compound", + "musculoskeletal system", + "fat-soluble vitamin metabolic process", + "hydrogen molecular entity", + "nephron tubule", + "organ system subdivision", + "Aminoaciduria", + "Abnormality of vitamin D metabolism", + "independent continuant", + "skeletal element phenotype", + "organ phenotype", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "vitamin D metabolic process phenotype", + "seco-steroid", + "bodily fluid", + "material anatomical entity phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "Abnormal circulating metabolite concentration", + "organic acid", + "ossification", + "calcium atom", + "increased blood serum role level", + "decreased functionality of the kidney epithelium", + "Phenotypic abnormality", + "information biomacromolecule", + "blood parathyroid hormone level phenotype", "Glycosuria", - "subdivision of organism along appendicular axis", - "lower limb segment", - "skeletal element", - "zeugopod", - "abnormal anatomical entity, curved", - "increased level of protein polypeptide chain in urine", - "limb segment", - "abnormal anatomical entity morphology in the independent continuant", - "aldohexose", - "zone of organ", - "amide", - "Abnormality of limb bone", - "Organic aciduria", - "Abnormal diaphysis morphology", - "abnormal limb bone morphology", - "limb bone", - "increased level of organic molecular entity in independent continuant", - "shape long bone", - "abnormal limb bone", - "skeleton of limb", - "abnormal long bone morphology", - "zone of long bone", - "pelvic appendage", - "paired limb/fin", - "pelvic complex", - "abnormal chemical entity level", - "appendicular skeletal system", - "shape anatomical entity in independent continuant", - "limb", + "Abnormal bone ossification", + "abdominal segment element", + "role blood level phenotype", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "Abnormal metabolism", + "organ system subdivision phenotype", + "epithelium phenotype", "lateral structure", - "curved hindlimb zeugopod", + "nephron epithelium", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "decreased functionality of the excretory tube", + "abdomen element", + "epithelium physiology phenotype", + "decreased functionality of the material anatomical entity", + "blood oxygen molecular entity level phenotype", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "organic molecular entity", + "epithelium", + "decreased functionality of the tube", + "Bone pain", + "Abnormality of the upper urinary tract", + "tube phenotype", + "increased bodily fluid base level", + "increased level of glucose in urine", + "blood phosphate level phenotype", + "nitrogen molecular entity level phenotype", + "body proper", + "decreased size of the material anatomical entity", + "biological_process phenotype", + "abdominal segment element phenotype", + "Constitutional symptom", + "tube physiology phenotype", + "cavitated compound organ phenotype", + "Renal tubular dysfunction", + "decreased functionality of the renal tubule", + "Abnormal circulating hormone concentration", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", + "homeostatic process", + "excretory tube physiology phenotype", + "decreased functionality of the tissue", + "Abnormal skeletal morphology", + "musculoskeletal system physiology phenotype", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "epithelial tube", + "tube", + "abdominal segment of trunk", + "urine amino acid level phenotype", + "abdomen", + "decreased level of chemical entity", + "Abnormal urine carboxylic acid level", + "decreased functionality of the anatomical conduit", + "trunk region element phenotype", + "decreased functionality of the anatomical structure", + "Abnormality of the kidney", + "excretory tube", + "oxoacid derivative", + "compound organ physiology phenotype", + "decreased functionality of the multicellular anatomical structure", + "uriniferous tubule", + "epithelial tube phenotype", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "Proximal tubulopathy", + "organism subdivision", + "D3 vitamins", + "nephron epithelium phenotype", + "decreased functionality of the epithelium", + "decreased functionality of the nephron epithelium", + "upper urinary tract phenotype", + "excretory tube phenotype", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "hemolymphoid system", + "Rickets", + "role urine level phenotype", + "carboxylic acid", + "decreased functionality of the epithelial tube", + "bone element phenotype", + "Abnormal urine pH", + "organic substance metabolic process", + "High serum calcitriol", + "increased level of chemical entity", + "increased urine role level", + "hydroxides", + "anatomical entity phenotype", + "organonitrogen compound", + "heteroorganic entity", + "organooxygen compound", + "Abnormal urine phosphate concentration", + "increased level of carboxylic acid in urine", + "excreta", + "organic oxo compound", + "multicellular organism morphology phenotype", + "Abnormal urine metabolite level", "nitrogen molecular entity", - "abnormal limb morphology", - "system", - "monosaccharide", - "subdivision of skeleton", - "endochondral bone", - "heteroatomic molecular entity", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "curved anatomical entity", - "abnormal diaphysis morphology", - "Abnormal appendicular skeleton morphology", - "carbohydrates and carbohydrate derivatives", + "urine chemical entity level phenotype", + "oxygen molecular entity", + "carbon group molecular entity", + "organic polycyclic compound", + "Abnormal renal physiology", + "chalcogen molecular entity", + "Organic aciduria", + "Elevated urinary carboxylic acid", + "metabolic process phenotype", + "compound organ phenotype", + "increased level of amino acid in urine", + "increased level of chemical entity in urine", + "vitamin D level phenotype", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in blood plasma", + "s-block molecular entity", ], }, { - "id": "MONDO:0030056", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 5", - "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], + "name": "Fanconi renotubular syndrome 1", "provided_by": "phenio_nodes", + "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"], "synonym": [ - "FANCONI RENOTUBULAR SYNDROME 5", - "FRTS5", - "Fanconi Renotubular Syndrome, Acadian Variant", - "Fanconi renotubular syndrome 5", + "DeToni-Debré-Fanconi syndrome", + "FRTS1", + "Fanconi renotubular syndrome", + "Fanconi renotubular syndrome 1", + "Fanconi syndrome without cystinosis", + "Luder-Sheldon syndrome", + "adult Fanconi syndrome", + "primary Fanconi renal syndrome", + "primary Fanconi renotubular syndrome", + "renal Fanconi syndrome", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0002857", - "HP:0045051", + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0003155", "HP:0002148", - "HP:0002206", - "HP:0004912", - "HP:0004918", - "HP:0000093", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", "HP:0003076", - "HP:0002097", + "HP:0000083", "HP:0003355", - "HP:0005576", - "HP:0003774", - "HP:0000822", - "HP:0030078", + "HP:0004322", + "HP:0003126", + "HP:0001324", ], "has_phenotype_label": [ - "Genu valgum", - "Decreased DLCO", + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Elevated circulating alkaline phosphatase concentration", "Hypophosphatemia", - "Pulmonary fibrosis", - "Hypophosphatemic rickets", - "Hyperchloremic metabolic acidosis", - "Proteinuria", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", "Glycosuria", - "Emphysema", + "Renal insufficiency", "Aminoaciduria", - "Tubulointerstitial fibrosis", - "Stage 5 chronic kidney disease", - "Hypertension", - "Lung adenocarcinoma", + "Short stature", + "Low-molecular-weight proteinuria", + "Muscle weakness", ], - "has_phenotype_count": 14, + "has_phenotype_count": 16, "has_phenotype_closure": [ - "HP:0100526", - "HP:0002664", - "HP:0011793", - "UBERON:0000055", - "UBERON:0034923", - "HP:0002597", - "UBERON:0002049", - 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"UBERON:0004119", - "UPHENO:0079873", - "HP:0002206", - "UBERON:0005181", - "UBERON:0002075", - "UBERON:0000475", - "UPHENO:0087433", - "UPHENO:0020748", - "HP:0032180", - "UBERON:0000065", - "UPHENO:0068110", - "UBERON:0003103", - "HP:0005576", - "UBERON:0001005", - "HP:0003330", - "HP:0004348", - "UPHENO:0084653", - "HP:0004918", - "UPHENO:0076289", + "HP:0001871", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "UPHENO:0051960", + "UPHENO:0066739", + "UPHENO:0075902", + "HP:0001507", + "CHEBI:37577", + "HP:0001510", + "HP:0003109", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", + "UPHENO:0051900", + "CHEBI:33238", + "CHEBI:33259", + "HP:0011277", + "UPHENO:0046283", + "UBERON:0000064", + "CHEBI:26082", + "UPHENO:0002287", + "UBERON:0004122", + "HP:0010935", + "UPHENO:0002246", + "UPHENO:0005141", + "UPHENO:0002859", + "CHEBI:78616", + "HP:0000077", + "UPHENO:0002564", + "UBERON:0007684", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002909", + "CHEBI:16646", + "HP:0000124", "UBERON:0000483", - "HP:0002979", - "UBERON:0002471", - "UPHENO:0082543", - "CHEBI:72695", - "UPHENO:0068064", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0079536", + "UBERON:0005173", + "UPHENO:0066950", + "UPHENO:0066903", + "UBERON:0005177", + "UPHENO:0002210", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", + "HP:0012211", + "UBERON:0015212", + "HP:0004348", + "UPHENO:0002311", + "UPHENO:0002308", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0009569", + "HP:0000002", + "HP:0033354", + "UPHENO:0066921", + "HP:0001992", + "UPHENO:0051709", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0066943", + "HP:0004322", + "UPHENO:0002568", + "CHEBI:26216", + "UPHENO:0082875", + "CHEBI:28358", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0003430", + "UPHENO:0002360", + "UPHENO:0024906", + "CHEBI:17234", + "UPHENO:0066946", + "CHEBI:24870", + "UPHENO:0003941", + "UPHENO:0002377", + "UPHENO:0002754", + "UBERON:0004819", + "UPHENO:0003094", + "HP:0012591", + "UPHENO:0066925", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0002248", + "UBERON:0000916", + "UPHENO:0002386", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UPHENO:0066959", + "UPHENO:0066913", + "UBERON:0000475", + "UBERON:0013701", + "UBERON:0001285", + "HP:0012599", + "UPHENO:0005201", + "HP:0010929", "UPHENO:0081547", - "HP:0012337", + "UBERON:0002113", + "CHEBI:33250", + "CHEBI:33559", + "UPHENO:0051645", + "CHEBI:36914", + "UPHENO:0079822", + "UBERON:0000061", + "CHEBI:36916", ], "has_phenotype_closure_label": [ - "Neoplasm", - "Neoplasm of the respiratory system", - "Abnormality of the vasculature", - "abnormal cardiovascular system", - "disconnected anatomical group", - "cardiovascular system", - "blood vasculature", - "Abnormal systemic blood pressure", - "Hypertension", - "Renal insufficiency", - "non-functional kidney", - "abnormal vasculature", - "Chronic kidney disease", - "Increased blood pressure", - "Tubulointerstitial fibrosis", - "Abnormal renal insterstitial morphology", - "renal tubule", - "uriniferous tubule", - "nephron epithelium", - "abdomen element", - "Abnormality of the kidney", - "excretory tube", - "cavitated compound organ", - "abdominal segment of trunk", - "abdomen", - "abnormal kidney", - "Abnormal renal morphology", - "tissue", - "anatomical cluster", - "abnormal kidney epithelium morphology", - "Abnormality of the upper urinary tract", - "Abnormal nephron morphology", - "carboxylic acid", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "increased level of organic acid in independent continuant", - "carbon oxoacid", - "carbonyl compound", + "decreased muscle organ strength", + "muscle structure physiology phenotype", + "muscle structure phenotype", + "Abnormality of the musculature", + "muscle organ physiology phenotype", + "muscle organ", + "increased level of protein polypeptide chain in urine", + "peptide", + "Abnormal urine protein level", + "Low-molecular-weight proteinuria", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", + "growth", + "growth phenotype", + "decreased height of the anatomical entity", + "Growth delay", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "s-block molecular entity", "molecule", - "Abnormal urine pH", - "abnormal nephron tubule morphology", - "increased level of organic acid in urine", + "amino acid level phenotype", + "Elevated urinary carboxylic acid", + "Organic aciduria", + "Abnormal urine amino acid level", "hydroxides", "organic molecule", - "oxoacid", - "s-block molecular entity", - "increased level of carboxylic acid in urine", - "abnormal urine amino acid level", - "Abnormal renal tubule morphology", - "nephron tubule", - "hydrogen molecular entity", - "increased level of amino acid in urine", - "abnormal amino acid level", - "Emphysema", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", + "increased level of organic acid in urine", + "amino acid", + "carbonyl compound", + "carboxylic acid", + "urine amino acid level phenotype", + "Renal insufficiency", + "aldohexose", + "hexose", "Abnormal urinary organic compound level", - "Lung adenocarcinoma", - "increased level of monosaccharide in urine", - "abnormal metabolite independent continuant level", - "abnormal urine glucose level", - "glucose", "aldose", - "hexose", + "glucose", + "organooxygen compound", "monosaccharide", - "increased level of monosaccharide in independent continuant", + "urine glucose level phenotype", "carbohydrates and carbohydrate derivatives", - "abnormal role urine level", - "vascular system", - "increased level of chemical entity in urine", - "peptide", - "urine", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", + "renal absorption", + "renal absorption phenotype", + "Abnormality of renal excretion", + "renal system process", + "cation", + "inorganic ion", + "decreased level of potassium atom in blood", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "role bodily fluid level phenotype", + "Abnormal blood monovalent inorganic cation concentration", + "potassium atom level phenotype", + "Hypophosphatemia", + "monoatomic ion", + "protein", "macromolecule", - "abnormal genitourinary system", "organic molecular entity", - "oxygen molecular entity", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "heteroatomic molecular entity", + "tube phenotype", + "increased level of glucose in urine", + "blood phosphate level phenotype", + "nitrogen molecular entity level phenotype", + "body proper", + "alkaline phosphatase, tissue-nonspecific isozyme level phenotype", + "anatomical system phenotype", + "musculature phenotype", + "organic amino compound", + "material entity", + "Abnormality of alkaline phosphatase level", + "excretory system", + "abdomen element phenotype", + "alkaline phosphatase, tissue-nonspecific isozyme", + "nephron epithelium", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "polyatomic entity", + "racemate", + "renal system physiology phenotype", + "rac-lactic acid", + "amide", + "chemical entity level phenotype", + "trunk region element", + "chemical substance", "organic oxo compound", "excreta", - "increased independent continuant base level", - "abnormal independent continuant nitrogen molecular entity level", - "increased level of protein polypeptide chain in independent continuant", - "upper urinary tract", - "Abnormal tubulointerstitial morphology", - "Abnormality of urine homeostasis", - "genitourinary system", - "Abnormal urine metabolite level", - "heteroorganic entity", - "organooxygen compound", - "abnormal renal system", - "carbon group molecular entity", - "renal system", - "abnormal independent continuant protein polypeptide chain level", - "Aciduria", "Abnormality of the urinary system", + "Aciduria", + "renal system phenotype", + "metal atom", + "Abnormality of the urinary system physiology", + "increased level of chemical entity in urine", + "increased urine role level", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "Abnormality of acid-base homeostasis", + "tube", + "Metabolic acidosis", + "chemical entity", + "Short stature", + "inorganic molecular entity", + "Acidosis", + "upper urinary tract phenotype", + "increased level of chemical entity", + "inorganic cation", + "alkali metal atom", + "bone element mass density phenotype", + "Abnormal blood cation concentration", + "Growth abnormality", + "anatomical entity morphology phenotype", + "Abnormal skeletal morphology", + "skeletal system phenotype", + "carbon group molecular entity", + "main group molecular entity", + "Elevated circulating alkaline phosphatase concentration", "protein polypeptide chain", + "system process phenotype", "continuant", - "anatomical entity", - "material entity", - "organic amino compound", - "Abnormal appendicular skeleton morphology", - "Abnormal respiratory system physiology", - "homeostatic process", - "organochalcogen compound", - "Abnormal homeostasis", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "vasculature", - "Abnormal long bone morphology", - "hindlimb zeugopod", - "bone of free limb or fin", - "hindlimb", - "leg", - "monoatomic ion", - "nitrogen molecular entity", - "abnormal limb morphology", - "increased level of amino acid in independent continuant", - "thoracic segment of trunk", - "skeletal system", - "blood", - "long bone", - "phosphate ion homeostasis", - "abdominal segment element", - "Glycosuria", - "Abnormal bone ossification", - "Non-small cell lung carcinoma", - "skeletal joint", - "abnormal limb bone morphology", - "zone of bone organ", - "appendicular skeleton", - "limb endochondral element", - "limb skeleton subdivision", - "curved anatomical entity", - "zone of long bone", - "Hyperchloremic metabolic acidosis", - "abnormality of cardiovascular system physiology", - "limb", - "Elevated urinary carboxylic acid", - "skeleton", - "Neoplasm by anatomical site", - "p-block molecular entity", - "Hypophosphatemia", - "articular system", - "endochondral bone", - "subdivision of skeleton", - "Bowing of the long bones", - "anatomical structure", - "anatomical conduit", - "shape anatomical entity in independent continuant", - "appendage girdle complex", - "abnormal hindlimb zeugopod morphology", - "organism subdivision", - "respiratory tract", - "epithelium", - "system", - "subdivision of tube", - "Abnormality of the knee", - "paired limb/fin segment", - "blood vessel", - "multi-limb segment region", - "kidney", - "articulation", - "endochondral element", - "carboxamide", - "pelvic complex", - "Abnormality of limbs", - "curvature anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "bone element", - "paired limb/fin", - "vessel", - "diaphysis", - "abnormal leg", - "abnormal renal system morphology", - "abnormal hindlimb joint", - "non-functional anatomical entity", - "thoracic segment organ", - "abnormal independent continuant glucose level", - "abnormal hindlimb zeugopod, curved", - "abnormal anatomical entity morphology in the pelvic complex", - "phenotype", - "Stage 5 chronic kidney disease", + "amino acid chain", + "anatomical system physiology phenotype", + "tissue", + "nephron", + "skeletal element", + "cavitated compound organ", "mesoderm-derived structure", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal anatomical entity, curved", - "abnormal anatomical entity morphology in the independent continuant", - "increased level of protein polypeptide chain in urine", - "Abnormal joint morphology", - "limb segment", - "organ part", - "abnormal blood phosphate level", - "multicellular organismal process", - "curved anatomical entity in independent continuant", - "Abnormality of the lower limb", - "abnormal appendicular skeleton morphology", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "abnormal upper urinary tract", - "musculoskeletal system", - "curvature anatomical entity", - "abnormal skeletal system", - "Phenotypic abnormality", - "phenotype by ontology source", - "Abnormal urine carboxylic acid level", - "abnormal phosphate level", - "decreased level of chemical entity", - "hindlimb joint", - "oxoacid derivative", - "trunk", - "organonitrogen compound", - "appendage", - "tube", - "Abnormality of acid-base homeostasis", - "Metabolic acidosis", + "Abnormal urinary electrolyte concentration", + "muscle organ phenotype", + "anatomical structure", "polypeptide", "Abnormality of bone mineral density", - "abnormal limb", + "anatomical conduit", + "Abnormal muscle physiology", + "organochalcogen compound", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "oxygen molecular entity", + "urine chemical entity level phenotype", + "Abnormality of the musculoskeletal system", + "musculature of body", + "Abnormal bone structure", + "anatomical system", + "role urine level phenotype", + "muscle structure", "material anatomical entity", - "skeleton of limb", - "Abnormal pulmonary interstitial morphology", - "nephron", - "curved long bone", - "occurrent", - "organ", - "posterior region of body", - "multicellular anatomical structure", - "subdivision of organism along appendicular axis", - "anatomical collection", - "All", - "abnormal lung morphology", - "aldohexose", - "zone of organ", - "abnormal long bone morphology", - "Abnormality of the calf", - "skeletal element", - "zeugopod", - "chemical homeostasis", - "Genu valgum", - "limb joint", - "limb bone", - "Renal fibrosis", - "abnormal hindlimb morphology", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", - "amide", - "Abnormality of limb bone", - "Abnormal respiratory system morphology", - "shape anatomical entity", - "abnormal knee morphology", - "lower limb segment", - "abnormal skeletal joint morphology", - "curved hindlimb zeugopod", - "Organic aciduria", - "Abnormal diaphysis morphology", - "Abnormal DLCO", - "increased level of organic molecular entity in independent continuant", - "abnormal limb bone", - "shape long bone", - "lung fibrosis", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "subdivision of skeletal system", "entity", - "abnormal diaphysis morphology", - "lateral structure", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal knee morphology", - "Hyperchloremic acidosis", - "Abnormal bone structure", - "Abnormal renal physiology", - "chalcogen molecular entity", - "abnormal knee", - "abnormal anatomical entity mass density", - "decreased level of chemical entity in blood", - "shape hindlimb zeugopod", - "abnormal anatomical entity", - "abnormal shape of continuant", - "independent continuant", - "epithelial tube", - "respiratory system", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "abnormality of respiratory system physiology", - "polyatomic entity", - "abnormality of anatomical entity physiology", - "abnormal respiratory system", - "Abnormality of the respiratory system", - "Abnormality of the urinary system physiology", - "abnormal blood monoatomic ion level", - "respiration organ", - "increased bodily fluid acid level", - "anatomical entity fibrosis", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "phosphorus oxoacid derivative", - "decreased level of phosphate in blood", - "primary amide", - "elemental molecular entity", - "organism substance", - "decreased level of chemical entity in independent continuant", - "Abnormal cardiovascular system physiology", - "Abnormal blood ion concentration", + "metabolic process", "Decreased anatomical entity mass density", - "inorganic ion homeostasis", + "taxon specific phenotype", + "Abnormal blood ion concentration", + "multicellular organismal process phenotype", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "main group element atom", + "Abnormal renal tubular resorption", + "renal/urinary system phenotype", + "anatomical entity", + "p-block molecular entity", + "biomacromolecule", + "Hypokalemia", + "anatomical structure phenotype", + "Abnormality of the genitourinary system", "Reduced bone mineral density", - "pnictogen molecular entity", - "abnormal chemical homeostasis", + "renal tubule phenotype", + "nephron tubule phenotype", + "Abnormality of the skeletal system", + "Impaired renal tubular reabsorption of phosphate", + "hematopoietic system", + "multicellular organism", + "abdominal segment element physiology phenotype", + "protein-containing molecular entity", + "tissue phenotype", + "Aminoaciduria", + "organ system subdivision", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", "process", - "abnormal role independent continuant level", + "bone element", + "mesoderm-derived structure phenotype", + "Lacticaciduria", + "multicellular anatomical structure phenotype", + "anatomical entity physiology phenotype", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "skeletal system", + "lateral structure physiology phenotype", + "Abnormality of metabolism/homeostasis", + "decreased size of the anatomical entity", + "blood", + "heteroorganic entity", + "multicellular organismal process", + "Muscle weakness", + "organ part", + "multicellular anatomical structure", + "specifically dependent continuant", + "organ", + "occurrent", + "All", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "anatomical entity height phenotype", + "atom", "carbohydrate", "biological_process", - "increased bodily fluid role level", - "phosphate", - "abnormal multicellular organism chemical entity level", - "circulatory system", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "abnormal respiratory system morphology", - "viscus", - "appendicular skeletal system", - "abnormal chemical entity level", - "abnormal blood chemical entity level", - "monoatomic entity", - "abnormal acid independent continuant level", - "abnormal nephron morphology", - "Rickets", - "multi organ part structure", - "hemolymphoid system", - "abnormal bone element mass density", - "abnormal role bodily fluid level", - "abnormal biological_process", - "chemical entity", - "increased independent continuant acid level", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "metabolic process", + "renal tubule", + "nitrogen molecular entity", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", + "epithelial tube physiology phenotype", + "potassium atom", + "musculoskeletal system", + "hydrogen molecular entity", + "nephron tubule", + "anatomical entity phenotype", + "organonitrogen compound", + "independent continuant", + "skeletal element phenotype", + "organ phenotype", "bodily fluid", - "ion", - "phosphorus molecular entity", - "paired limb/fin skeleton", - "heteroatomic molecular entity", + "material anatomical entity phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "excretory tube phenotype", + "upper urinary tract", + "Abnormality of urine homeostasis", + "decreased functionality of the kidney epithelium", + "Phenotypic abnormality", + "Hyperphosphaturia", + "homeostatic process phenotype", + "trunk region element physiology phenotype", + "material anatomical entity physiology phenotype", + "urine phosphate level phenotype", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "information biomacromolecule", + "decreased size of the material anatomical entity", + "abdominal segment element phenotype", + "biological_process phenotype", "organic acid", - "abnormal hindlimb zeugopod", "ossification", "Abnormal circulating metabolite concentration", - "abnormal kidney morphology", + "size of anatomical entity phenotype", + "phenotypic effect", + "organ physiology phenotype", "main body axis", - "Neoplasm of the lung", - "abnormality of renal system physiology", + "organism substance", + "Rickets", + "hemolymphoid system", + "Abnormal urine pH", + "bone element phenotype", + "decreased functionality of the epithelial tube", + "haemolymphatic fluid", + "phosphate", + "primary amide", + "elemental molecular entity", + "ion", + "increased level of rac-lactic acid in urine", + "blood chemical entity level phenotype", + "blood potassium atom level phenotype", + "hematopoietic system phenotype", "quality", "phosphoric acid derivative", - "abnormality of kidney physiology", - "main group molecular entity", - "haemolymphatic fluid", - "Abnormality of lower limb joint", - "anatomical system", - "Abnormal lung morphology", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "Abnormal urine protein level", - "increased level of glucose in urine", - "Decreased DLCO", - "body proper", - "trunk region element", - "subdivision of organism along main body axis", - "Bowing of the legs", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "lung", - "lower respiratory tract", - "pelvic appendage", - "endoderm-derived structure", - "pair of lungs", - "kidney epithelium", - "phosphorus oxoacids and derivatives", + "Abnormal urine carboxylic acid level", + "system process", + "decreased level of chemical entity", + "decreased level of chemical entity in blood", + "genitourinary system phenotype", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "phosphorus molecular entity", + "tissue physiology phenotype", + "trunk", + "Proteinuria", + "protein-containing material entity", + "phosphate level phenotype", + "blood cation level phenotype", + "blood monoatomic ion level phenotype", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "monoatomic entity", + "subdivision of trunk", + "decreased functionality of the nephron tubule", + "chalcogen molecular entity", + "Abnormal renal physiology", + "kidney physiology phenotype", + "organ system subdivision phenotype", + "epithelium phenotype", + "lateral structure", + "decreased functionality of the excretory tube", + "abdomen element", + "epithelium physiology phenotype", + "decreased functionality of the material anatomical entity", + "epithelium", + "decreased functionality of the tube", + "Abnormality of the upper urinary tract", + "tube physiology phenotype", + "cavitated compound organ phenotype", + "Renal tubular dysfunction", + "decreased functionality of the renal tubule", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", + "homeostatic process", + "excretory tube physiology phenotype", + "decreased functionality of the tissue", "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", "compound organ", - "respiratory airway", - "hematopoietic system", - "multicellular organism", - "thoracic cavity element", - "Abnormality on pulmonary function testing", - "abnormal homeostatic process", - "proximo-distal subdivision of respiratory tract", - "knee", - "Hypophosphatemic rickets", - "Decreased bone element mass density", - "increased level of chemical entity in bodily fluid", - "abnormal acid bodily fluid level", - "increased level of chemical entity", - "Acidosis", - "increased level of chemical entity in independent continuant", - "increased independent continuant role level", + "abdominal segment of trunk", + "abdomen", + "increased level of amino acid in urine", + "compound organ phenotype", + "decreased functionality of the anatomical conduit", + "trunk region element phenotype", + "decreased functionality of the anatomical structure", + "Abnormality of the kidney", + "excretory tube", + "decreased functionality of the multicellular anatomical structure", + "uriniferous tubule", + "epithelial tube phenotype", + "renal system process phenotype", + "anatomical entity dysfunction in independent continuant", + "nephron epithelium phenotype", + "decreased functionality of the epithelium", + "decreased functionality of the nephron epithelium", + "kidney", + "oxoacid derivative", + "compound organ physiology phenotype", + "increased level of phosphate in urine", + "anatomical conduit phenotype", + "blood monovalent inorganic cation level phenotype", + "s-block element atom", + "musculature", + "decreased role blood level", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "role blood level phenotype", + "monovalent inorganic cation", ], }, + { + "id": "MONDO:0100238", + "category": "biolink:Disease", + "name": "inherited Fanconi renotubular syndrome", + "description": "An instance of Fanconi renotubular syndrome that is inherited.", + "provided_by": "phenio_nodes", + "xref": ["OMIMPS:134600"], + "synonym": ["hereditary Fanconi renotubular syndrome"], + "namespace": "MONDO", + "has_phenotype_count": 0, + }, { "id": "HP:0001994", "category": "biolink:PhenotypicFeature", "name": "Renal Fanconi syndrome", - "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], "provided_by": "phenio_nodes", - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], "namespace": "HP", "has_phenotype_count": 0, }, { - "id": "MONDO:0010953", + "id": "MONDO:0011584", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group E", - "xref": ["DOID:0111084", "GARD:15324", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], + "name": "Fanconi anemia complementation group D1", + "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.", "provided_by": "phenio_nodes", - "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", + "xref": [ + "DOID:0111089", + "GARD:17449", + "MEDGEN:325420", + "MESH:C563980", + "NCIT:C125705", + "OMIM:605724", + "Orphanet:319462", + "SCTID:766707003", + "UMLS:C1838457", + ], "synonym": [ - "FANCE", - "FANCE Fanconi anaemia", - "FANCE Fanconi anemia", - "Fanconi Anemia, complementation group type E", - "Fanconi anaemia caused by mutation in FANCE", - "Fanconi anaemia complementation group type E", - "Fanconi anemia caused by mutation in FANCE", - "Fanconi anemia complementation group E", - "Fanconi anemia complementation group type E", - "Fanconi anemia, complementation group E", - "face", + "FAD1", + "FANCD1", + "Fad1", + "Fanconi anemia complementation group D1", + "Fanconi anemia, complementation group D1", + "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", - "HP:0001875", - "HP:0009777", - "HP:0001249", "HP:0000252", - "HP:0001627", - "HP:0000957", - "HP:0000815", - "HP:0000104", - "HP:0001017", - "HP:0001876", - "HP:0000028", - "HP:0003974", - "HP:0001873", + "HP:0004808", "HP:0009778", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0001263", + "HP:0005528", + "HP:0001511", + "HP:0000957", "HP:0003221", - "HP:0009943", - "HP:0000978", - "HP:0000953", - "HP:0001903", - "HP:0001909", - "HP:0000081", + "HP:0001508", "HP:0004322", - "HP:0000486", - "HP:0000365", - "HP:0003214", - "HP:0003213", - "HP:0000085", + "HP:0006727", + "HP:0002023", ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", - "Thrombocytopenia", + "Acute myeloid leukemia", "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Global developmental delay", + "Bone marrow hypocellularity", + "Intrauterine growth retardation", + "Cafe-au-lait spot", "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Hyperpigmentation of the skin", - "Anemia", - "Leukemia", - "Duplicated collecting system", + "Failure to thrive", "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney", + "T-cell acute lymphoblastic leukemias", + "Anal atresia", ], - "has_phenotype_count": 32, + "has_phenotype_count": 11, "has_phenotype_closure": [ - "HP:0000085", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", - "UPHENO:0041629", - "GO:0051716", - "GO:0006950", - "HP:0003213", - "UPHENO:0051124", - "HP:0003254", - "UPHENO:0049964", - "GO:0007049", - "GO:0051319", - "UPHENO:0050625", - 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"UPHENO:0076739", - "UPHENO:0025100", - "UBERON:0003607", - "UPHENO:0088318", - "HP:0000135", - "UPHENO:0085194", - "UPHENO:0080114", - "UPHENO:0005433", - "HP:0001155", - "UBERON:0015001", - "HP:0010974", - "UPHENO:0085070", - "CL:0000019", - "UPHENO:0076805", - "UPHENO:0085189", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0040195", - "HP:0000086", - "CL:0000766", - "HP:0002715", - "HP:0011297", - "HP:0003214", - "UPHENO:0085118", - "UBERON:0002113", - "UPHENO:0012274", - "UPHENO:0087006", - "UPHENO:0085144", - "HP:0100543", - "UPHENO:0050108", - "UBERON:0034923", - "UBERON:0004054", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0049985", - "UBERON:0001440", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0049587", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0004708", "UBERON:0010538", - "GO:0003008", - "UPHENO:0002832", - "HP:0032251", - "GO:0032502", - "UBERON:0004121", - "HP:0000924", - "HP:0005561", - "HP:0011893", - "HP:0010987", - "UBERON:0002091", - "UPHENO:0020584", - "UPHENO:0035025", - "UBERON:0000479", - "HP:0007364", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0004523", - "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "GO:0008150", - "UPHENO:0020888", - "HP:0000234", - "UPHENO:0085873", - "UBERON:0007811", - "UPHENO:0088338", - "UPHENO:0050101", - "GO:0007283", - "CL:0000408", - "UPHENO:0075195", - "HP:0009121", - "NCBITaxon:1", - "UBERON:0001017", - "UPHENO:0054970", - "UPHENO:0076791", - "UPHENO:0086589", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "HP:0000032", - "UBERON:0000475", - "UPHENO:0076702", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0001890", - "UPHENO:0080200", + "UBERON:0010712", + "UBERON:0010708", + "UBERON:0012139", + "GO:0031326", "UBERON:0002090", - "GO:0048232", - "UPHENO:0087907", - "HP:0006501", - "UBERON:5102544", - "UPHENO:0080377", - "UBERON:0011137", - "UBERON:0000489", + "UPHENO:0002526", + "HP:0040064", + "HP:0001167", + "UPHENO:0063577", + "UPHENO:0002708", + "UPHENO:0063558", + "HP:0011017", + "UPHENO:0002976", + "UBERON:0012141", + "UPHENO:0002782", + "UPHENO:0002600", + "UPHENO:0002833", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0003129", + "UBERON:0015061", + "UPHENO:0001003", + "UBERON:0006717", + "UPHENO:0052778", + "HP:0011927", + "UPHENO:0012274", + "UPHENO:0053208", + "UBERON:0002102", + "UPHENO:0002632", + "UBERON:0004111", + "UBERON:0005451", + "UBERON:0012140", + "UBERON:0002398", + "UPHENO:0003069", + "UPHENO:0002648", + "UPHENO:0002746", + "UPHENO:0069605", + "UPHENO:0087006", + "CL:0000738", + "UBERON:0005881", + "UBERON:5002544", + "UPHENO:0069327", "UBERON:0010323", - "UBERON:0000033", - "HP:0000252", - "UPHENO:0075220", - "UBERON:0015025", - "HP:0012758", - "HP:0002011", "UPHENO:0046707", - "UPHENO:0074575", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "UBERON:0001032", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0002616", - "HP:0012443", - "HP:0001626", - "UBERON:0000948", - "BFO:0000001", - "UPHENO:0002635", - "UBERON:0000915", - "UBERON:0005181", - "UPHENO:0080362", - "NCBITaxon:6072", - "UPHENO:0076776", - "UBERON:0001009", - "HP:0030680", - "UPHENO:0005016", - "UBERON:0007100", - "UBERON:0003460", - "HP:0012733", - "UPHENO:0026023", - "HP:0001034", - "HP:0004275", - "UBERON:0010314", - "HP:0001873", - "UPHENO:0080221", - "HP:0001574", - "UBERON:0002416", - "UPHENO:0082682", - "UBERON:0000481", - "HP:0000957", - "HP:0009823", - "UPHENO:0080662", - "UBERON:0002417", - "UPHENO:0074572", - "UBERON:0002102", - "UPHENO:0003811", - "HP:0033127", - "HP:0007400", - "UPHENO:0074589", - "RO:0002577", - "HP:0000951", - "UPHENO:0085076", - "GO:0043473", - "HP:0000002", - "UPHENO:0076740", - "HP:0000953", + "UPHENO:0002559", + "HP:0006727", + "UPHENO:0069062", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "UBERON:0001434", + "HP:0006496", + "HP:0009778", + "UPHENO:0002830", + "UPHENO:0003799", + "UPHENO:0084448", "UBERON:0004710", - "UPHENO:0088162", - "GO:0050794", - "UPHENO:0085875", - "HP:0011121", - "HP:0001903", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0046483", + "UPHENO:0063594", + "HP:0009601", + "HP:0005927", + "UBERON:0004381", + "UPHENO:0004476", + "UBERON:0007272", + "UPHENO:0054957", "UPHENO:0004459", - "UPHENO:0003116", - "UPHENO:0003055", - "HP:0001876", - "HP:0000118", - "UPHENO:0024906", - "HP:0000078", - "HP:0011028", - "UBERON:0010712", - "HP:0000080", - "UPHENO:0066972", - "UBERON:0000990", - "UPHENO:0003020", - "UBERON:0005944", - "UBERON:0000991", - "HP:0008373", - "UPHENO:0080126", - "UBERON:0015204", - "HP:0000818", - "UBERON:0005156", - "UPHENO:0082875", - "HP:0011355", - "HP:0000104", - "UPHENO:0008593", - "UPHENO:0026980", - "GO:1901360", - "HP:0000980", - "UBERON:0000061", - "UPHENO:0025211", - "HP:0025461", - "UPHENO:0009399", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "UPHENO:0087089", - "CL:0000764", - "UBERON:0001474", - "CL:0000329", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", - "UPHENO:0086045", - "HP:0011875", - "UPHENO:0085042", - "HP:0012145", - "UPHENO:0087355", - "CL:0000457", - "UPHENO:0087339", - "CL:0000458", - "UBERON:0001690", - "UBERON:0015410", - "UPHENO:0086173", - "CL:0000151", - "UPHENO:0081755", - "UBERON:0002471", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0084761", - "HP:0001872", - "UBERON:0011584", - "UPHENO:0084987", - "UPHENO:0052231", - "HP:0000028", - "HP:0001510", - "UPHENO:0086023", - "HP:0004742", - "UBERON:0003620", - "HP:0012130", - "CL:0000300", - "UPHENO:0005597", - "CL:0000586", - "HP:0001627", - "UPHENO:0049970", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "GO:0003006", - "HP:0001000", - "UPHENO:0080382", - "UPHENO:0085356", - "GO:0019953", - "GO:0000003", - "HP:0001249", - "UBERON:0001968", - "GO:0048609", - "HP:0003953", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0041821", - "HP:0009825", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0015228", - "CL:0000015", - "HP:0008669", - "HP:0000811", - "UPHENO:0086201", - "UPHENO:0053298", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0076941", - "UPHENO:0002764", - "UPHENO:0002597", - "CL:0000413", - "CL:0000039", - "UBERON:0011216", - "UBERON:0004175", - "UBERON:0004176", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0081511", - "UPHENO:0086635", - "HP:0000240", - "HP:0000812", - "UBERON:0015021", - "UBERON:0002386", - "UPHENO:0086198", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", - "UPHENO:0079826", - "UBERON:0004122", - "UPHENO:0002595", - "UBERON:0015063", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0078452", - "HP:0005918", - "HP:0012243", - "UBERON:0013702", - "UPHENO:0080187", - "UBERON:0000955", - "UBERON:0010703", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0010912", - "CL:0000094", - "HP:0040072", - "UPHENO:0079872", - "UPHENO:0009341", - "UBERON:0001423", - "UPHENO:0086956", - "HP:0040070", - "UBERON:0002405", - "UPHENO:0021561", - "UBERON:0003606", - "UPHENO:0005651", - "UPHENO:0076718", - "UBERON:0002104", - "HP:0006503", - "HP:0009142", - "UBERON:0004535", - "UPHENO:0002751", - "UBERON:0002495", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "UBERON:0010741", - "UPHENO:0069254", - "UBERON:0000949", - "UBERON:0003466", - "UPHENO:0012541", - "HP:0004325", - "UPHENO:0031839", - "UPHENO:0046411", - "UBERON:0004381", - "UPHENO:0011498", - "UPHENO:0046624", - "UPHENO:0008668", - "UPHENO:0068971", + "UBERON:0002428", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0046426", ], "has_phenotype_closure_label": [ - "Horseshoe kidney", - "shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", - "abnormal response to stress", - "DNA repair", - "response to stress", - "abnormal cellular response to stress", - "abnormal DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Abnormality of the cell cycle", - "G2 phase", - "cell cycle phase", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", - "ear", - "abnormal ear", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "anatomical line", - "body part movement", - "immaterial anatomical entity", - "behavior", - "concave 3-D shape anatomical entity", - "Abnormality of eye movement", - "response to stimulus", - "eye movement", - "abnormal eye movement", - "Strabismus", - "behavior process", - "abnormal response to stimulus", - "Abnormality of body height", + "anus", + "closing of the multicellular anatomical structure", + "multicellular anatomical structure atresia", + "digestive tract", + "anatomical conduit atresia", + "anus morphology phenotype", + "Abnormal anus morphology", + "Anal atresia", + "anus atresia", + "tube", + "orifice", + "orifice phenotype", + "Abnormal digestive system morphology", + "closing of the anatomical entity", + "digestive system morphology phenotype", + "T-cell acute lymphoblastic leukemias", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "delayed biological_process", - "abnormal DNA damage response", - "delayed growth", - "abnormal size of multicellular organism", - "Neoplasm", - "Hematological neoplasm", - "vasculature", - "Abnormality of the vasculature", - "blood circulation", - "Bruising susceptibility", - "Subcutaneous hemorrhage", - "abnormality of cardiovascular system physiology", - "Generalized abnormality of skin", - "Internal hemorrhage", - "Abnormality of blood circulation", - "Vascular skin abnormality", - "vascular system", - "Abnormal bleeding", - "abnormal anatomical entity morphology in the skeleton of manus", - "manual digit bone", - "Duplication of bones involving the upper extremities", - "phalanx endochondral element", - "manual digit phalanx endochondral element", - "Duplication of phalanx of hand", - "abnormal phalanx morphology", - "acropodial skeleton", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", - "phalanx", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "digitopodium bone", - "skeleton of manual acropodium", - "manual digitopodium bone", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", + "decreased height of the anatomical entity", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased qualitatively growth", + "multicellular organism mass phenotype", + "multicellular anatomical structure mass phenotype", + "closing of the anatomical structure", + "material anatomical entity mass phenotype", + "anatomical entity mass phenotype", + "multicellular organism phenotype", + "Abnormality of body weight", + "anatomical structure mass phenotype", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", "regulation of biosynthetic process", - "individual digit of digitopodial skeleton", - "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "Abnormality of DNA repair", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", + "metabolic process", + "biological regulation", + "regulation of cellular biosynthetic process", + "negative regulation of cellular metabolic process", "Chromosome breakage", - "decreased height of the anatomical entity", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "Duplicated collecting system", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of metabolic process phenotype", + "regulation of cellular metabolic process phenotype", "Abnormality of metabolism/homeostasis", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "cellular response to stimulus", - "Chromosomal breakage induced by crosslinking agents", - "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormal growth", - "decreased anatomical entity mass", - "abnormal cell cycle", - "Duplication of thumb phalanx", - "abnormality of anatomical entity mass", - "sensory system", - "decreased size of the eyeball of camera-type eye", - "simple eye", - "eyeball of camera-type eye", - "camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "abnormal camera-type eye morphology", - "Abnormality of the eye", - "abnormal face", - "orbital region", - "abnormal eyeball of camera-type eye", - "abnormal size of eyeball of camera-type eye", - "visual system", - "Abnormality of the orbital region", - "Abnormality of the face", - "sense organ", - "Microphthalmia", - "abnormal enucleated reticulocyte morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Non-obstructive azoospermia", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "system process", - "Duplication of hand bones", - "abnormal nitrogen compound metabolic process", - "nervous system process", - "axial skeleton plus cranial skeleton", - "Abnormal appendicular skeleton morphology", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "acropodium region", - "Intellectual disability", - "bone marrow", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "segment of manus", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal immune system morphology", - "genitourinary system", - "decreased qualitatively reproductive process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "paired limb/fin skeleton", - "arm", - "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "Abnormal finger phalanx morphology", + "closing of the material anatomical entity", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "negative regulation of biological process", + "obsolete cell", + "programmed DNA elimination", + "regulation of cellular biosynthetic process phenotype", + "Abnormal skin morphology", + "increased biological_process", + "increased pigmentation in skin of body", + "Irregular hyperpigmentation", + "skin of body phenotype", "pigmentation", - "bone of appendage girdle complex", - "abnormal limb morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "entity", - "Metazoa", - "Abnormal hand morphology", + "Hypermelanotic macule", + "skin of body morphology phenotype", + "Cafe-au-lait spot", + "increased biological_process in skin of body", + "increased pigmentation", + "integumental system", + "skin of body", + "Macule", + "Abnormality of the integument", + "decreased embryo development", + "negative regulation of biosynthetic process", + "decreased qualitatively multicellular organismal process", + "closing of the anatomical conduit", + "decreased qualitatively biological_process", + "process", + "developmental process rate phenotype", + "anatomical structure development phenotype", + "biological_process", + "developmental process", + "multicellular organismal process", + "Acute lymphoblastic leukemia", + "growth", + "decreased multicellular organismal process", + "growth phenotype", + "biological_process rate phenotype", + "decreased qualitatively multicellular organism development", + "regulation of cellular process phenotype", + "anatomical structure development", + "decreased anatomical structure development", + "decreased qualitatively anatomical structure development", + "decreased qualitatively embryo development", + "delayed growth", + "embryo development rate phenotype", + "embryo development", + "delayed biological_process", + "Abnormality of multiple cell lineages in the bone marrow", + "tissue", + "digestive system phenotype", + "negative regulation of macromolecule metabolic process", + "Abnormal bone marrow cell morphology", + "Aplasia/hypoplasia involving the skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal limb bone morphology", + "Abnormal finger morphology", + "organ phenotype", + "endochondral bone phenotype", + "skeletal element phenotype", + "decreased size of the manual digit", + "bone of appendage girdle complex phenotype", + "decreased length of digit 1", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the anatomical structure", + "limb bone phenotype", + "bone element phenotype", + "regulation of gene expression", + "autopod region morphology phenotype", "Localized skin lesion", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal autopod region morphology", - "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "cell", - "absent anatomical entity in the renal system", - "skeleton", - "male gamete generation", - "absent anatomical entity", - "Abnormal digit morphology", + "Abnormal hand morphology", + "digit plus metapodial segment", + "autopodial extension", + "Abnormality of limbs", + "decreased anatomical structure mass", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased length of digit", + "skeleton of pectoral complex", "appendicular skeletal system", - "multi-limb segment region", + "paired limb/fin segment", + "Opisthokonta", + "Abnormality of skin pigmentation", + "skeleton of limb", + "myeloblast", + "anatomical entity morphology in the pectoral complex phenotype", + "granulocytopoietic cell", + "eukaryotic cell", + "independent continuant", + "anatomical entity morphology in the manus phenotype", + "negative regulation of gene expression phenotype", + "multicellular organism development", + "segment of autopod", + "hemolymphoid system", + "central nervous system", + "multi-tissue structure phenotype", + "Decreased multicellular organism mass", + "Abnormal brain morphology", + "cellular organisms", + "skull morphology phenotype", + "Abnormal skull morphology", + "Abnormality of head or neck", + "decreased length of digit 1 or 5", + "regional part of nervous system", + "forebrain", + "appendage phenotype", + "brain", + "aplasia or hypoplasia of manual digit 1", + "bone marrow cell", + "system", + "manus phenotype", + "craniocervical region phenotype", + "main body axis", + "organism subdivision phenotype", "endochondral element", + "nervous system", + "anatomical entity atresia", + "decreased length of material anatomical entity", + "nucleate cell", + "Decreased anatomical entity mass", + "manual digitopodium region", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "anatomical entity", + "skull phenotype", + "mesoderm-derived structure phenotype", "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", - "agenesis of anatomical entity", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal cellular metabolic process", + "negative regulation of gene expression", + "Phenotypic abnormality", + "anus phenotype", + "material entity", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "organism subdivision", + "regional part of brain phenotype", + "limb segment phenotype", + "telencephalon", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "Abnormal axial skeleton morphology", + "ectoderm-derived structure phenotype", + "hematopoietic system phenotype", + "anterior region of body", + "appendicular skeleton", + "upper limb segment", + "decreased multicellular organism development", + "regional part of nervous system phenotype", + "regulation of macromolecule metabolic process phenotype", + "Bone marrow hypocellularity", + "skeletal element", + "Aplasia/Hypoplasia involving the central nervous system", + "decreased size of the organism subdivision", + "negative regulation of metabolic process", + "musculature phenotype", + "Abnormal nervous system morphology", + "anatomical system phenotype", + "decreased size of the digit", + "autopodial extension phenotype", + "Chromosomal breakage induced by crosslinking agents", + "forebrain morphology phenotype", + "regulation of cellular process", + "craniofacial/craniocervical phenotype", + "appendage", + "anatomical entity phenotype", + "root", + "immune system", + "myeloid cell", + "quality", "musculoskeletal system", - "abnormal upper urinary tract", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", + "Abnormal cell morphology", + "phenotype", + "head morphology phenotype", + "Abnormality of the anus", + "organ system subdivision", + "anatomical conduit phenotype", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", + "Metazoa", + "multi-tissue structure", + "decreased multicellular anatomical structure mass", "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "abnormal digit morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of manus", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "negative regulation of cellular process", - "abnormal limb", + "All", + "anatomical collection", + "nervous system phenotype", + "Abnormality of the immune system", + "Abnormal cerebral morphology", + "specifically dependent continuant", + "Abnormal forebrain morphology", + "multi-limb segment region phenotype", + "anatomical conduit", + "Abnormality of the head", + "Decreased head circumference", + "biological regulation phenotype", + "Abnormality of skull size", + "pectoral complex", + "homeostatic process phenotype", + "brain morphology phenotype", + "anatomical entity length phenotype", + "aplasia or hypoplasia of anatomical entity", + "decreased growth", + "disconnected anatomical group", + "material anatomical entity atresia", + "regulation of gene expression phenotype", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of biological process phenotype", + "subdivision of skeletal system", + "Leukemia", + "entity", + "continuant", + "multicellular anatomical structure", + "neoplasm phenotype", + "telencephalon phenotype", + "progenitor cell", + "size of anatomical entity phenotype", + "phenotypic effect", + "pectoral appendage skeleton", + "regional part of brain", + "musculature", + "anatomical structure", + "Hyperpigmentation of the skin", + "digit", + "limb endochondral element phenotype", + "Decreased body weight", + "decreased qualitatively developmental process", + "postcranial axial skeleton", + "material anatomical entity", + "structure with developmental contribution from neural crest phenotype", + "bone of appendage girdle complex", + "regulation of biological process", + "hematopoietic lineage restricted progenitor cell", + "nervous system morphology phenotype", + "digit 1 phenotype", + "decreased size of the multicellular organism", + "myeloid lineage restricted progenitor cell", + "telencephalon morphology phenotype", + "ectoderm-derived structure atresia", + "immune system morphology phenotype", + "decreased material anatomical entity mass", + "subdivision of organism along main body axis", + "integument phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", - "skeletal system", + "decreased developmental process", + "central nervous system morphology phenotype", + "axial skeletal system", "motile cell", - "aplastic anatomical entity", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "abnormally decreased number of myeloid cell", - "face", - "aplasia or hypoplasia of manual digit", - "Neurodevelopmental abnormality", + "skeletal system", + "multicellular anatomical structure phenotype", + "multicellular organism height phenotype", + "cranial skeletal system", + "limb morphology phenotype", + "decreased length of manual digit", + "Eumetazoa", + "Eukaryota", + "Abnormality of the musculoskeletal system", + "subdivision of skeletal system phenotype", + "digit 1 or 5", + "programmed DNA elimination by chromosome breakage", + "Growth abnormality", + "size of skull phenotype", + "anatomical entity morphology phenotype", + "multicellular organism development phenotype", "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "regulation of metabolic process", - "Decreased body weight", - "manual digit 1", - "autopodial extension", - "digit plus metapodial segment", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", - "excretory system", - "bone marrow cell", - "circulatory system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "abnormal myeloid cell morphology", - "increased biological_process", - "sexual reproduction", - "Macule", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "quality", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abdomen element", + "musculature of body", + "body proper", + "pectoral appendage", + "regulation of biosynthetic process phenotype", + "subdivision of organism along main body axis phenotype", + "taxon specific phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Morphological central nervous system abnormality", + "digestive system", + "Abnormal leukocyte morphology", + "precursor cell", + "manual digit 1 plus metapodial segment", + "skeletal system phenotype", + "Abnormality of the skin", + "organ system subdivision phenotype", + "craniocervical region", + "aplasia or hypoplasia of telencephalon", + "Growth delay", + "decreased length of multicellular anatomical structure", + "bone of free limb or fin phenotype", + "anatomical structure phenotype", "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "DNA damage response", - "lateral structure", - "abnormal vasculature", - "abnormal genitourinary system", - "changed developmental process rate", - "Abnormal cerebral morphology", - "abnormal blood circulation", - "arm bone", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "abnormal hematopoietic system", - "Renal agenesis", + "craniocervical region morphology phenotype", + "aplasia or hypoplasia of skeleton", "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "nucleate cell", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "renal system", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "skeletal element", - "zeugopod", + "occurrent", + "appendicular skeleton morphology phenotype", + "organ", + "Aplasia/Hypoplasia of the cerebrum", + "multicellular organism morphology phenotype", "Abnormal cellular immune system morphology", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "regional part of nervous system", - "abdominal segment element", - "abnormal reproductive system morphology", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "hemolymphoid system", - "biological_process", - "myeloid leukocyte", - "entire sense organ system", - "absent radius bone in the independent continuant", - "Abnormal localization of kidney", - "biological regulation", - "Global developmental delay", - "abdominal segment of trunk", - "renal collecting system", - "Ectopic kidney", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal immune system", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", - "abnormal renal system morphology", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "absent kidney in the renal system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "reproduction", - "absent anatomical entity in the multicellular organism", - "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", - "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Aplasia/hypoplasia involving the skeleton", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "subdivision of trunk", - "absent manual digit", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "body proper", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "continuant", - "abnormality of ear physiology", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", - "cellular metabolic process", - "Abnormality of neutrophils", - "leukocyte", - "abnormal gamete generation", - "protein-containing material entity", - "gamete generation", - "abnormally decreased number of cell in the independent continuant", - "abnormal neutrophil", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "phalanx of manus", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", - "abnormal nervous system", - "paired limb/fin segment", - "abnormality of camera-type eye physiology", - "immune system", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "Absent forearm bone", - "Leukemia", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "blood cell", - "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", - "Abnormal myeloid cell morphology", - "U-shaped kidney", - "digit 1 or 5", - "skeleton of manual digitopodium", - "primary circulatory organ", - "granulocyte", - "Complete duplication of phalanx of hand", + "subdivision of organism along appendicular axis phenotype", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "manual digit plus metapodial segment", + "integument", + "leukocyte morphology phenotype", "limb bone", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", + "mesoderm-derived structure", + "non-connected functional system", + "skeletal system morphology phenotype", + "cell phenotype", "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "viscus", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "Acute leukemia", + "embryo development phenotype", + "manual digit 1 or 5", + "Neoplasm", "hematopoietic cell", - "aplastic manual digit 1", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal granulocyte morphology", - "abnormally decreased number of granulocyte", - "manual digit 1 plus metapodial segment", - "abdomen", - "neutrophil", - "Complete duplication of thumb phalanx", - "manual digit 1 phalanx", - "abnormal forelimb zeugopod bone", - "Abnormal myeloid leukocyte morphology", - "Pancytopenia", - "abnormal head", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", + "leukocyte", + "skeleton", + "immune system phenotype", + "Abnormality of blood and blood-forming tissues", + "Abnormal immune system morphology", + "digit 1", + "aplasia or hypoplasia of manual digit", "organism", - "programmed DNA elimination", - "obsolete cell", - "internal male genitalia", - "Abnormal granulocyte count", - "eye", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal hematopoietic cell morphology", - "biological phase", - "autopod bone", - "mesoderm-derived structure", - "abnormal manus", - "craniocervical region", - "abnormal forebrain morphology", - "multi-tissue structure", - "abnormal craniocervical region morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", - "Decreased head circumference", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "abnormal head morphology", - "Abnormality of the musculoskeletal system", + "autopod region", + "Abnormal cellular physiology", + "forelimb morphology phenotype", + "limb segment", + "multicellular organismal process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "decreased size of the multicellular anatomical structure", + "Short finger", + "skeleton of manus", + "Failure to thrive", + "paired limb/fin phenotype", + "autopod region phenotype", + "Abnormal appendicular skeleton morphology", + "closing of the ectoderm-derived structure", + "limb endochondral element", + "autopodial skeleton", + "lateral structure", + "Acute myeloid leukemia", + "Short digit", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "anatomical collection phenotype", + "limb bone morphology phenotype", + "manual digit", + "arm", + "material anatomical entity phenotype", + "manus morphology phenotype", + "hematopoietic system", + "multicellular organism", + "arm phenotype", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "limb phenotype", "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "spermatogenesis", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "negative regulation of cellular metabolic process", - "Eukaryota", - "kinesthetic behavior", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "manual digit 1 phalanx endochondral element", - "tissue", - "absent anatomical entity in the semen", - "limb skeleton subdivision", + "skeleton phenotype", + "paired limb/fin", + "forelimb skeleton", + "Abnormal thumb morphology", + "appendage girdle complex", + "digit phenotype", + "bone marrow", + "acropodium region", + "developmental process phenotype", + "paired limb/fin segment phenotype", + "protein-containing material entity", + "segment of manus", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", "skull", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "absent sperm in the semen", - "bone of pectoral complex", + "decreased length of organism subdivision", "decreased length of anatomical entity", - "autopod endochondral element", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "digit 1 plus metapodial segment", + "decreased length of anatomical structure", + "Hematological neoplasm", + "Abnormality of the hand", + "hematopoietic precursor cell", + "limb", + "cell", + "Abnormality of the upper limb", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal digit morphology", + "orifice atresia", + "subdivision of skeleton", + "endochondral bone", + "decreased length of autopodial extension", + "upper limb segment phenotype", + "digit morphology phenotype", + "digit 1 or 5 phenotype", + "limb skeleton subdivision", + "manual digit morphology in the manus phenotype", + "multi-limb segment region", + "pigmentation phenotype", + "manual digit phenotype", + "Intrauterine growth retardation", + "Short thumb", + "anatomical structure atresia", + "manual digit 1 morphology phenotype", + "endochondral element phenotype", + "decreased length of manual digit 1 or 5", + "head", "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb", - "Abnormal forebrain morphology", - "multicellular organismal reproductive process", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Abnormal renal morphology", - "abnormal external genitalia", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "reproductive organ", - "abnormal skull morphology", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "heart plus pericardium", - "Cryptorchidism", - "thoracic segment organ", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "circulatory organ", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Abnormality of cardiovascular system morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "integumental system", - "integument", - "absent radius bone in the forelimb", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Growth delay", - "kidney", - "abnormal biological_process", - "Abnormality of skin morphology", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Neutropenia", - "reproductive structure", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "germ line cell", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal integument", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "limb segment", - "absent sperm", - "abnormal endocrine system", - "abnormally decreased number of reticulocyte", - "Abnormality of the endocrine system", - "Abnormality of reproductive system physiology", - "gamete", - "male gamete", - "abnormally decreased functionality of the gonad", - "Abnormality of the genital system", - "glandular system", - "absent kidney", - "subdivision of skeletal system", - "abnormally decreased number of neutrophil", - "absent kidney in the independent continuant", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "manus bone", - "radius bone", - "Abnormality of the hand", - "Anemia", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal cellular process", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", - "anucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "cellular organisms", - "Abnormal neutrophil count", - "obsolete multicellular organism reproduction", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "digit 1", - "abnormal platelet morphology", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "developmental process involved in reproduction", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "abnormal testis morphology", - "forelimb zeugopod", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "germ cell", - "absent gamete", - "sperm", - "abnormal gamete", - "Reticulocytopenia", - "organism substance", - "haploid cell", - "disconnected anatomical group", - "abnormal cell", - "male reproductive organ", - "internal genitalia", - "abnormal internal genitalia", - "platelet", - "absent sperm in the independent continuant", - "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "Abnormal external genitalia", - "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "interphase", - "semen", - "Abnormal testis morphology", - "male germ cell", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "male organism", - "abnormal granulocyte morphology", - "Azoospermia", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "testis", - "external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "Aplasia involving bones of the upper limbs", - "eukaryotic cell", - "abnormal limb long bone morphology", - "absent forelimb zeugopod bone", - "forelimb zeugopod skeleton", - "abnormal size of skull", - "forelimb long bone", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", - "Pallor", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "Absent radius", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal behavior", - "radius endochondral element", - "sensory perception of mechanical stimulus", - "abnormally decreased number of anatomical entity", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormal radius bone morphology", - "aplastic forelimb zeugopod bone", - "Short finger", - "Abnormal reticulocyte morphology", - "decreased length of anatomical entity in independent continuant", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "decreased length of digit", - "skeleton of digitopodium", - "Short digit", - "reticulocyte", + "biological_process phenotype", + "decreased size of the material anatomical entity", ], }, { - "id": "MONDO:0013566", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group L", - "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], + "name": "Fanconi anemia complementation group O", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", + "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"], "synonym": [ - "FANCL", - "FANCL Fanconi anaemia", - "FANCL Fanconi anemia", - "Fanconi Anemia, complementation Group 50", - "Fanconi Anemia, complementation group type 50", - "Fanconi anaemia caused by mutation in FANCL", - "Fanconi anaemia complementation group type L", - "Fanconi anemia caused by mutation in FANCL", - "Fanconi anemia complementation group L", - "Fanconi anemia complementation group type L", - "Fanconi anemia, complementation group L", + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0007018", - "HP:0000470", - "HP:0008551", "HP:0009777", - "HP:0004590", - "HP:0002575", - "HP:0000238", - "HP:0000369", - "HP:0000465", - "HP:0000957", + "HP:0040012", + "HP:0001245", + "HP:0003774", + "HP:0002984", + "HP:0000126", + "HP:0000028", + "HP:0009778", + "HP:0009623", + "HP:0001627", + "HP:0000107", + "HP:0003241", + "HP:0004322", "HP:0002023", - "HP:0000582", - "HP:0001510", - "HP:0000316", - "HP:0001776", - "HP:0000347", - "HP:0003974", - "HP:0001511", - "HP:0009892", - "HP:0000151", - "HP:0001263", - "HP:0003221", - "HP:0002032", - "HP:0011968", - "HP:0001321", - "HP:0000175", - "HP:0000054", - "HP:0000437", - "HP:0001903", - "HP:0000122", - "HP:0002188", - "HP:0000568", - "HP:0000431", - "HP:0005528", - "HP:0000089", + "HP:0025023", ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", - "Short neck", - "Microtia", "Absent thumb", - "Hypoplastic sacrum", - "Tracheoesophageal fistula", - "Hydrocephalus", - "Low-set ears", - "Webbed neck", - "Cafe-au-lait spot", + "Chromosome breakage", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Hypoplasia of the radius", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", + "Short stature", "Anal atresia", - "Upslanted palpebral fissure", - "Growth delay", - "Hypertelorism", - "Bilateral talipes equinovarus", - "Micrognathia", - "Absent radius", - "Intrauterine growth retardation", - "Anotia", - "Aplasia of the uterus", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Esophageal atresia", - "Feeding difficulties", - "Cerebellar hypoplasia", - "Cleft palate", - "Micropenis", - "Depressed nasal tip", - "Anemia", - "Unilateral renal agenesis", - "Delayed CNS myelination", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", - "Renal hypoplasia", + "Rectal atresia", ], - "has_phenotype_count": 36, + "has_phenotype_count": 15, "has_phenotype_closure": [ - 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"GO:0006807", - "UPHENO:0002839", - "UPHENO:0062527", - "UPHENO:0086824", - "UBERON:0000161", - "UBERON:0034921", - "HP:0032039", - "HP:0000422", - "UPHENO:0086932", - "UPHENO:0086699", - "UBERON:0001819", - "UPHENO:0087472", - "UBERON:0001004", - "HP:0000315", - "HP:0000271", - "UPHENO:0002910", - "UBERON:0000970", - "UBERON:0004742", - "UPHENO:0025100", - "HP:0000492", - "UPHENO:0003058", - "UBERON:0000025", - "UBERON:0004088", - "HP:0010938", - "GO:0043170", - "HP:0008050", - "UPHENO:0076761", - "HP:0001507", - "HP:0001510", + "UPHENO:0075949", + "MPATH:0", + "MPATH:603", "UPHENO:0049874", - "UBERON:0000466", - "UPHENO:0002598", - "HP:0100886", - "UBERON:0010230", - "HP:0011400", - "HP:0012372", - "OBI:0100026", - "UPHENO:0001072", - "HP:0000478", - "UBERON:5001463", - "UPHENO:0021474", - "UPHENO:0080158", - "UPHENO:0080196", - "UPHENO:0063599", - "UBERON:0010222", - "UPHENO:0087816", - "HP:0001762", - "HP:0001776", - "UBERON:0010709", - "HP:0005656", - "UPHENO:0072195", - "HP:0002814", - "UPHENO:0050008", - "HP:0006496", - "UPHENO:0003070", - "UPHENO:0081575", - "HP:0000925", - "UBERON:0008784", - "HP:0002692", - "UBERON:0004756", + "GO:0010468", + "UPHENO:0012440", + "UPHENO:0000541", + "UPHENO:0080351", ], "has_phenotype_closure_label": [ - "decreased size of the kidney", - "Bone marrow hypocellularity", - "bone marrow", - "abnormal immune system morphology", - "bone cell", - "tissue", - "Abnormality of bone marrow cell morphology", - "abnormal immune system", - "increased width of anatomical entity", - "abnormal nasal bridge morphology", - "abnormal snout morphology", - "increased width of nasal bridge", - "increased width of the anatomical entity in independent continuant", - "snout", - "Abnormality of globe size", - "Aplasia/Hypoplasia affecting the eye", - "central nervous system myelination", - "gliogenesis", - "decreased size of the eyeball of camera-type eye", - "oligodendrocyte differentiation", - "oligodendrocyte development", - "nervous system development", - "glial cell differentiation", - "abnormal myelination in independent continuant", - "delayed central nervous system myelination", - "abnormal central nervous system myelination in independent continuant", - "abnormal biological_process in central nervous system", - "Abnormal myelination", - "abnormal hematopoietic system morphology", - "system development", - "axon ensheathment", - "abnormal axon ensheathment in central nervous system in independent continuant", - "cellular developmental process", - "abdomen element", - "Abnormality of the kidney", - "absent anatomical entity in the renal system", - "absent kidney", - "cavitated compound organ", - "excretory system", - "abnormal renal system", - "renal system", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "abnormal upper urinary tract", - "abnormal hematopoietic system", - "hematopoietic system", - "abnormal cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormal erythrocyte morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "abnormal size of eyeball of camera-type eye", - "nose tip", - "nose", - "Abnormality of the nose", - "flattened anatomical entity in independent continuant", - "olfactory organ", - "curvature anatomical entity", - "Abnormal external nose morphology", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "flat nose tip", - "external male genitalia", - "Hypoplasia of penis", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal external genitalia", - "decreased size of the external male genitalia", - "Abnormal renal morphology", - "abnormal external genitalia", - "External genital hypoplasia", - "Abnormal penis morphology", - "abnormal penis", - "male reproductive system", - "anatomical cavity", - "abnormal incomplete closing of the secondary palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal midface morphology", - "Orofacial cleft", - "abnormal roof of mouth morphology", - "Craniofacial cleft", - "Abnormal metencephalon morphology", - "Cerebellar hypoplasia", - "Eumetazoa", - "regional part of brain", - "segmental subdivision of nervous system", - "abnormal cerebellum morphology", - "hindbrain", - "external genitalia", - "cerebellum", - "metencephalon", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal metencephalon morphology", - "Abnormal midface morphology", - "regional part of nervous system", - "delayed myelination", - "abnormal hindbrain morphology", - "cerebellum hypoplasia", + "Opisthokonta", + "Anorectal anomaly", + "rectum morphology phenotype", + "Abnormal intestine morphology", + "Rectal atresia", + "closing of the organ part", + "intestine morphology phenotype", + "intestine atresia", + "anatomical system atresia", + "subdivision of digestive tract atresia", + "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype", + "rectum atresia", + "organism", + "digestive system element", + "internal anal region", + "cellular organisms", + "Abnormal gastrointestinal tract morphology", + "organ part atresia", + "intestine", + "terminal part of digestive tract", + "rectum", + "Eumetazoa", + "alimentary part of gastrointestinal system", + "alimentary part of gastrointestinal system atresia", + "anus", + "material anatomical entity atresia", + "closing of the anatomical structure", + "digestive system phenotype", + "digestive tract", + "closing of the anatomical conduit", + "anus morphology phenotype", + "Abnormality of the anus", + "Abnormal anus morphology", + "ectoderm-derived structure phenotype", + "orifice", + "anatomical entity atresia", + "anus phenotype", + "orifice phenotype", + "Abnormality of the gastrointestinal tract", + "Abnormal digestive system morphology", "root", - "Feeding difficulties", - "abnormality of digestive system physiology", - "Esophageal atresia", - "esophagus atresia", - "Chromosomal breakage induced by crosslinking agents", - "Neurodevelopmental abnormality", - "Abdominal symptom", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "Abnormality of the digestive system", + "closing of the ectoderm-derived structure", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "palmar/plantar part of autopod", + "anal region", + "muscle structure", + "large intestine", + "material anatomical entity", + "Abnormal skeletal muscle morphology", + "arm phenotype", + "thoracic cavity element", + "pectoral appendage musculature", + "musculature of upper limb", + "regulation of cellular metabolic process", + "subdivision of tube phenotype", + "musculature of limb phenotype", + "independent continuant", + "subdivision of skeletal system", + "entity", + "forelimb zeugopod bone morphology phenotype", + "autopod region morphology phenotype", + "absent organism subdivision in the multicellular organism", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "closing of the subdivision of digestive tract", + "negative regulation of biological process phenotype", + "Abnormal cellular phenotype", + "negative regulation of gene expression phenotype", + "segment of autopod", + "reproductive system", + "muscle organ", + "musculature of pectoral complex", + "kidney morphology phenotype", "Abnormal reproductive system morphology", - "abnormal kidney", - "abnormal reproductive system", - "bone marrow cell", - "internal female genitalia", - "Wide nasal bridge", - "abnormal internal female genitalia morphology", - "female organism", - "abnormal female reproductive system", - "Abnormality of the uterus", - "internal genitalia", - "aplasia or hypoplasia of eyeball of camera-type eye", - "uterus", - "abnormal uterus", - "genitourinary system", - "Abnormal morphology of female internal genitalia", - "Aplasia of the uterus", - "reproductive structure", - "abnormal reproductive system morphology", - "female reproductive system", - "aplasia or hypoplasia of uterus", - "oviduct", - "erythrocyte", - "subdivision of oviduct", - "absent anatomical entity in the head", - "absent external ear", - "Anotia", - "absent external ear in the head", - "abnormal biological_process in nervous system", - "absent anatomical entity in the ear", - "decreased embryo development", - "changed embryo development rate", - "multicellular organism development", - "abnormal genitourinary system", - "changed developmental process rate", - "decreased qualitatively developmental process", - "decreased developmental process", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Intrauterine growth retardation", - "Hypoplastic male external genitalia", - "anatomical structure development", - "abnormal embryo development", - "aplastic forelimb zeugopod bone", - "Aplasia/Hypoplasia of the radius", - "Aplasia involving bones of the extremities", - "Aplasia/Hypoplasia of the cerebellum", - "forelimb zeugopod", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", + "cell phenotype", + "programmed DNA elimination by chromosome breakage", + "cell", + "Abnormality of the upper limb", + "skeletal element", + "regulation of macromolecule biosynthetic process phenotype", + "zeugopod", + "regulation of biosynthetic process phenotype", + "compound organ", + "zeugopodial skeleton", "limb long bone", - "Aplasia/hypoplasia involving forearm bones", - "embryo development", - "abnormal radius bone morphology", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormality of the female genitalia", - "abnormal forelimb zeugopod morphology", - "arm bone", - "forelimb long bone", + "Abnormality of chromosome stability", + "negative regulation of macromolecule metabolic process phenotype", + "increased size of the renal pelvis", + "homeostatic process", + "appendage girdle complex", + "digit phenotype", + "musculature phenotype", + "Abnormal finger morphology", + "organ phenotype", + "decreased length of manual digit", + "anatomical structure phenotype", "forelimb zeugopod skeleton", - "delayed biological_process in central nervous system", - "Abnormal forearm bone morphology", - "absent forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", - "zeugopod", - "Abnormality of the genital system", - "intramembranous bone", - "Renal hypoplasia", - "mandible hypoplasia", - "bone of lower jaw", - "neural crest-derived structure", - "dentary", - "aplasia or hypoplasia of skull", - "abnormal mouth", - "primary subdivision of skull", - "abnormal hematopoietic cell morphology", - "primary subdivision of cranial skeletal system", - "Micrognathia", - "abnormal male reproductive system", - "abnormal mouth morphology", - "cranial skeletal system", - "dermal bone", - "jaw skeleton", - "facial skeleton", - "immune system", - "facial bone", - "mandible", - "Abnormal mandible morphology", - "paired limb/fin segment", - "multi-limb segment region", - "Anemia", - "radius bone", - "Abnormality of the hand", - "decreased size of the external ear", - "agenesis of anatomical entity", - "paired limb/fin", - "skeleton of lower jaw", - "abnormal digit morphology", - "Aplasia/Hypoplasia of fingers", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "cell development", - "skeleton of manus", - "Hypertelorism", - "pectoral appendage skeleton", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "negative regulation of macromolecule biosynthetic process", - "abnormal arm", - "head", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal nose", - "Aplasia/Hypoplasia of the mandible", - "aplastic anatomical entity", - "anterior region of body", - "appendage", - "subdivision of organism along appendicular axis", - "autopod region", - "digit 1", - "Hyperactivity", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "sensory system", - "ear", - "anatomical entity hypoplasia in face", - "non-connected functional system", - "manual digit", - "Abnormal eye morphology", - "abnormal head morphology", - "Abnormality of the outer ear", - "multi-tissue structure", - "bodily fluid", - "abnormal external nose morphology", - "absent radius bone in the independent continuant", - "neck bone", - "entire sense organ system", - "continuant", - "orbital region", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormal tracheobronchial morphology", - "Aplasia/hypoplasia of the extremities", - "Hypoplastic facial bones", - "forelimb bone", - "anatomical entity hypoplasia", - "Abnormality of brain morphology", - "abnormal size of anatomical entity", - "Abnormality of the vertebral column", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "trunk", - "Macule", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "postcranial axial skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "cervical vertebra", - "jaw region", - "abnormal head", - "endochondral bone", + "dilated renal pelvis", + "negative regulation of biological process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "occurrent", "subdivision of skeleton", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "dorsal part of neck", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "Aplasia/Hypoplasia of the ear", - "external ear", - "abnormal neck morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "vertebral column", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "paired limb/fin skeleton", - "skeleton of limb", - "Delayed myelination", - "Abnormality of skin pigmentation", - "shape nose tip", - "Abnormality of globe location", - "Aplasia/Hypoplasia involving the central nervous system", - "Short neck", - "skeleton", - "cervical vertebra endochondral element", - "decreased length of neck", - "Abnormality of head or neck", - "bone of dorsum", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "endochondral bone phenotype", + "Metazoa", + "Abnormal hand morphology", "external soft tissue zone", + "skeletal system phenotype", "digit plus metapodial segment", - "abnormal autopod region morphology", + "appendage", + "anatomical entity phenotype", + "decreased length of organ", + "localised testis", + "musculoskeletal system", "Absent thumb", - "abnormal bone marrow cell morphology", "bone of free limb or fin", - "bone element", - "Abnormality of the eye", - "abnormal pes morphology", - "anatomical collection", + "cavitated compound organ phenotype", + "aplastic anatomical entity", "All", - "increased qualitatively biological_process", - "decreased size of the anatomical entity in the independent continuant", - "system", - "abnormal female reproductive system morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "neurogenesis", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "skeletal element", - "nucleic acid metabolic process", - "Abnormal myeloid cell morphology", - "leg", - "process", - "Abnormality of the ear", - "eyelid", - "Renal agenesis", - "abnormal respiratory system", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "entity", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "biological_process", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "Abnormal neck morphology", - "negative regulation of gene expression", - "response to stimulus", - "flattened anatomical entity", - "bone element hypoplasia in face", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "vestibulo-auditory system", - "protein-DNA complex organization", - "Abnormal anus morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "cell differentiation", - "appendicular skeletal system", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "manual digit morphology in the manus phenotype", + "forelimb zeugopod morphology phenotype", + "Upper limb undergrowth", + "skeleton of pectoral complex", + "paired limb/fin segment", + "absent multicellular anatomical structure", + "decreased length of endochondral bone", "Eukaryota", "negative regulation of cellular metabolic process", - "cervical region", - "dorsum", - "Abnormal nasal bridge morphology", - "erythroid lineage cell", - "non-material anatomical boundary", - "postcranial axial skeletal system", - "organelle organization", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of the gastrointestinal tract", - "quality", - "aplasia or hypoplasia of ear", - "absent external ear in the independent continuant", - "regulation of cellular biosynthetic process", - "proximo-distal subdivision of respiratory tract", - "behavior process", - "absent anatomical entity in the reproductive system", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "lateral structure", - "regulation of biological process", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal DNA metabolic process", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Depressed nasal tip", - "Abnormality of mental function", - "abnormal cellular process", - "nasal bridge", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "Webbed neck", - "Talipes", - "cellular metabolic process", - "Atypical behavior", - "simple eye", - "cellular component organization", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "midface", - "abnormal cellular component organization", - "abnormal trachea morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "negative regulation of biological process", + "abdomen element", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "forelimb endochondral element", + "Phenotypic abnormality", + "negative regulation of gene expression", + "regulation of metabolic process phenotype", + "Abnormality of the urinary system physiology", + "bone element phenotype", + "pectoral complex", + "multi-limb segment region phenotype", + "regulation of macromolecule metabolic process", + "upper limb segment phenotype", + "endochondral element phenotype", + "manual digit 1 morphology phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "closing of the subdivision of tube", + "skeleton of limb", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "musculature of manus", + "anatomical entity morphology in the pectoral complex phenotype", + "absent anatomical structure in the forelimb", + "aplasia or hypoplasia of manual digit 1", + "bone of pectoral complex phenotype", + "absent anatomical structure", + "orifice atresia", + "appendicular skeleton", + "upper limb segment", + "external soft tissue zone phenotype", + "limb phenotype", + "paired limb/fin skeleton", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "subdivision of digestive tract phenotype", + "limb bone", + "embryo phenotype", + "segment of manus", + "protein-containing material entity", + "manual digit plus metapodial segment", + "Anal atresia", + "limb endochondral element", + "agenesis of anatomical entity", + "thenar eminence hypoplasia", + "skeleton of manus", + "skeleton phenotype", + "palmar part of manus", + "Abnormal large intestine morphology", + "Aplasia/hypoplasia involving the skeleton", + "Abnormal limb bone morphology", "absent digit", - "glial cell development", - "anatomical space", - "Abnormal hindbrain morphology", - "phenotype", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal face", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormal respiratory system morphology", - "cervical region of vertebral column", - "aplasia or hypoplasia of external ear", - "pes", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "obsolete nitrogen compound metabolic process", - "lower jaw region", - "abnormal digit", - "thoracic segment of trunk", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "metabolic process", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "Abnormality of the palpebral fissures", - "pelvic region element", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "secondary palate", - "organism", - "irregular bone", - "Chromosome breakage", - "abnormal chromatin organization", - "Abnormal cellular phenotype", - "curvature anatomical entity in independent continuant", - "negative regulation of cellular process", - "abnormal limb", - "Abnormality of digestive system morphology", - "radius endochondral element", - "abnormal behavior", - "Abnormal sacrum morphology", - "aplastic manual digit 1", - "membrane bone", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", - "independent continuant", - "Microtia", - "Abnormality of the neck", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "ensheathment of neurons", - "regulation of cellular process", - "manus", - "abnormal eyelid morphology", - "cellular process", - "Abnormal digit morphology", - "neck", - "abnormal central nervous system myelination", - "organ subunit", - "negative regulation of cellular biosynthetic process", - "forelimb zeugopod bone", - "nervous system", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "abnormal anatomical entity", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "anatomical system", - "upper digestive tract", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "orifice", + "arm", + "trunk region element physiology phenotype", + "male reproductive organ phenotype", + "autopodial extension phenotype", + "manual digit", + "Abnormal cardiovascular system morphology", + "continuant", + "absent material anatomical entity in the forelimb", + "late embryo phenotype", + "regulation of cellular process phenotype", + "forelimb zeugopod", + "Abnormal appendicular skeleton morphology", "multicellular organism", "regulation of macromolecule biosynthetic process", - "female reproductive organ", - "long bone", - "material entity", - "negative regulation of biosynthetic process", - "decreased size of the penis", - "Abnormality of the lower limb", - "endochondral element", - "abnormal neck", - "abnormal brain ventricle morphology", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal behavior process", - "abnormal ear morphology", - "cellular organisms", - "Decreased anatomical entity position", - "increased size of the anatomical entity", - "limb", - "main body axis", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "axial skeletal system", - "Growth abnormality", + "muscle organ morphology phenotype", + "autopod region phenotype", + "material anatomical entity phenotype", + "forelimb long bone phenotype", "skeletal system", - "decreased size of the cerebellum", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "subdivision of vertebral column", + "Hypoplasia of the radius", + "programmed DNA elimination by chromosome breakage phenotype", + "manus phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "regulation of metabolic process", + "autopodial extension", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "mesoderm-derived structure phenotype", + "bone element", + "regulation of biological process", + "digit 1 phenotype", + "lateral structure", + "mesoderm-derived structure", + "Stage 5 chronic kidney disease", + "closing of the multicellular anatomical structure", + "organ system subdivision", + "thenar eminence phenotype", + "musculature", + "Abnormality of the thenar eminence", + "number of anatomical enitites of type organism subdivision phenotype", + "limb endochondral element phenotype", + "anatomical structure", + "paired limb/fin phenotype", + "absent multicellular anatomical structure in the multicellular organism", + "anatomical conduit phenotype", + "taxon specific phenotype", + "Abnormal rectum morphology", "absent manual digit", - "abnormal development of anatomical entity", "Abnormal thumb morphology", "subdivision of trunk", - "axon ensheathment in central nervous system", - "eye", - "compound organ", - "decreased qualitatively biological_process", - "anatomical entity", - "digit", - "Unilateral renal agenesis", - "Abnormal cerebellum morphology", - "upper limb segment", - "appendicular skeleton", - "Abnormal skeletal morphology", + "limb segment", + "forelimb morphology phenotype", + "musculature of limb", + "Abnormal cellular physiology", + "cardiovascular system", + "male reproductive system phenotype", + "aplastic manual digit 1", + "anatomical entity morphology in the manus phenotype", + "anatomical system", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "lower digestive tract", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "subdivision of digestive tract", + "regulation of cellular biosynthetic process phenotype", + "limb bone morphology phenotype", + "decreased size of the forelimb endochondral element", + "renal pelvis", "forelimb", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "abnormal primary metabolic process", - "body proper", - "abnormal opening of the anatomical entity", - "dorsal region element", - "chromatin organization", - "Reduced impulse control", - "abnormal location of external ear", - "abnormal nervous system", - "Attention deficit hyperactivity disorder", - "abnormal leg", - "craniocervical region", - "posterior region of body", - "Cleft palate", - "behavior", - "Abnormal appendicular skeleton morphology", - "Abnormal forearm morphology", - "vertebra", - "decreased length of anatomical entity in independent continuant", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal vertebral column", - "subdivision of head", - "appendage girdle complex", - "dermal skeletal element", - "subdivision of organism along main body axis", - "developmental process", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abdominal segment bone", - "abnormal facial skeleton morphology", - "material anatomical entity", - "trachea", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "abnormal skeletal system morphology", - "protein-containing material entity", - "segment of manus", - "Abnormality of the musculoskeletal system", - "organ system subdivision", - "Abnormality of the anus", - "shape anatomical entity", - "ventricular system of brain", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of digestive system physiology", - "absent anatomical entity", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal palate morphology", - "skeleton of pectoral complex", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "absent anatomical entity in the limb", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "dermal skeleton", - "aplasia or hypoplasia of manual digit 1", - "anatomical conduit", - "abnormal limb morphology", - "abdomen", - "manual digit 1 plus metapodial segment", - "trunk bone", - "bone of appendage girdle complex", - "anatomical wall", - "arm", - "mesoderm-derived structure", - "Abnormal facial skeleton morphology", + "Abnormal skeletal morphology", + "pathological phenotype observation", + "decreased size of the anatomical entity in the pectoral complex", + "digit 1 or 5", "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "system", + "regulation of gene expression phenotype", + "bone of appendage girdle complex phenotype", + "Abnormality of prenatal development or birth", + "trunk region element", + "decreased size of the manual digit", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "paired limb/fin segment phenotype", + "ectoderm-derived structure", + "decreased length of limb bone", + "Abnormal digit morphology", + "negative regulation of cellular process", "forelimb skeleton", - "delayed biological_process in independent continuant", - "digitopodium region", - "abnormal growth", - "pelvic complex", - "acropodium region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the manus", - "Finger aplasia", - "macromolecule metabolic process", - "pelvic region of trunk", - "palpebral fissure", - "fused sacrum hypoplasia", - "nucleobase-containing compound metabolic process", - "Short attention span", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal internal genitalia", - "aplasia or hypoplasia of vertebral column", - "abnormal fused sacrum morphology", - "skull", - "limb skeleton subdivision", - "Aplasia/Hypoplasia involving the vertebral column", - "abnormal craniocervical region", - "sacral region of vertebral column", - "Abnormal upper limb bone morphology", - "skin of body", - "reproductive system", - "sacral region", - "Aplasia/Hypoplasia of the sacrum", - "Global developmental delay", + "genitourinary system", + "renal pelvis phenotype", + "anatomical entity", + "phenotypic effect", + "size of anatomical entity phenotype", + "Proximal placement of thumb", + "alimentary part of gastrointestinal system phenotype", + "pectoral appendage skeleton", + "forelimb endochondral element phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", "biological regulation", "abdominal segment of trunk", - "bony pelvis", - "bone element hypoplasia in independent continuant", - "abnormal penis morphology", - "hindlimb", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", - "abnormal cellular metabolic process", - "Hypoplastic sacrum", - "aplasia or hypoplasia of fused sacrum", - "Delayed CNS myelination", - "fused sacrum", - "Neoplasm", - "Tracheoesophageal fistula", - "Abnormal jaw morphology", - "abnormal ear", - "Low-set ears", - "abnormal esophagus morphology", - "penis", - "digestive system element", - "kidney", - "abnormal biological_process", - "Growth delay", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", - "organ part", + "manus", + "thenar eminence", + "Abnormality of limbs", "regulation of gene expression", "pectoral appendage", - "respiratory system", - "obsolete cell", - "programmed DNA elimination", + "Abnormality of the musculoskeletal system", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "multicellular organism morphology phenotype", + "absent multicellular anatomical structure in the limb", + "Abnormality of the musculature of the limbs", + "anatomical structure physiology phenotype", + "digit morphology phenotype", + "aplasia or hypoplasia of skeleton", + "anatomical conduit atresia", + "Deviation of finger", + "Abnormality of the skeletal system", + "Abnormality of limb bone", + "homeostatic process phenotype", + "Abnormal renal pelvis morphology", + "Aplasia/hypoplasia of the extremities", + "Short stature", + "digit 1", + "aplasia or hypoplasia of manual digit", + "Abnormality of the musculature", + "number of anatomical enitites of type material anatomical entity phenotype", + "thoracic segment of trunk", + "limb bone phenotype", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "absent organism subdivision", + "autopod region", + "decreased length of bone of pectoral complex", + "skeleton", + "anatomical collection phenotype", + "quality", + "absent anatomical structure in the limb", + "decreased length of mesoderm-derived structure", + "negative regulation of macromolecule metabolic process", + "abdominal segment element", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "Deviation of the thumb", + "regulation of biosynthetic process", + "bone of appendage girdle complex", + "absent anatomical entity", + "process", + "Abnormality of metabolism/homeostasis", + "limb morphology phenotype", + "biological regulation phenotype", + "intestine phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "external male genitalia", + "organism subdivision", + "limb segment phenotype", + "digit 1 or 5 phenotype", "digestive system", - "subdivision of tube", - "abnormal alimentary part of gastrointestinal system", - "oral cavity", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal respiratory system physiology", - "abnormal female reproductive organ morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "tracheobronchial tree", - "trunk region element", - "Aplasia/Hypoplasia of the external ear", - "endoderm-derived structure", - "pelvic appendage", - "respiratory tube", - "abnormal nose tip morphology", - "alimentary part of gastrointestinal system atresia", - "respiratory tract", - "forelimb endochondral element", - "primary metabolic process", - "Abnormality of the skin", - "abnormal bone marrow morphology", - "flat anatomical entity", - "lower respiratory tract", - "Abnormal esophagus morphology", - "abnormal tracheobronchial tree morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormality of respiratory system physiology", - "thoracic segment organ", - "digestive tract", - "Abnormal tracheal morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Abnormality of the respiratory system", - "central nervous system development", - "hemolymphoid system", - "esophagus", - "Abnormal location of ears", - "subdivision of digestive tract", - "delayed biological_process", - "Abnormality of the cervical spine", - "abnormal digestive system", - "tube", - "respiratory airway", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "abnormal nervous system morphology", - "Hydrocephalus", + "anatomical entity morphology phenotype", + "obsolete cell", + "decreased length of long bone", + "programmed DNA elimination", + "spatial pattern of anatomical entity phenotype", + "subdivision of tube atresia", + "multi-limb segment region", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "musculature of pectoral complex phenotype", + "decreased length of anatomical structure", + "musculature of manus phenotype", + "trunk", + "Abnormality of the musculature of the hand", + "appendage musculature", + "manus morphology phenotype", + "musculature of upper limb phenotype", + "Abnormality of the musculature of the upper limbs", + "compound organ physiology phenotype", + "Small thenar eminence", + "abdomen element physiology phenotype", + "pectoral appendage musculature phenotype", + "digit 1 plus metapodial segment", + "Abnormal renal physiology", + "Intestinal atresia", + "arm bone", + "kidney physiology phenotype", + "radius endochondral element", + "anatomical system physiology phenotype", + "abdominal segment element physiology phenotype", + "localised anatomical structure", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "cavitated compound organ physiology phenotype", + "decreased size of the organ", + "decreased size of the endochondral bone", + "Chronic kidney disease", + "renal system phenotype", + "multicellular anatomical structure physiology phenotype", + "body proper", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", - "cerebrospinal fluid", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "bone of craniocervical region", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Positional foot deformity", + "renal system physiology phenotype", + "multicellular anatomical structure phenotype", + "Renal insufficiency", + "Abnormality of the kidney", + "material anatomical entity physiology phenotype", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "multicellular anatomical structure atresia", + "excretory system", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "absent autopodial extension", + "Fetal ultrasound soft marker", + "closing of the material anatomical entity", + "circulatory system", + "subdivision of organism along main body axis", + "main body axis", + "localised multicellular anatomical structure", + "lateral structure physiology phenotype", + "renal system", + "digestive system morphology phenotype", "Abnormality of the urinary system", - "abnormal anus morphology", - "organ component layer", - "Morphological central nervous system abnormality", - "Abnormal cell morphology", - "lower limb segment", - "abnormal brain morphology", - "aplasia or hypoplasia of cerebellum", - "abnormally increased number of anatomical entity in the independent continuant", - "organism substance", - "abnormally increased number of anatomical entity", - "external ear hypoplasia", - "abnormal brain ventricle/choroid plexus morphology", - "flat anatomical entity in independent continuant", - "mouth", - "abnormal mandible morphology", - "anatomical point", - "ventricle of nervous system", - "Abnormality of limb bone", - "central nervous system", - "ventricular system of central nervous system", - "abnormal central nervous system morphology", - "transudate", - "Cafe-au-lait spot", - "increased length of the anatomical entity", - "myelination", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "abnormal location of ear", - "abnormal ocular adnexa", - "abnormal anatomical entity topology in independent continuant", - "Decreased external ear position", - "external nose", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal external ear", - "increased biological_process", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "integumental system", - "integument", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", + "renal/urinary system phenotype", + "anatomical entity hypoplasia", + "forelimb bone", + "upper urinary tract phenotype", + "decreased length of digit 1 or 5", + "decreased length of forelimb bone", + "decreased length of bone element", + "limb long bone morphology phenotype", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "Forearm undergrowth", "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "abnormal hindlimb morphology", - "abnormal integument", - "brain ventricle", - "eyeball of camera-type eye", - "abnormal anus", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "Abnormal CNS myelination", - "immaterial anatomical entity", - "penis hypoplasia", - "limb endochondral element", - "Anal atresia", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "Abnormality of the face", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "roof of mouth", - "Abnormality of the orbital region", - "visual system", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormal ocular adnexa morphology", - "Abnormal eyelid morphology", - "absent uterus", - "ectoderm-derived structure", - "Slanting of the palpebral fissure", - "reproductive organ", - "abnormal skull morphology", + "forelimb long bone", + "Abnormal forearm morphology", + "testis phenotype", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "structure with developmental contribution from neural crest", + "Abnormality of the hand", + "radius bone", + "heart", + "Limb undergrowth", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "decreased length of skeletal element", + "decreased size of the material anatomical entity", + "decreased size of the long bone", + "forelimb zeugopod bone hypoplasia", + "decreased size of the bone of pectoral complex", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Hydronephrosis", + "decreased length of organism subdivision", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "Abnormal testis morphology", + "cardiovascular system phenotype", + "decreased size of the bone of free limb or fin", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased size of the limb bone", + "multi-tissue structure", + "limb long bone phenotype", + "forelimb zeugopod bone", + "decreased length of manual digit 1 or 5", + "decreased length of multicellular anatomical structure", + "kidney", + "Growth delay", + "radius bone phenotype", + "decreased length of digit 1", + "alimentary part of gastrointestinal system morphology phenotype", + "decreased length of forelimb zeugopod bone", + "acropodium region", + "decreased size of the limb endochondral element", + "appendage musculature phenotype", + "forelimb bone phenotype", + "decreased length of limb endochondral element", + "Short forearm", + "delayed biological_process", + "decreased length of material anatomical entity", + "Abnormal upper limb bone morphology", + "closing of the anatomical system", + "decreased size of the arm bone", + "decreased size of the bone of appendage girdle complex", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "bone of pectoral complex morphology phenotype", + "negative regulation of metabolic process phenotype", + "Short finger", + "organ", + "decreased size of the anatomical structure", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the endochondral element", + "decreased length of forelimb endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "long bone phenotype", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "increased size of the anatomical structure", + "primary circulatory organ", + "localised organ", + "thoracic segment organ", + "renal pelvis/ureter", + "phenotype", + "Fetal pyelectasis", + "embryonic development/birth phenotype", + "Abnormal fetal genitourinary system morphology", + "organ part", + "external genitalia phenotype", + "multicellular organism phenotype", + "decreased length of autopodial extension", + "organ part phenotype", + "Abnormal renal morphology", + "increased size of the organ part", + "Fetal anomaly", + "renal pelvis morphology phenotype", + "anatomical cluster", + "manual digitopodium region", + "Abnormality of the male genitalia", + "upper urinary tract", + "decreased length of digit", + "anatomical conduit", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Dilatation of the renal pelvis", + "Gastrointestinal atresia", + "late embryo", + "limb", + "increased size of the anatomical entity", + "increased size of the material anatomical entity", + "biological_process", + "genitourinary system phenotype", + "dilated anatomical entity", + "embryo", + "increased size of the anatomical conduit", "anus atresia", - "abnormal palpebral fissure", - "abnormal face morphology", - "ocular adnexa", - "camera-type eye", + "Short long bone", + "reproductive organ", + "Abnormal fetal morphology", + "increased size of the multicellular anatomical structure", + "decreased length of bone of appendage girdle complex", + "Abnormal male external genitalia morphology", + "Abnormality of the genital system", + "testis", + "large intestine morphology phenotype", + "localised reproductive structure", + "reproductive system phenotype", + "Cryptorchidism", + "heart plus pericardium", + "subdivision of tube", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "reproductive structure phenotype", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "external genitalia", + "disconnected anatomical group", + "male reproductive organ", + "gonad phenotype", + "reproductive structure", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "external male genitalia phenotype", + "decreased size of the organism subdivision", + "anterior region of body", + "decreased length of manual digit 1", + "rectum phenotype", + "paired limb/fin", + "decreased size of the digit", + "Short thumb", + "Short digit", + "decreased size of the forelimb bone", + "deviation of manual digit 1", + "Abnormal morphology of the radius", + "Deviation of the hand or of fingers of the hand", + "deviation of manual digit", + "Growth abnormality", + "cardiovascular system morphology phenotype", + "decreased size of the skeletal element", + "reproductive organ phenotype", + "viscus", + "circulatory organ", + "heart morphology phenotype", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", + "tube", + "Abnormality of body height", + "size of multicellular organism phenotype", + "arm bone phenotype", "delayed growth", - "abnormal eyeball of camera-type eye", - "increased anatomical entity length in independent continuant", - "abnormal location of eyeball of camera-type eye", - "anatomical line", - "Talipes equinovarus", - "absent kidney in the renal system", - "Hypermelanotic macule", - "Abnormal foot morphology", - "Aplasia/hypoplasia of the uterus", - "Hyperpigmentation of the skin", - "Bilateral talipes equinovarus", - "aplasia or hypoplasia of mandible", - "blood cell", - "Abnormality of the genitourinary system", - "head bone", - "Aplasia/Hypoplasia involving bones of the skull", - "cell", - "Abnormality of the mouth", - "anus", - "Abnormal skull morphology", - "pectoral complex", - "dermatocranium", - "abnormal jaw skeleton morphology", - "facial bone hypoplasia", - "segmental subdivision of hindbrain", - "digit 1 or 5", - "bone of jaw", + "number of anatomical enitites of type anatomical structure phenotype", + "decreased size of the multicellular organism", + "regulation of cellular process", + "decreased height of the anatomical entity", + "growth phenotype", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", ], }, { - "id": "MONDO:0012187", + "id": "MONDO:0010953", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group J", + "name": "Fanconi anemia complementation group E", + "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", + "provided_by": "phenio_nodes", "xref": [ - "DOID:0111097", - "GARD:15449", - "MESH:C563801", - "NCIT:C129027", - "OMIM:609054", - "UMLS:C1836860", + "DOID:0111084", + "GARD:15324", + "MEDGEN:463628", + "NCIT:C125709", + "OMIM:600901", + "UMLS:C3160739", ], - "provided_by": "phenio_nodes", - "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.", "synonym": [ - "FANCJ", - "Fanconi Anemia, complementation group type J", - "Fanconi anaemia complementation group type J", - "Fanconi anemia complementation group J", - "Fanconi anemia complementation group type J", - "Fanconi anemia, complementation group J", + "FANCE", + "FANCE Fanconi anaemia", + "FANCE Fanconi anemia", + "Fanconi Anemia, complementation group type E", + "Fanconi anaemia caused by mutation in FANCE", + "Fanconi anaemia complementation group type E", + "Fanconi anemia caused by mutation in FANCE", + "Fanconi anemia complementation group E", + "Fanconi anemia complementation group type E", + "Fanconi anemia, complementation group E", + "face", ], "namespace": "MONDO", "has_phenotype": [ + "HP:0001875", + "HP:0009777", + "HP:0001249", + "HP:0000086", + "HP:0000252", + "HP:0000815", + "HP:0000104", + "HP:0001017", + "HP:0001876", + "HP:0000028", + "HP:0003974", + "HP:0001873", "HP:0009778", - "HP:0005528", - "HP:0001511", - "HP:0007565", - "HP:0008897", + "HP:0001896", "HP:0000568", + "HP:0001518", "HP:0001263", "HP:0003221", + "HP:0009943", + "HP:0000978", + "HP:0001627", + "HP:0000953", + "HP:0000957", + "HP:0001903", + "HP:0001909", + "HP:0000081", + "HP:0004322", + "HP:0000486", + "HP:0000365", + "HP:0003214", + "HP:0003213", + "HP:0000085", ], "has_phenotype_label": [ + "Neutropenia", + "Absent thumb", + "Intellectual disability", + "Ectopic kidney", + "Microcephaly", + "Hypergonadotropic hypogonadism", + "Renal agenesis", + "Anemic pallor", + "Pancytopenia", + "Cryptorchidism", + "Absent radius", + "Thrombocytopenia", "Short thumb", - "Bone marrow hypocellularity", - "Intrauterine growth retardation", - "Multiple cafe-au-lait spots", - "Postnatal growth retardation", + "Reticulocytopenia", "Microphthalmia", + "Small for gestational age", "Global developmental delay", "Chromosomal breakage induced by crosslinking agents", + "Complete duplication of thumb phalanx", + "Bruising susceptibility", + "Abnormal heart morphology", + "Hyperpigmentation of the skin", + "Cafe-au-lait spot", + "Anemia", + "Leukemia", + "Duplicated collecting system", + "Short stature", + "Strabismus", + "Hearing impairment", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Horseshoe kidney", ], - "has_phenotype_count": 8, + "has_phenotype_count": 32, "has_phenotype_closure": [ - "GO:0005623", - "UPHENO:0049990", - "GO:0010629", - "GO:0065007", - "UPHENO:0050021", + "UPHENO:0041226", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0051124", + "GO:0046483", "UPHENO:0050116", - "HP:0003221", - "GO:0010468", - "GO:0031327", - "UPHENO:0049748", - "GO:0031049", - "GO:0031326", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "GO:0008152", + "UPHENO:0049586", + "UPHENO:0049964", + "GO:0044238", + "GO:0006950", + "GO:0051716", + "HP:0003213", + "UPHENO:0050121", + "GO:0051319", + "GO:0007049", + "HP:0003214", + "UPHENO:0052160", + "UPHENO:0050620", + "GO:0007605", "GO:0009987", + "HP:0000365", + "UPHENO:0005596", + "UBERON:0002105", + "UPHENO:0041075", + "GO:0007600", + "UPHENO:0052159", + "UPHENO:0052970", + "UPHENO:0050625", + "UPHENO:0049699", + "UPHENO:0049703", "GO:0006807", + "HP:0031704", + "UPHENO:0049989", + "UPHENO:0005512", + "GO:0050954", + "UPHENO:0005518", + "UPHENO:0050106", + "HP:0000549", + "HP:0000708", + "NBO:0000444", + "UPHENO:0002219", + "NBO:0000338", + "UPHENO:0079828", + "GO:0007610", + "UPHENO:0002211", + "HP:0000496", + "HP:0011018", + "UBERON:0000015", + "UBERON:0010222", + "BFO:0000141", + "HP:0000486", + "UPHENO:0000543", + "HP:0001510", + "HP:0004322", + "UPHENO:0080351", + "UPHENO:0075159", + "UPHENO:0075787", + "UPHENO:3000003", + "HP:0001909", + "HP:0002664", + "UPHENO:0054970", + "GO:0043473", + "UPHENO:0050234", + "UPHENO:0080662", + "UPHENO:0054957", + "UBERON:0000948", + "HP:0001627", + "HP:0030680", + "UPHENO:0050019", + "UBERON:0005181", + "UBERON:0005178", + "HP:0002597", + "HP:0001933", "GO:0071704", - "GO:0071840", + "MPATH:105", + "UPHENO:0002678", + "UBERON:0007798", + "MPATH:603", + "MPATH:119", + "GO:0006139", + "HP:0011354", + "UBERON:0000477", + "HP:0001626", + "UBERON:0001009", + "MPATH:0", + "HP:0001892", + "MPATH:1000", + "UBERON:0015063", + "UBERON:5106048", + "UBERON:5102389", + "UBERON:0010688", + "UBERON:0011818", + "HP:0011314", + "UBERON:0015023", + "UBERON:0015024", + "UBERON:5101463", + "GO:0090304", + "UBERON:0012150", + "HP:0009942", + "HP:0009943", + "UBERON:0003221", + "UBERON:0012357", + "GO:0005623", + "UPHENO:0049757", + "UPHENO:0049775", + "UPHENO:0050784", + "HP:0009602", + "UPHENO:0050126", + "HP:0001939", + "NBO:0000313", + "GO:0010558", + "GO:0031327", + "UBERON:0000915", + "UPHENO:0050065", + "UPHENO:0049904", "GO:0050794", "GO:0019222", - "GO:0048519", - "GO:0006139", - "GO:0043170", - "GO:0006725", - "GO:0034641", - "UPHENO:0078606", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", + "GO:0008152", + "GO:0051325", + "GO:0060255", "GO:0009889", - "GO:0048523", - "HP:0001939", - "GO:0006996", - "GO:0043933", - "UPHENO:0050845", - "HP:0012758", - "UPHENO:0002332", - "UPHENO:0002433", - "UPHENO:0004523", - "HP:0012638", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UPHENO:0050025", + "UPHENO:0049622", + "UPHENO:0050435", + "UBERON:0000466", + "UPHENO:0049868", + "GO:0042592", + "UPHENO:0049743", + "UPHENO:0050063", + "UBERON:0002075", + "GO:0031049", + "GO:0031052", + "GO:0010556", + "GO:0031326", + "GO:0009890", 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"UBERON:0034923", + "UBERON:0002544", + "UPHENO:0002948", "UBERON:0000020", - "UBERON:0010708", - "UBERON:0000019", - "UBERON:0010230", - "GO:0050789", - "UBERON:0013701", - "HP:0012372", - "HP:0000271", - "UBERON:0012354", - "HP:0001000", - "UPHENO:0080209", - "HP:0000152", - "UPHENO:0087907", + "UPHENO:0003025", + "UPHENO:0025553", + "UPHENO:0005513", + "BFO:0000004", + "UPHENO:0012308", "UPHENO:0001002", - "UPHENO:0087924", - "UPHENO:0000541", - "UBERON:0001456", - "UBERON:0000970", - ], - "has_phenotype_closure_label": [ - "programmed DNA elimination", - "obsolete cell", - "abnormal metabolic process", - "negative regulation of biosynthetic process", - "DNA metabolic process", - "protein-DNA complex organization", - "Abnormality of chromosome stability", - "regulation of macromolecule metabolic process", - "regulation of biosynthetic process", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal cellular metabolic process", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal cellular process", - "abnormal chromatin organization", - "Chromosome breakage", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "obsolete heterocycle metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "Chromosomal breakage induced by crosslinking agents", - "Global developmental delay", - "Neurodevelopmental abnormality", - "abnormality of anatomical entity physiology", - "nervous system", - "Abnormality of the nervous system", - "abnormal nervous system", - "Abnormal cellular physiology", - "organic substance metabolic process", - "abnormality of nervous system physiology", - "Abnormality of the head", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "cellular metabolic process", - "simple eye", - "digit 1 or 5", - "arm", - "abnormal pigmentation in independent continuant", - "abnormal head morphology", - "abnormal anatomical entity morphology in the independent continuant", - "manual digit 1 plus metapodial segment", - "manual digit 1 or 5", - "abnormal hematopoietic system", - "aplasia or hypoplasia of anatomical entity", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal limb morphology", - "macromolecule metabolic process", - "appendage girdle complex", - "abnormal cell", - "phenotype by ontology source", - "Abnormal thumb morphology", - "growth", - "bone of free limb or fin", - "abnormal autopod region morphology", - "skeleton", - "abnormal manual digit morphology in the independent continuant", - "decreased length of digit", - "changed biological_process rate in independent continuant", - "cellular process", - "Abnormal digit morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormal finger morphology", - "aplasia or hypoplasia of manual digit 1", - "appendicular skeletal system", - "endochondral element", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "forelimb skeleton", - "limb bone", - "Abnormality of multiple cell lineages in the bone marrow", - "bone of appendage girdle complex", - "Abnormality of the hand", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "mesoderm-derived structure", - "abnormal forelimb morphology", - "Irregular hyperpigmentation", - "limb endochondral element", - "phenotype", - "Abnormal cell morphology", - "Short digit", - "limb skeleton subdivision", - "delayed biological_process", - "autopod region", - "digit 1", - "aplasia or hypoplasia of manual digit", - "material anatomical entity", - "digit plus metapodial segment", - "multicellular anatomical structure", - "multi-limb segment region", - "anterior region of body", - "appendicular skeleton", - "upper limb segment", - "decreased length of manual digit", - "integumental system", - "pectoral complex", - "abnormal appendicular skeleton morphology", - "paired limb/fin skeleton", - "autopodial skeleton", - "Abnormality of the musculoskeletal system", - "appendage", - "subdivision of skeletal system", - "entity", - "abnormal limb bone morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "tissue", - "abnormal embryo development", - "abnormal craniocervical region morphology", - "Short finger", - "skeleton of manus", - "abnormal development of anatomical entity", - "abnormal digit", - "abnormal head", - "eye", - "paired limb/fin segment", - "digit", - "Hyperpigmentation of the skin", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "integument", - "abnormal manus", - "subdivision of organism along appendicular axis", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "skeletal system", - "skin of body", - "abnormal developmental process", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "disconnected anatomical group", - "hematopoietic system", - "multicellular organism", - "Abnormality of the orbital region", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "manual digit", - "Abnormal eye morphology", - "decreased length of manual digit 1", - "Neurodevelopmental delay", - "pectoral appendage", - "body proper", - "head", - "Abnormality of limb bone", - "organ system subdivision", - "digit 1 plus metapodial segment", - "abnormal arm", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "organism subdivision", - "anatomical system", - "occurrent", - "organ", - "abnormal digit morphology", - "quality", - "abnormal manus morphology", - "pectoral appendage skeleton", - "manual digit plus metapodial segment", - "negative regulation of gene expression", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abnormal anatomical entity", - "endochondral bone", - "subdivision of skeleton", - "abnormal anatomical entity length", - "bone element", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "anatomical structure", - "protein-containing material entity", - "abnormal skeletal system morphology", - "segment of manus", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "bone marrow", - "acropodium region", - "abnormal limb", - "manus", - "subdivision of organism along main body axis", - "abnormal phenotype by ontology source", - "abnormal size of anatomical entity", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Abnormal appendicular skeleton morphology", - "material entity", - "Macule", - "abnormal immune system", - "system", - "bone marrow cell", - "Abnormal cellular phenotype", - "hemolymphoid system", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "abnormal immune system morphology", - "Abnormality of blood and blood-forming tissues", - "non-connected functional system", - "abnormal cell morphology", - "immune system", - "Abnormality of the immune system", - "limb", - "Abnormality of the upper limb", - "cell", - "skeletal element", - "Bone marrow hypocellularity", - "Abnormality of the face", - "anatomical structure development", - "independent continuant", - "abnormal growth", - "decreased developmental process", - "biological_process", - "embryo development", - "decreased qualitatively developmental process", - "abnormal bone marrow cell", - "camera-type eye", - "process", - "lateral structure", - "changed developmental process rate", - "abnormal biological_process", - "eyeball of camera-type eye", - "abnormal integument", - "developmental process", - "Growth delay", - "delayed growth", - "organic cyclic compound metabolic process", - "segment of autopod", - "multicellular organism development", - "abnormal manual digit 1 morphology", - "Short thumb", - "Intrauterine growth retardation", - "changed embryo development rate", - "decreased embryo development", - "increased biological_process", - "abnormal face morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "Abnormal hand morphology", - "Localized skin lesion", - "increased pigmentation in independent continuant", - "increased pigmentation", - "regulation of cellular biosynthetic process", - "biological regulation", - "Abnormality of globe size", - "abnormal pigmentation", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "Cafe-au-lait spot", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "abnormal skin of body morphology", - "skeleton of limb", - "Abnormality of skin pigmentation", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "increased pigmentation in skin of body", - "Abnormality of the skin", - "Postnatal growth retardation", - "abnormal limb bone", - "sense organ", - "abnormal skeletal system", - "Multiple cafe-au-lait spots", - "Microphthalmia", - "Abnormal nervous system physiology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "subdivision of head", - "craniocervical region", - "main body axis", - "visual system", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", - "abnormal eyeball of camera-type eye", - "continuant", - "entire sense organ system", - "orbital region", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", - "Growth abnormality", - "face", - "Abnormality of head or neck", - "autopodial extension", - "abnormal face", - "musculoskeletal system", - "Abnormality of the eye", - ], - }, - { - "id": "MONDO:0012565", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group N", - "xref": ["DOID:0111094", "GARD:15500", "MESH:C563657", "OMIM:610832", "UMLS:C1835817"], - "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.", - "synonym": [ - "FANCN", - "Fanconi Anemia, complementation group type N", - "Fanconi anaemia caused by mutation in PALB2", - "Fanconi anaemia complementation group type N", - "Fanconi anemia caused by mutation in PALB2", - "Fanconi anemia complementation group N", - "Fanconi anemia complementation group type N", - "Fanconi anemia, complementation group N", - "PALB2 Fanconi anaemia", - "PALB2 Fanconi anemia", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0000470", - "HP:0002984", - "HP:0009777", - "HP:0002667", - "HP:0000252", - "HP:0004808", - "HP:0002885", - "HP:0001631", - "HP:0009778", - "HP:0000125", - "HP:0000568", - "HP:0001518", - "HP:0001915", - "HP:0003221", - "HP:0003006", - "HP:0000086", - "HP:0000957", - "HP:0002023", - "HP:0000316", - "HP:0008897", - "HP:0000953", - "HP:0001629", - "HP:0000085", - "HP:0000122", - "HP:0000286", - ], - "has_phenotype_label": [ - "Short neck", - "Hypoplasia of the radius", - "Absent thumb", - "Nephroblastoma", - "Microcephaly", - "Acute myeloid leukemia", - "Medulloblastoma", - "Atrial septal defect", - "Short thumb", - "Pelvic kidney", - "Microphthalmia", - "Small for gestational age", - "Aplastic anemia", - "Chromosomal breakage induced by crosslinking agents", - "Neuroblastoma", - "Ectopic kidney", - "Cafe-au-lait spot", - "Anal atresia", - "Hypertelorism", - "Postnatal growth retardation", - "Hyperpigmentation of the skin", - "Ventricular septal defect", - "Horseshoe kidney", - "Unilateral renal agenesis", - "Epicanthus", - ], - "has_phenotype_count": 25, - "has_phenotype_closure": [ - "UPHENO:0076761", - "UBERON:0001457", - "UPHENO:0021791", - "UPHENO:0087058", - "UPHENO:0087307", - "UBERON:0013766", - "UBERON:0000014", - "UPHENO:0075878", - "UPHENO:0087928", - "UBERON:0001711", - "HP:0032039", - "UBERON:0034921", - "HP:0000286", - "HP:0030669", - "HP:0000492", - "UPHENO:0025100", - "UPHENO:0026980", - "UPHENO:0008593", - "HP:0000122", - "UPHENO:0041075", - "HP:0000085", - "UPHENO:0041821", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", - "UPHENO:0041629", - "UPHENO:0033604", - "HP:0010438", - "UPHENO:0015282", - "HP:0008897", - "HP:0001510", - "UPHENO:0018424", - "UBERON:0006800", - "UPHENO:0072195", - "UBERON:0000015", - "UPHENO:0072194", - "UPHENO:0055730", - "HP:0100886", - "UBERON:0000466", - "UBERON:0000161", - "HP:0004378", - "UBERON:0001555", - "UBERON:0010222", - "UPHENO:0063599", - "UPHENO:0076803", - "HP:0025031", - "HP:0011121", - "HP:0000104", - "HP:0011355", - "GO:0043473", - "UPHENO:0060026", - "UPHENO:0074589", - "HP:0001000", - "UPHENO:0080662", - "UPHENO:0059829", - "UPHENO:0082682", - "UBERON:0002097", - "UBERON:0002416", - "HP:0001574", - "UPHENO:0054957", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0054970", - "HP:0001034", - "HP:0030061", - "HP:0030063", - "BFO:0000141", - "HP:0003006", - "HP:0030067", - "HP:0004376", - "HP:0030060", - "UPHENO:0000543", - "HP:0030065", - "GO:0005623", - "UBERON:8450002", - "HP:0025033", - "HP:0010786", - "UBERON:0008785", - "GO:0010558", - "UBERON:0011138", - "UBERON:0002513", - "GO:0031323", - "HP:0010935", - "UBERON:0004122", - "HP:0002898", - "HP:0011793", - "UBERON:0001008", - "UBERON:0005173", - "UPHENO:0086857", - "UBERON:0005177", - "UBERON:0002199", - "HP:0000077", - "UPHENO:0002905", - "UBERON:0002113", - "UPHENO:0012274", - "UPHENO:0085118", - "UBERON:0011143", - "UPHENO:0053580", - "UPHENO:0074228", - "HP:0009380", - "HP:0011792", - "UPHENO:0015327", - "UBERON:0019221", - "NCBITaxon:2759", - "UPHENO:0080300", - "UPHENO:0009382", - "UBERON:0002544", - "UPHENO:0046571", - "UPHENO:0076723", - "UPHENO:0008523", - "UPHENO:0087518", - "UPHENO:0001072", - "OBI:0100026", - "UPHENO:0006910", - "UPHENO:0002839", - "GO:0006807", - "UBERON:5006048", - "UPHENO:0081435", - "PATO:0000001", - "UPHENO:0080114", - "HP:0011297", - "UPHENO:0080325", - "UPHENO:0002642", - "UBERON:0015203", - "HP:0001627", - "UBERON:0012141", - "HP:0007379", - "UPHENO:0086700", - "UPHENO:0026183", - "UPHENO:0002708", - "HP:0040068", - "UBERON:0009569", - "UBERON:0002398", - "UBERON:0005451", - "UBERON:0000467", - "UPHENO:0086005", - "UBERON:0003466", - "UBERON:0010741", - "HP:0009821", - "HP:0005927", - "UPHENO:0049700", - "GO:0031327", - "HP:0002984", - "UPHENO:0085068", - "UBERON:0004708", - "UBERON:0006717", - "UPHENO:0001003", - "NCBITaxon:131567", - "UPHENO:0054261", - "HP:0001881", - "UPHENO:0076718", - "UPHENO:0069294", - "UPHENO:0080126", - "UPHENO:0081204", - "UPHENO:0086866", - "UPHENO:0003811", - "UBERON:0002102", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0076727", - "UBERON:1000021", - "UPHENO:0033559", - "UPHENO:0084763", - "HP:0001167", - "HP:0040064", - "UBERON:0006048", - "UBERON:0001245", - "UPHENO:0084448", - "UBERON:0004710", - "HP:0009824", - "UBERON:0010538", - "UPHENO:0072402", - "UPHENO:0019886", - "UPHENO:0084766", - "GO:0046483", - "UBERON:0015212", - "UPHENO:0086956", - "UPHENO:0076810", - "HP:0005773", - "CL:0000738", - "UPHENO:0082761", - "UPHENO:0010795", - "HP:0012733", - "UBERON:0003460", - "UPHENO:0087924", - "UBERON:0003607", - "UBERON:0001423", - "UBERON:0004456", - "HP:0045060", - "UPHENO:0086633", - "UBERON:0001460", - "GO:0040007", - "UPHENO:0087563", - "UBERON:0012140", - "HP:0100887", - "HP:0000152", - "UPHENO:0076799", - "HP:0000119", - "BFO:0000040", - "UBERON:0002090", - "UPHENO:0065599", - "GO:0031326", - "GO:0006259", - "UPHENO:0087510", - "UBERON:5002544", - "HP:0009726", - "UBERON:0001130", - "UBERON:0000465", - "BFO:0000004", - "UBERON:0008001", - "UBERON:0002204", - "UPHENO:0074584", - "UBERON:0001442", - "HP:0000001", - "UBERON:0006072", - "UPHENO:0087123", - "UBERON:0002085", - "HP:0001909", - "UBERON:0011249", - "UBERON:0006077", - "GO:0031052", - "UPHENO:0074572", - "UBERON:0002417", - "UPHENO:0002536", - "UPHENO:0076692", - "HP:0011017", - "NCBITaxon:33208", - "UPHENO:0050008", - "HP:0006496", - "UBERON:0001434", - "HP:0009778", - "UPHENO:0080187", - "UBERON:0013702", - "GO:0071840", - "HP:0002818", - "HP:0002813", - "HP:0011844", - "GO:0009892", - "GO:0010605", - "UBERON:0000974", - "BFO:0000002", - "HP:0012639", - "HP:0001876", - "HP:0000118", - "UBERON:0001007", - "UPHENO:0079876", - "HP:0000951", - "RO:0002577", - "UBERON:0000073", - "UBERON:0012139", - "HP:0005120", - "UPHENO:0012541", - "UPHENO:0088186", - "UBERON:0000075", - "UBERON:0010363", - "HP:0002977", - "HP:0001713", - "UBERON:0010913", - "UBERON:0005881", - "UBERON:0001062", - "UPHENO:0076941", - "UPHENO:0002764", - "UPHENO:0081451", - "UPHENO:0076724", - "UBERON:0034944", - "HP:0009121", - "HP:0005922", - "UBERON:0011216", - "UBERON:0005178", - "UPHENO:0087006", - "UPHENO:0085144", - "UBERON:0005174", - "UPHENO:0068971", - "UPHENO:0008668", - "UBERON:0002193", - "UBERON:0002412", - "HP:0007400", - "HP:0033127", - "HP:0000240", - "UPHENO:0086635", - "UBERON:0000948", - "UPHENO:0015324", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0018390", - "UBERON:0001444", - "UBERON:0002389", - "UPHENO:0087349", - "UBERON:0000468", - "UPHENO:0046538", - "UPHENO:0002635", - "BFO:0000001", - "HP:0040012", - "UPHENO:0022529", - "UBERON:0010707", - "HP:0100836", - "UBERON:0004120", - "UBERON:0015001", - "HP:0001155", - "UBERON:0004111", - "UPHENO:0080377", - "UBERON:0011137", - "UPHENO:0003074", - "UBERON:0015021", - "UBERON:0002386", - "UPHENO:0080209", - "UBERON:0000020", - "UPHENO:0076703", - "UPHENO:0075195", - "UBERON:0001084", - "UBERON:0013701", - "GO:0050789", - "UBERON:0000916", - "HP:0100542", - "UPHENO:0079872", - "UBERON:0010758", - "UBERON:0004247", - "UPHENO:0080099", - "CL:0000219", - "GO:0071704", - "UPHENO:0081313", - "UPHENO:0019890", - "UBERON:0002091", - "UPHENO:0020584", - "HP:0002817", - "UPHENO:0001001", - "GO:0044238", - "HP:0006501", - "UPHENO:0087907", - "UBERON:0000153", - "UPHENO:0049873", - "UPHENO:0086589", - "HP:0000470", - "UPHENO:0076791", - "UBERON:0001440", - "HP:0025668", - "UPHENO:0080079", - "HP:0007364", - "UPHENO:0001002", - "UBERON:0001137", - "UBERON:0000033", - "UPHENO:0046540", - "GO:0090304", - "UBERON:0000955", - "UBERON:0010703", - "GO:0009987", - "HP:0000953", - "UPHENO:0076740", - "UPHENO:0086863", - "UBERON:0005434", - "UBERON:0002529", - "CL:0000000", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002813", - "UPHENO:0001005", - "HP:0040195", - "UPHENO:0019888", - "UBERON:0012477", - "HP:0001172", - "UBERON:0011676", - "HP:0002973", - "UPHENO:0002803", - "UPHENO:0002934", - "UBERON:0005172", - "CL:0001035", - "UBERON:0003458", - "UBERON:0003103", - "UBERON:0034925", - "UBERON:0015007", - "UPHENO:0075655", - "UBERON:0011582", - "HP:0040072", - "UBERON:0010912", - "HP:0000925", - "CL:0000225", - "UPHENO:0086644", - "HP:0003319", - "UPHENO:0046505", - "UBERON:0000062", - "UPHENO:0026506", - "UPHENO:0082794", - "UBERON:0007811", - "UBERON:5002389", - "UPHENO:0086049", - "HP:0009815", - "UPHENO:0033572", - "GO:0010556", - "UBERON:0007272", - "UBERON:0010740", - "UPHENO:0081792", - "UBERON:0002428", - "UPHENO:0004459", - "HP:0011314", - "UBERON:0006058", - "GO:0048519", - "PR:000050567", - "HP:0001915", - "UPHENO:0081091", - "HP:0009826", - "UBERON:0000026", - "UBERON:0003606", - "UBERON:0002405", - "UBERON:0002101", - "UBERON:0002081", - "UBERON:0010712", - "UBERON:0019231", - "UPHENO:0002844", - "UBERON:0002470", - "UPHENO:0081790", - "CL:0000151", - "UBERON:0003037", - "UBERON:0035639", - "UPHENO:0025211", - "UBERON:0000061", - "UBERON:0004151", - "GO:1901360", - "HP:0009777", - "HP:0002488", - "HP:0003026", - "HP:0001671", - "UBERON:0010708", - "UBERON:0000019", - "UBERON:0010000", - "HP:0000316", - "HP:0011794", - "UBERON:0002390", - "UPHENO:0002880", - "UBERON:0012475", - "UPHENO:0085195", - "HP:0002667", - "HP:0002664", - "HP:0002023", - "HP:0006265", - "UPHENO:0078606", - "HP:0000234", - "HP:0000957", - "UBERON:0000481", - "UBERON:0001016", - "HP:0009115", - "UPHENO:0004523", - "NCBITaxon:1", - "UBERON:0001017", - "UBERON:0000475", - "UPHENO:0076702", - "UBERON:0002413", - "CL:0000988", - "NCBITaxon:33154", - "UBERON:0000970", - "UBERON:0001893", - "UBERON:0002082", - "UPHENO:0087501", - "GO:0006725", - "UBERON:0001890", - "UPHENO:0080200", - "UPHENO:0086172", - "UBERON:0000489", - "UBERON:0010323", - "UPHENO:0074575", - "UPHENO:0046707", - "UPHENO:0087472", - "HP:0000924", - "UBERON:0004121", - "UPHENO:0020888", - "GO:0008150", - "HP:0000252", - "UPHENO:0086855", - "UPHENO:0075220", - "HP:0002011", - "UPHENO:0075902", - "UPHENO:0015280", - "GO:0016043", - "UBERON:0001712", - "UBERON:0004451", - "UPHENO:0076805", - "UBERON:0000047", - "HP:0025461", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "UBERON:0002616", - "HP:0012443", - "HP:0004377", - "UPHENO:0002948", - "HP:0002715", - "CL:0000255", - "CL:0002242", - "UPHENO:0002832", - "HP:0032251", - "HP:0025354", - "HP:0001629", - "UBERON:0034923", - "HP:0001871", - "HP:0009601", - "HP:0002885", - "HP:0040070", - "HP:0100006", - "HP:0004375", - "HP:0001626", - "GO:0010629", - "HP:0001631", - "UBERON:0010314", - "HP:0001873", - "UBERON:0011584", - "UPHENO:0084987", - "UPHENO:0015303", - "UPHENO:0050113", - "UBERON:0002099", - "HP:0011994", - "UPHENO:0049874", - "UPHENO:0015329", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "HP:0000464", - "UBERON:0000915", - "UPHENO:0002833", - "UPHENO:0010763", - "UBERON:0005181", - "UBERON:0005944", - "UPHENO:0003020", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0015228", - "UPHENO:0080362", - "NCBITaxon:6072", - "UPHENO:0076776", - "UBERON:0001009", - "HP:0030680", - "GO:0009889", - "UBERON:0007100", - "HP:0011927", - "GO:0006325", - "UPHENO:0046411", - "UBERON:0004381", - "UPHENO:0011498", - "UPHENO:0046624", - "HP:0009381", - "UPHENO:0087427", - "UPHENO:0076779", - "UPHENO:0085344", - "UBERON:0004765", - "UPHENO:0053588", - "UPHENO:0063722", - "HP:0004808", - "UPHENO:0049367", - "UPHENO:0075997", - "UBERON:0002371", - "UBERON:0002471", - "UPHENO:0081755", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "HP:0000086", - "HP:0006503", - "UBERON:0002104", - "HP:0008056", - "UBERON:0010230", - "HP:0002060", - "HP:0012372", - "HP:0000315", - "UPHENO:0085189", - "UPHENO:0020041", - "HP:0000271", - "UBERON:0001474", - "CL:0000329", - "HP:0000125", - "UPHENO:0002910", - "HP:0000478", - "UBERON:0001456", - "UPHENO:0069523", - "UBERON:5001463", - "UPHENO:0021474", - "UBERON:0000025", - "UBERON:0004088", - "UPHENO:0075219", - "UPHENO:0077426", - "HP:0000568", - "CL:0000458", - "UPHENO:0054299", - "HP:0100547", - "HP:0001518", - "BFO:0000003", - "HP:0001507", - "UPHENO:0049587", - "BFO:0000015", - "UPHENO:0031839", - "HP:0004325", - "HP:0004323", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "HP:0012145", - "UPHENO:0081466", - "CL:0002092", - "HP:0020047", - "UPHENO:0087355", - "CL:0000457", - "UBERON:0000064", - "CL:0000081", - "CL:0000763", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "CL:0000233", - "UPHENO:0086854", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0085984", - "HP:0034915", - "UPHENO:0087339", - "UPHENO:0087089", - "CL:0000764", - "UBERON:0015410", - "UPHENO:0086173", - "UPHENO:0063565", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0084761", - "HP:0001872", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "HP:0000929", - "GO:0034641", - "UPHENO:0085070", - "GO:0065007", - "UBERON:0000479", - "UPHENO:0002896", - "GO:0043933", - "HP:0008678", - "GO:0006996", - "UPHENO:0050845", - "HP:0001939", - "HP:0000079", - "GO:0048523", - "GO:0060255", - "HP:0003220", - "GO:0043170", - "GO:0006139", - "UBERON:0002094", - "GO:0019222", - "GO:0050794", - "GO:0008152", - "GO:0071824", - "GO:0031324", - "GO:0009890", - "UBERON:0002075", - "GO:0031049", - "HP:0000707", - "UPHENO:0049748", - "UPHENO:0000541", - "GO:0010468", - "UBERON:0012180", - "HP:0003221", - "UPHENO:0050116", - "UPHENO:0050021", - "UPHENO:0050121", - "UPHENO:0049990", - ], - "has_phenotype_closure_label": [ - "skin of head", - "eyelid", - "increased length of the epicanthal fold", - "ocular adnexa", - "abnormal zone of skin morphology", - "abnormal skin of face morphology", - "Abnormal eyelid morphology", - "abnormal skin of head morphology", - "upper eyelid", - "Abnormal ocular adnexa morphology", - "epicanthal fold", - "abnormal ocular adnexa", - "Abnormality of the ocular adnexa", - "absent anatomical entity in the renal system", - "Renal agenesis", - "absent kidney", - "Horseshoe kidney", - "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", - "Abnormal ventricular septum morphology", - "interventricular septum", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal interventricular septum morphology", - "delayed biological_process", - "Postnatal growth retardation", - "anatomical line", - "immaterial anatomical entity", - "abnormal location of eyeball of camera-type eye", - "multi organ part structure", - "increased length of the anatomical line between pupils", - "Hypertelorism", - "increased anatomical entity length in independent continuant", - "Abnormality of globe location", - "tube", - "abnormal closing of the anatomical entity", - "Abnormality of the anus", - "digestive tract", - "anatomical entity atresia", - "abnormal integument", - "abnormal pigmentation in independent continuant", - "changed biological_process rate in independent continuant", - "absent kidney in the renal system", - "Hypermelanotic macule", - "Abnormality of skin morphology", - "abnormal skin of body", - "pigmentation", - "Macule", - "Abnormality of skin pigmentation", - "increased qualitatively biological_process", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "increased pigmentation in independent continuant", - "Localized skin lesion", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "integument", - "integumental system", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased biological_process in skin of body", - "increased biological_process", - "changed biological_process rate", - "limb long bone", - "zeugopodial skeleton", - "regional part of nervous system", - "abnormal genitourinary system", - "Neoplasm", - "excretory system", - "abnormal kidney", - "abnormal central nervous system morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "Embryonal renal neoplasm", - "Abnormality of the upper urinary tract", - "Abnormality of the eye", - "trunk region element", - "pectoral complex", - "acropodium region", - "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal immune system morphology", - "compound organ", - "eye", - "autopodial skeleton", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 1 morphology", - "Short thumb", - "absent anatomical entity", - "absent anatomical entity in the independent continuant", - "regulation of biosynthetic process", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", - "cellular process", - "Hematological neoplasm", - "Medulloblastoma", - "agenesis of anatomical entity", - "digit", - "abnormal digit morphology", - "skeleton of manus", - "abnormal digit", - "cellular organisms", - "thoracic segment of trunk", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "Absent thumb", - "abnormal autopod region morphology", - "aplastic anatomical entity", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "interatrial septum", - "abnormal manus", - "Nephroblastoma", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal appendicular skeleton morphology", - "manual digit", - "Abnormal eye morphology", - "Abnormal morphology of the radius", - "zone of skin", - "forelimb skeleton", - "genitourinary system", - "forelimb zeugopod", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal digestive system", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "paired limb/fin skeleton", - "arm", - "bone of appendage girdle complex", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "manual digit plus metapodial segment", - "macromolecule metabolic process", - "appendicular skeleton", - "Unilateral renal agenesis", - "upper limb segment", - "head or neck skin", - "abnormal forelimb zeugopod bone", - "lateral structure", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "aplasia or hypoplasia of skeleton", - "cardiac ventricle", - "abnormal craniocervical region", - "increased size of the anatomical entity", - "limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "cell", - "mesoderm-derived structure", - "Anal atresia", - "limb endochondral element", - "Short forearm", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "bone element hypoplasia in independent continuant", - "leukocyte", - "appendicular skeletal system", - "multi-limb segment region", - "Abnormality of head or neck", - "organism", - "irregular bone", - "postcranial axial skeleton", - "digit plus metapodial segment", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "anatomical collection", - "All", - "decreased size of the anatomical entity in the independent continuant", - "bone element", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal anatomical entity", - "cervical vertebra endochondral element", - "decreased length of neck", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "aplastic manual digit 1", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", - "independent continuant", - "abnormal leukocyte morphology", - "abnormal growth", - "Neoplasm by histology", - "endochondral element", - "abnormal neck", - "Abnormality of the neck", - "orifice", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "musculoskeletal system", - "abnormal cellular metabolic process", - "limb skeleton subdivision", - "skull", - "organ", - "abnormal cardiac septum morphology", - "occurrent", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "anatomical system", - "abnormal neck morphology", - "skeleton of limb", - "Abnormal forearm bone morphology", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "arm bone", - "increased pigmentation", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "entity", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "decreased length of anatomical entity", - "bone of pectoral complex", - "abnormal limb bone morphology", - "abnormal anatomical entity topology in independent continuant", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "thoracic segment organ", - "Abnormal cellular immune system morphology", - "skeletal element", - "zeugopod", - "U-shaped kidney", - "digit 1 or 5", - "dorsal part of neck", - "abnormal interatrial septum morphology", - "primary circulatory organ", - "Abnormal myeloid cell morphology", - "dorsum", - "cervical region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormal eyelid morphology", - "manus", - "subdivision of organism along main body axis", - "Neoplasm of the genitourinary tract", - "abnormal vertebral column", - "Abnormality of the vertebral column", - "bone of dorsum", - "bone marrow", - "Abnormal cardiac atrium morphology", - "abnormally decreased number of myeloid cell", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "vertebral column", - "telencephalon", - "abnormal opening of the anatomical entity", - "dorsal region element", - "Abnormality of skull size", - "body proper", - "organ system subdivision", - "erythrocyte", - "abnormal blood cell", - "absent digit", - "nucleobase-containing compound metabolic process", - "phenotype", - "Abnormal cell morphology", - "main body axis", - "abnormal kidney morphology", - "quality", - "abnormal forelimb zeugopod morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "appendage", - "root", - "Malignant neoplasm of the central nervous system", - "abnormally decreased number of hematopoietic cell", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Microphthalmia", - "material anatomical entity", - "renal system", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", - "abnormal renal system", - "Peripheral primitive neuroectodermal neoplasm", - "abnormal anus", - "Neuroectodermal neoplasm", - "skeletal system", - "abnormal cardiac ventricle morphology", - "motile cell", - "manual digit 1 plus metapodial segment", - "abdomen", - "aplasia or hypoplasia of manual digit 1", - "system", - "circulatory system", - "bone marrow cell", - "continuant", - "neck bone", - "entire sense organ system", - "abnormal craniocervical region morphology", - "cervical vertebra", - "abnormal telencephalon morphology", - "Embryonal neoplasm", - "skeleton", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "craniocervical region", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "Abnormal thumb morphology", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "subdivision of vertebral column", - "absent manual digit", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "Abnormal finger morphology", - "abnormal digestive system morphology", - "abnormal forelimb morphology", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "Abnormal hand morphology", - "Metazoa", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "zone of organ", - "tissue", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "endochondral bone", - "Aplasia/Hypoplasia of the radius", - "neck", - "abnormal size of anatomical entity", - "Upper limb undergrowth", - "Abnormality of thrombocytes", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormality of the hand", - "radius bone", - "abnormal DNA metabolic process", - "forelimb zeugopod bone hypoplasia", - "skin of eyelid", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "subdivision of organism along appendicular axis", - "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Abnormal neck morphology", - "negative regulation of gene expression", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "appendage girdle complex", - "subdivision of head", - "abnormal face", - "forelimb bone", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the pectoral complex", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "head", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "obsolete cellular aromatic compound metabolic process", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal limb bone", - "Abnormal nervous system morphology", - "sense organ", - "limb bone", - "Neuroblastoma", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "limb segment", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Nervous tissue neoplasm", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "Abnormality of limb bone morphology", - "manual digit 1", - "Decreased body weight", - "autopodial extension", - "regulation of metabolic process", - "regulation of cellular metabolic process", - "Abnormality of limbs", - "Abnormality of the kidney", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "blood cell", - "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "Renal neoplasm", - "Urinary tract neoplasm", - "abnormal anatomical entity morphology in the heart", - "Abnormal renal morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "abnormal nervous system", - "abnormal forebrain morphology", - "Neuroblastic tumor", - "multi-tissue structure", - "Aplastic anemia", - "abnormal nervous system morphology", - "Leukemia", - "abnormal cell morphology", - "abnormal anus morphology", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "anus", - "Abnormal skull morphology", - "abnormal anatomical entity morphology in the brain", - "Primitive neuroectodermal tumor", - "visual system", - "Decreased head circumference", - "cranial skeletal system", - "abnormal head morphology", - "Pancytopenia", - "abnormal head", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "Abnormality of limb bone", - "central nervous system", - "skin of face", - "regional part of brain", - "forelimb long bone", - "abnormal size of skull", - "forelimb", - "Abnormal forebrain morphology", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "aplasia or hypoplasia of eyeball of camera-type eye", - "sensory system", - "anus atresia", - "Short long bone", - "abnormal skull morphology", - "abnormal immune system", - "Acute leukemia", - "camera-type eye", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "hemolymphoid system", - "nucleate cell", - "Neuroepithelial neoplasm", - "non-connected functional system", - "Abnormal immune system morphology", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Acute myeloid leukemia", - "Short digit", - "Abnormality of the immune system", - "immune system", - "disconnected anatomical group", - "abnormal cell", - "abnormal hematopoietic system", - "Neoplasm of the central nervous system", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "Ectopic kidney", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal cardiovascular system morphology", - "heart plus pericardium", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "organ part", - "abnormal incomplete closing of the anatomical entity", - "biological_process", - "cardiac atrium", - "vertebral element", - "viscus", - "circulatory organ", - "Abnormal forearm morphology", - "vertebra", - "Small for gestational age", - "Abnormal heart morphology", - "abnormal cardiovascular system", - "paired limb/fin segment", - "septum", - "subdivision of skeleton", - "Abnormal cardiac septum morphology", - "aplasia or hypoplasia of radius bone", - "abnormal long bone morphology", - "abnormal heart morphology", - "abnormal incomplete closing of the interatrial septum", - "obsolete nitrogen compound metabolic process", - "abnormal cardiac atrium morphology", - "Short finger", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "cervical region of vertebral column", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "abnormally localised anatomical entity", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Abnormal anus morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "Abnormal localization of kidney", - "aplasia or hypoplasia of manual digit", - "cardiac chamber", - "face", - "abnormal orbital region", - "axial skeletal system", - "Growth abnormality", - "Pelvic kidney", - "abnormal pigmentation", - "heart", - "Abnormality of the head", - "organic substance metabolic process", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "abnormal renal system morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormality of the face", - "Abnormality of the orbital region", - "abnormal size of eyeball of camera-type eye", - "multicellular organism", - "Thrombocytopenia", - "regulation of macromolecule biosynthetic process", - "orbital region", - "abdominal segment of trunk", - "biological regulation", - "regulation of cellular biosynthetic process", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "decreased length of forelimb zeugopod bone", - "eyeball of camera-type eye", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "abnormality of anatomical entity mass", - "Short neck", - "Aplasia/Hypoplasia involving the central nervous system", - "decreased multicellular organism mass", - "Abnormal atrial septum morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormality of multicellular organism mass", - "Growth delay", - "kidney", - "abnormal biological_process", - "Decreased multicellular organism mass", - "abnormally decreased number of cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "myeloid cell", - "platelet", - "Abnormality of bone marrow cell morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "cardiac septum", - "anucleate cell", - "oxygen accumulating cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal myeloid cell morphology", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "cavitated compound organ", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "abnormal primary metabolic process", - "cellular component organization", - "obsolete cellular nitrogen compound metabolic process", - "postcranial axial skeletal system", - "organelle organization", - "negative regulation of biological process", - "regulation of cellular process", - "Chromosome breakage", - "abnormal chromatin organization", - "secretory cell", - "abnormal cellular process", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", - "regulation of gene expression", - "metabolic process", - "abnormal organelle organization", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal cellular component organization", - "protein-containing complex organization", - "nucleic acid metabolic process", - "abnormal limb", - "negative regulation of cellular process", - "shape kidney", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abnormal incomplete closing of the interventricular septum", - "regulation of macromolecule metabolic process", - "protein-DNA complex organization", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "material entity", - "long bone", - "negative regulation of biosynthetic process", - "abnormal metabolic process", - "digestive system", - "obsolete cell", - "decreased length of long bone", - "programmed DNA elimination", - ], - }, - { - "id": "MONDO:0013499", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], - "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", - "synonym": [ - "FANCP", - "Fanconi Anemia, complementation group type P", - "Fanconi anaemia caused by mutation in SLX4", - "Fanconi anaemia caused by mutation in Slx4", - "Fanconi anaemia complementation group type P", - "Fanconi anemia caused by mutation in SLX4", - "Fanconi anemia caused by mutation in Slx4", - "Fanconi anemia complementation group type P", - "Fanconi anemia, complementation group P", - "SLX4 Fanconi anaemia", - "SLX4 Fanconi anemia", - "Slx4 Fanconi anaemia", - "Slx4 Fanconi anemia", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002984", - "HP:0009777", - "HP:0000957", - "HP:0000252", - "HP:0001510", - "HP:0000581", - "HP:0001876", - "HP:0000347", - "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0002860", - "HP:0001045", - ], - "has_phenotype_label": [ - "Hypoplasia of the radius", - "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Growth delay", - "Blepharophimosis", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Squamous cell carcinoma", - "Vitiligo", - ], - "has_phenotype_count": 20, - "has_phenotype_closure": [ - "HP:0002860", - "HP:0008069", - "HP:0000086", - "UBERON:0005156", - "GO:0032504", - "HP:0012243", - "UPHENO:0050101", - "UPHENO:0078452", - "UBERON:0003101", - "UPHENO:0049701", - "UBERON:0004054", - "UBERON:0000473", - "UPHENO:0085873", - "UPHENO:0049367", - "UPHENO:0086198", - "GO:0022414", - "UBERON:0004176", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "HP:0000035", - "HP:0000078", - "UPHENO:0002371", - "UPHENO:0086201", - "UPHENO:0003055", - "HP:0000811", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0005016", - "UBERON:0000463", - "UPHENO:0078729", - "HP:0008669", - "CL:0000408", - "UPHENO:0085194", - "UPHENO:0049940", - "UPHENO:0052778", - "HP:0000032", - "UBERON:0001968", - "GO:0000003", - "UPHENO:0087802", - "GO:0019953", - "GO:0003006", - "GO:0048609", - "UPHENO:0002378", - "UPHENO:0049985", - "GO:0007283", - "GO:0007276", - "UPHENO:0049970", - "UPHENO:0002598", - "CL:0000586", - "GO:0048232", - "UPHENO:0087547", - "UPHENO:0052178", - "UPHENO:0050625", - "HP:0012874", - "UPHENO:0002332", - "HP:0000028", - "UPHENO:0052231", - "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", - "UBERON:0002105", - "UPHENO:0005433", - "UPHENO:0081424", - "UPHENO:0080351", - "UPHENO:0081423", - "UPHENO:0075159", - "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "GO:0010558", - "GO:0006325", - "UPHENO:0049700", - "GO:0031049", - "GO:0010556", - "GO:0009890", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0008152", - "HP:0000365", - "GO:0009987", - "GO:0050789", - "GO:0044238", - "HP:0031704", - "GO:0006807", - "UPHENO:0085875", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0046483", - "GO:0032501", - "UBERON:0013701", - "UBERON:0000073", - "GO:0034641", - "HP:0000929", - "HP:0009121", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0020888", - "GO:0043473", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0008523", - "UPHENO:0087518", - "NCBITaxon:1", - "UPHENO:0082682", - "GO:0060255", - "UBERON:0002097", - "UBERON:0002193", - "UBERON:0000004", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0054970", - "UBERON:0001016", - "HP:0001034", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0030791", - "UBERON:0007811", - "UPHENO:0026506", - "HP:0002977", - "UBERON:0010363", - "UBERON:0019221", - "NCBITaxon:2759", - "UBERON:5001463", - "UBERON:0002544", - "UPHENO:0002905", - "UBERON:0002199", - "HP:0000077", - "UPHENO:0076723", - "NCBITaxon:131567", - "UPHENO:0006910", - "UBERON:0003133", - "UBERON:5006048", - "UPHENO:0081435", - "HP:0000364", - "UPHENO:0021791", - "PATO:0000001", - "HP:0000234", - "UPHENO:0080114", - "HP:0011297", - "UBERON:0015001", - "HP:0001155", - "UPHENO:0080325", - "UBERON:0015203", - "UPHENO:0002642", - "UBERON:0012141", - "CL:0000738", - "UPHENO:0088116", - "UPHENO:0086700", - "NCBITaxon:33154", - "UBERON:0000970", - "UBERON:0004742", - "UPHENO:0026183", - "UPHENO:0002708", - "HP:0040068", - "UBERON:0005451", - "UBERON:0002416", - "UBERON:0012128", - "UPHENO:0053588", - "UPHENO:0002240", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0004053", - "UPHENO:0086005", - "UPHENO:0069254", - "UBERON:0003466", - "UBERON:0008785", - "UBERON:0010741", - "HP:0002692", - "UBERON:0004756", - "UBERON:0000062", - "UPHENO:0076702", - "UBERON:0000475", - "HP:0009821", - "UPHENO:0050008", - "HP:0006496", - "UBERON:0001434", - "UPHENO:0087973", - "HP:0004322", - "UPHENO:0075878", - "HP:0009778", - "HP:0005927", - "GO:0031327", - "HP:0002984", - "UPHENO:0046505", - "UPHENO:0041465", - "UPHENO:0001002", - "UBERON:0010708", - "UBERON:0000019", - "UPHENO:0080382", - "HP:0001000", - "UBERON:0000020", - "UBERON:0002386", - "HP:0001877", - "HP:0012733", - "UBERON:0003460", - "UPHENO:0080087", - "UBERON:0006717", - "UPHENO:0001003", - "HP:0100547", - "HP:0002011", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0002833", - "UPHENO:0078606", - "HP:0006265", - "GO:0071704", - "UBERON:0011159", - "HP:0000153", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0018390", - "UBERON:0001444", - "UPHENO:0088162", - "UBERON:0004710", - "UPHENO:0084448", - "UBERON:0011249", - "GO:0044237", - "UPHENO:0088166", - "HP:0007364", - "UPHENO:0080079", - "HP:0011844", - "GO:0009892", - "RO:0002577", - "HP:0000951", - "UPHENO:0002828", - "UPHENO:0084457", - "UPHENO:0009382", - "UPHENO:0080300", - "UBERON:0000153", - "UPHENO:0084766", - "UBERON:0015212", - "BFO:0000040", - "UBERON:0001442", - "UPHENO:0074584", - "UBERON:0012140", - "CL:0001035", - "UPHENO:0086633", - "UBERON:0011156", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0000957", - "UBERON:0000481", - "UBERON:0013702", - "UPHENO:0080187", - "UBERON:0003113", - "BFO:0000004", - "HP:0001574", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0080352", - "UBERON:0000075", - "UBERON:0000955", - "UBERON:0010703", - "HP:0000436", - "HP:0000025", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "UPHENO:0081204", - "UBERON:0001017", - "HP:0000002", - "HP:0000953", - "UPHENO:0076740", - "UBERON:0002514", - "UBERON:0012139", - "UPHENO:0012541", - "HP:0009601", - "UBERON:0003607", - "HP:0011961", - "GO:0043170", - "HP:0010938", - "HP:0008050", - "CL:0000151", - "HP:0001045", - "HP:0040070", - "UBERON:0002513", - "UBERON:0011138", - "GO:0031323", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0001711", - "UPHENO:0053298", - "UBERON:0000165", - "UPHENO:0076703", - "HP:0033127", - "HP:0007400", - "UBERON:0006048", - "UBERON:5002544", - "UPHENO:0087510", - "BFO:0000002", - "HP:0012639", - "UPHENO:0081790", - "UPHENO:0084763", - "UBERON:0007272", - "UPHENO:0031839", - "HP:0011314", - "UPHENO:0012274", - "UPHENO:0085118", - "UBERON:0002113", - "HP:0011121", - "HP:0000027", - "UPHENO:0069294", - "CL:0000019", - "HP:0003026", - "UPHENO:0085068", - "UBERON:0004708", - "UPHENO:0050108", - "HP:0000414", - "UPHENO:0075195", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002389", - "UBERON:0000468", - "UPHENO:0046538", - "UPHENO:0087349", - "UBERON:0002101", - "UPHENO:0021517", - "HP:0000001", - "UPHENO:0087950", - "UPHENO:0081313", - "UPHENO:0087006", - "UPHENO:0085144", - "GO:0007600", - "UPHENO:0041075", - "UPHENO:0076791", - "UPHENO:0086589", - "HP:0002817", - "UPHENO:0001001", - "UPHENO:0059829", - "UPHENO:0087846", - "UBERON:0001555", - "HP:0006501", - "UPHENO:0003811", - "UBERON:0002102", - "UPHENO:0080662", - "HP:0009777", - "UBERON:0004921", - "UBERON:0004120", - "HP:0040064", - "HP:0001167", - "HP:0040012", - "UPHENO:0022529", - "UBERON:0010707", - "UBERON:0005881", - "UBERON:0001062", - "HP:0001873", - "UBERON:0010314", - "HP:0005922", - "UBERON:0004175", - "UBERON:0011216", - "BFO:0000141", - "UPHENO:0085874", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0002536", - "HP:0011017", - "NCBITaxon:33208", - "UBERON:0013765", - "HP:0001876", - "HP:0000118", - "GO:1901360", - "UBERON:0000061", - "UBERON:0035639", - "UBERON:0001890", - "HP:0045060", - "BFO:0000001", - "UPHENO:0002635", - "HP:0000080", - "UBERON:0010712", - "UBERON:0000026", - "HP:0009826", - "UPHENO:0081755", - "UBERON:0002471", - "UPHENO:0075198", - "UBERON:0002529", - "UBERON:0001423", - "UBERON:0004456", - "UPHENO:0074589", - "UPHENO:0076727", - "UBERON:0002428", - "UPHENO:0054957", - "UPHENO:0086956", - "UPHENO:0021561", - "UBERON:0002405", - "UBERON:0003606", - "HP:0009115", - "UPHENO:0004523", - "UBERON:0010758", - "UPHENO:0079872", - "UBERON:0002495", - "UBERON:0003278", - "UPHENO:0002751", - "UPHENO:0002880", - "UBERON:0012475", - "UPHENO:0085195", - "UBERON:0010000", - "UPHENO:0054577", - "UBERON:0002390", - "UPHENO:0082444", - "UBERON:0002204", - "UBERON:0000465", - "UBERON:0001440", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0040195", - "GO:0090304", - "UPHENO:0046540", - "UBERON:0001893", - "HP:0005773", - "HP:0000366", - "UPHENO:0080126", - "HP:0002060", - "CL:0000988", - "UPHENO:0005651", - "UPHENO:0076718", - "HP:0000924", - "UBERON:0004121", - "UPHENO:0088170", - "UPHENO:0081792", - "UBERON:0010740", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0001460", - "GO:0040007", - "UBERON:0002091", - "UPHENO:0081314", - "UPHENO:0020584", - "GO:0003008", - "UBERON:0010538", - "HP:0009824", - "UBERON:0034925", - "UBERON:0000991", - "UBERON:0005944", - "UPHENO:0004459", - "HP:0001903", - "UBERON:0011582", - "HP:0040072", - "UBERON:0010912", - "CL:0000225", - "UBERON:0002090", - "UPHENO:0083646", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0086172", - "HP:0000152", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0080377", - "UBERON:0004111", - "UBERON:0011137", - "UPHENO:0087472", - "UPHENO:0074575", - "UPHENO:0046707", - "UPHENO:0003085", - "UBERON:0000033", - "HP:0000252", - "NCBITaxon:6072", - "UBERON:0000047", - "HP:0025461", - "HP:0000812", - "UPHENO:0086635", - "HP:0000240", - "UBERON:0012354", - "BFO:0000020", - "UPHENO:0081566", - "UBERON:0002616", - "UPHENO:0026181", - "UBERON:0001032", - "UPHENO:0002964", - "HP:0012443", - "HP:0001507", - "UPHENO:0086023", - "HP:0001510", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0001456", - "HP:0005105", - "UPHENO:0000543", - "UPHENO:0049874", - "HP:0030669", - "HP:0006503", - "UBERON:0002104", - "UBERON:0003462", - "UBERON:0034921", - "UBERON:0011584", - "UPHENO:0084987", - "HP:0032039", - "UBERON:0001819", - "UPHENO:0080200", - "HP:0200007", - "HP:0000315", - "UPHENO:0085189", - "HP:0045025", - "UPHENO:0041821", - "UPHENO:0020041", - "HP:0000271", - "UBERON:0001474", - "CL:0000329", - "HP:0000125", - "UPHENO:0002910", - "HP:0010461", - "UPHENO:0054567", - "HP:0012745", - "HP:0000492", - "UPHENO:0075220", - "UPHENO:0086595", - "UPHENO:0046753", - "UBERON:0003103", - "UPHENO:0034770", - "HP:0001939", - "UPHENO:0050845", - "UBERON:0034923", - "UBERON:0000161", - "UPHENO:0084761", - "HP:0001872", - "UPHENO:0076761", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "HP:0012145", - "UPHENO:0002903", - "UPHENO:0081466", - "CL:0002092", - "HP:0020047", - "UPHENO:0020950", - "HP:0000581", - "UPHENO:0085344", - "UPHENO:0076779", - "UPHENO:0087123", - "UPHENO:0081788", - "UPHENO:0087355", - "CL:0000457", - "UBERON:0000064", - "CL:0000081", - "CL:0000763", - "HP:0031816", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "CL:0000233", - "UBERON:0013522", - "UBERON:0001710", - "UBERON:0019231", - "UBERON:0010364", - "UPHENO:0002948", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0085984", - "UPHENO:0063722", - "HP:0001881", - "GO:0016043", - "UPHENO:0015280", - "UPHENO:0075902", - "UPHENO:0087339", - "CL:0000458", - "UPHENO:0087089", - "CL:0000764", - "HP:0002715", - "UBERON:0001690", - "UPHENO:0086173", - "UPHENO:0077426", - "CL:0000255", - "UPHENO:0080099", - "CL:0000219", - "CL:0002242", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0032502", - "UPHENO:0002832", - "HP:0032251", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0075997", - "UBERON:0002371", - "CL:0000000", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "UPHENO:0085070", - "HP:0025354", - "UBERON:0000079", - "HP:0001871", - "UBERON:0000479", - "UPHENO:0079876", - "UBERON:0001007", - "HP:0025031", - "HP:0000347", - "UPHENO:0076803", - "HP:0009122", - "UPHENO:0081091", - "UPHENO:0080165", - "UBERON:0010313", - "CL:0000015", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0011595", - "HP:0011793", - "UBERON:0003135", - "HP:0009116", - "HP:0025033", - "UBERON:0004768", - "UPHENO:0081141", - "UBERON:0001684", - "UBERON:0015021", - "UBERON:0001708", - "UPHENO:0002896", - "GO:0043933", - "UBERON:0011158", - "HP:0034261", - "GO:0006725", - "UPHENO:0087501", - "UPHENO:0076800", - "UPHENO:0076692", - "UPHENO:0069249", - "UBERON:0012360", - "HP:0009118", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0000277", - "UPHENO:0046411", - "HP:0002664", - "UPHENO:0053644", - "UBERON:0007842", - "UPHENO:0087924", - "UBERON:0007914", - "HP:0011821", - "UBERON:0004088", - "UBERON:0000025", - "UPHENO:0081786", - "UBERON:0003457", - "GO:0050877", - "HP:0011927", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "HP:0009381", - "UBERON:0000466", - "UPHENO:0076805", - "UPHENO:0088168", - "UBERON:0002470", - "UBERON:0007827", - "OBI:0100026", - "UPHENO:0001072", - "UPHENO:0087907", - "UBERON:0034929", - "GO:0008150", - "UBERON:0006983", - "UBERON:0002268", - "GO:0031326", - "UPHENO:0065599", - "UPHENO:0084727", - "UPHENO:0087430", - "UPHENO:0084715", - "CL:0000300", - "HP:0012130", - "UPHENO:0041629", - "UBERON:0011143", - "UBERON:0005177", - "UBERON:0001008", - "UPHENO:0087427", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0041226", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0005173", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "UBERON:8450002", - "HP:0000085", - "UBERON:0001463", - "UBERON:0008962", - "UBERON:0008907", - "HP:0012210", - "GO:0006996", - "HP:0000079", - "GO:0048523", - "GO:0009889", - "HP:0003220", - "UPHENO:0050113", - ], - "has_phenotype_closure_label": [ - "Neoplasm of the skin", - "Pelvic kidney", - "Ectopic kidney", - "Abnormal reproductive system morphology", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "absent germ cell", - "external male genitalia", - "testis", - "Azoospermia", - "male gamete generation", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male germ cell", - "male gamete", - "Abnormal testis morphology", - "semen", - "reproduction", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormal external genitalia", - "reproductive process", - "abnormally localised anatomical entity in independent continuant", - "abnormal internal genitalia", - "external genitalia", - "internal genitalia", - "gonad", - "haploid cell", - "reproductive system", - "organism substance", - "abnormal gamete", - "sperm", - "abnormal location of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "absent gamete", - "germ cell", - "gamete", - "reproductive structure", - "decreased qualitatively developmental process", - "abnormal reproductive system morphology", - "decreased spermatogenesis", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "spermatogenesis", - "decreased developmental process", - "abnormal testis morphology", - "Cryptorchidism", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormality of reproductive system physiology", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", - "ear", - "abnormal developmental process", - "sensory perception", - "system process", - "multicellular organismal process", - "abnormality of anatomical entity physiology", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "abnormal size of multicellular organism", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "abnormal reproductive process", - "regulation of macromolecule metabolic process", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "organism", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Decreased head circumference", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "visual system", - "Abnormal skull morphology", - "Abnormal cellular immune system morphology", - "Abnormal cerebral morphology", - "arm bone", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "forebrain", - "regional part of nervous system", - "Narrow palpebral fissure", - "renal system", - "multi-tissue structure", - "main body axis", - "abnormal kidney morphology", - "craniocervical region", - "root", - "appendage", - "abnormal nervous system", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "pigmentation", - "abnormal integument", - "Abnormality of skin pigmentation", - "skeleton of limb", - "aplasia or hypoplasia of skull", - "neural crest-derived structure", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "increased qualitatively biological_process in independent continuant", - "absent sperm", - "limb segment", - "biological_process", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", - "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "gamete generation", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal immune system morphology", - "Abnormal myeloid cell morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", - "agenesis of anatomical entity", - "telencephalon", - "digit", - "Hyperpigmentation of the skin", - "skeleton of manus", - "obsolete multicellular organism reproduction", - "cellular organisms", - "abnormal manus morphology", - "Absent thumb", - "abnormal autopod region morphology", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "Neoplasm", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "abnormal size of anatomical entity", - "abnormal phenotype by ontology source", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "abnormal cellular metabolic process", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "paired limb/fin", - "Hypoplasia of the radius", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", - "abnormal multicellular organismal reproductive process", - "manual digit", - "U-shaped anatomical entity", - "abnormal central nervous system morphology", - "abnormal reproductive system", - "abnormal kidney", - "Aplasia/Hypoplasia of the radius", - "subdivision of skeleton", - "endochondral bone", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "quality", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "anatomical system", - "lateral structure", - "abnormal limb bone morphology", - "entity", - "subdivision of skeletal system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "absent manual digit", - "decreased size of the mandible", - "organ system subdivision", - "decreased length of palpebral fissure", - "erythrocyte", - "abnormal blood cell", - "abnormal radius bone morphology", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "body proper", - "regulation of gene expression", - "pectoral appendage", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", - "skeletal system", - "motile cell", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal face", - "zeugopod", - "skeletal element", - "abnormal anatomical entity morphology in the pectoral complex", - "upper limb segment", - "appendicular skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "organism subdivision", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "radius bone hypoplasia", - "subdivision of organism along appendicular axis", - "manual digit plus metapodial segment", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "dermatocranium", - "pectoral complex", - "trunk region element", - "radius endochondral element", - "material anatomical entity", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "Squamous cell carcinoma", - "mesoderm-derived structure", - "abnormality of ear physiology", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "hematopoietic system", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "endochondral element", - "multi-limb segment region", - "appendicular skeletal system", - "system", - "bone marrow cell", - "Aplasia/hypoplasia involving bones of the hand", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "decreased qualitatively biological_process", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal craniocervical region morphology", - "continuant", - "absent sperm in the semen", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "Abnormality of the ocular adnexa", - "abnormally localised anatomical entity", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "skeleton", - "increased size of the anatomical entity", - "limb", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "abnormal nervous system morphology", - "abnormal cell morphology", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", - "Abnormality of the genitourinary system", - "blood cell", - "head bone", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "forelimb zeugopod skeleton", - "facial skeleton", - "bone of appendage girdle complex", - "aplastic manual digit 1", - "dentary", - "segment of autopod", - "organic cyclic compound metabolic process", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "arm", - "abnormal nose morphology", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", - "postcranial axial skeletal system", - "abnormal digit morphology", - "skeleton of lower jaw", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "eye", - "compound organ", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal mouth", - "forelimb zeugopod", - "cranial skeletal system", - "Abnormality of head or neck", - "abnormal head morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "postcranial axial skeleton", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "tissue", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb long bone", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "forelimb", - "Abnormal forebrain morphology", - "abnormal limb morphology", - "anatomical conduit", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "sensory system", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "axial skeletal system", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Abnormal localization of kidney", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "kidney", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "delayed growth", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "Abnormality of the face", - "multi organ part structure", - "hemolymphoid system", - "organ part", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormality of the orbital region", - "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "orbital region", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal bone of pectoral complex morphology", - "orifice", - "ocular adnexa", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal immune system", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "sensory perception of mechanical stimulus", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", - "obsolete cell", - "decreased length of long bone", - "digestive system", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal hematopoietic system morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "regulation of macromolecule biosynthetic process", - "multicellular organism", - "Thrombocytopenia", - "Abnormality of the immune system", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cavitated compound organ", - "Abnormal leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "abnormal hematopoietic system", - "digit 1", - "abnormal platelet morphology", - "aplasia or hypoplasia of mandible", - "nucleobase-containing compound metabolic process", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "subdivision of tube", - "Aplasia/Hypoplasia involving bones of the skull", - "mouth", - "abnormal mandible morphology", - "anatomical entity hypoplasia in face", - "abnormal jaw skeleton morphology", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", - "abnormal male reproductive system", - "abnormal mouth morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "Abnormality of body height", - "tube", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal digit", - "lower jaw region", - "abnormal primary metabolic process", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the genital system", - "intramembranous bone", - "structure with developmental contribution from neural crest", - "bone of craniocervical region", - "abnormal head bone morphology", - "abnormal manus", - "bone element hypoplasia in face", - "Short finger", - "anterior region of body", - "decreased length of manual digit 1", - "Short digit", - "Abnormal nasal tip morphology", - "Abnormal external nose morphology", - "anatomical point", - "olfactory organ", - "Abnormality of the nose", - "entire sense organ system", - "abnormal external nose morphology", - "immaterial anatomical entity", - "nose", - "aplastic anatomical entity", - "Bulbous nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "abnormal erythrocyte morphology", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "3-D shape anatomical entity", - "abnormal renal system", - "concave 3-D shape anatomical entity", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "excretory system", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "upper urinary tract", - "Abnormality of the kidney", - "Horseshoe kidney", - "abnormal renal system morphology", - "developmental process", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "shape kidney", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "abnormal pigmentation", - "Abnormality of the head", - "organic substance metabolic process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "cellular component organization", - ], - }, - { - "id": "MONDO:0014986", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", - "xref": ["DOID:0111090", "GARD:16214", "OMIM:617244", "UMLS:C4284093"], - "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.", - "synonym": [ - "FANCR", - "Fanconi Anemia, complementation group R", - "Fanconi Anemia, complementation group type R", - "Fanconi anaemia caused by mutation in RAD51", - "Fanconi anaemia complementation group type R", - "Fanconi anemia caused by mutation in RAD51", - "Fanconi anemia complementation group type R", - "Fanconi anemia, complementation GROUP R", - "RAD51 Fanconi anaemia", - "RAD51 Fanconi anemia", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001249", - "HP:0009777", - "HP:0000238", - "HP:0006433", - "HP:0002650", - "HP:0002023", - "HP:0000252", - "HP:0001510", - "HP:0006349", - "HP:0000125", - "HP:0005528", - "HP:0000568", - "HP:0007099", - "HP:0001903", - "HP:0003221", - "HP:0031936", - "HP:0002144", - "HP:0003764", - ], - "has_phenotype_label": [ - "Intellectual disability", - "Absent thumb", - "Hydrocephalus", - "Radial dysplasia", - "Scoliosis", - "Anal atresia", - "Microcephaly", - "Growth delay", - "Agenesis of permanent teeth", - "Pelvic kidney", - "Bone marrow hypocellularity", - "Microphthalmia", - "Chiari type I malformation", - "Anemia", - "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Nevus", - ], - "has_phenotype_count": 18, - "has_phenotype_closure": [ - "HP:0011121", - "UPHENO:0002635", - "UBERON:0002416", - "HP:0001574", - "HP:0002144", - "UBERON:0002240", - "UBERON:0005174", - "HP:0012758", - "HP:0001270", - "HP:0002194", - "GO:0005623", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "GO:0010468", - "GO:0031327", - "GO:0006325", - "UPHENO:0049748", - "GO:0031049", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "GO:0008152", - "GO:0071704", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0043170", - "UPHENO:0050113", - "HP:0003220", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "HP:0001939", - "GO:0006996", - "GO:0043933", - "UPHENO:0050845", - "UPHENO:0088162", - "CL:0000764", - "CL:0000232", - "CL:0000081", - "HP:0012130", - "HP:0011282", - "UPHENO:0072814", - "UPHENO:0071309", - "HP:0001317", - "UPHENO:0020013", - "UBERON:0004732", - "UPHENO:0081601", - "HP:0007099", - "UBERON:0000063", - "HP:0002438", - "HP:0000568", - "UPHENO:0075219", - "UBERON:0004088", - "UPHENO:0021474", - "UPHENO:0069523", - "UPHENO:0068971", - "HP:0000478", - "HP:0000315", - "HP:0012372", - "HP:0008056", - "UPHENO:0012541", - "HP:0005528", - "HP:0001871", - "UBERON:0034923", - "HP:0025354", - "CL:0000000", - "HP:0002715", - "UPHENO:0087339", - "UPHENO:0002948", - "UPHENO:0087355", - "UPHENO:0087123", - "HP:0020047", - "CL:0002092", - "HP:0012145", - "UPHENO:0087858", - "HP:0012210", - "UBERON:0003103", - "UPHENO:0081755", - "UBERON:0002371", - "UPHENO:0049367", - "UBERON:8450002", - "GO:0031052", - "UBERON:0000489", - "UBERON:0005173", - "UBERON:0002417", - "UBERON:0004122", - "HP:0010935", - "UBERON:0000916", - "HP:0100542", - "UBERON:0009569", - "UBERON:0001008", - "UBERON:0005177", - "UPHENO:0085118", - "UBERON:0002113", - "UPHENO:0053580", - "UBERON:0011143", - "UPHENO:0075902", - "CL:0000763", - "HP:0031816", - "HP:0000164", - "UBERON:0007774", - "GO:0034641", - "UPHENO:0011564", - "UBERON:0000167", - "UBERON:0003913", - "UPHENO:0076800", - "UPHENO:0002910", - "UPHENO:0003020", - "UBERON:0002553", - "CL:0000329", - "HP:0000271", - "UBERON:0004921", - "HP:0000086", - "UBERON:0003672", - "UBERON:0001091", - "HP:0011044", - "HP:0000951", - "UPHENO:0002828", - "UBERON:0000466", - "GO:0065007", - "UPHENO:0081526", - "UPHENO:0049874", - "UBERON:0013522", - "UPHENO:0000543", - "UBERON:0001456", - "UPHENO:0000541", - "HP:0001510", - "HP:0001507", - "HP:0002308", - "UPHENO:0081566", - "HP:0000240", - "UPHENO:0075220", - "NCBITaxon:6072", - "UPHENO:0002764", - "HP:0000252", - "UBERON:0001137", - "UBERON:0000033", - "UPHENO:0087472", - "UBERON:0010323", - "UPHENO:0087907", - "HP:0000119", - "HP:0000152", - "UPHENO:0080200", - "UBERON:0001890", - "GO:0006725", - "UBERON:0001893", - "UBERON:0000970", - "NCBITaxon:33154", - "CL:0000988", - "HP:0002060", - "GO:0050789", - "UBERON:0013701", - "UBERON:0002616", - "NCBITaxon:1", - "UPHENO:0075195", - "UBERON:0001032", - "UBERON:0000481", - "UBERON:0007811", - "UPHENO:0076739", - "HP:0007364", - "HP:0000234", - "UBERON:0004375", - "UPHENO:0020584", - "UBERON:0002091", - "UBERON:0013702", - "HP:0002813", - "UPHENO:0084763", - "UPHENO:0076779", - "UPHENO:0088185", - "UBERON:0007779", - "HP:0000924", - "UBERON:5002389", - "BFO:0000003", - "GO:0010556", - "UBERON:0000165", - "PR:000050567", - "UBERON:0002204", - "UPHENO:0020041", - "UBERON:0010538", - "UBERON:0005358", - "UBERON:0003606", - "UBERON:0002529", - "UBERON:0002199", - "UBERON:0002193", - "UPHENO:0018390", - "UPHENO:0008668", - "UBERON:0010712", - "GO:1901360", - "BFO:0000141", - "UPHENO:0002830", - "HP:0100547", - "UPHENO:0002880", - "HP:0040070", - "UBERON:0002471", - "HP:0000077", - "UPHENO:0002905", - "UPHENO:0084448", - "UBERON:0004710", - "UBERON:0011582", - "OBI:0100026", - "UPHENO:0087518", - "UPHENO:0008523", - "HP:0000125", - "HP:0002817", - "UPHENO:0086172", - "HP:0000707", - "HP:0009601", - "UPHENO:0084928", - "UBERON:0003607", - "UBERON:0006058", - "UBERON:0002405", - "UBERON:0011584", - "UBERON:0000026", - "UPHENO:0049587", - "UPHENO:0002844", - "UBERON:0019231", - "UPHENO:0003811", - "UPHENO:0081598", - "HP:0011297", - "UPHENO:0049700", - "UPHENO:0011589", - "HP:0005927", - "HP:0009777", - "HP:0001155", - "UBERON:0011137", - "NCBITaxon:131567", - "UPHENO:0076723", - "UPHENO:0085144", - "UBERON:0004288", - "UBERON:0015203", - "UPHENO:0002642", - "UPHENO:0080325", - "HP:0011355", - "UBERON:0001359", - "UPHENO:0076727", - "HP:0000153", - "UPHENO:0063844", - "HP:0006265", - "UPHENO:0087089", - "GO:0044237", - "HP:0002977", - "UBERON:0010363", - "HP:0012638", - "UBERON:0011249", - "UPHENO:0076957", - "UBERON:0011216", - "HP:0009804", - "HP:0005922", - "HP:0002143", - "UBERON:0010230", - "GO:0050877", - "HP:0034915", - "HP:0045060", - "NCBITaxon:33208", - "UPHENO:0076692", - "UPHENO:0002536", - "UPHENO:0002832", - "UPHENO:0002803", - "UPHENO:0086633", - "UBERON:0011676", - "HP:0011446", - "HP:0000118", - "HP:0040195", - "UPHENO:0001005", - "UPHENO:0074228", - "GO:0006807", - "UPHENO:0006910", - "UBERON:0007272", - "UPHENO:0002964", - "UBERON:0002101", - "UBERON:0010707", - "HP:0001167", - "HP:0040064", - "UBERON:0004120", - "HP:0010674", - "UPHENO:0002839", - "UPHENO:0002708", - "HP:0011017", - "UBERON:0012141", - "GO:0044238", - "UPHENO:0088170", - "UPHENO:0001001", - "UBERON:0000464", - "UPHENO:0086589", - "UPHENO:0076791", - "UBERON:0005881", - "HP:0003330", - "UBERON:0005451", - "UBERON:0004111", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0087427", - "UPHENO:0002332", - "UPHENO:0084761", - "UPHENO:0047419", - "UBERON:0000019", - "UBERON:0010708", - "GO:0050890", - "BFO:0000001", - "UPHENO:0086700", - "HP:0100543", - "UPHENO:0081435", - "UBERON:5006048", - "PATO:0000001", - "UPHENO:0026028", - "BFO:0000015", - "UBERON:0002097", - "HP:0006349", - "HP:0012759", - "UBERON:0002398", - "UBERON:0000468", - "HP:0001877", - "UBERON:0001463", - "UPHENO:0085195", - "UBERON:0012475", - "UBERON:0002390", - "UBERON:0010000", - "HP:0011283", - "UPHENO:0075997", - "UPHENO:0020888", - "GO:0008150", - "UBERON:0015212", - "GO:0046483", - "UPHENO:0084766", - "UPHENO:0049873", - "HP:0005561", - "UBERON:0000153", - "UPHENO:0002896", - "BFO:0000040", - "GO:0071840", - "UPHENO:0026181", - "UBERON:0001440", - "GO:0003008", - "HP:0002921", - "UBERON:0010314", - "UBERON:0001062", - "GO:0006259", - "UPHENO:0076720", - "UBERON:0002100", - "UBERON:0001474", - "UPHENO:0082875", - "UBERON:0001444", - "HP:0011842", - "UPHENO:0075696", - "UBERON:0002470", - "UPHENO:0076724", - "UBERON:0000061", - "UBERON:0001016", - "UPHENO:0076740", - "UBERON:0001017", - "UPHENO:0076703", - "GO:0090304", - "UPHENO:0015280", - "UBERON:0000479", - "UPHENO:0035025", - "UBERON:0001007", - "HP:0040012", - "UPHENO:0071344", - "UBERON:0004765", - "UBERON:0000467", - "UPHENO:0081466", - "UBERON:0006314", - "UPHENO:0053588", - "UPHENO:0063722", - "UPHENO:0063599", - "BFO:0000004", - "UBERON:0002544", - "UPHENO:0004523", - "UPHENO:0056237", - "UBERON:0010758", - "UPHENO:0004459", - "UBERON:0002428", - "HP:0000001", - "UBERON:0001442", - "HP:0100887", - "UBERON:0012140", - "CL:0001035", - "UBERON:0005172", - "HP:0002973", - "UPHENO:0080209", - "UBERON:0004923", - "UBERON:0012354", - "UBERON:0000020", - "HP:0040072", - "UPHENO:0080099", - "UBERON:0003129", - "UBERON:0015061", - "HP:0001249", - "UPHENO:0002833", - "UBERON:0002037", - "HP:0001172", - "HP:0002650", - "UPHENO:0079876", - "UPHENO:0086932", - "UBERON:5002544", - "UBERON:0000465", - "UBERON:0001130", - "UPHENO:0001003", - "UBERON:0006717", - "UBERON:0002495", - "UBERON:0002102", - "UPHENO:0076799", - "UPHENO:0080126", - "UPHENO:0087006", - "HP:0000163", - "UPHENO:0002433", - "UBERON:0003947", - "NCBITaxon:2759", - "UBERON:0002389", - "UBERON:0001895", - "UPHENO:0002826", - "UBERON:0010740", - "UBERON:0004121", - "GO:0040007", - "UBERON:0001460", - "HP:0003764", - "UBERON:0019221", - "UPHENO:0011498", - "GO:0032501", - "UPHENO:0026506", - "HP:0001903", - "UBERON:0005944", - "UBERON:0034925", - "UBERON:0004708", - "HP:0009815", - "UBERON:0000075", - "UBERON:0001434", - "HP:0006496", - "UPHENO:0014240", - "UBERON:0000060", - "HP:0009115", - "GO:0010605", - "GO:0009892", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0087501", - "HP:0009380", - "UBERON:0000475", - "UBERON:0000062", - "UPHENO:0085068", - "UPHENO:0009382", - "UBERON:5001463", - "HP:0000238", - "UPHENO:0076803", - "GO:0010558", - "UBERON:0008785", - "UBERON:0012139", - "UPHENO:0056212", - "UPHENO:0078606", - "HP:0002664", - "UBERON:0000064", - "UPHENO:0035147", - "UBERON:0005282", - "HP:0000929", - "UBERON:0000073", - "RO:0002577", - "UBERON:0000955", - "UBERON:0005281", - "UPHENO:0088047", - "UPHENO:0076702", - "GO:0016043", - "HP:0002011", - "UBERON:0000047", - "HP:0025461", - "UPHENO:0076805", - "UBERON:0004086", - "UPHENO:0047299", - "GO:0031323", - "HP:0000079", - "UBERON:0002513", - "UBERON:0011138", - "HP:0040068", - "UPHENO:0026183", - "UPHENO:0056072", - "UBERON:0002028", - "BFO:0000002", - "HP:0012639", - "HP:0031938", - "UBERON:0000463", - "HP:0025031", - "UBERON:0000161", - "UBERON:0002104", - "HP:0002118", - "UBERON:0004733", - "UPHENO:0056333", - "HP:0012443", - "UBERON:0002386", - "UBERON:0015021", - "GO:0009987", - "UBERON:0010703", - "UPHENO:0079872", - "UPHENO:0002751", - "BFO:0000020", - "UBERON:0001555", - "UPHENO:0080114", - "UBERON:0015001", - "UBERON:0004456", - "UBERON:0001423", - "UPHENO:0087924", - "UPHENO:0001002", - "UBERON:0003460", - "UPHENO:0086956", - "UBERON:0006048", - "UPHENO:0087510", - "UBERON:0004381", - "UBERON:0008962", - "HP:0004378", - "HP:0031936", - "GO:0048519", - "HP:0011314", - "UPHENO:0086644", - "UPHENO:0076718", - "UPHENO:0081451", - "UPHENO:0087349", - "UBERON:0010741", - "UBERON:0003466", - "HP:0000925", - "HP:0009121", - "UPHENO:0022529", - "GO:0031326", - "UBERON:0002090", - "UPHENO:0002813", - "HP:0006433", - "UBERON:0000025", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "HP:0011793", - "UBERON:0001245", - "HP:0025033", - "HP:0006483", - "UBERON:0010912", - "UPHENO:0063565", - ], - "has_phenotype_closure_label": [ - "Abnormality of the skin", - "abnormal skin of body morphology", - "Nevus", - "skin of body", - "integument", - "integumental system", - "spinal cord", - "Abnormal spinal cord morphology", - "Abnormal conus terminalis morphology", - "dorsum", - "programmed DNA elimination", - "abnormal metabolic process", - "negative regulation of biosynthetic process", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal organelle organization", - "metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal cellular process", - "abnormal chromatin organization", - "Chromosome breakage", - "regulation of cellular process", - "negative regulation of biological process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "abnormal primary metabolic process", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "Chromosomal breakage induced by crosslinking agents", - "abnormal hematopoietic cell morphology", - "abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormal spinal cord morphology", - "Abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "Abnormal metencephalon morphology", - "segmental subdivision of nervous system", - "Cerebellar malformation", - "hindbrain", - "abnormally formed anatomical entity", - "cellular metabolic process", - "simple eye", - "abnormal integument", - "eyeball of camera-type eye", - "abnormal face morphology", - "Abnormality of skin morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "orbital region", - "decreased size of the anatomical entity in the independent continuant", - "Motor delay", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", - "Abnormality of the orbital region", - "abnormal hematopoietic system", - "abnormal cell", - "immune system", - "Abnormality of the immune system", - "non-connected functional system", - "Abnormality of blood and blood-forming tissues", - "hemolymphoid system", - "disconnected anatomical group", - "Abnormal cellular phenotype", - "abnormal skin of body", - "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", - "Anemia", - "camera-type eye", - "abnormal bone marrow cell", - "abnormal immune system", - "abnormal renal system morphology", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abdomen element", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "abnormal genitourinary system", - "abnormal anatomical entity topology in independent continuant", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "abdominal segment of trunk", - "abnormally localised anatomical entity in independent continuant", - "abdomen", - "Ectopic kidney", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "abnormal renal system", - "abnormally localised anatomical entity", - "Abnormality of the upper urinary tract", - "anatomical cavity", - "abnormal erythrocyte morphology", - "Abnormal number of permanent teeth", - "myeloid cell", - "aplastic secondary dentition", - "secondary dentition", - "calcareous tooth", - "dentition", - "abnormal mouth morphology", - "abnormally decreased number of calcareous tooth", - "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Abnormal oral morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the dentition", - "cellular component organization", - "abnormal number of anatomical enitites of type calcareous tooth", - "Agenesis of permanent teeth", - "abnormally decreased number of anatomical entity", - "subdivision of tube", - "Abnormality of the face", - "Abnormal number of teeth", - "subdivision of digestive tract", - "delayed biological_process", - "delayed growth", - "Growth delay", - "abnormally decreased number of anatomical entity in the independent continuant", - "growth", - "abnormal biological_process", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", - "Abnormal localization of kidney", - "face", - "Growth abnormality", - "abnormal skull morphology", - "abnormal size of anatomical entity", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormality of the mouth", - "abnormal size of skull", - "regional part of brain", - "abnormal telencephalon morphology", - "Eumetazoa", - "Eukaryota", - "dorsal region element", - "Abnormality of skull size", - "abnormal head", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "tooth-like structure", - "Abnormality of head or neck", - "cranial skeletal system", - "Abnormality of the genitourinary system", - "forebrain", - "Decreased head circumference", - "visual system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "abnormal craniocervical region morphology", - "kidney", - "regional part of nervous system", - "multi-tissue structure", - "abnormal kidney morphology", - "main body axis", - "subdivision of organism along main body axis", - "abnormal forebrain morphology", - "macromolecule metabolic process", - "appendage girdle complex", - "abnormal cerebellum morphology", - "skeleton", - "abnormal manual digit morphology in the independent continuant", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "absent anatomical entity", - "brain ventricle", - "cell", - "limb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "absent anatomical entity in the forelimb", - "abnormal arm", - "Tethered cord", - "excretory system", - "Abnormal curvature of the vertebral column", - "cellular process", - "Abnormal digit morphology", - "postcranial axial skeleton", - "Abnormal finger morphology", - "appendicular skeletal system", - "eye", - "Opisthokonta", - "paired limb/fin segment", - "endochondral element", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "Abnormal axial skeleton morphology", - "Aplasia/hypoplasia of the extremities", - "agenesis of anatomical entity", - "digit", - "bone element", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "anatomical space", - "paired limb/fin", - "organ subunit", - "Cognitive impairment", - "digestive system", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "aplasia or hypoplasia of anatomical entity", - "abnormal digit morphology", - "limb segment", - "skeleton of manus", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "multicellular organism", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "organism subdivision", - "lateral structure", - "digestive tract", - "Abnormal cerebellum morphology", - "digit 1 plus metapodial segment", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "Neurodevelopmental delay", - "pectoral appendage", - "body proper", - "head", - "Abnormality of limb bone", - "Abnormality of the musculoskeletal system", - "cellular organisms", - "abnormal digit", - "bodily fluid", - "multi-limb segment region", - "abnormal limb bone morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "segmental subdivision of hindbrain", - "brain ventricle/choroid plexus", - "anatomical system", - "radius endochondral element", - "regulation of cellular biosynthetic process", - "biological regulation", - "Abnormality of globe size", - "Intellectual disability", - "abnormal digestive system morphology", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormality of the hand", - "nucleobase-containing compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", - "Abnormal cell morphology", - "phenotype", - "abnormal growth", - "independent continuant", - "aplastic manual digit 1", - "organic cyclic compound metabolic process", - "segment of autopod", - "organ", - "occurrent", - "Abnormality of mental function", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormal cellular physiology", - "organic substance metabolic process", - "Pelvic kidney", - "abnormality of nervous system physiology", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "manual digit 1 plus metapodial segment", - "abnormal manus morphology", - "pectoral appendage skeleton", - "quality", - "Localized skin lesion", - "immaterial entity", - "Abnormal hand morphology", - "Abnormality of the eye", - "abnormal upper urinary tract", - "mouth", - "musculoskeletal system", - "skeleton of pectoral complex", - "abnormal face", - "autopodial extension", - "negative regulation of gene expression", - "Phenotypic abnormality", - "subdivision of skeletal system", - "entity", - "bone of pectoral complex", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "Chiari type I malformation", - "Metazoa", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "protein-containing material entity", - "abnormal skeletal system morphology", - "segment of manus", - "organ part", - "forelimb endochondral element", - "multicellular anatomical structure", - "Scoliosis", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "organism", - "autopod region", - "digit 1", - "aplasia or hypoplasia of manual digit", - "Microphthalmia", - "abnormal skeletal system", - "anatomical structure", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "Chiari malformation", - "Abnormality of the head", - "anatomical conduit", - "biological_process", - "process", - "Delayed ability to walk", - "material entity", - "nervous system process", - "abnormal number of anatomical enitites of type secondary dentition", - "system process", - "anatomical collection", - "All", - "Abnormal cerebral ventricle morphology", - "Abnormal upper limb bone morphology", - "Abnormal hindbrain morphology", - "renal system", - "nervous system", - "abnormal nervous system", - "manual digit 1 or 5", - "Neoplasm", - "upper urinary tract", - "Anal atresia", - "decreased size of the anatomical entity", - "ventricular system of brain", - "cognition", - "tube", - "abnormal autopod region morphology", - "bone of free limb or fin", - "Absent thumb", - "subdivision of trunk", - "absent manual digit", - "abnormal phenotype by ontology source", - "trunk region element", - "pectoral complex", - "abnormal appendicular skeleton morphology", - "skeleton of limb", - "material anatomical entity", - "digit plus metapodial segment", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "abnormal dentition", - "Abnormal nervous system physiology", - "abnormal forelimb morphology", - "Bone marrow hypocellularity", - "zeugopod", - "skeletal element", - "entire sense organ system", - "continuant", - "abnormal manual digit 1 morphology", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "aplastic anatomical entity", - "anterior region of body", - "appendicular skeleton", - "upper limb segment", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "skeletal system", - "aplasia or hypoplasia of manual digit 1", - "bone marrow cell", - "system", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "Abnormal eye morphology", - "manual digit", - "Abnormal morphology of the radius", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Delayed gross motor development", - "subdivision of skeleton", - "endochondral bone", - "abnormally increased number of anatomical entity in the independent continuant", - "arm", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "mesoderm-derived structure", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebrospinal fluid morphology", - "limb endochondral element", - "autopodial skeleton", - "Abnormal skeletal morphology", - "forelimb", - "forelimb zeugopod", - "genitourinary system", - "forelimb skeleton", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "bone marrow", - "acropodium region", - "Abnormality of digestive system morphology", - "abnormal limb", - "manus", - "cerebrospinal fluid", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Finger aplasia", - "Abnormal appendicular skeleton morphology", - "cerebellum", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal closing of the anatomical entity", - "bone of appendage girdle complex", - "anatomical wall", - "organ component layer", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Tooth agenesis", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "arm bone", - "Hydrocephalus", - "malformed anatomical entity", - "Morphological central nervous system abnormality", - "cavitated compound organ", - "abnormal brain morphology", - "organism substance", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "abnormally increased number of anatomical entity", - "Abnormality of the urinary system", - "transudate", - "forelimb bone", - "ventricle of nervous system", - "skull", - "abnormal cerebrospinal fluid morphology", - "abnormal brain ventricle morphology", - "central nervous system", - "ventricular system of central nervous system", - "abnormal anus", - "abnormally formed anatomical entity in independent continuant", - "oral cavity", - "dysgenesis of the radius bone", - "subdivision of head", - "Abnormality of brain morphology", - "forelimb zeugopod bone", - "metencephalon", - "abnormal digestive system", - "abnormal DNA metabolic process", - "blood cell", - "abnormal manual digit morphology in the manus", - "radius bone", - "forelimb long bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "abnormal radius bone morphology", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "long bone", - "axial skeletal system", - "obsolete cell", - "compound organ", - "dysgenesis of the anatomical entity", - "zeugopodial skeleton", - "limb long bone", - "Radial dysplasia", - "appendage", - "root", - "Abnormal long bone morphology", - "Abnormal bone structure", - "abnormal vertebral column", - "abnormal postcranial axial skeleton morphology", - "abnormal oral cavity morphology", - "telencephalon", - "vertebral column", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "trunk", - "Abnormality of the vertebral column", - "protein-DNA complex organization", - "Abnormal anus morphology", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "erythrocyte", - "organ system subdivision", - "Abnormality of the anus", - "DNA metabolic process", - "orifice", - "anus", - "immaterial anatomical entity", - "anus atresia", - "aplasia or hypoplasia of telencephalon", - "abnormal long bone morphology", - "craniocervical region", - ], - }, - { - "id": "MONDO:0014987", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group U", - "xref": ["DOID:0111085", "GARD:16215", "OMIM:617247", "UMLS:C4310651"], - "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", - "synonym": [ - "FANCU", - "Fanconi Anemia, complementation group U", - "Fanconi Anemia, complementation group type U", - "Fanconi anaemia caused by mutation in XRCC2", - "Fanconi anaemia complementation group type U", - "Fanconi anemia caused by mutation in XRCC2", - "Fanconi anemia complementation group type U", - "Fanconi anemia, complementation GROUP U", - "XRCC2 Fanconi anaemia", - "XRCC2 Fanconi anemia", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0040012", - "HP:0000086", - "HP:0002984", - "HP:0009777", - "HP:0000252", - "HP:0001510", - "HP:0003974", - "HP:0001643", - "HP:0012799", - "HP:0010035", - "HP:0011835", - ], - "has_phenotype_label": [ - "Chromosome breakage", - "Ectopic kidney", - "Hypoplasia of the radius", - "Absent thumb", - "Microcephaly", - "Growth delay", - "Absent radius", - "Patent ductus arteriosus", - "Unilateral facial palsy", - "Aplasia of the 1st metacarpal", - "Absent scaphoid", - ], - "has_phenotype_count": 11, - "has_phenotype_closure": [ - "UBERON:0001480", - "UBERON:0006716", - "HP:0003019", - "HP:0004243", - "HP:0004231", - "UPHENO:0026144", - "HP:0001191", - "UPHENO:0009338", - "HP:0001367", - "HP:0009810", - "UPHENO:0002973", - "UPHENO:0016527", - "UBERON:0014395", - "UPHENO:0081524", - "UBERON:0015078", - "HP:0011835", - "UBERON:0017750", - "UBERON:0003656", - "UBERON:0015049", - 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"HP:0001574", + "HP:0011121", + "UPHENO:0025497", + "UBERON:0001690", "UBERON:0015410", - "UBERON:0018674", - "UBERON:0001009", - "UBERON:0001637", - "UPHENO:0015280", - "GO:0016043", - "UPHENO:0075902", - "UPHENO:0080168", + "UPHENO:0002736", + "UPHENO:0086173", + "HP:0012145", + "UPHENO:0053647", + "UPHENO:0066902", + "UPHENO:0026098", + "HP:0011875", + "CL:0000458", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "HP:0004275", + "UBERON:0010314", + "UPHENO:0053633", + "HP:0001873", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0000473", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "HP:0000811", + "UPHENO:0002682", + "HP:0000035", + "HP:0001876", "HP:0000118", - "UBERON:0003834", - "UPHENO:0086797", - "HP:0033353", - "HP:0010242", - "UBERON:0007100", - "UPHENO:0002908", - "UBERON:0003620", - "UPHENO:0033603", - "UBERON:0013630", - "UBERON:0034923", - "UBERON:0000489", - "UBERON:0010323", - "UBERON:0000055", - "HP:0030962", - "HP:0025015", - "UBERON:0014892", - "UPHENO:0021800", - "UBERON:0001785", - "UBERON:0000383", - "UBERON:0015789", - "HP:0012638", - "UBERON:0004453", - "UPHENO:0081709", - "UBERON:0000122", - "UBERON:0001021", - "HP:0002011", - "UPHENO:0081700", - "UBERON:0015025", - "HP:0001324", - "HP:0003011", - "UPHENO:0003587", - "UPHENO:0079870", - "UBERON:0011216", - "HP:0001291", - "UPHENO:0020041", - "HP:0000271", - "HP:0010827", - "UPHENO:0080556", - "UPHENO:0002910", - "UPHENO:0080555", - "UBERON:0009878", - "UPHENO:0088186", - "UBERON:0005162", - "HP:0045010", - "HP:0012799", - "UBERON:0002376", - "UBERON:0002471", - "UPHENO:0081755", - "UPHENO:0078730", - "UBERON:0000010", - "UPHENO:0002433", - "HP:0410008", - "HP:0010026", - "UPHENO:0080200", - "UBERON:0015042", - "NCBITaxon:33208", - "HP:0011017", - "UBERON:0012151", - "UPHENO:0075655", - "UBERON:5102389", - "UBERON:5106048", - "UPHENO:0076755", - "HP:0012639", - "HP:0005914", - "UPHENO:0025593", - "UPHENO:0081515", - "HP:0002977", - "HP:0010009", - "UBERON:0000075", - "HP:0010035", - "HP:0009802", - "UBERON:0015024", - "UPHENO:0026055", + "UPHENO:0024906", + "UPHENO:0002940", + "HP:0001871", + "UBERON:0000079", + "UPHENO:0053610", + "UBERON:0004176", "HP:0005918", - "UBERON:0002374", - "UBERON:0015043", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0001436", - "GO:0010605", - "UBERON:0005897", - "UPHENO:0080191", - "UBERON:0004111", - "UBERON:0011137", - "UBERON:5102544", - "UBERON:5002389", - "HP:0009659", + "HP:0012243", + "HP:0000032", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "HP:0009823", + "UPHENO:0010763", + "UPHENO:0025955", + "UPHENO:0025545", + "HP:0005927", + "UPHENO:0026486", + "UPHENO:0002738", + "UPHENO:0006894", + "UBERON:0001423", + "UPHENO:0009295", + "HP:0003953", + "UPHENO:0026023", + "UPHENO:0011563", + "UPHENO:0002750", + "UPHENO:0026317", + "UPHENO:0086956", + "UPHENO:0009341", + "UPHENO:0079872", + "UBERON:0004535", + "HP:0009142", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0013702", + "UPHENO:0080187", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "HP:0040070", + "GO:0006725", + "UPHENO:0087501", + "HP:0004377", + "UPHENO:0008709", + "UPHENO:0002594", + "UPHENO:0086019", + "UPHENO:0026312", ], "has_phenotype_closure_label": [ - "radiale", - "carpal region", - "absent carpal bone in the independent continuant", - "aplasia or hypoplasia of carpal bone", - "Abnormality of upper limb joint", - "abnormal radiale", - "Carpal bone aplasia", - "carpus endochondral element", - "absent radiale", - "skeletal joint", - "Abnormality of the wrist", - "abnormal carpal region", - "Abnormal carpal morphology", - "mesopodial skeleton", - "proximal mesopodial bone", - "Abnormality of the scaphoid", - "carpal skeleton", - "Aplasia/Hypoplasia involving the carpal bones", - "multi organ part structure", - "Absent scaphoid", - "proximal carpal bone", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal proximal phalanx of manus morphology", - "abnormal metacarpal bone of digit 1 morphology", - "absent metacarpal bone in the independent continuant", - "skeleton of manus", - "abnormal manus morphology", - "pectoral appendage skeleton", - "aplastic anatomical entity", - "anterior region of body", - "Aplasia/Hypoplasia of the phalanges of the hand", - "cardiovascular system", - "digit plus metapodial segment", - "aplastic metacarpal bone of digit 1", - "organism", - "abnormal carpal bone", - "digit 1", - "Forearm undergrowth", + "3-D shape anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", + "response to stress", + "Abnormality of DNA repair", + "response to stimulus", + "DNA repair", + "DNA damage response phenotype", + "nucleobase-containing compound metabolic process phenotype", + "organic cyclic compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "metabolic process phenotype", + "macromolecule metabolic process phenotype", + "cell cycle phase", + "Abnormality of the cell cycle", + "interphase", + "ear", + "sensory perception", + "decreased sensory perception", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", + "sensory perception of sound", + "decreased qualitatively system process", + "decreased qualitatively sensory perception of sound", + "sensory perception phenotype", + "ear physiology phenotype", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "decreased system process", + "Hearing impairment", + "sense organ physiology phenotype", + "nucleic acid metabolic process phenotype", + "lateral structure physiology phenotype", + "immaterial anatomical entity", + "eye movement", + "Strabismus", + "body part movement", + "multicellular organismal process phenotype", + "anatomical line", + "behavior", + "decreased qualitatively sensory perception of mechanical stimulus", + "eye physiology phenotype", + "concave 3-D shape anatomical entity", + "Abnormality of eye movement", + "Atypical behavior", + "camera-type eye physiology phenotype", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "Short stature", + "size of multicellular organism phenotype", + "delayed biological_process", + "Abnormality of body height", + "Abnormal renal collecting system morphology", + "macromolecule metabolic process", + "Duplicated collecting system", + "Neoplasm", + "Leukemia", + "neoplasm phenotype", + "Localized skin lesion", + "Cafe-au-lait spot", + "Macule", + "biological_process rate phenotype", + "increased qualitatively biological_process", + "Hyperpigmentation of the skin", + "Abnormal heart morphology", + "Abnormal cardiovascular system morphology", + "heart morphology phenotype", + "circulatory organ", + "heart plus pericardium", + "thoracic cavity element", + "vascular system", + "Abnormality of the vasculature", + "Abnormality of the cardiovascular system", + "anatomical cluster phenotype", + "Generalized abnormality of skin", + "Vascular skin abnormality", + "vasculature", + "pigmentation", + "Abnormal finger phalanx morphology", + "Duplication of thumb phalanx", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", + "manual digit bone", + "eye movement phenotype", + "manual digit digitopodial skeleton", + "phalanx endochondral element", + "phalanx", + "skeleton of manual acropodium", + "digitopodium bone", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "pigmentation phenotype", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", + "regulation of biological process", + "programmed DNA elimination by chromosome breakage", + "negative regulation of gene expression", + "cellular response to stimulus", + "Chromosomal breakage induced by crosslinking agents", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "negative regulation of cellular process phenotype", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "regulation of cellular biosynthetic process phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Neurodevelopmental delay", + "multicellular organism mass phenotype", + "material anatomical entity mass phenotype", + "decreased anatomical structure mass", + "decreased material anatomical entity mass", + "Decreased multicellular organism mass", + "camera-type eye", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "entire sense organ system", + "Abnormality of the orbital region", + "camera-type eye morphology phenotype", + "Abnormality of the eye", + "face phenotype", + "orbital region", + "sense organ", + "Microphthalmia", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "size of eyeball of camera-type eye phenotype", + "simple eye", + "sensory system", + "face morphology phenotype", + "Abnormal eye morphology", + "orbital region phenotype", + "number of anatomical enitites of type reticulocyte phenotype", + "decreased number of reticulocyte", + "enucleated reticulocyte", + "reticulocyte", + "enucleated reticulocyte morphology phenotype", + "decreased length of digit 1", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased length of autopodial extension", + "decreased size of the material anatomical entity", + "Short thumb", + "decreased length of multicellular anatomical structure", + "decreased length of manual digit", + "decreased length of anatomical structure", + "decreased length of material anatomical entity", + "decreased size of the organism subdivision", "decreased size of the anatomical entity", - "Abnormal appendicular skeleton morphology", - "abnormal size of anatomical entity", - "limb long bone", - "zeugopodial skeleton", - "peripheral nervous system", - "paired limb/fin skeleton", - "endochondral bone", - "subdivision of skeleton", + "decreased length of organism subdivision", + "negative regulation of metabolic process phenotype", + "Short finger", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of radius bone", + "forelimb zeugopod bone phenotype", + "decreased multicellular anatomical structure mass", + "Absent radius", + "absent forelimb zeugopod bone", + "U-shaped anatomical entity", + "long bone phenotype", + "Aplasia/hypoplasia involving forearm bones", + "absent bone element in the limb", + "forelimb zeugopod morphology phenotype", + "absent bone of pectoral complex in the forelimb", + "absent long bone", + "bone of pectoral complex morphology phenotype", + "absent forelimb endochondral element in the limb", + "Abnormal forearm bone morphology", + "absent radius bone in the forelimb", + "bone of pectoral complex phenotype", + "limb long bone morphology phenotype", + "absent endochondral bone in the forelimb", + "absent limb endochondral element in the limb", + "delayed growth", + "arm bone phenotype", + "simple eye physiology phenotype", + "absent organ in the forelimb", + "cellular process", + "long bone morphology phenotype", + "absent endochondral element", + "absent organ in the limb", "Aplasia/Hypoplasia of the radius", - "system", - "Aplasia involving bones of the upper limbs", - "abnormal anatomical entity", - "Upper limb undergrowth", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the proximal phalanges of the hand", - "mesopodium bone", - "bone of free limb or fin", - "abnormal autopod region morphology", - "proximal mesopodial endochondral element", + "vestibulo-auditory system", + "absent limb endochondral element", + "absent limb bone", + "forelimb bone phenotype", + "absent bone of free limb or fin in the limb", + "Absent forearm bone", + "decreased size of the organ", + "absent forelimb bone", + "absent bone element", + "Abnormal morphology of the radius", + "Reticulocytopenia", + "absent forelimb bone in the limb", + "absent endochondral element in the forelimb", + "number of anatomical enitites of type bone element phenotype", + "forelimb long bone phenotype", + "nervous system process phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "increased biological_process", + "absent bone of free limb or fin", + "radius bone phenotype", + "absent bone of free limb or fin in the forelimb", + "regulation of biosynthetic process phenotype", + "zeugopod", + "decreased length of anatomical entity", + "bone of pectoral complex", + "nervous system physiology phenotype", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "pathological phenotype observation", + "decreased size of the anatomical entity in the pectoral complex", + "decreased functionality of the gonad", + "decreased sensory perception of sound", + "anatomical system physiology phenotype", + "subdivision of head", + "absent mesoderm-derived structure in the forelimb", + "appendage girdle complex", + "digit phenotype", + "Renal hypoplasia/aplasia", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Hypermelanotic macule", + "absent kidney in the renal system", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "kinesthetic behavior", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "Duplication of hand bones", + "nervous system process", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "decreased size of the anatomical structure", + "organ", + "occurrent", + "subdivision of skeleton", + "endochondral bone", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", + "entity", + "manual digit 1 phalanx endochondral element", + "tissue", + "forelimb zeugopod bone morphology phenotype", + "behavior process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "acropodial skeleton", + "autopod region morphology phenotype", + "appendage", + "anatomical entity phenotype", + "decreased multicellular organismal process", + "root", + "localised testis", "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "limb", + "bone of free limb or fin", + "cavitated compound organ phenotype", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "cardiovascular system", + "absent skeletal element", + "manual digit morphology in the manus phenotype", + "localised cavitated compound organ", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "number of anatomical enitites of type endochondral bone phenotype", + "upper limb segment phenotype", + "endochondral element phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "protein-containing material entity", + "segment of manus", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "multi-limb segment region", + "manual digit plus metapodial segment", + "digit 1 plus metapodial segment", + "anatomical entity length phenotype", + "digit", + "digit 1 or 5 phenotype", + "Abnormal digit morphology", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", "Abnormality of the upper limb", + "limb", "cell", + "absent anatomical entity in the renal system", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "absent skeletal element in the forelimb", + "absent bone of appendage girdle complex in the forelimb", + "pectoral appendage", + "absent organism subdivision", + "Neurodevelopmental abnormality", + "manus phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "axial skeleton plus cranial skeleton", + "Abnormal hand morphology", + "Metazoa", + "absent mesoderm-derived structure", + "Aplasia/hypoplasia involving bones of the extremities", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "digitopodium region", + "skeleton of manus", + "skeleton of limb", + "Aplasia involving forearm bones", + "autopodial extension phenotype", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "G2 phase", + "nervous system phenotype", + "All", + "Aplasia involving bones of the extremities", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "paired limb/fin segment phenotype", + "absent anatomical structure in the forelimb", + "acropodium region", + "Intellectual disability", + "bone marrow", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "erythrocyte morphology phenotype", + "paired limb/fin segment", + "Opisthokonta", + "Duplication of bones involving the upper extremities", + "localised abdominal segment element", + "genitourinary system", + "decreased size of the digit", + "paired limb/fin", + "skeleton phenotype", + "absent forelimb endochondral element", + "limb phenotype", + "paired limb/fin skeleton", + "arm phenotype", + "hematopoietic system", + "agenesis of anatomical entity", + "nucleobase-containing compound metabolic process", + "manus morphology phenotype", + "increased pigmentation", + "material anatomical entity phenotype", + "absent kidney", + "digit 1 phenotype", + "bone of appendage girdle complex", + "arm", + "multicellular anatomical structure mass phenotype", + "male reproductive organ phenotype", + "manual digit", + "limb bone morphology phenotype", + "Abnormal skeletal morphology", + "anatomical system", + "absent anatomical structure in the limb", + "Abnormality of thumb phalanx", + "decreased number of leukocyte", + "decreased size of the sense organ", + "anatomical collection phenotype", + "quality", + "decreased number of platelet", + "Aplasia/hypoplasia of the extremities", + "decreased number of anatomical entity", + "Abnormal cellular phenotype", + "abdominal segment element", + "decreased number of neutrophil", + "renal collecting system phenotype", + "musculature", + "regional part of brain", + "Abnormality of limbs", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "skeletal element", + "taxon specific phenotype", + "granulocyte morphology phenotype", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "cell phenotype", + "obsolete cell", + "programmed DNA elimination", + "anatomical entity morphology phenotype", + "Abnormal localization of kidney", + "size of skull phenotype", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", + "circulatory system", + "bone marrow cell", + "Pancytopenia", + "subdivision of organism along appendicular axis phenotype", + "eye phenotype", + "Abnormal cellular immune system morphology", + "absent multicellular anatomical structure in the limb", + "endocrine system phenotype", + "multicellular organism morphology phenotype", + "skeletal system", + "cavitated compound organ", + "Abnormal leukocyte count", + "number of anatomical enitites of type neutrophil phenotype", + "Abnormal myeloid cell morphology", + "U-shaped kidney", + "digit 1 or 5", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "subdivision of skeletal system phenotype", + "Abnormal reticulocyte morphology", + "number of hematopoietic cell phenotype", + "postcranial axial skeleton", + "absent radius endochondral element", + "skeleton", + "Abnormal bleeding", + "immune system phenotype", + "decreased functionality of the organ", + "aplasia or hypoplasia of manual digit 1", + "reproductive system physiology phenotype", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "ear phenotype", + "anatomical entity", + "absent autopodial extension", + "hematopoietic system phenotype", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Abnormal immune system morphology", + "number of platelet phenotype", + "external genitalia", + "skeleton of pectoral complex", + "eukaryotic cell", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "arm bone", + "Abnormal myeloid leukocyte morphology", + "absent forelimb zeugopod bone in the forelimb", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "structure with developmental contribution from neural crest phenotype", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "immune system", + "organ system subdivision", + "erythrocyte", + "decreased number of cell", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "Abnormality of skin pigmentation", + "phenotypic effect", + "size of anatomical entity phenotype", + "absent anatomical entity in the multicellular organism", + "organ physiology phenotype", + "Abnormal cell morphology", + "phenotype", "limb endochondral element", - "Short forearm", - "delayed biological_process", - "Aplasia/hypoplasia involving bones of the hand", - "bone element hypoplasia in independent continuant", - "Unilateral facial palsy", - "paired limb/fin segment", - "multi-limb segment region", - "endochondral element", + "digit plus metapodial segment", + "skeletal system phenotype", + "absent anatomical entity", + "Bruising susceptibility", + "absent compound organ in the renal system", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "bone of appendage girdle complex phenotype", + "number of anatomical enitites of type lateral structure phenotype", + "shape kidney", + "ectoderm-derived structure physiology phenotype", + "negative regulation of metabolic process", + "nervous system morphology phenotype", + "manual digit 1 or 5", + "myeloid leukocyte", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "manual digitopodium bone", + "localised lateral structure", + "vision/eye phenotype", + "absent multicellular anatomical structure in the skeletal system", + "organism subdivision", + "cell cycle phenotype", + "regional part of brain phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "neutrophil phenotype", + "external male genitalia", + "aplasia or hypoplasia of skeleton", + "cellular response to stress phenotype", + "craniocervical region morphology phenotype", + "localised multicellular anatomical structure", + "main body axis", + "decreased functionality of the reproductive organ", + "non-connected functional system", + "absent bone of appendage girdle complex in the limb", + "number of cell phenotype", + "number of leukocyte phenotype", + "platelet", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "Abnormal limb bone morphology", + "absent digit", + "musculoskeletal system", + "absent material anatomical entity in the forelimb", + "manual digit phenotype", + "anatomical system phenotype", + "musculature phenotype", + "number of myeloid cell phenotype", + "DNA metabolic process phenotype", + "multi-limb segment region phenotype", + "hemolymphoid system", + "decreased number of material anatomical entity", + "absent mesoderm-derived structure in the limb", + "autopod region phenotype", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "anatomical structure mass phenotype", + "multicellular organism", + "decreased functionality of the anatomical structure", + "Thrombocytopenia", + "leukocyte", + "increased biological_process in skin of body", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "number of anatomical enitites of type compound organ phenotype", + "cellular response to stimulus phenotype", + "absent bone element in the forelimb", + "Abnormal appendicular skeleton morphology", + "anatomical structure physiology phenotype", "bone element", - "pectoral complex", - "trunk region element", - "skeletal system", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Limb undergrowth", - "abnormal upper urinary tract", - "paired limb/fin", - "metacarpus region", - "Hypoplasia of the radius", - "anatomical collection", - "All", - "Aplasia involving bones of the extremities", - "decreased size of the anatomical entity in the independent continuant", - "forelimb zeugopod bone hypoplasia", - "Abnormal skeletal morphology", - "arm bone", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "obsolete cellular aromatic compound metabolic process", - "abnormal facial muscle", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "blood vessel", - "outflow tract", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "limb segment", - "craniocervical region", - "aplasia or hypoplasia of manual digit 1 phalanx", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of limb", - "Aplasia involving forearm bones", - "Aplasia/Hypoplasia of fingers", + "mesoderm-derived structure phenotype", + "decreased number of hematopoietic cell", + "absent anatomical entity in the forelimb", + "multicellular anatomical structure", "primary metabolic process", + "Abnormality of the skin", "forelimb endochondral element", - "abnormal limb bone morphology", - "radius endochondral element", - "regulation of cellular metabolic process", - "individual digit of digitopodial skeleton", - "manus", - "head", - "Abnormal forearm bone morphology", + "Abnormality of globe size", + "bone element phenotype", + "cell cycle", + "pectoral complex", + "decreased size of the manual digit", + "trunk region element", + "absent limb long bone in the forelimb", + "Anemic pallor", + "cellular metabolic process", + "superficial fascia", + "Abnormality of neutrophils", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", "digit 1 digitopodial skeleton", - "Abnormality of the skeletal system", - "facial nerve", - "Aplasia/hypoplasia involving bones of the extremities", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "protein-containing material entity", - "proximal carpal endochondral element", - "abnormal skeletal system morphology", - "segment of manus", - "abnormal anatomical entity morphology in the pectoral complex", - "Aplasia/hypoplasia of the extremities", - "forelimb bone", - "anatomical entity hypoplasia", - "skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "regulation of biosynthetic process", - "nucleic acid metabolic process", + "decreased number of myeloid cell", + "decreased size of the autopodial extension", + "absent bone of pectoral complex in the limb", "process", - "Congenital malformation of the great arteries", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "acropodial skeleton", - "Abnormal muscle physiology", - "musculoskeletal system", - "abnormal cellular metabolic process", - "absent radius bone", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "subdivision of skeletal system", - "entity", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "absent anatomical entity in the metacarpus region", - "material anatomical entity", - "muscle structure", - "chromatin organization", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "carpal bone", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal manus", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "arm", - "protein-DNA complex organization", - "abnormal systemic artery morphology", - "appendicular skeletal system", - "abdomen element", - "postcranial axial skeletal system", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "quality", - "forelimb zeugopod skeleton", - "regulation of cellular biosynthetic process", - "Abnormality of the genitourinary system", - "forebrain", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "limb bone", - "Aplasia of the proximal phalanges of the hand", - "abnormality of nervous system physiology", - "regional part of nervous system", - "abnormal cellular process", - "forelimb skeleton", - "genitourinary system", - "abnormal limb", - "negative regulation of cellular process", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "biological regulation", - "abdominal segment of trunk", - "abnormal forelimb zeugopod morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "cellular metabolic process", - "abnormal cranial nerve morphology", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "musculature of face", - "cellular component organization", - "abnormal cellular component organization", - "compound organ", - "Abnormality of the peripheral nervous system", - "articular system", - "negative regulation of biological process", - "absent digit", - "nucleobase-containing compound metabolic process", - "renal system", - "abnormally localised kidney", - "obsolete nitrogen compound metabolic process", - "thoracic segment blood vessel", - "excretory system", - "circulatory system", - "abnormal digit", - "cellular organisms", - "thoracic segment of trunk", - "Abnormality of the musculature", - "short bone", - "abnormal organelle organization", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "mesoderm-derived structure", - "autopod bone", - "metabolic process", - "Abnormal morphology of the radius", - "abnormal skeletal joint morphology", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "abnormal chromatin organization", - "Chromosome breakage", + "anatomical entity morphology in the pectoral complex phenotype", + "number of anatomical enitites of type kidney phenotype", + "Abnormal granulocyte morphology", + "glandular system", + "Abnormal male external genitalia morphology", + "subdivision of head phenotype", + "blood cell phenotype", + "decreased number of granulocyte", + "multicellular anatomical structure phenotype", + "regulation of metabolic process", + "Decreased body weight", + "decreased size of the ectoderm-derived structure", + "manual digit 1", + "autopodial extension", + "absent trunk region element in the renal system", "continuant", - "forelimb zeugopod", - "abnormality of muscle organ physiology", + "paired limb/fin phenotype", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "musculature of body", + "camera-type eye phenotype", + "manus", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "integument phenotype", + "Abnormal eye physiology", "segment of autopod", - "organic cyclic compound metabolic process", - "manual digitopodium bone", + "response to stimulus phenotype", + "reproductive system", + "anatomical entity morphology in the manus phenotype", + "sensory perception of mechanical stimulus phenotype", + "anatomical line between pupils", "independent continuant", - "abnormal growth", - "articulation", - "Abnormality of facial musculature", - "aplasia or hypoplasia of proximal phalanx of manus", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "abnormal primary metabolic process", - "Abnormal joint morphology", - "body proper", - "abnormal peripheral nervous system", - "regulation of cellular process", - "biological_process", - "Abnormal localization of kidney", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal anatomical entity topology in independent continuant", - "cellular process", - "Abnormal digit morphology", - "abnormally localised anatomical entity", - "phenotype by ontology source", - "thoracic segment organ", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "appendicular skeleton", - "upper limb segment", - "organ", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "aplastic manual digit 1 phalanx", - "muscle organ", - "multicellular organism", - "regulation of macromolecule biosynthetic process", - "decreased length of forelimb zeugopod bone", - "Abnormality of the kidney", - "paralysed anatomical entity", - "phalanx endochondral element", - "abnormal carpal bone morphology", - "abnormal kidney morphology", - "macromolecule metabolic process", - "vascular system", - "Ectopic kidney", - "skeletal element", - "zeugopod", - "cavitated compound organ", - "abnormal brain morphology", - "abnormal phenotype by ontology source", + "aplastic manual digit 1", + "number of anatomical enitites of type organism subdivision phenotype", + "anatomical structure", + "localised trunk region element", + "absent lateral structure", + "Anemia", + "manus bone", + "Abnormality of the hand", + "radius bone", + "Subcutaneous hemorrhage", + "absent organism subdivision in the multicellular organism", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "limb segment", + "cellular organisms", + "Abnormal neutrophil count", + "forelimb morphology phenotype", + "absent manual digit", "Abnormal thumb morphology", "subdivision of trunk", - "absent manual digit", - "proximal phalanx of manus", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "obsolete cell", - "decreased length of long bone", - "programmed DNA elimination", - "subdivision of organism along main body axis", - "negative regulation of cellular biosynthetic process", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", - "Abnormality of the upper urinary tract", - "vasculature", - "abnormal renal system", - "organ system subdivision", - "abnormal forelimb zeugopod bone", - "manual digit 1 phalanx", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "Aplasia of the phalanges of the hand", - "appendage girdle complex", - "subdivision of head", - "trunk", - "skeletal musculature", - "anatomical entity hypoplasia in independent continuant", - "skeletal musculature of head", - "anatomical system", + "subdivision of organism along appendicular axis", + "absent anatomical structure in the multicellular organism", + "telencephalon phenotype", + "male reproductive system phenotype", + "autopodial skeleton", + "DNA damage response", + "lateral structure", + "cellular process phenotype", + "multicellular organism phenotype", + "external genitalia phenotype", + "system process", + "Abnormality of mental function", + "external male genitalia phenotype", + "absent organ in the multicellular organism", + "multicellular organismal process", + "Hypergonadotropic hypogonadism", + "material anatomical entity physiology phenotype", + "number of anatomical enitites of type granulocyte phenotype", + "reproductive structure physiology phenotype", + "behavior phenotype", + "forelimb zeugopod bone", + "nervous system", + "renal system", + "endochondral bone phenotype", + "cognition", + "absent abdominal segment element", + "localised anatomical structure", + "simple eye phenotype", + "abdomen element", + "absent anatomical structure", + "localised kidney", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "absent cavitated compound organ", "Abnormal renal morphology", + "forelimb endochondral element phenotype", "Aplasia/Hypoplasia involving the central nervous system", - "abnormal anatomical entity morphology in the heart", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "appendage", - "root", - "Aplasia/Hypoplasia of the phalanges of the thumb", - "abnormally localised anatomical entity in independent continuant", - "regulation of biological process", - "arterial blood vessel", - "manual digitopodium region", - "upper urinary tract", - "aplastic carpal bone", - "abnormal renal system morphology", - "abnormal appendicular skeleton morphology", - "abnormality of cranial nerve physiology", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "aplasia or hypoplasia of anatomical entity", - "radius bone hypoplasia", - "aplastic forelimb zeugopod bone", - "Abnormality of the vasculature", - "subdivision of organism along appendicular axis", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal ductus arteriosus morphology", - "manual digit plus metapodial segment", - "agenesis of anatomical entity", - "aplastic manual digit 1", - "Abnormal finger phalanx morphology", - "Abnormal finger morphology", - "Aplasia/Hypoplasia of the thumb", - "absent metacarpal bone", - "absent anatomical entity", - "manual digit phalanx endochondral element", - "abnormal manual digit morphology in the independent continuant", - "manual digit bone", - "Abnormal morphology of the great vessels", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "aplasia or hypoplasia of manual digit 1", - "abdomen", - "manual digit 1 plus metapodial segment", - "manual digit", - "digit", - "Facial palsy", - "digit 1 or 5", - "skeleton of manual digitopodium", + "renal system phenotype", + "nucleic acid metabolic process", + "absent endochondral bone in the limb", + "renal collecting system", + "immune system morphology phenotype", + "Ectopic kidney", + "Hearing abnormality", + "absent anatomical structure in the renal system", "primary circulatory organ", - "autopodial skeleton", - "abnormal skeletal joint morphology in the pectoral complex", - "digitopodium region", - "acropodium region", + "skeleton of manual digitopodium", + "absent endochondral bone", + "localised organ", + "body proper", + "DNA repair phenotype", + "skeleton of digitopodium", + "Short digit", + "absent multicellular anatomical structure in the renal system", + "eye", + "compound organ", + "zeugopodial skeleton", + "limb long bone", "Finger aplasia", - "Abnormal proximal phalanx morphology of the hand", + "abdominal segment element phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "absent radius endochondral element in the forelimb", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "Irregular hyperpigmentation", + "male organism", + "negative regulation of gene expression phenotype", + "localised compound organ", + "Abnormal granulocyte count", + "skin of body phenotype", + "Abnormality of the kidney", + "trunk", + "absent trunk region element in the multicellular organism", + "blood cell", + "Abnormality of the genitourinary system", + "excretory system", + "subdivision of organism along main body axis", + "Abnormal conjugate eye movement", + "renal/urinary system phenotype", + "forelimb bone", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "upper urinary tract phenotype", + "integument", + "platelet phenotype", + "biological_process", + "genitourinary system phenotype", + "decreased length of digit", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "upper urinary tract", + "Growth delay", + "kidney", + "regional part of nervous system", + "telencephalon morphology phenotype", + "skull phenotype", + "forelimb", + "Abnormal forebrain morphology", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "limb long bone phenotype", + "multi-tissue structure", + "regulation of macromolecule biosynthetic process phenotype", + "Decreased head circumference", + "Abnormality of the nervous system", + "central nervous system morphology phenotype", + "cardiovascular system morphology phenotype", + "Growth abnormality", + "axial skeletal system", + "absent arm bone", + "reproductive organ", + "primary metabolic process phenotype", + "forebrain morphology phenotype", + "Abnormality of body weight", "aplasia or hypoplasia of telencephalon", - "abnormal nervous system", - "abnormal musculature", - "abnormal forebrain morphology", + "decreased size of the multicellular organism", + "Abnormal bone marrow cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", + "Abnormality of skull size", + "craniocervical region", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "subdivision of organism along main body axis phenotype", + "regulation of gene expression phenotype", + "system", + "brain morphology phenotype", + "forelimb skeleton", + "endocrine system", + "head morphology phenotype", + "Hematological neoplasm", + "regional part of nervous system phenotype", + "decreased length of manual digit 1 or 5", + "decreased functionality of the multicellular anatomical structure", + "ectoderm-derived structure phenotype", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "absent limb bone in the forelimb", + "erythroid lineage cell", + "telencephalon", + "head phenotype", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "decreased sensory perception of mechanical stimulus", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "cranial skeletal system", + "craniocervical region phenotype", + "brain", + "Abnormality of head or neck", + "Abnormal skull morphology", + "Abnormal brain morphology", + "absent material anatomical entity in the skeletal system", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "skull", + "autopod endochondral element", + "homeostatic process phenotype", + "Abnormality of limb bone", + "central nervous system", + "Abnormality of the genital system", + "reproductive organ physiology phenotype", + "decreased functionality of the material anatomical entity", + "Puberty and gonadal disorders", + "myeloid leukocyte phenotype", + "forebrain", + "gonad physiology phenotype", + "nucleate cell", + "reproductive structure phenotype", + "multicellular anatomical structure physiology phenotype", + "limb endochondral element phenotype", + "number of anatomical enitites of type abdomen element phenotype", + "absent arm bone in the forelimb", + "viscus", + "anatomical entity mass phenotype", + "reproductive organ phenotype", + "sense organ phenotype", + "Abnormality of reproductive system physiology", + "absent lateral structure in the renal system", + "behavior process phenotype", + "reproductive system phenotype", + "skull morphology phenotype", + "localised reproductive structure", + "gonad phenotype", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "Neutropenia", + "reproductive structure", + "vasculature phenotype", + "growth phenotype", + "Abnormality of the endocrine system", + "number of anatomical enitites of type skeletal element phenotype", + "number of anatomical enitites of type abdominal segment element phenotype", + "neutrophil", + "absent abdomen element", + "decreased number of anatomical structure", + "absent cavitated compound organ in the renal system", + "number of anatomical enitites of type organ phenotype", + "Duplication of phalanx of hand", + "number of anatomical enitites of type cavitated compound organ phenotype", + "absent organ", + "manual digit phalanx endochondral element", + "number of anatomical enitites of type trunk region element phenotype", + "decreased functionality of the reproductive structure", + "Cryptorchidism", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "absent trunk region element", + "Renal agenesis", + "motile cell", + "absent abdominal segment element in the renal system", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "absent organ in the renal system", + "digit morphology phenotype", + "absent abdomen element in the renal system", + "absent material anatomical entity in the renal system", + "Abnormal platelet count", + "absent compound organ", + "oxygen accumulating cell", + "Abnormality of the integument", + "erythroid lineage cell morphology phenotype", + "sensory perception of mechanical stimulus", + "Abnormal upper limb bone morphology", + "skin of body", + "integumental system", + "material anatomical entity", + "skin of body morphology phenotype", + "Abnormal skin morphology", + "shape of continuant phenotype", + "anucleate cell", + "Abnormality of thrombocytes", + "limb bone phenotype", + "secretory cell", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "absent bone of appendage girdle complex", + "organ phenotype", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "testis", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "cardiovascular system phenotype", + "localised abdomen element", + "Abnormal testis morphology", + "disconnected anatomical group", + "male reproductive organ", + "testis phenotype", + "response to stress phenotype", + "Small for gestational age", + "Abnormal forearm morphology", + "absent forelimb bone in the forelimb", + "absent limb bone in the limb", + "aplastic forelimb zeugopod bone", + "forelimb long bone", + "serotonin secreting cell", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", + "radius endochondral element", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Aplasia involving bones of the upper limbs", + "Abnormal cerebral morphology", + "limb segment phenotype", + "absent endochondral element in the limb", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "forelimb zeugopod", + "absent limb long bone", + "absent limb endochondral element in the forelimb", + "regulation of biological process phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "number of anatomical enitites of type endochondral element phenotype", + "absent skeletal element in the limb", + "Pallor", + "absent radius bone", + "absent anatomical structure in the skeletal system", + ], + }, + { + "id": "MONDO:0012187", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group J", + "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.", + "provided_by": "phenio_nodes", + "xref": [ + "DOID:0111097", + "GARD:15449", + "MEDGEN:323015", + "MESH:C563801", + "NCIT:C129027", + "OMIM:609054", + "UMLS:C1836860", + ], + "synonym": [ + "FANCJ", + "Fanconi Anemia, complementation group type J", + "Fanconi anaemia complementation group type J", + "Fanconi anemia complementation group J", + "Fanconi anemia complementation group type J", + "Fanconi anemia, complementation group J", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0008897", + "HP:0009778", + "HP:0005528", + "HP:0001511", + "HP:0007565", + "HP:0000568", + "HP:0001263", + "HP:0003221", + ], + "has_phenotype_label": [ + "Postnatal growth retardation", + "Short thumb", + "Bone marrow hypocellularity", + "Intrauterine growth retardation", + "Multiple cafe-au-lait spots", + "Microphthalmia", + "Global developmental delay", + "Chromosomal breakage induced by crosslinking agents", + ], + "has_phenotype_count": 8, + "has_phenotype_closure": [ + "GO:0005623", + "UPHENO:0050007", + "UPHENO:0049775", + "HP:0001939", + "GO:0010468", + "GO:0031327", + "UPHENO:0049904", + "GO:0050794", + "GO:0019222", + "GO:0048519", + "GO:0065007", + "GO:0008152", + "GO:0060255", + "GO:0048523", + "UPHENO:0050025", + "UPHENO:0050435", + "UPHENO:0050063", + "HP:0003220", + "GO:0031049", + "UPHENO:0078606", + "GO:0031052", + "GO:0009890", + "GO:0031324", + "HP:0003221", + "GO:0010629", + "UPHENO:0050778", + "UPHENO:0002267", + "UPHENO:0002269", + "UPHENO:0049620", + "HP:0001263", + "HP:0012638", + "UPHENO:0002385", + "UPHENO:0004523", + "UPHENO:0002433", + "HP:0012372", + "UBERON:0010230", + "UPHENO:0086589", + "UBERON:0004088", + "UBERON:0000033", + "UBERON:0004456", + "HP:0000234", + "UBERON:0002104", + "HP:0000568", + "UBERON:0000020", + "UBERON:0007811", + "HP:0000315", + "UPHENO:0069523", + "UPHENO:0069064", + "GO:0050789", + "UBERON:0013701", + "UPHENO:0003020", + "UPHENO:0002764", + "HP:0000271", + "HP:0000152", + "HP:0000478", + "UPHENO:0002910", + "UPHENO:0087907", + "UBERON:0000970", + "UPHENO:0069161", + "UPHENO:0003025", + "UBERON:0001032", + "UPHENO:3000000", + "UPHENO:0075219", + "HP:0001034", + "HP:0011121", + "GO:0009889", + "UPHENO:0002548", + "HP:0000953", + "UPHENO:0050784", + "UPHENO:0076739", + "UPHENO:0054970", + "GO:0043473", + "HP:0001574", + "UPHENO:0050008", + "HP:0007565", + "UPHENO:0049757", + "HP:0000957", + "UPHENO:0002816", + "HP:0008056", + "UPHENO:0069062", + "UPHENO:0002880", + "UPHENO:0002559", + "UBERON:5002544", + "UBERON:0034923", + "UPHENO:0087006", + "HP:0005922", + "HP:0040012", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0011216", + "UPHENO:0080126", + "UPHENO:0002530", + "HP:0000924", + "UPHENO:0084761", + "UPHENO:0069605", + "UPHENO:0002708", + "UBERON:0001463", + "UBERON:0000468", + "UBERON:0012475", + "UPHENO:0012274", + "HP:0100887", + "UBERON:0012140", + "UBERON:0004375", + "UPHENO:0080114", + "UPHENO:0005433", + "UBERON:0010912", + "UPHENO:0002600", + "HP:0009115", + "GO:0009892", + "GO:0010605", + "UPHENO:0080079", + "HP:0011844", + "HP:0000707", + "UPHENO:0086172", + "HP:0011927", + "UPHENO:0052778", + "UBERON:0002398", + "UPHENO:0080099", + "UPHENO:0002782", + "UPHENO:0076703", + "UPHENO:0002983", + "GO:0031326", + "UPHENO:0002526", + "HP:0001510", + "UBERON:0002470", + "HP:0001871", + "UBERON:0000019", + "UBERON:0010708", + "UBERON:0002371", + "UPHENO:0069266", + "UPHENO:0076692", + "UPHENO:0002536", + "UPHENO:0046528", + "UPHENO:0002568", + "UBERON:0015061", + "UPHENO:0074575", + "HP:0011017", + "UBERON:0012141", + "UPHENO:0002976", + "UPHENO:0079876", + "UPHENO:0049642", + "UPHENO:0050106", + "UPHENO:0046624", + "UPHENO:0076723", + "UBERON:0005451", + "UPHENO:0012440", + "UPHENO:0002554", + "BFO:0000001", + "UPHENO:0087472", + "UPHENO:0069327", + "UPHENO:0046707", + "HP:0001172", + "HP:0000118", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0002928", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0001456", + "UPHENO:0000541", + "UPHENO:0005642", + "BFO:0000015", + "UPHENO:0002905", + "UBERON:0012139", + "UBERON:0010538", + "UBERON:0019221", + "UPHENO:0046750", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0049587", + "UBERON:0005881", + "UPHENO:0002632", + "UBERON:0002102", + "UPHENO:0001001", + "UPHENO:0080209", + "UPHENO:0068914", + "UBERON:0012354", + "HP:0001000", + "UPHENO:0002525", + "UPHENO:0002870", + "HP:0001507", + "HP:0009601", + "HP:0009381", + "UPHENO:0050040", + "UPHENO:0002593", + "PATO:0000001", + "UBERON:0011249", + "UBERON:0004120", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0050065", + "UPHENO:0002861", + "UBERON:0010707", + "HP:0001167", + "HP:0040064", + "UPHENO:0080662", + "BFO:0000002", + "UBERON:0006048", + "UPHENO:0002733", + "UBERON:0002091", + "UPHENO:0046411", + "UBERON:0013702", + "HP:0002813", + "UBERON:0002389", + "UPHENO:0002896", + "UPHENO:0050126", + "UPHENO:0069684", + "HP:0000951", + "UBERON:0015212", + "UPHENO:0046552", + "GO:0010558", + "UBERON:0008785", + "UPHENO:0002866", + "UPHENO:0076724", + "UBERON:0000061", + "UPHENO:0046741", + "UPHENO:0074584", + "BFO:0000040", + "UPHENO:0081581", + "UBERON:5001463", + "UBERON:0000062", + "UPHENO:0003811", + "GO:0048856", + "GO:0040007", + "UBERON:0001460", + "UPHENO:0068971", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:3000007", + "UBERON:0010740", + "UBERON:0004121", + "UBERON:0010712", + "UPHENO:0002635", + "GO:0031323", + "UBERON:0002513", + "UBERON:0002529", + "UPHENO:0049874", + "UPHENO:0003799", + "BFO:0000003", + "UBERON:5002389", + "GO:0010556", + "PR:000050567", + "UPHENO:0046505", + "UBERON:0004708", + "UPHENO:0049743", + "UPHENO:0087924", + "UPHENO:0001002", + "HP:0006265", + "BFO:0000020", + "UPHENO:0076727", + "UPHENO:0049868", + "UPHENO:0003082", + "UBERON:0001015", + "GO:0042592", + "UBERON:0034925", + "UPHENO:0050034", + "HP:0012758", + "UPHENO:0002945", + "UPHENO:0075997", + "UPHENO:0003049", + "GO:0008150", + "UPHENO:0002830", + "UPHENO:0084448", + "UBERON:0004710", + "UBERON:0010758", + "UPHENO:0046740", + "UPHENO:0052160", + "UPHENO:0076740", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0046483", + "HP:0012759", + "UBERON:0002097", + "UPHENO:0002648", + "UPHENO:0003069", + "HP:0002817", + "HP:0005927", + "UPHENO:0002926", + "UPHENO:0003065", + "UBERON:0002544", + "UPHENO:0002948", + "BFO:0000004", + "UBERON:0004381", + "UPHENO:0004476", + "UBERON:0007272", + "HP:0006496", + "HP:0009778", + "UBERON:0001434", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0003005", + "UBERON:0002416", + "UPHENO:0046426", + "RO:0002577", + "HP:0040068", + "UBERON:5006048", + "UBERON:0000479", + "UPHENO:0082875", + "UBERON:0001474", + "UPHENO:0080382", + "UPHENO:0086633", + "HP:0045060", + "UPHENO:0084763", + "UBERON:0010363", + "UPHENO:0012312", + "UPHENO:0075195", + "UPHENO:0086700", + "HP:0001155", + "HP:0007400", + "UPHENO:0069236", + "HP:0012733", + "UPHENO:0046445", + "UBERON:0000475", + "UPHENO:0003095", + "UBERON:0000383", + "UPHENO:0012308", + "HP:0009815", + "UBERON:0000075", + "UPHENO:0088186", + "UPHENO:0002944", + "UBERON:0011676", + "UPHENO:0002586", + "HP:0005528", + "UPHENO:0005597", + "UBERON:0000465", + "UPHENO:0000543", + "HP:0001511", + "UBERON:0000047", + "UPHENO:0069674", + "HP:0025461", + "UPHENO:0053456", + "HP:0002715", + "HP:0025354", + "UPHENO:0080393", + "HP:0012145", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0002963", + "CL:0000000", + "UBERON:0000153", + "HP:0008897", + "HP:0005561", + "UBERON:0015203", + "CL:0002092", + "GO:0007275", + "CL:0001035", + "UPHENO:0049966", + "UBERON:0006058", + "UPHENO:0052694", + "UBERON:0011582", + "UPHENO:0052178", + "HP:0011297", + "UPHENO:0050068", + "UBERON:0004288", + "UPHENO:0050108", + "UBERON:0001016", + "UPHENO:0080377", + "GO:0009790", + "UPHENO:0005647", + "UBERON:0002204", + "UPHENO:0005596", + "GO:0032501", + "UBERON:0001440", + "GO:0032502", + "UBERON:0001444", + "HP:0011842", + "UPHENO:0053330", + "UBERON:0002428", + "UPHENO:0004459", + "UPHENO:0054957", + "UPHENO:0005573", + "HP:0011355", + "UBERON:0002193", + "UBERON:0002199", + ], + "has_phenotype_closure_label": [ + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "negative regulation of cellular metabolic process", + "Chromosome breakage", + "negative regulation of biological process phenotype", + "homeostatic process", + "Chromosomal breakage induced by crosslinking agents", + "regulation of metabolic process phenotype", + "regulation of cellular metabolic process phenotype", + "Abnormality of metabolism/homeostasis", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "negative regulation of biological process", + "obsolete cell", + "biological regulation phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "programmed DNA elimination", + "nervous system", + "material anatomical entity physiology phenotype", "Abnormality of the nervous system", - "Abnormal hand morphology", - "Metazoa", - "axial skeleton plus cranial skeleton", - "heart vasculature", - "cranial neuron projection bundle", - "abnormal craniocervical region morphology", - "abnormal nervous system morphology", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "Abnormal skull morphology", - "abnormal metacarpal bone morphology", - "abnormal anatomical entity morphology in the brain", - "Decreased head circumference", - "telencephalon", - "Abnormal peripheral nerve morphology by anatomical site", - "Weakness of facial musculature", - "Growth abnormality", - "axial skeletal system", - "cranial skeletal system", + "anatomical entity physiology phenotype", + "Neurodevelopmental abnormality", + "nervous system physiology phenotype", + "anatomical structure physiology phenotype", + "Global developmental delay", + "camera-type eye", "Abnormality of head or neck", - "Aplasia/hypoplasia involving forearm bones", - "metapodium region", - "abnormal head morphology", - "abnormal head", - "Abnormality of skull size", - "decreased muscle organ strength", - "postcranial axial skeleton", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormality of limb bone", - "autopod endochondral element", - "central nervous system", - "regional part of brain", - "metacarpus skeleton", - "musculature", - "forelimb long bone", - "abnormal size of skull", - "forelimb", - "Abnormal forebrain morphology", - "heart", - "organic substance metabolic process", + "Abnormality of the face", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "craniocervical region phenotype", + "main body axis", + "subdivision of organism along main body axis", + "Abnormality of the orbital region", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "camera-type eye morphology phenotype", + "biological regulation", + "regulation of cellular biosynthetic process", + "Abnormality of globe size", + "face phenotype", + "head morphology phenotype", + "orbital region", + "regulation of biosynthetic process phenotype", + "subdivision of organism along main body axis phenotype", + "craniocervical region", + "body proper", + "Abnormal nervous system physiology", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "regulation of cellular process", + "craniofacial/craniocervical phenotype", "Abnormality of the head", - "abnormal limb morphology", - "anatomical conduit", - "abnormal skeletal joint morphology in the independent continuant", + "sense organ phenotype", + "simple eye", + "face morphology phenotype", + "homeostatic process phenotype", + "subdivision of head phenotype", + "regulation of cellular biosynthetic process phenotype", + "Abnormal skin morphology", + "increased biological_process", + "increased pigmentation in skin of body", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "Irregular hyperpigmentation", + "ectoderm-derived structure phenotype", + "skin of body phenotype", + "pigmentation", + "Abnormality of the integument", + "endochondral element", + "organism subdivision phenotype", + "multi-limb segment region", + "digit 1 or 5 phenotype", + "limb segment phenotype", + "organism subdivision", + "vision/eye phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "process", + "digit 1 plus metapodial segment", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "regulation of biological process", + "digit 1 phenotype", + "bone of appendage girdle complex", + "integumental system", + "anatomical entity morphology in the manus phenotype", + "independent continuant", + "decreased multicellular organism development", + "decreased length of digit 1", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "decreased size of the digit", + "negative regulation of metabolic process", + "musculature phenotype", + "sense organ", + "anatomical system phenotype", + "craniocervical region morphology phenotype", + "aplasia or hypoplasia of skeleton", + "bone of free limb or fin", + "digit morphology phenotype", + "musculature of body", + "Neurodevelopmental delay", + "pectoral appendage", + "aplasia or hypoplasia of eyeball of camera-type eye", + "sensory system", + "multicellular organism morphology phenotype", + "subdivision of organism along appendicular axis phenotype", + "manus", + "integument phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "bone marrow", + "acropodium region", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "limb bone phenotype", + "manual digit plus metapodial segment", + "protein-containing material entity", + "segment of manus", + "multicellular organismal process", + "limb bone", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormality of skin pigmentation", + "skeleton of limb", + "Abnormality of the skin", + "organ system subdivision phenotype", + "anatomical structure", + "musculature", + "developmental process rate phenotype", + "Abnormal digit morphology", + "anterior region of body", + "skeletal system", + "skin of body", + "Abnormality of the musculoskeletal system", + "decreased length of manual digit 1", + "forelimb skeleton", + "autopod region phenotype", + "taxon specific phenotype", + "paired limb/fin phenotype", + "decreased length of anatomical structure", + "decreased developmental process", + "autopodial extension phenotype", + "Short finger", + "skeleton of manus", + "mesoderm-derived structure", + "paired limb/fin segment phenotype", + "developmental process phenotype", + "lateral structure", + "Short digit", + "upper limb segment", + "appendicular skeleton", + "Abnormal cellular physiology", + "forelimb morphology phenotype", + "limb segment", + "digit 1", + "aplasia or hypoplasia of manual digit", "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "Short long bone", - "abnormal skull morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", + "biological_process", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "entire sense organ system", + "continuant", + "anatomical system physiology phenotype", + "tissue", + "delayed biological_process", + "manual digit morphology in the manus phenotype", + "limb skeleton subdivision", + "nervous system phenotype", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "decreased length of material anatomical entity", + "decreased qualitatively biological_process", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of the hand", + "decreased size of the multicellular anatomical structure", + "decreased qualitatively embryo development", + "skeleton phenotype", + "aplasia or hypoplasia of manual digit 1", + "decreased size of the organism subdivision", + "material anatomical entity", + "bone element", + "mesoderm-derived structure phenotype", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "manus phenotype", + "paired limb/fin", + "specifically dependent continuant", "growth", - "abnormal biological_process", - "kidney", + "Abnormal thumb morphology", + "decreased size of the ectoderm-derived structure", + "subdivision of organism along appendicular axis", + "multicellular organism development phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "multicellular organismal process phenotype", + "manual digitopodium region", + "Abnormal eye morphology", + "manual digit", + "pectoral appendage skeleton", + "quality", + "decreased length of multicellular anatomical structure", "Growth delay", - "lateral structure", - "vessel", + "Abnormal limb bone morphology", + "manus morphology phenotype", + "material anatomical entity phenotype", + "decreased length of digit 1 or 5", + "growth phenotype", + "decreased length of autopodial extension", + "endochondral bone", + "upper limb segment phenotype", + "subdivision of skeleton", + "programmed DNA elimination by chromosome breakage", + "face", + "anatomical entity morphology phenotype", + "Growth abnormality", + "manual digit 1 plus metapodial segment", + "embryo development phenotype", + "manual digit 1 or 5", + "anatomical system", "delayed growth", - "abnormal cardiovascular system", - "absent forelimb zeugopod bone", - "systemic arterial system", - "absent radius bone in the independent continuant", - "abnormal manual digit 1 morphology", - "Absent forearm bone", - "Absent radius", - "absent radius bone in the forelimb", - "Patent ductus arteriosus", - "abnormal cardiovascular system morphology", - "abnormal phalanx of manus morphology", - "abnormal genitourinary system", - "abnormal vasculature", - "abnormal incomplete closing of the anatomical entity", - "abnormal great vessel of heart morphology", - "arterial system", - "blood vasculature", - "long bone", - "material entity", - "negative regulation of biosynthetic process", - "phalanx of manus", - "abnormal limb long bone morphology", - "heart blood vessel", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal coronary vessel morphology", - "nerve", - "heart plus pericardium", - "vasculature of trunk", - "mesopodium region", - "aplasia or hypoplasia of metacarpal bone", - "systemic artery", - "abnormal cell", - "disconnected anatomical group", - "viscus", - "Abnormal heart morphology", - "negative regulation of macromolecule biosynthetic process", - "abnormal vascular system morphology", - "anatomical cluster", - "abnormal blood vessel morphology", - "abnormal artery morphology in the independent continuant", - "great vessel of heart", - "trunk blood vessel", - "Abnormal forearm morphology", - "abnormal artery morphology", - "abnormality of anatomical entity physiology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "Abnormal blood vessel morphology", - "conceptus", - "abnormal incomplete closing of the ductus arteriosus", - "coronary vessel", - "musculature of body", - "artery", - "abnormal opening of the anatomical entity", - "ductus arteriosus", - "abnormal arm", - "Abnormal vascular morphology", - "organism subdivision", - "embryonic cardiovascular system", - "metapodium bone 1", - "paralysed cranial nerve", - "Abnormal cranial nerve morphology", - "Abnormality of the face", - "Abnormality of the cardiovascular system", - "Abnormality of the seventh cranial nerve", - "Cranial nerve paralysis", - "absent anatomical entity in the independent continuant", - "Muscle weakness", - "Abnormal upper limb bone morphology", - "Abnormal peripheral nervous system morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "skeletal muscle organ, vertebrate", - "cranial or facial muscle", - "multi cell part structure", - "Aplasia/Hypoplasia involving the metacarpal bones", - "Abnormality of facial soft tissue", - "Abnormal nervous system physiology", - "main body axis", - "gustatory system", + "limb endochondral element", "phenotype", - "nerve of head region", - "Abnormal skeletal muscle morphology", - "abnormal nerve", - "circulatory organ", - "cranial nerve", - "abnormal phalanx morphology", - "multi-tissue structure", - "abnormal peripheral nervous system morphology", - "craniocervical region musculature", - "axial musculature", - "manual digit digitopodial skeleton", - "craniocervical muscle", - "decreased anatomical entity strength", - "abnormal muscle organ morphology", - "neuron projection bundle", - "Abnormal cranial nerve physiology", - "cranial muscle", - "facial muscle", - "abnormal digit morphology", - "Abnormal 1st metacarpal morphology", - "Partial absence of thumb", - "Aplasia of the 1st metacarpal", - "abnormal anatomical entity morphology in the manus", - "proximal phalanx", - "Aplasia/Hypoplasia of the 1st metacarpal", - "absent metacarpal bone in the metacarpus region", + "Abnormal cell morphology", + "Abnormal appendicular skeleton morphology", + "material entity", + "Macule", + "anatomical collection phenotype", + "limb bone morphology phenotype", + "autopodial skeleton", + "digit 1 or 5", + "bone of appendage girdle complex phenotype", + "decreased size of the manual digit", + "anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively anatomical structure development", + "arm", + "hematopoietic system", + "arm phenotype", + "multicellular organism", + "disconnected anatomical group", + "decreased length of anatomical entity", + "decreased length of organism subdivision", + "paired limb/fin skeleton", + "limb phenotype", + "organ system subdivision", + "orbital region phenotype", + "appendage phenotype", + "manual digit 1 morphology phenotype", + "endochondral element phenotype", + "phenotypic effect", + "size of anatomical entity phenotype", + "regulation of gene expression", + "autopod region morphology phenotype", + "subdivision of head", + "decreased length of manual digit 1 or 5", + "multi-limb segment region phenotype", + "head", + "Abnormality of limb bone", + "pectoral complex", + "size of eyeball of camera-type eye phenotype", + "bone element phenotype", + "biological_process phenotype", + "decreased size of the material anatomical entity", + "multicellular anatomical structure", + "Abnormal skeletal morphology", + "forelimb", "decreased size of the anatomical entity in the pectoral complex", - "aplastic phalanx of manus", - "absent carpal bone in the limb", + "hematopoietic system phenotype", + "appendicular skeletal system", + "eye", + "paired limb/fin segment", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased anatomical structure development", + "digit", + "limb endochondral element phenotype", + "Hyperpigmentation of the skin", + "skeleton of pectoral complex", + "integument", + "decreased length of digit", + "aplasia or hypoplasia of anatomical entity", + "anatomical entity length phenotype", + "regulation of macromolecule metabolic process phenotype", + "skeletal element", + "Bone marrow hypocellularity", + "Abnormality of limbs", + "Abnormality of the eye", + "musculoskeletal system", + "autopodial extension", + "multicellular anatomical structure phenotype", + "anatomical entity phenotype", + "appendage", + "digit plus metapodial segment", + "decreased size of the anatomical structure", + "Localized skin lesion", + "Abnormal hand morphology", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased qualitatively developmental process", + "regulation of biological process phenotype", + "entity", + "subdivision of skeletal system", "occurrent", - "metacarpal bone", - "manual digit 1 metacarpus endochondral element", - "manual digit 1 phalanx endochondral element", - "radius bone", - "Abnormality of the hand", - "abnormal facial nerve", - "manus bone", - "metacarpal bone of digit 1", - "skeleton of manual acropodium", - "metapodium bone", - "digitopodium bone", - "vasculature of organ", - "phalanx", - "aplasia or hypoplasia of metacarpal bone of digit 1", - "Abnormal metacarpal morphology", - "Abnormality of thumb phalanx", - "abnormal face", - "Aplasia of metacarpal bones", - "skeleton of digitopodium", - "aplasia or hypoplasia of phalanx of manus", - "manual digit metacarpus endochondral element", - "metapodial skeleton", + "organ", + "appendicular skeleton morphology phenotype", + "decreased size of the organ", + "skeletal element phenotype", + "endochondral bone phenotype", + "Postnatal growth retardation", + "skeletal system phenotype", + "anatomical structure phenotype", + "bone of free limb or fin phenotype", + "decreased length of manual digit", + "limb morphology phenotype", + "organ phenotype", + "manual digit phenotype", + "pigmentation phenotype", + "Hypermelanotic macule", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the upper limbs", + "digit phenotype", + "appendage girdle complex", + "regulation of gene expression phenotype", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "hemolymphoid system", + "immune system", + "system", + "bone marrow cell", + "Abnormality of the upper limb", + "limb", + "cell", + "non-connected functional system", + "skeletal system morphology phenotype", + "cell phenotype", + "Abnormal cellular phenotype", + "Abnormality of the immune system", + "negative regulation of macromolecule metabolic process", + "Abnormal bone marrow cell morphology", + "Abnormality of blood and blood-forming tissues", + "skeleton", + "immune system phenotype", + "embryo development", + "embryo development rate phenotype", + "Short thumb", + "Intrauterine growth retardation", + "negative regulation of gene expression phenotype", + "segment of autopod", + "multicellular organism development", + "regulation of cellular process phenotype", + "anatomical structure development", + "biological_process rate phenotype", + "decreased qualitatively multicellular organism development", + "decreased multicellular organismal process", + "developmental process", + "anatomical structure development phenotype", + "negative regulation of biosynthetic process", + "decreased qualitatively multicellular organismal process", + "decreased embryo development", + "increased pigmentation", + "increased biological_process in skin of body", + "Cafe-au-lait spot", + "Microphthalmia", + "Multiple cafe-au-lait spots", + "decreased size of the sense organ", + "skin of body morphology phenotype", ], }, { - "id": "MONDO:0054748", + "id": "MONDO:0012186", "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group S", - "xref": ["GARD:16264", "OMIM:617883"], + "name": "Fanconi anemia complementation group I", + "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.", "provided_by": "phenio_nodes", + "xref": [ + "DOID:0111091", + "GARD:15448", + "MEDGEN:323016", + "MESH:C563802", + "NCIT:C129026", + "OMIM:609053", + "UMLS:C1836861", + ], "synonym": [ - "FANCS", - "Fanconi anemia, complementation GROUP S", - "Fanconi anemia, complementation group S", + "FANCI", + "Fanconi Anemia, complementation Group 1", + "Fanconi Anemia, complementation group type 1", + "Fanconi anaemia complementation group type I", + "Fanconi anemia complementation group I", + "Fanconi anemia complementation group type I", + "Fanconi anemia, complementation group I", ], "namespace": 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"HP:0000463", - "HP:0000189", - "HP:0001572", - "HP:0000286", - "HP:0009623", + "HP:0000089", + "HP:0000365", + "HP:0001331", + "HP:0005528", ], "has_phenotype_label": [ - "Chromosome breakage", - "Ovarian neoplasm", - "Underdeveloped nasal alae", - "Delayed speech and language development", - "Intellectual disability", + "Neutropenia", + "Hypoplasia of the radius", + "Duodenal atresia", + "Optic disc pallor", + "Patent foramen ovale", + "Triangular face", + "Myopia", + "Absent radius", + "Thrombocytopenia", + "Short thumb", + "Atrial septal defect", + "Intrauterine growth retardation", + "Conductive hearing impairment", + "Short neck", + "Absent thumb", + "Astigmatism", + "Hypothyroidism", + "Fused cervical vertebrae", + "Colpocephaly", "Microcephaly", - "Upslanted palpebral fissure", - "Hypertelorism", - "Blepharophimosis", - "Long eyelashes", + "Atresia of the external auditory canal", + "Decreased body weight", + "Reduced circulating growth hormone concentration", "Microphthalmia", - "Dental malocclusion", - "Prominent nasal bridge", - "Low anterior hairline", + "Chiari malformation", + "Optic nerve hypoplasia", "Global developmental delay", - "Breast carcinoma", - "Ovarian carcinoma", - "Thick upper lip vermilion", - "Clinodactyly", + "Chromosomal breakage induced by crosslinking agents", + "Vesicoureteral reflux", + "Patent ductus arteriosus", + "Bone marrow hypocellularity", + "Abnormal cardiovascular system morphology", + "Cafe-au-lait spot", "Anemia", - "Failure to thrive", - "Sparse hair", - "Coarse facial features", - "Ataxia", + "Ventricular septal defect", + "Short 1st metacarpal", + "Abnormal renal morphology", + "Small pituitary gland", + "Horseshoe kidney", + "Agenesis of corpus callosum", "Short stature", - "Anteverted nares", - "Narrow palate", - "Macrodontia", - "Epicanthus", - "Proximal placement of thumb", + "Renal hypoplasia", + "Hearing impairment", + "Absent septum pellucidum", + "Bone marrow hypocellularity", ], - "has_phenotype_count": 30, + 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"HP:0000076", + "UBERON:0009856", + "UBERON:0000477", + "UPHENO:0002377", ], "has_phenotype_closure_label": [ - "abnormal anatomical entity morphology in the manus", - "segment of manus", - "Proximal placement of thumb", - "digit 1 or 5", - "manual digit", - "manual digit 1 plus metapodial segment", - "deviation of manual digit", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 1 morphology", - "multi-limb segment region", - "pectoral complex", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal arm", - "abnormal manus morphology", - "upper limb segment", - "abnormal manus", - "skin of eyelid", - "skin of head", - "head or neck skin", - "abnormal skin of face morphology", - "upper eyelid", - "epicanthal fold", - "zone of skin", - "calcareous tooth", - "Abnormality of dental morphology", - "increased size of the calcareous tooth", - "Macrodontia", - "tooth-like structure", - "decreased width of the secondary palate", - "abnormal secondary palate morphology", - "Abnormal palate morphology", - "abnormal roof of mouth morphology", - "external naris", - "abnormal external naris", - "Anteverted nares", - "Abnormal nostril morphology", + "number of anatomical enitites of type tissue phenotype", + "absent tissue in the multicellular organism", + "absent ectoderm-derived structure in the brain ventricle/choroid plexus", + "Abnormal septum pellucidum morphology", + "absent septum pellucidum", + "lamina", + "gray matter", + "absent multicellular anatomical structure in the brain ventricle/choroid plexus", + "absent lamina", + "lamina phenotype", + "absent ectoderm-derived structure in the brain ventricle", + "absent tissue", + "septum pellucidum phenotype", + "absent material anatomical entity in the brain ventricle", + "absent anatomical entity in the brain ventricle", + "gray matter of telencephalon", + "Renal hypoplasia", + "Renal hypoplasia/aplasia", + "kidney hypoplasia", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "delayed biological_process", - "delayed growth", - "abnormal size of multicellular organism", - "vestibular behavior", - "somatic sensation related behavior", - "sensation behavior", - "abnormally decreased rate of behavior process", - "cognitive behavior", - "decreased motor coordination", - "perception behavior by means", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "skin of face", - "regional part of brain", - "Eumetazoa", - "postcranial axial skeleton", - "cellular organisms", - "thoracic segment of trunk", - "abnormal digit", "decreased size of the multicellular organism", - "Abnormality of skull size", - "skeleton", - "secondary palate", - "organism", - "Abnormal hand morphology", - "Metazoa", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "abnormal forehead", - "anatomical collection", - "All", - "Abnormal nervous system morphology", - "abnormal limb bone", - "abnormal nervous system morphology", - "abnormal central nervous system morphology", - "multi-tissue structure", - "root", - "appendage", - "Abnormal facial shape", - "cognition", - "decreased size of the anatomical entity", - "multicellular organismal process", - "obsolete cellular aromatic compound metabolic process", - "anatomical row", - "Neurodevelopmental abnormality", - "Gonadal neoplasm", - "abnormality of anatomical entity physiology", - "Abnormal nervous system physiology", - "Aplasia/Hypoplasia affecting the eye", - "Deviation of the thumb", - "abnormal dentition", + "size of multicellular organism phenotype", + "absent brain commissure", + "number of anatomical enitites of type axon tract phenotype", + "absent corpus callosum", + "Thin corpus callosum", + "cerebral subcortex", + "cerebral hemisphere morphology phenotype", + "number of anatomical enitites of type nervous system commissure phenotype", + "absent nervous system commissure", + "corpus callosum morphology phenotype", + "number of anatomical enitites of type intercerebral commissure phenotype", + "Aplasia/Hypoplasia of the corpus callosum", + "absent ectoderm-derived structure", + "number of anatomical enitites of type tract of brain phenotype", + "white matter", + "number of anatomical enitites of type commissure of telencephalon phenotype", + "tract of brain phenotype", + "absent anatomical entity in the nervous system", + "tract of brain", + "nervous system commissure", + "Abnormal cerebral white matter morphology", + "absent material anatomical entity in the brain", + "axon tract phenotype", + "commissure of telencephalon phenotype", + "absent neuron projection bundle", + "absent central nervous system cell part cluster", + "absent axon tract", + "absent commissure of telencephalon", + "Agenesis of corpus callosum", + "absent anatomical entity in the brain", + "cerebral hemisphere white matter", + "absent dorsal telencephalic commissure", + "brain commissure phenotype", + "Aplasia/Hypoplasia of the cerebral white matter", + "absent multi cell part structure", + "number of anatomical enitites of type dorsal telencephalic commissure phenotype", + "absent anatomical entity in the central nervous system", + "white matter of forebrain", + "Abnormal corpus callosum morphology", + "number of anatomical enitites of type central nervous system cell part cluster phenotype", + "commissure of telencephalon", + "Abnormal cerebral subcortex morphology", + "number of anatomical enitites of type multi cell part structure phenotype", + "shape kidney", + "3-D shape anatomical entity", + "Abnormal localization of kidney", + "U-shaped anatomical entity", + "Horseshoe kidney", + "pituitary gland", + "Abnormality of the hypothalamus-pituitary axis", + "reproductive gland morphology phenotype", + "reproductive structure", + "gland of diencephalon", + "reproductive system", + "hypothalamus-pituitary axis", + "decreased size of the gland", + "reproductive system phenotype", + "decreased size of the reproductive gland", + "reproductive organ", + "Abnormality of the diencephalon", + "reproductive organ phenotype", + "decreased size of the reproductive structure", + "Abnormal endocrine morphology", + "reproductive structure phenotype", + "size of pituitary gland phenotype", + "diencephalon morphology phenotype", + "reproductive system morphology phenotype", + "Small pituitary gland", + "Abnormality of the genital system", + "decreased size of the gland of diencephalon", + "Abnormal pituitary gland morphology", + "endocrine system morphology phenotype", + "reproductive gland phenotype", + "decreased size of the pituitary gland", + "kidney", + "kidney morphology phenotype", + "abdomen element phenotype", + "abdomen", + "kidney phenotype", + "axon tract", + "decreased size of the autopod endochondral element", + "decreased length of manual digit bone", + "manual digit 1 metacarpus endochondral element phenotype", + "decreased size of the phalanx endochondral element", + "manual digit bone phenotype", + "manual digit phalanx endochondral element phenotype", + "cell layer phenotype", + "Short phalanx of the thumb", + "Abnormal finger phalanx morphology", + "Abnormal metacarpal morphology", + "phalanx morphology phenotype", + "metacarpal bone of digit 1 phenotype", + "decreased length of limb long bone", + "decreased size of the autopod bone", + "manus bone phenotype", + "manual digit 1 phalanx endochondral element phenotype", + "metapodium bone phenotype", + "decreased size of the forelimb long bone", + "metapodium bone 1", + "manual digitopodium bone", + "manual digit 1 phalanx", + "metapodium region", + "Abnormal 1st metacarpal morphology", + "phalanx phenotype", + "decreased size of the digitopodium bone", + "decreased length of manual digitopodium bone", + "autopod endochondral element", + "metacarpus skeleton", + "tissue phenotype", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "aplasia or hypoplasia of manual digit 1 phalanx", + "decreased length of forelimb long bone", + "Abnormality of thumb phalanx", + "phalanx endochondral element", + "autopod bone", + "manual digit metacarpus endochondral element", + "manual digit 1 digitopodial skeleton", + "decreased length of phalanx", + "Aplasia/Hypoplasia involving the metacarpal bones", + "digitopodium bone phenotype", + "phalanx", + "digitopodium bone", + "manus bone", + "metacarpal bone", + "manual digit 1 metacarpus endochondral element", + "decreased length of metacarpal bone", + "manual digit 1 phalanx phenotype", + "phalanx endochondral element phenotype", + "acropodial skeleton", + "metapodium bone 1 phenotype", + "skeleton of digitopodium", + "individual digit of digitopodial skeleton", + "decreased length of manus bone", + "aplasia or hypoplasia of metacarpal bone", + "incomplete closing of the interventricular septum", + "interventricular septum", + "interventricular septum morphology phenotype", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "Abnormal cardiac ventricle morphology", + "Anemia", + "Abnormal erythroid lineage cell morphology", + "erythrocyte morphology phenotype", + "erythroid lineage cell", + "Abnormal skin morphology", + "increased biological_process", + "Irregular hyperpigmentation", + "pigmentation", + "Abnormality of skin pigmentation", + "Hypermelanotic macule", + "Hyperpigmentation of the skin", + "skin of body morphology phenotype", + "pigmentation phenotype", + "Cafe-au-lait spot", + "increased biological_process in skin of body", + "integumental system", + "cerebral hemisphere gray matter", + "skin of body", + "Bone marrow hypocellularity", + "artery morphology phenotype", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "Abnormality of multiple cell lineages in the bone marrow", + "blood vessel phenotype", + "coronary vessel morphology phenotype", + "incomplete closing of the vessel", + "incomplete closing of the heart blood vessel", + "vascular system morphology phenotype", + "incomplete closing of the systemic artery", + "incomplete closing of the ductus arteriosus", + "embryonic cardiovascular system", + "anatomical cluster phenotype", + "great vessel of heart", + "trunk blood vessel phenotype", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "arterial system", + "blood vessel", + "vessel phenotype", + "arterial blood vessel phenotype", + "heart vasculature", + "blood vasculature", + "incomplete closing of the artery", + "decreased size of the phalanx", + "incomplete closing of the thoracic segment blood vessel", + "thoracic segment blood vessel", + "conceptus", + "vasculature", + "coronary vessel", + "outflow tract", + "Patent ductus arteriosus", + "multicellular anatomical structure morphology in the heart phenotype", + "vasculature phenotype", + "decreased length of metapodium bone 1", + "ureter", + "upper urinary tract", + "genitourinary system phenotype", + "upper urinary tract phenotype", + "mesoderm-derived structure physiology phenotype", + "renal system", + "lower urinary tract", + "absent mesoderm-derived structure in the forelimb", + "appendage girdle complex", + "subdivision of head", + "absent bone of appendage girdle complex", + "diencephalon phenotype", + "Abnormal platelet morphology", + "absent organ", + "absent anatomical structure in the brain ventricle/choroid plexus", + "decreased size of the organ", + "absent endochondral element in the forelimb", + "absent forelimb bone in the limb", + "Vertebral fusion", + "absent skeletal element in the limb", + "Abnormality of the thyroid gland", + "absent anatomical entity in the forelimb", + "absent endochondral bone in the limb", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "absent mesoderm-derived structure", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "absent anatomical entity in the brain ventricle/choroid plexus", + "absent anatomical structure in the forelimb", + "blood vessel morphology phenotype", + "absent endochondral element in the limb", + "pituitary gland phenotype", + "systemic arterial system", "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "Abnormal cartilage morphology", - "abnormal behavior", - "internal genitalia", - "cellular metabolic process", - "simple eye", - "behavior process", - "abnormal behavior process", - "abnormal nose", - "abnormal size of anatomical entity", - "sensory system", - "gonad", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "Long eyelashes", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia involving the nose", - "skeletal element", - "cartilage tissue", - "nose", - "Decreased head circumference", - "head connective tissue", - "nasal cartilage", - "Abnormality of connective tissue", - "skeletal system", - "Abnormal upper lip morphology", - "Abnormality of mental function", - "ala of nose", - "manual digitopodium region", - "Abnormality of coordination", - "Abnormality of blood and blood-forming tissues", - "Abnormal morphology of the nasal alae", - "Abnormal myeloid cell morphology", - "abnormal craniocervical region", - "abnormal mouth", - "abnormal midface morphology", + "Aplasia involving bones of the upper limbs", + "decreased length of manual digit phalanx endochondral element", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "organ physiology phenotype", + "absent material anatomical entity", + "cerebellum morphology phenotype", + "cerebral hemisphere white matter morphology phenotype", + "Chiari malformation", + "cardiac septum morphology phenotype", + "subdivision of organism along appendicular axis", + "agenesis of anatomical entity", + "decreased length of endochondral element", + "absent limb bone in the limb", + "Abnormality of the integument", + "cardiac atrium", + "absent forelimb bone in the forelimb", + "lateral structure physiology phenotype", + "decreased size of the structure with developmental contribution from neural crest", + "material anatomical entity physiology phenotype", + "absent anatomical structure in the skeletal system", + "duodenum", + "segment of autopod", + "lateral structure phenotype", + "decreased size of the manus bone", + "absent limb bone in the forelimb", + "absent forelimb bone", + "neural crest-derived structure, asymmetrically curved phenotype", + "reproductive gland", + "erythrocyte", + "anatomical entity physiology phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "regulation of biological process phenotype", + "structure with developmental contribution from neural crest physiology phenotype", + "absent cell layer", + "corpus callosum", + "subdivision of skeletal system", + "decreased length of manual digit 1 phalanx", + "absent arm bone in the forelimb", + "cardiac atrium morphology phenotype", + "circulatory organ", + "forelimb long bone phenotype", + "cardiac septum phenotype", + "interatrial septum", + "number of anatomical enitites of type corpus callosum phenotype", + "subdivision of head phenotype", + "opening of the anatomical entity", + "cell phenotype", + "incomplete closing of the anatomical structure", + "Congenital malformation of the great arteries", + "incomplete closing of the material anatomical entity", + "integument", + "subdivision of skeletal system phenotype", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "incomplete closing of the interatrial septum", + "Abnormality of body height", + "decreased size of the mesoderm-derived structure", + "organism substance", + "absent multicellular anatomical structure in the brain ventricle", + "gray matter of forebrain", + "heart plus pericardium", + "septum phenotype", + "incomplete closing of the anatomical entity", + "absent long bone in the forelimb", + "manual digit 1 morphology phenotype", + "septum of telencephalon", + "cardiovascular system", + "septum", "paired limb/fin segment", - "surface structure", - "abnormal size of eyeball of camera-type eye", - "palpebral fissure", - "non-connected functional system", - "Abnormal nasal cartilage morphology", - "set of upper jaw teeth", - "eyelash", - "Abnormality of the nose", - "abnormal face", - "abnormal snout morphology", - "chest", - "abnormal head morphology", - "Abnormal oral cavity morphology", + "Colpocephaly", + "anatomical entity morphology in the heart phenotype", + "hematopoietic system phenotype", + "cranial nerve II morphology phenotype", "Abnormality of head or neck", - "abnormal reproductive system", - "olfactory organ", - "decreased length of anatomical entity in independent continuant", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "zone of organ", - "tissue", - "abnormal limb bone morphology", - "response to stimulus", - "Abnormality of the eye", - "mouth", - "abnormal external nose morphology", - "entire sense organ system", - "continuant", - "decreased growth", - "decreased size of the anatomical entity in the independent continuant", - "abnormal nasal cartilage morphology", - "nasal cartilage hypoplasia", - "structure with developmental contribution from neural crest", - "Language impairment", - "abnormal cartilage element morphology", - "anatomical line", - "anatomical entity hypoplasia in face", - "organ system subdivision", - "decreased length of palpebral fissure", - "erythrocyte", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "head", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "absent forelimb long bone in the forelimb", + "absent anatomical structure in the multicellular organism", + "craniofacial/craniocervical phenotype", + "serotonin secreting cell", + "eyeball of camera-type eye", + "alimentary part of gastrointestinal system morphology phenotype", + "decreased length of forelimb zeugopod bone", + "posterior segment of eyeball", + "All", "central nervous system", - "abnormal connective tissue", "Abnormality of limb bone", - "Deviation of finger", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "Microphthalmia", - "protein-containing material entity", - "abnormal cell morphology", - "connective tissue", - "abnormal skeletal system morphology", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "main body axis", - "regulation of biosynthetic process", - "hair of head", - "nucleic acid metabolic process", - "abnormal brain morphology", - "abnormal cartilage tissue morphology", + "abdomen element", + "homeostatic process phenotype", + "regional part of brain", + "Abnormal fundus morphology", + "Abnormal atrial septum morphology", + "decreased length of limb endochondral element", + "metencephalon morphology phenotype", + "cervical vertebra", + "anterior segment of eyeball morphology phenotype", + "Abnormal anterior eye segment morphology", + "limb phenotype", + "cardiovascular system morphology phenotype", + "fused anatomical entity and bony vertebral centrum", + "axial skeletal system", + "subdivision of vertebral column", + "absent manual digit", + "decreased length of manual digit 1 phalanx endochondral element", + "forelimb zeugopod bone", + "head phenotype", + "nervous system morphology phenotype", + "ectoderm-derived structure physiology phenotype", + "manual digit 1 or 5", + "developmental process", + "negative regulation of metabolic process", + "Optic disc pallor", + "head morphology phenotype", + "forelimb skeleton", + "hormone secretion", + "Triangular face", + "incomplete closing of the blood vessel", + "myeloid cell", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "multicellular anatomical structure, asymmetrically curved phenotype", + "decreased size of the skeletal element", + "vertebral element", + "camera-type eye morphology phenotype", + "sense organ physiology phenotype", + "Atrial septal defect", + "tunica fibrosa of eyeball", + "Morphological central nervous system abnormality", + "organ component layer", + "body proper", + "Abnormal joint morphology", + "Abnormal optic disc morphology", + "brain ventricle", + "regional part of nervous system phenotype", + "systemic artery phenotype", + "Finger aplasia", + "abdominal segment element phenotype", + "visual system", + "mesoderm-derived structure morphology in the heart phenotype", + "number of anatomical enitites of type endochondral bone phenotype", + "Abnormality of the nervous system", + "head", + "decreased size of the endocrine gland", + "Metazoa", + "Abnormal hand morphology", + "cranial neuron projection bundle", + "negative regulation of macromolecule biosynthetic process", + "multi-tissue structure", + "limb long bone phenotype", + "bodily fluid", + "simple eye", + "face morphology phenotype", + "duodenum phenotype", + "Abnormal eye morphology", + "absent tract of brain", + "subdivision of tube phenotype", + "closing of the multicellular anatomical structure", + "organ system subdivision", + "orbital region", + "Abnormal intestine morphology", + "optic disc", + "aplasia or hypoplasia of phalanx of manus", + "multicellular anatomical structure atresia", + "excretory system", + "Abnormal digestive system morphology", + "skull phenotype", + "decreased system process", + "endoderm-derived structure atresia", + "absent bone of appendage girdle complex in the forelimb", + "pectoral appendage", + "absent skeletal element in the forelimb", + "regulation of gene expression", + "digestive tract", + "anatomical system atresia", + "Abnormal ureter physiology", + "anatomical structure physiology phenotype", + "trunk", + "retina", + "sac phenotype", "process", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "eyelid", - "eye", - "scalp", - "musculoskeletal system", - "abnormal cellular metabolic process", - "Coarse facial features", - "material anatomical entity", - "abnormality of nervous system physiology", - "internal female genitalia", - "Abnormal cellular physiology", + "Gastrointestinal atresia", + "tube", + "subdivision of digestive tract phenotype", + "limb bone", + "Fused cervical vertebrae", "Abnormality of the head", - "organic substance metabolic process", - "chromatin organization", - "Delayed speech and language development", - "Abnormality of limbs", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "Growth delay", - "abnormal biological_process", - "Prominent nasal bridge", - "protein-DNA complex organization", - "anatomical structure", + "heart", + "anatomical conduit", + "Aplasia/Hypoplasia of the 1st metacarpal", + "anatomical structure morphology in the heart phenotype", + "Intestinal atresia", + "arm bone", + "Abnormal ventricular septum morphology", + "closing of the material anatomical entity", + "circulatory system", + "Abnormal small intestine morphology", + "organ part phenotype", + "decreased length of autopodial extension", + "closing of the anatomical entity", + "interatrial septum morphology phenotype", + "formed multi-tissue structure", + "alimentary part of gastrointestinal system phenotype", + "subdivision of organism along main body axis", + "Reduced circulating growth hormone concentration", + "small intestine morphology phenotype", + "multicellular organismal process phenotype", + "ureter physiology phenotype", + "closing of the anatomical system", + "decreased size of the arm bone", + "metacarpus region", + "formed ectoderm-derived structure", + "Abnormality of the digestive system", + "intercerebral commissure phenotype", + "Abnormality of the upper limb", + "alimentary part of gastrointestinal system", + "Atresia of the external auditory canal", + "duodenum morphology phenotype", + "pelvic region of trunk", + "alimentary part of gastrointestinal system atresia", + "thoracic segment organ", + "absent forelimb long bone", + "incomplete closing of the coronary vessel", + "nervous system process phenotype", + "Aplasia/hypoplasia involving the skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "absent digit", + "absent arm bone", + "decreased length of forelimb bone", + "long bone phenotype", + "Aplasia/hypoplasia involving forearm bones", "Eukaryota", "negative regulation of cellular metabolic process", - "abnormal ala of nose morphology", - "Blepharophimosis", - "Intellectual disability", + "limb morphology phenotype", + "fused anatomical entity and vertebra", + "biological regulation phenotype", + "central nervous system cell part cluster", + "forebrain morphology phenotype", + "decreased length of forelimb endochondral element", + "absent anatomical structure", + "lateral structure", + "absent limb long bone in the forelimb", + "intestine morphology phenotype", + "arm", + "number of leukocyte phenotype", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "cellular organisms", + "external acoustic meatus phenotype", + "Abnormal neutrophil count", + "erythroid lineage cell morphology phenotype", + "limb segment phenotype", + "number of cell phenotype", + "compound organ physiology phenotype", + "decreased size of the multicellular anatomical structure", + "organism", + "irregular bone", + "decreased length of bone of pectoral complex", + "multicellular organism height phenotype", + "forelimb long bone", + "Abnormal posterior eye segment morphology", + "forelimb morphology phenotype", + "Abnormality of the middle ear", + "limb segment", + "decreased size of the anatomical structure in the pectoral complex", + "manual digitopodium region", + "decreased length of digit", + "hematopoietic cell", + "eyeball of camera-type eye phenotype", + "decreased length of digit 1 or 5", + "regulation of biological quality phenotype", + "incomplete closing of the cardiac septum", + "Astigmatism", + "organ subunit", + "anatomical structure", + "absent material anatomical entity in the brain ventricle/choroid plexus", + "ectoderm-derived structure, asymmetrically curved phenotype", + "radius bone hypoplasia", + "systemic artery morphology phenotype", + "decreased biological_process", + "anatomical entity morphology phenotype", + "decreased length of endochondral bone", + "digestive system", + "decreased length of long bone", + "curved anatomical entity", + "Abnormality of the gastrointestinal tract", + "programmed DNA elimination", + "arm bone phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "bone of free limb or fin phenotype", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "vertebra", + "paired limb/fin phenotype", + "tissue", + "forelimb zeugopod bone morphology phenotype", + "concave 3-D shape anatomical entity", + "absent bone of free limb or fin in the forelimb", + "continuant", + "multicellular anatomical structure phenotype", + "decreased number of granulocyte", + "neutrophil", + "Abnormal optic nerve morphology", + "decreased size of the forelimb endochondral element", + "independent continuant", + "Abnormal granulocyte morphology", + "subdivision of tube atresia", + "absent limb long bone", + "digestive system element phenotype", + "anatomical entity atresia", + "telencephalic ventricle", + "Abnormal retinal morphology", + "decreased length of material anatomical entity", + "sensory perception of mechanical stimulus", + "digestive system morphology phenotype", + "structure with developmental contribution from neural crest, asymmetrically curved phenotype", + "absent bone of pectoral complex in the limb", + "decreased number of myeloid cell", + "trunk region element", + "decreased size of the manual digit", + "endoderm-derived structure", + "Abnormal morphology of the great vessels", + "pectoral complex", + "Short metacarpal", "Abnormality of globe size", - "abnormal face morphology", - "pectoral appendage", - "Abnormality of skin adnexa morphology", - "regulation of gene expression", - "obsolete cellular nitrogen compound metabolic process", - "primary subdivision of skull", - "abnormally protruding anatomical entity", - "quality", - "Abnormal skull morphology", - "regulation of cellular metabolic process", - "Abnormality of limb bone morphology", - "abnormal forebrain morphology", - "Abnormal external nose morphology", + "decreased number of hematopoietic cell", + "bone element", + "leukocyte", + "material entity", + "long bone", + "decreased sensory perception of mechanical stimulus", + "negative regulation of biosynthetic process", + "decreased multicellular organism development", + "hemolymphoid system", + "multi-limb segment region phenotype", + "absent bone element", + "long bone morphology phenotype", + "incomplete closing of the mesoderm-derived structure", + "decreased size of the forelimb zeugopod bone", + "cellular process", + "musculature phenotype", + "sense organ", + "decreased length of phalanx endochondral element", + "absent material anatomical entity in the forelimb", + "Neutropenia", + "decreased height of the anatomical entity", + "absent multicellular anatomical structure in the limb", + "Abnormality of the eye", + "hindbrain", + "absent bone of appendage girdle complex in the limb", + "vertebra phenotype", + "renal system morphology phenotype", + "cardiac ventricle morphology phenotype", + "Abnormal granulocyte count", + "organ phenotype", + "Forearm undergrowth", + "Short 1st metacarpal", + "decreased size of the anatomical entity", + "sensory perception of sound", + "Abnormal forearm bone morphology", + "bone of free limb or fin", + "main body axis", + "myeloid leukocyte phenotype", + "increased qualitatively biological_process", "forebrain", - "Abnormal nasal morphology", - "negative regulation of macromolecule biosynthetic process", - "lateral structure", - "regulation of biological process", - "Abnormality of speech or vocalization", - "abnormal DNA metabolic process", - "decreased length of anatomical entity", - "nasal bridge", - "abnormal nervous system", - "Neoplasm", - "Ovarian neoplasm", - "Underdeveloped nasal alae", - "abnormal cellular process", - "Abnormal communication", - "anatomical entity hypoplasia", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "outer epithelium", - "cellular component organization", - "system process", + "absent radius endochondral element in the forelimb", + "radius bone morphology phenotype", + "craniocervical region morphology phenotype", + "axon tract morphology phenotype", + "vascular system", + "aplasia or hypoplasia of skeleton", + "ocular fundus", + "neutrophil phenotype", + "organism subdivision", + "integument phenotype", + "vision/eye phenotype", + "Abnormal bone marrow cell morphology", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Phenotypic abnormality", + "myeloid leukocyte", + "limb endochondral element phenotype", + "granulocyte", + "cardiac chamber", + "eye physiology phenotype", + "decreased qualitatively sensory perception of mechanical stimulus", + "immune system morphology phenotype", + "dorsal telencephalic commissure", + "skeletal system phenotype", + "dorsal telencephalic commissure morphology phenotype", + "digit plus metapodial segment", + "blood cell phenotype", + "decreased number of leukocyte", + "transport", + "absent limb bone", + "limb endochondral element", + "phenotype", + "delayed growth", + "Abnormal hindbrain morphology", "Abnormal cell morphology", - "cranial skeletal system", - "increased length of the epicanthal fold", - "behavior", - "skeleton of upper jaw", - "decreased width of the palpebral fissure", + "closing of the ectoderm-derived structure", + "simple eye physiology phenotype", + "subdivision of digestive tract", + "fused skeletal joint and anatomical entity", + "number of anatomical enitites of type lamina phenotype", + "regulation of cellular biosynthetic process phenotype", + "cell layer", + "viscus", + "pelvic region element phenotype", + "Short forearm", + "nitrogen compound transport phenotype", + "bone of dorsum", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "anatomical conduit atresia", + "decreased length of digitopodium bone", + "regulation of cellular metabolic process phenotype", + "decreased number of cell", + "decreased length of anatomical entity", + "bone of pectoral complex", + "endocrine system", + "immune system", + "chorioretinal region", + "structure with developmental contribution from neural crest phenotype", + "material anatomical entity", + "nucleate cell", "Abnormal appendicular skeleton morphology", - "entity", - "subdivision of skeletal system", - "Abnormal hair pattern", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "olfactory system", - "macromolecule metabolic process", - "Neoplasm of the genitourinary tract", - "obsolete nitrogen compound metabolic process", - "abnormal organelle organization", + "thyroid gland", + "Abnormal myeloid leukocyte morphology", + "number of anatomical enitites of type endochondral element phenotype", + "absent multicellular anatomical structure", + "endochondral bone phenotype", + "Abnormality of the ear", + "cardiac septum", + "Cerebellar malformation", + "anucleate cell", + "shape of continuant phenotype", + "tube phenotype", + "Opisthokonta", + "eye", + "compound organ", + "skeleton of pectoral complex", + "specifically dependent continuant", + "decreased length of arm bone", + "thoracic cavity element", + "retina morphology phenotype", + "Thrombocytopenia", + "great vessel of heart morphology phenotype", + "decreased functionality of the anatomical structure", + "anatomical structure mass phenotype", "regulation of macromolecule biosynthetic process", + "anatomical entity", + "decreased qualitatively biological_process", + "ear phenotype", + "Abnormality of refraction", + "number of anatomical enitites of type skeletal element phenotype", + "peptide secretion", + "absent multicellular anatomical structure in the multicellular organism", + "sensory perception of mechanical stimulus phenotype", + "disconnected anatomical group", "multicellular organism", - "hematopoietic system", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "female reproductive system", - "endochondral element", - "metabolic process", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "deviation of anatomical entity towards the middle", - "Abnormality of the palpebral fissures", - "abnormal spatial pattern of anatomical entity", - "abnormal response to stimulus", - "sense organ", - "abnormal skin epidermis morphology", - "Abnormal skeletal morphology", - "abnormally decreased rate of motor coordination", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal craniocervical region morphology", + "skeleton", + "trunk blood vessel", + "absent radius endochondral element", + "Eumetazoa", + "number of hematopoietic cell phenotype", + "face phenotype", + "Abnormality of the bladder", + "closing of the anatomical structure", + "dorsum", + "Abnormal leukocyte count", + "decreased functionality of the endocrine gland", + "Abnormal duodenum morphology", + "cavitated compound organ", + "incomplete closing of the septum", + "motile cell", + "metacarpal bone phenotype", + "skeletal system", + "sensory system", + "cervical vertebra phenotype", + "multicellular anatomical structure, curved phenotype", + "multicellular organism morphology phenotype", + "Abnormal cellular immune system morphology", + "eye phenotype", + "urinary bladder physiology phenotype", + "urinary bladder phenotype", + "absent intercerebral commissure", + "system", + "regulation of gene expression phenotype", + "decreased size of the limb long bone", + "Abnormal cardiac atrium morphology", + "bone marrow", + "fused vertebra and bony vertebral centrum", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "Microcephaly", + "regulation of metabolic process phenotype", + "decreased number of anatomical structure", + "material anatomical entity atresia", + "bone cell", + "skeletal system morphology phenotype", + "fused cervical vertebra and anatomical entity", + "Patent foramen ovale", + "heart morphology phenotype", + "decreased functionality of the structure with developmental contribution from neural crest", + "closing of the subdivision of digestive tract", + "negative regulation of biological process phenotype", + "granulocyte morphology phenotype", + "taxon specific phenotype", + "Abnormal renal morphology", + "radius endochondral element", + "zeugopod", + "anatomical system phenotype", + "regulation of biosynthetic process phenotype", + "skeletal element", + "metapodium bone", + "Abnormality of limbs", + "craniocervical region phenotype", + "cornea morphology phenotype", + "duodenum atresia", + "Localized skin lesion", + "musculature", + "Aplasia/Hypoplasia of the phalanges of the hand", + "decreased number of neutrophil", + "digestive system phenotype", + "number of anatomical enitites of type granulocyte phenotype", "Abnormal cellular phenotype", - "anatomical line between pupils", - "independent continuant", - "abnormal growth", - "cartilage element", - "organic cyclic compound metabolic process", - "reproductive system", - "segment of autopod", - "nucleobase-containing compound metabolic process", - "Abnormal scalp morphology", - "Abnormality of the female genitalia", - "body proper", - "decreased height of the anatomical entity", - "regulation of cellular process", - "manus", - "abnormal eyelid morphology", - "Abnormal digit morphology", - "Abnormality of the face", - "ovary", - "manual digit 1", - "Decreased body weight", - "autopodial extension", - "regulation of metabolic process", - "forehead", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "morphological feature", - "Abnormal nasal bridge morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "occurrent", - "organ", - "Dental malocclusion", - "abnormal anatomical entity", + "multi-limb segment region", + "ventricle of nervous system", + "absent organ in the forelimb", + "decreased size of the bone element", + "decreased length of autopod bone", + "subdivision of digestive tract atresia", + "quality", + "central nervous system cell part cluster phenotype", + "anatomical collection phenotype", + "vessel", + "decreased size of the sense organ", + "anatomical system", + "decreased size of the anatomical entity in the pectoral complex", + "increased pigmentation", + "Abnormal skeletal morphology", + "forelimb", + "decreased number of anatomical entity", + "Abnormal forebrain morphology", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "organ system subdivision phenotype", + "simple eye phenotype", + "growth hormone secretion phenotype", + "gland of diencephalon phenotype", + "anatomical wall", + "decreased length of autopod endochondral element", + "absent bone of free limb or fin", + "bone of appendage girdle complex", + "skin of body phenotype", "ectoderm-derived structure", - "Slanting of the palpebral fissure", - "abnormal female reproductive system", - "abnormal palpebral fissure", - "abnormal skull morphology", - "reproductive organ", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "orifice", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "prominent upper lip", - "abnormal zone of skin morphology", - "abnormal ovary", - "Abnormal morphology of female internal genitalia", - "subdivision of skeleton", + "decreased length of limb bone", + "secretion phenotype", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "formed regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Abnormality of body weight", + "mesoderm-derived structure", + "absent organ in the multicellular organism", + "multicellular organismal process", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormality of the hand", + "absent forelimb endochondral element", + "skeleton phenotype", + "Hypoplasia of the radius", + "decreased size of the digit", + "zeugopodial skeleton", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "forelimb bone", + "absent anatomical structure in the brain ventricle", + "camera-type eye", + "Abnormality of the orbital region", + "decreased length of skeletal element", + "absent multicellular anatomical structure in the brain", + "absent forelimb endochondral element in the forelimb", + "endocrine gland physiology phenotype", + "entire sense organ system", + "absent bone of pectoral complex", + "asymmetrically curved cornea", + "Synostosis of joints", + "Aplasia involving bones of the extremities", + "nervous system phenotype", + "endocrine gland morphology phenotype", + "Macule", + "anatomical collection", + "cranial nerve II", + "regulation of macromolecule metabolic process phenotype", + "Aplasia involving forearm bones", + "skeleton of limb", + "Abnormality of the urinary system", + "closing of the subdivision of tube", + "neck morphology phenotype", + "cardiovascular system phenotype", + "manual digit phalanx endochondral element", + "photoreceptor array", + "Abnormality of the immune system", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Short long bone", + "decreased length of bone of free limb or fin", + "number of anatomical enitites of type brain commissure phenotype", + "forelimb endochondral element", + "limb bone phenotype", + "secretory cell", + "anatomical entity morphology in the skeleton of manus phenotype", + "decreased anatomical structure development", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "decreased size of the bone of pectoral complex", + "formed regional part of nervous system", + "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", + "phalanx of manus phenotype", + "decreased size of the bone of free limb or fin", + "decreased length of anatomical structure", + "absent bone element in the forelimb", + "ocular surface region morphology phenotype", + "white matter of telencephalon", + "decreased size of the limb bone", + "Abnormal leukocyte morphology", + "axial skeleton plus cranial skeleton", + "mesoderm-derived structure phenotype", + "external ear", + "decreased length of bone of appendage girdle complex", + "aplastic forelimb zeugopod bone", + "glandular system", + "subdivision of trunk", + "Abnormal thumb morphology", + "fused anatomical entity and anatomical entity", + "decreased size of the long bone", + "Absent forearm bone", + "decreased size of the material anatomical entity", + "forelimb zeugopod bone hypoplasia", + "Abnormal cerebellum morphology", + "anterior region of body", + "decreased length of manual digit 1", "endochondral bone", - "genitourinary system", - "material entity", - "female reproductive organ", - "negative regulation of biosynthetic process", - "hairline", - "Morphological central nervous system abnormality", - "increased size of the anatomical entity", + "endochondral element phenotype", + "subdivision of skeleton", + "autopod bone phenotype", + "Aplasia/Hypoplasia of the radius", + "decreased size of the autopodial extension", + "manus", + "number of anatomical enitites of type anatomical entity phenotype", + "sensory perception", + "phenotypic effect", + "size of anatomical entity phenotype", + "digestive system element", + "decreased length of multicellular anatomical structure", + "radius bone phenotype", + "decreased length of mesoderm-derived structure", + "formed material anatomical entity", + "Abnormal upper limb bone morphology", + "negative regulation of macromolecule metabolic process", + "cell", + "Abnormality of the curvature of the cornea", "limb", - "disconnected anatomical group", - "abnormal cell", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "face", - "abnormal orbital region", - "Abnormal eyelash morphology", - "axial skeletal system", + "material anatomical entity phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "Abnormal morphology of the radius", + "decreased size of the limb endochondral element", + "acropodium region", + "signal release phenotype", + "anatomical structure atresia", + "organ part atresia", + "upper limb segment phenotype", + "decreased length of bone element", + "multi cell part structure", + "limb long bone morphology phenotype", + "aplasia or hypoplasia of corpus callosum", + "anatomical entity length phenotype", + "decreased qualitatively multicellular organism development", + "digit", + "Abnormality of the kidney", + "orbital region phenotype", + "appendage phenotype", + "organism subdivision phenotype", + "forelimb bone phenotype", + "sense organ phenotype", + "localization phenotype", + "decreased size of the forelimb bone", + "cerebral hemisphere", + "bone of pectoral complex phenotype", + "phalanx of manus", + "number of anatomical enitites of type bone element phenotype", + "decreased size of the bone of appendage girdle complex", + "anatomical entity hypoplasia", + "endochondral element", + "Aplasia/hypoplasia involving bones of the extremities", + "small intestine phenotype", + "appendicular skeletal system", + "forelimb zeugopod morphology phenotype", + "Abnormality of the cervical spine", + "Upper limb undergrowth", + "Abnormal immune system morphology", + "Abnormality of thrombocytes", + "manual digitopodium bone phenotype", + "limb skeleton subdivision", + "absent material anatomical entity in the skeletal system", + "skull", + "Abnormal facial shape", + "root", + "incomplete closing of the trunk blood vessel", + "decreased multicellular organismal process", + "ectoderm-derived structure atresia", + "anatomical entity phenotype", + "decreased length of organ", + "aplasia or hypoplasia of eyeball of camera-type eye", + "appendage", + "bone of pectoral complex morphology phenotype", + "decreased size of the anatomical structure", + "organ", + "anatomical entity mass phenotype", + "Decreased anatomical entity mass", + "entity", + "appendicular skeleton morphology phenotype", + "bone of appendage girdle complex phenotype", + "decreased vibrational conductance of sound to the inner ear", + "leukocyte morphology phenotype", + "skeletal element phenotype", + "fused anatomical entity and skeletal joint", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "absent limb endochondral element", + "bone element phenotype", + "vestibulo-auditory system", + "endoderm-derived structure physiology phenotype", + "material anatomical entity morphology in the heart phenotype", + "absent limb endochondral element in the limb", + "neuron projection bundle", + "absent endochondral bone in the forelimb", + "absent material anatomical entity in the multicellular organism", + "sac", + "formed cerebellum", + "autopod region phenotype", + "absent radius bone in the forelimb", + "aplastic anatomical entity", + "nitrogen compound transport", + "malformed anatomical entity", + "absent forelimb endochondral element in the limb", + "embryo development rate phenotype", + "absent long bone", + "absent material anatomical entity in the limb", + "absent bone element in the limb", + "decreased size of the reproductive organ", + "camera-type eye physiology phenotype", + "Absent radius", + "decreased multicellular anatomical structure mass", + "Abnormal size of pituitary gland", "Growth abnormality", - "upper lip", - "nervous system", - "Narrow palpebral fissure", - "Abnormality of the genital system", - "abnormal phenotype by ontology source", - "Abnormal hair morphology", - "Abnormal thumb morphology", - "subdivision of trunk", - "decreased qualitatively biological_process", - "anatomical entity", - "telencephalon", - "abnormal oral cavity morphology", - "integumentary projection", - "anterior region of body", - "Congenital abnormal hair pattern", - "Abnormality of the ovary", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "reproductive structure", - "anatomical system", - "skeletal tissue", - "Cognitive impairment", - "negative regulation of cellular biosynthetic process", - "organ subunit", - "abnormal internal genitalia", - "abnormal anatomical entity morphology in the brain", - "visual system", - "Genital neoplasm", - "external integument structure", + "platelet", + "pelvic region element", + "Abnormal heart morphology", + "platelet phenotype", + "middle ear", + "number of platelet phenotype", + "regulation of biological process", + "decreased number of platelet", + "absent organ in the limb", + "Abnormal platelet count", + "Short finger", + "negative regulation of metabolic process phenotype", + "decreased size of the endochondral bone", + "aplasia or hypoplasia of manual digit 1", + "anatomical entity morphology in the manus phenotype", + "cornea, curved phenotype", + "cervical region of vertebral column", + "articulation", + "autopodial skeleton", + "fused vertebra and anatomical entity", + "digit 1 or 5", + "absent endochondral element", + "segmental subdivision of hindbrain", + "manual digit", + "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype", + "manual digit 1 plus metapodial segment", + "decreased length of organism subdivision", + "gland phenotype", + "brain white matter morphology phenotype", + "decreased size of the organism subdivision", + "thyroid gland physiology phenotype", + "manus morphology phenotype", + "immune system phenotype", + "digit phenotype", + "number of anatomical enitites of type anatomical structure phenotype", + "skeleton of manus", + "segment of manus", + "digitopodium region", + "manual digit 1", + "artery phenotype", + "autopodial extension", + "Decreased body weight", + "metacarpal bone of digit 1 morphology phenotype", + "decreased size of the ectoderm-derived structure", + "pectoral appendage skeleton", + "regulation of metabolic process", + "nervous system commissure phenotype", + "metacarpal bone of digit 1", + "Aplasia/Hypoplasia of fingers", + "organic substance transport", + "digit 1", + "Aplasia/Hypoplasia of the cerebrum", + "absent multicellular anatomical structure in the skeletal system", + "decreased length of manual digit", + "viscus phenotype", + "regional part of nervous system", + "closing of the endoderm-derived structure", + "Aplasia/Hypoplasia of the thumb", + "septum pellucidum", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal digit morphology", + "digit morphology phenotype", + "digit 1 or 5 phenotype", + "irregular bone phenotype", + "autopodial extension phenotype", + "vertebral column phenotype", + "Abnormality of joint mobility", + "digit 1 plus metapodial segment", + "manual digit plus metapodial segment", + "oxygen accumulating cell", + "manual digit phenotype", + "decreased developmental process", + "amide transport", + "Short thumb", + "absent bone of free limb or fin in the limb", + "Abnormal myeloid cell morphology", + "segmental subdivision of nervous system", + "vertebral column morphology phenotype", + "autopod region", + "decreased length of manual digit 1 or 5", + "arterial blood vessel", + "anatomical structure development", + "appendicular skeleton", + "Short digit", + "autopod endochondral element phenotype", + "autopod region morphology phenotype", + "decreased length of digit 1", + "material anatomical entity, curved phenotype", + "endocrine gland phenotype", + "Absent septum pellucidum", + "embryo development phenotype", + "Abnormality of the ureter", + "systemic artery", + "delayed biological_process", + "brain gray matter", + "embryo development", + "hypothalamus-pituitary axis phenotype", + "decreased functionality of the gland", + "decreased qualitatively developmental process", + "decreased functionality of the multicellular anatomical structure", + "Intrauterine growth retardation", + "absent multicellular anatomical structure in the forelimb", + "neuron projection bundle phenotype", + "decreased qualitatively embryo development", + "metacarpal bone morphology phenotype", + "Abnormal ear physiology", + "decreased qualitatively anatomical structure development", + "Growth delay", + "multicellular organism development", + "developmental process phenotype", + "external acoustic meatus atresia", + "radius bone", + "growth phenotype", + "Abnormality of the endocrine system", + "occurrent", + "middle ear phenotype", + "Myopia", + "anatomical structure development phenotype", + "Abnormality of the skin", + "biological_process rate phenotype", + "absent anatomical structure in the limb", + "decreased qualitatively multicellular organismal process", + "Hearing impairment", + "limb bone morphology phenotype", + "nervous system process", + "number of myeloid cell phenotype", + "ear morphology phenotype", + "multi organ part structure physiology phenotype", + "decreased qualitatively nervous system process", + "digit 1 phenotype", + "multi organ part structure", + "face", + "decreased functionality of the thyroid gland", + "ear physiology phenotype", + "multi organ part structure phenotype", + "Conductive hearing impairment", + "middle ear physiology phenotype", + "system process", + "sensory perception phenotype", + "decreased qualitatively sensory perception of sound", + "decreased length of phalanx of manus", + "decreased qualitatively system process", + "decreased sensory perception of sound", + "nervous system", + "anatomical system physiology phenotype", + "Abnormal ear morphology", + "incomplete closing of the anatomical conduit", "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "organelle organization", + "absent organism subdivision in the multicellular organism", + "ductus arteriosus", + "sensory perception of sound phenotype", + "system process phenotype", + "decreased nervous system process", + "subdivision of organism along main body axis phenotype", + "cervical vertebra endochondral element phenotype", + "subdivision of tube", + "establishment of localization", + "cell-cell signaling", + "increased pigmentation in skin of body", + "ductus arteriosus morphology phenotype", + "cranial neuron projection bundle phenotype", + "manual digit bone", + "decreased sensory perception", + "developmental process rate phenotype", + "closing of the anatomical conduit", + "Functional abnormality of the bladder", + "ear", + "gland morphology phenotype", + "neck bone phenotype", + "metapodial skeleton", + "negative regulation of cellular biosynthetic process", + "haemolymphatic fluid", + "bone of dorsum phenotype", + "dorsal part of neck", + "Short stature", + "Abnormality of the vertebral column", + "postcranial axial skeleton", + "protein-containing material entity", + "Abnormal neck morphology", + "optic disc morphology phenotype", + "negative regulation of gene expression", + "dorsal region element phenotype", + "neck phenotype", + "Abnormality of the neck", + "trunk or cervical vertebra", + "Abnormality of the cardiovascular system", + "dorsal region element", + "Abnormal limb bone morphology", + "decreased length of neck", + "central nervous system morphology phenotype", + "cervical vertebra endochondral element", + "cervical region", + "Abnormal axial skeleton morphology", + "vertebral column", "postcranial axial skeletal system", - "paired limb/fin skeleton", - "female organism", - "abnormal internal female genitalia morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal female reproductive system morphology", - "multicellular anatomical structure", - "abnormal genitourinary system", - "abnormal scalp", - "Abnormality of brain morphology", - "craniocervical region", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormal nose morphology", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "deviation of manual digit 1", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal female reproductive organ morphology", - "digestive tract", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "forelimb", - "Abnormal forebrain morphology", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "hemolymphoid system", + "vibrational conductance of sound to the inner ear", + "bladder organ physiology phenotype", + "neck", + "vertebral element phenotype", + "aplastic manual digit 1", + "absent organism subdivision", + "diencephalon", + "absent autopodial extension", "organ part", - "abnormal ocular adnexa", - "roof of mouth", - "Abnormality of the orbital region", - "Sparse hair", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "orbital region", - "Abnormal ocular adnexa morphology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "decreased size of the eyeball of camera-type eye", - "Abnormal eyelid morphology", - "digit 1", - "Abnormal thorax morphology", - "abnormal strand of hair", - "ocular adnexa", - "camera-type eye", - "prominent anatomical entity", - "Abnormality of the hand", - "Anemia", - "increased length of the anatomical entity", - "abnormal location of anatomical entity", - "Clinodactyly", - "abnormal eyeball of camera-type eye", - "Abnormality of globe location", - "skeleton of limb", - "increased anatomical entity length in independent continuant", - "abnormal upper lip morphology", - "Hypertelorism", - "motor coordination", - "Abnormal eye morphology", - "deviation of digit towards the middle", - "abnormal anatomical entity topology in independent continuant", - "abnormal location of eyeball of camera-type eye", - "eyeball of camera-type eye", - "abnormal integument", - "decreased qualitatively growth", + "number of anatomical enitites of type organism subdivision phenotype", + "U-shaped kidney", + "skeleton of manual digitopodium", + "Absent thumb", + "absent forelimb zeugopod bone in the forelimb", + "shape anatomical entity", + "ventricular system of brain", + "structure with developmental contribution from neural crest, curved phenotype", + "renal pelvis/ureter", + "material anatomical entity, asymmetrically curved phenotype", + "primary circulatory organ", + "ectoderm-derived structure, curved phenotype", + "cornea", + "anterior segment of eyeball", + "shape cornea", + "Abnormal eye physiology", + "multicellular organism development phenotype", + "asymmetrically curved anatomical entity", + "curvature anatomical entity", + "manual digit morphology in the manus phenotype", + "neural crest-derived structure phenotype", + "fused vertebra and vertebra", + "neural crest-derived structure, curved phenotype", + "neck bone", + "intestine atresia", + "ventricular system of central nervous system", + "cornea phenotype", + "Decreased head circumference", + "regulation of macromolecule biosynthetic process phenotype", + "anatomical structure, asymmetrically curved phenotype", + "ocular surface region", + "brain morphology phenotype", + "absent mesoderm-derived structure in the limb", + "anatomical structure, curved phenotype", + "Hypothyroidism", + "interatrial septum perforation", + "craniocervical region", + "endocrine system phenotype", + "decreased functionality of the anatomical entity", + "decreased functionality of the material anatomical entity", + "Abnormality of thyroid physiology", + "decreased functionality of the endoderm-derived structure", + "Abnormal cornea morphology", + "gland", + "decreased functionality of the organ", + "thyroid gland phenotype", + "gland physiology phenotype", + "decreased size of the endochondral element", + "endocrine gland", + "absent radius bone", + "cranial skeletal system", + "anatomical entity dysfunction in independent continuant", + "Duodenal atresia", "Abnormality of chromosome stability", - "immaterial entity", - "abnormal size of palpebral fissure", - "abnormal nasal bridge morphology", - "Abnormal size of the palpebral fissures", - "decreased width of the anatomical entity", - "anatomical projection", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal pilosebaceous unit morphology", - "abnormal skin of body", - "regulation of cellular biosynthetic process", - "epithelium", - "system", - "snout", - "integumental system", - "integument", - "chemosensory system", - "skin of body", - "pilosebaceous unit", - "abnormal autopod region morphology", - "bone of free limb or fin", - "abnormal skin of body morphology", + "cervical vertebra morphology phenotype", + "axial skeleton plus cranial skeleton morphology phenotype", "neural crest-derived structure", - "ecto-epithelium", - "cutaneous appendage", - "skin epidermis", - "primary metabolic process", - "Abnormality of the skin", - "abnormal hematopoietic system", - "Abnormality of the dentition", - "strand of hair", - "phenotype", - "anatomical space", - "paired limb/fin", - "increased length of the strand of hair", - "immaterial anatomical entity", - "abnormal eyelash morphology", + "dorsal part of neck morphology phenotype", + "skeletal joint", + "articulation phenotype", + "Abnormal joint physiology", + "decreased length of manual digit 1 metacarpus endochondral element", + "number of anatomical enitites of type organ phenotype", + "fused skeletal joint and skeletal joint", + "vertebra morphology phenotype", + "Abnormal vertebral morphology", + "decreased number of material anatomical entity", + "articular system", + "negative regulation of biological process", + "fused anatomical entity and cervical vertebra", + "Abnormal musculoskeletal physiology", + "skeletal joint phenotype", + "skeletal joint morphology phenotype", + "absent forelimb zeugopod bone", + "Vertebral segmentation defect", + "decreased embryo development", + "musculoskeletal system phenotype", + "endoderm-derived structure phenotype", + "brain ventricle/choroid plexus", + "brain commissure", + "peptide transport", + "aplasia or hypoplasia of radius bone", + "musculoskeletal system physiology phenotype", + "metencephalon", + "fused cervical vertebra and cervical vertebra", + "incomplete closing of the multicellular anatomical structure", + "decreased qualitatively sensory perception", + "telencephalon morphology phenotype", + "brain ventricle morphology phenotype", + "brain ventricle/choroid plexus morphology phenotype", + "brain white matter", + "negative regulation of cellular process phenotype", + "Abnormal lateral ventricle morphology", + "telencephalon", + "telencephalic ventricle morphology phenotype", + "brain", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "eukaryotic cell", + "Abnormal brain morphology", + "decreased length of manual digit metacarpus endochondral element", + "artery", + "telencephalon phenotype", + "absent bone of pectoral complex in the forelimb", + "size of skull phenotype", + "regional part of brain phenotype", + "intercerebral commissure", + "Abnormal skull morphology", + "pituitary gland morphology phenotype", + "skull morphology phenotype", + "Abnormality of the outer ear", "obsolete cell", - "programmed DNA elimination", - "digestive system", - "subdivision of tube", - "Abnormality of the breast", - "abnormality of multicellular organism mass", - "Abnormal oral morphology", - "Abnormality of digestive system morphology", - "negative regulation of cellular process", - "abnormal limb", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormal cellular component organization", - "midface", - "Abnormal central motor function", - "facial skeleton", - "jaw skeleton", - "abnormal mouth morphology", - "oral cavity", - "Breast carcinoma", - "dentition", - "Thick upper lip vermilion", - "increased length of the eyelash", - "abnormal digestive system", - "Abnormality of body height", - "tube", - "subdivision of digestive tract", - "Tooth malposition", - "Short palpebral fissure", - "acropodium region", - "abnormal head", - "decreased width of the anatomical entity in independent continuant", - "integumentary adnexa", - "jaw region", - "arm", - "tooth row", - "anatomical cavity", - "regional part of nervous system", - "Abnormal midface morphology", - "prominent nasal bridge", - "Abnormality of the scalp hair", - "cellular process", - "Abnormality of the frontal hairline", - "abnormal chest", - "abnormal primary metabolic process", - "Low anterior hairline", - "Abnormality of the hairline", - "appendicular skeletal system", - "abnormal telencephalon morphology", - "Abnormality of the forehead", - "abnormal spatial pattern of strand of hair", - "abnormal hairline", - "Narrow palate", + "urinary bladder", + "material anatomical entity mass phenotype", + "bladder organ phenotype", + "external acoustic meatus morphology phenotype", + "number of anatomical enitites of type neuron projection bundle phenotype", + "Abnormality of blood and blood-forming tissues", + "external ear phenotype", + "intestine phenotype", + "Abnormal auditory canal morphology", + "Aplasia/hypoplasia of the extremities", + "external ear morphology phenotype", + "anatomical conduit phenotype", + "intestine", + "Decreased multicellular organism mass", + "incomplete closing of the arterial blood vessel", + "decreased material anatomical entity mass", + "transport phenotype", + "bone marrow cell", + "biological_process phenotype", + "upper limb segment", + "biological_process", + "multicellular organism phenotype", + "cellular process phenotype", + "forelimb zeugopod bone phenotype", + "decreased anatomical structure mass", + "aplasia or hypoplasia of manual digit", + "multicellular anatomical structure mass phenotype", + "multicellular organism mass phenotype", + "regulation of hormone levels", + "anatomical entity perforation", + "signaling", + "aplasia or hypoplasia of cranial nerve II", + "cavitated compound organ physiology phenotype", + "absent endochondral bone", + "signal release", + "growth hormone secretion", + "camera-type eye phenotype", + "peptide transport phenotype", + "secretion by cell phenotype", + "manual digit metacarpus endochondral element phenotype", + "Abnormal growth hormone level", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "regulation of biological quality", + "Abnormality of neutrophils", + "secretion by cell", + "absent ectoderm-derived structure in the brain", + "peptide secretion phenotype", + "export from cell phenotype", + "trunk or cervical vertebra phenotype", + "chemical entity", "biological regulation", "Global developmental delay", - "biological_process", - "abnormal chest morphology", - "trunk", - "Abnormal breast morphology", - "breast", - "abnormal breast morphology", - "Atypical behavior", - "Neoplasm of the breast", - "abnormal breast", - "abnormal skin of head morphology", - "Ovarian carcinoma", - "naris", - "Abnormality of upper lip vermillion", - "limb bone", - "Thick vermilion border", - "Abnormal lip morphology", - "abnormal lip morphology", - "Abnormality of the genitourinary system", - "blood cell", - "lip", - "Abnormal hair quantity", - "abnormal appendicular skeleton morphology", - "external soft tissue zone", - "digit plus metapodial segment", - "subdivision of organism along appendicular axis", - "limb segment", - "abnormal digit morphology", - "digit", - "bone element", - "skull", - "limb skeleton subdivision", - "appendicular skeleton", - "anatomical conduit", - "abnormal limb morphology", - "bone of appendage girdle complex", - "mesoderm-derived structure", - "limb endochondral element", - "digitopodium region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal erythrocyte morphology", - "myeloid cell", - "Abnormal erythroid lineage cell morphology", - "hematopoietic cell", - "oxygen accumulating cell", - "abnormal myeloid cell morphology", - "Deviation of the hand or of fingers of the hand", - "abnormal calcareous tooth morphology", - "abnormal erythroid lineage cell morphology", - "abnormal hematopoietic cell morphology", - "external nose", - "abnormal integumentary adnexa morphology", - "changed biological_process rate", - "abnormality of anatomical entity mass", - "Aplasia/Hypoplasia involving the central nervous system", - "decreased multicellular organism mass", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "aplasia or hypoplasia of telencephalon", - "Abnormality of body weight", - "growth", - "negative regulation of biological process", - "Failure to thrive", - "Decreased multicellular organism mass", - "abnormal number of anatomical enitites of type anatomical entity", - "appendage girdle complex", - "subdivision of head", - "abnormal number of anatomical enitites of type strand of hair", - "decreased qualitatively response to stimulus", - "deviation of anatomical entity", - "Ataxia", + "abdominal segment of trunk", + "Aplasia/Hypoplasia of the optic nerve", + "localization", + "number of anatomical enitites of type neutrophil phenotype", + "manus phenotype", + "peptide hormone secretion", + "regulation of hormone levels phenotype", + "amide transport phenotype", + "establishment of localization phenotype", + "Abnormality of the lower urinary tract", + "Abnormal circulating hormone concentration", + "Abnormal forearm morphology", + "posterior segment of eyeball morphology phenotype", + "export from cell", + "cell communication", + "hormone transport", + "Ventricular septal defect", + "small intestine", + "secretion", + "size of eyeball of camera-type eye phenotype", + "Abnormal gastrointestinal tract morphology", + "Aplasia/Hypoplasia affecting the eye", + "blood", + "anatomical cluster", + "absent anatomical entity in the multicellular organism", + "Microphthalmia", + "absent anatomical entity", + "decreased size of the eyeball of camera-type eye", + "absent skeletal element", + "Hearing abnormality", + "Abnormal metencephalon morphology", + "decreased length of metapodium bone", + "closing of the organ part", + "anatomical entity morphology in the brain phenotype", + "formed multicellular anatomical structure", + "formed anatomical structure", + "absent anatomical structure in the brain", + "hindbrain morphology phenotype", + "Abnormal nervous system morphology", + "cerebellum", + "external acoustic meatus", + "cerebellum phenotype", + "brain commissure morphology phenotype", + "cranial nerve II phenotype", + "Aplasia/Hypoplasia affecting the fundus", + "Optic nerve hypoplasia", + "multi cell part structure phenotype", + "cranial nerve II hypoplasia", + "Functional abnormality of the middle ear", + "nervous system physiology phenotype", + "Neurodevelopmental abnormality", + "Neurodevelopmental delay", + "multicellular anatomical structure physiology phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "regulation of cellular process", + "programmed DNA elimination by chromosome breakage", + "negative regulation of gene expression phenotype", + "regulation of cellular process phenotype", + "homeostatic process", + "paired limb/fin", + "Chromosome breakage", + "trunk region element phenotype", + "absent limb endochondral element in the forelimb", + "regulation of cellular biosynthetic process", + "Abnormal cardiac septum morphology", + "metabolic process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular process", + "arm phenotype", + "regulation of cellular metabolic process", + "ectoderm-derived structure phenotype", + "regulation of biosynthetic process", + "Chromosomal breakage induced by crosslinking agents", + "regulation of macromolecule metabolic process", + "trunk region element physiology phenotype", + "bladder organ", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "sac physiology phenotype", + "renal system phenotype", + "decreased length of metacarpal bone of digit 1", + "Abnormal cardiovascular system morphology", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ phenotype", + "viscus physiology phenotype", + "multicellular anatomical structure", + "hematopoietic system", + "ureter phenotype", + "Vesicoureteral reflux", + "compound organ phenotype", + "excretory tube phenotype", + "non-connected functional system", + "lower urinary tract phenotype", + "musculoskeletal system", + "Short neck", + "abdominal segment element", + "manual digit 1 phalanx endochondral element", + "excretory tube", + "Limb undergrowth", + "genitourinary system", ], }, ], diff --git a/frontend/fixtures/association-counts.json b/frontend/fixtures/association-counts.json index 2f1f833ad..3428f6a85 100644 --- a/frontend/fixtures/association-counts.json +++ b/frontend/fixtures/association-counts.json @@ -2,7 +2,7 @@ "items": [ { "label": "Phenotype to Disease", - "count": 4012, + "count": 4115, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { @@ -12,7 +12,7 @@ }, { "label": "Correlated Gene", - "count": 146, + "count": 151, "category": "biolink:CorrelatedGeneToDiseaseAssociation" }, { diff --git a/frontend/fixtures/association-table.json b/frontend/fixtures/association-table.json index 2bef88f1c..ba0714b2e 100644 --- a/frontend/fixtures/association-table.json +++ b/frontend/fixtures/association-table.json @@ -1,10 +1,10 @@ { "limit": 5, "offset": 0, - "total": 4012, + "total": 4115, "items": [ { - "id": "uuid:22c98bea-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c0785538-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0958235", "original_subject": "OMIM:620727", @@ -12,56 +12,56 @@ "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0958235", - "MONDO:0100546", + "MONDO:0100545", + "MONDO:0002081", + "BFO:0000020", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000001", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0958235", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0000355", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001" ], "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "specifically dependent continuant", - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", - "entity", "hereditary skeletal muscle disorder", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "specifically dependent continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Ullrich congenital muscular dystrophy 1B", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", - "myopathy", - "congenital nervous system disorder", - "Ullrich congenital muscular dystrophy", - "hereditary disease", "disease", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "Ullrich congenital muscular dystrophy", + "entity", "continuant", - "disposition", - "muscle tissue disorder" + "human disease", + "skeletal muscle disorder", + "hereditary disease", + "Ullrich congenital muscular dystrophy 1B", + "congenital nervous system disorder" ], "subject_taxon": null, "subject_taxon_label": null, @@ -71,287 +71,350 @@ "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0076703", - "HP:0040064", - "RO:0002577", - "PR:000050567", - "UBERON:0010707", - "UBERON:0004905", - "UBERON:0002428", - "UBERON:0004381", - "UBERON:0005451", - "UBERON:0012140", - "UBERON:0012354", - "UBERON:0002398", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0076944", - "UPHENO:0086700", - "UPHENO:0079876", - "HP:0011843", - "UBERON:5002544", - "UBERON:0005881", - "UBERON:0010758", - "UBERON:0004765", - "UBERON:0012141", - "HP:0001155", - "HP:0011842", - "UPHENO:0076692", - "UPHENO:0084761", - "HP:0011297", - "UBERON:0034921", - "UBERON:0001434", - "UPHENO:0076740", - "BFO:0000001", - "UBERON:0000061", - "UBERON:0000153", - "UBERON:0000026", - "HP:0002817", - "HP:0006256", - "UBERON:0004770", - "UBERON:0004288", - "UBERON:0002101", - "UBERON:0004710", + "UPHENO:0003015", "UPHENO:0076723", "UPHENO:0002905", "HP:0034430", "HP:0000924", + "UPHENO:0076727", + "UPHENO:0002976", + "UBERON:0002102", + "UBERON:0002389", + "UBERON:0001460", + "UBERON:0010740", + "UBERON:0002513", + "UBERON:0002529", + "UBERON:0003657", + "UPHENO:0081581", "HP:0033127", - "HP:0040068", - "UPHENO:0002880", - "UPHENO:0002830", - "UBERON:0000468", + "UBERON:0034925", "UBERON:0011216", - "HP:0000001", - "PATO:0000001", - "UBERON:0010708", + "UBERON:0034921", + "UPHENO:0001001", + "BFO:0000020", + "UPHENO:0002530", + "UPHENO:0081440", + "UPHENO:0086635", + "UBERON:0004708", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0000468", + "UBERON:0010363", + "UBERON:0011249", + "UBERON:0010538", "UBERON:0010712", "UBERON:0002091", - "UBERON:0000982", - "UPHENO:0086633", - "UPHENO:0077421", - "UPHENO:0001002", - "HP:0006094", - "UPHENO:0002964", - "UBERON:0001062", - "UBERON:0002529", - "UBERON:0003657", - "HP:0001167", + "UPHENO:0002861", "HP:0001382", "HP:0000118", - "UPHENO:0002536", - "BFO:0000001", - "UBERON:0015212", - "UBERON:0001474", - "UBERON:0010363", - "UBERON:0006058", - "UBERON:0010538", - "UBERON:0011249", - "UPHENO:0001001", - "UPHENO:0015280", - "BFO:0000002", "UPHENO:0077419", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0002204", - "UBERON:5002389", - "UBERON:0002544", - "HP:0011729", - "BFO:0000020", + "UPHENO:0002643", + "BFO:0000002", + "UBERON:0000061", + "UBERON:0010708", + "UBERON:0005881", + "UBERON:0002470", + "UBERON:0008785", + "UBERON:0012139", + "UBERON:0003839", + "UPHENO:0002526", + "UPHENO:0076703", + "HP:0001167", "UPHENO:0002708", + "UPHENO:0002945", + "UPHENO:0002782", + "UPHENO:0002536", + "UPHENO:0076943", "HP:0430046", - "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0084763", - "UPHENO:0076727", - "UPHENO:0020584", + "UPHENO:0002600", + "UPHENO:0005092", + "UPHENO:0002554", + "UBERON:0001062", + "UBERON:0010000", + "UBERON:0000467", "UBERON:0011582", "UBERON:0015061", "UBERON:0004375", - "UBERON:0002102", - "UPHENO:0084766", + "UPHENO:0003095", + "UPHENO:0002964", + "UPHENO:0002632", + "UBERON:0005451", + "UBERON:0012140", + "UBERON:0012354", + "UBERON:0002398", + "UBERON:0012141", + "UPHENO:0002963", + "UPHENO:0003066", + "UBERON:0000982", "HP:0005922", "UPHENO:0087006", - "UPHENO:0002332", + "UPHENO:0002525", + "UBERON:0004120", + "UBERON:0004288", + "UBERON:0004770", + "UBERON:0002101", + "UBERON:0004710", + "UBERON:0000153", + "UBERON:0000026", + "UBERON:5002544", + "HP:0011729", + "UPHENO:0002559", + "UPHENO:0002983", + "UPHENO:0002870", "UPHENO:0002896", - "UPHENO:0081440", - "UPHENO:0086635", + "UPHENO:0002568", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0004476", + "UPHENO:0002733", + "UPHENO:0076692", + "UPHENO:0084761", + "UPHENO:0002385", + "UPHENO:0002880", + "UPHENO:0002830", + "UPHENO:0076944", + "UBERON:0000465", + "UBERON:0010758", + "UBERON:0004765", + "UPHENO:0076740", + "UPHENO:0002593", + "HP:0002817", + "UPHENO:0003065", + "BFO:0000001", + "BFO:0000004", + "UBERON:0010707", + "UBERON:0004381", + "UBERON:0002428", + "UBERON:0001434", + "UPHENO:0001002", + "UPHENO:0003049", + "PATO:0000001", + "HP:0040068", + "UBERON:0015212", + "UBERON:0002204", + "UBERON:0002544", + "UBERON:5002389", + "UBERON:0006058", + "UBERON:0001474", + "UPHENO:0086633", + "UPHENO:0077421", + "UPHENO:0084763", + "UPHENO:0003005", + "UPHENO:0084448", + "HP:0011844", + "UPHENO:0086700", + "UPHENO:0079876", + "HP:0011843", + "HP:0001155", + "HP:0011842", + "HP:0006094", "BFO:0000040", - "UBERON:0000467", - "UBERON:0004120", - "UBERON:0002389", - "UBERON:0010740", - "UBERON:0002513", - "UBERON:0001460", - "UPHENO:0082875", - "HP:0002813", - "UBERON:0034925", - "UBERON:0004708", "UBERON:0000075", + "UBERON:0000383", + "UBERON:0001015", "UBERON:0010912", - "UPHENO:0075696", - "UPHENO:0076943", - "UPHENO:0084448", - "HP:0011844", - "UBERON:0000475", - "UBERON:0000062", - "UBERON:0002470", - "UBERON:0008785", - "UBERON:0012139", - "UBERON:0003839" + "UBERON:0004905", + "UPHENO:0002269", + "HP:0006256", + "UPHENO:0002267", + "UPHENO:0002926", + "HP:0040064", + "UPHENO:0002944", + "UPHENO:0082875", + "HP:0002813", + "UPHENO:0001003", + "HP:0011297", + "UPHENO:0002586", + "BFO:0000001", + "PR:000050567", + "RO:0002577" ], "object_label": "Finger joint hypermobility", "object_closure_label": [ - "abnormal appendicular skeleton morphology", - "specifically dependent continuant", - "abnormal manus", - "anatomical structure", - "digit plus metapodial segment", - "autopodial extension", - "subdivision of organism along appendicular axis", - "skeletal element", - "autopod region", - "upper limb segment", - "segment of autopod", - "forelimb joint", - "abnormal skeletal system morphology", - "quality", - "anterior region of body", - "appendage", - "manual digitopodium region", - "Phenotypic abnormality", - "Finger joint hypermobility", - "abnormal skeletal system", - "material entity", - "multi organ part structure", - "skeletal system", - "abnormal forelimb morphology", + "forelimb morphology phenotype", "increased skeletal joint mobility", - "abnormal manus morphology", - "abnormal digit", - "Abnormal joint physiology", - "Abnormality of the skeletal system", - "Abnormality of the musculoskeletal system", - "Abnormality of limb bone", - "abnormal arm", - "abnormal limb", - "multicellular organism", - "organ system subdivision", - "All", - "abnormal limb bone morphology", - "abnormal anatomical entity morphology", - "organism subdivision", - "organ", - "articulation", - "limb bone", - "skeleton of limb", - "abnormal anatomical entity", - "Abnormality of limb bone morphology", - "independent continuant", + "anatomical entity morphology in the appendage girdle complex phenotype", + "manus phenotype", + "paired limb/fin phenotype", + "autopod region phenotype", + "anatomical entity morphology in the manus phenotype", + "Abnormal appendicular skeleton morphology", "multicellular anatomical structure", + "anatomical system", + "paired limb/fin 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"acropodium region", + "manus", + "manual digitopodium region", + "specifically dependent continuant", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormality of the hand", + "Abnormal skeletal morphology", + "Finger joint hypermobility", + "anatomical entity", + "mesoderm-derived structure", + "skeleton", + "articular system", + "limb", + "pectoral appendage", + "autopod region", + "upper limb segment", + "segment of autopod", + "forelimb joint", "Abnormality of joint mobility", - "abnormal skeletal joint mobility", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the upper limb", + "taxon specific phenotype", + "Abnormal digit morphology", + "upper limb segment phenotype", + "digit morphology phenotype", + "anatomical entity morphology in the pectoral complex phenotype", "Abnormal musculoskeletal physiology", - "anatomical 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independent continuant", - "continuant", - "increased anatomical entity mobility", - "entity", - "lateral structure", + "paired limb/fin segment", "limb skeleton subdivision", "appendicular skeleton", - "skeletal joint", + "All", + "continuant", + "Abnormality of hand joint mobility", + "material anatomical entity physiology phenotype", + "organism subdivision phenotype", + "Abnormality of limbs", + "material entity", + "musculoskeletal system", + "anterior region of body", + "appendage", + "digit plus metapodial segment", + "phenotype", "Abnormal hand morphology", - "abnormal autopod region morphology", - "phenotype by ontology source", - "Small joint hypermobilty", - "appendage girdle complex", + "autopod region morphology phenotype", + "bone element phenotype", + "limb bone phenotype", + "multicellular anatomical structure phenotype", + "independent continuant", "subdivision of skeletal system", + "musculature of body", + "musculature", "subdivision of skeleton", - "abnormal 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null, "stage_qualifier_category": null, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": null, + "stage_qualifier_closure_label": null, + "disease_context_qualifier": null, + "disease_context_qualifier_label": null, + "disease_context_qualifier_namespace": null, + "disease_context_qualifier_category": null, + "disease_context_qualifier_closure": null, + "disease_context_qualifier_closure_label": null, "direction": "outgoing" }, { - "id": "uuid:22c98be7-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:c0785535-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0958235", "original_subject": "OMIM:620727", @@ -977,56 +1074,56 @@ "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0958235", - "MONDO:0100546", + "MONDO:0100545", + "MONDO:0002081", + "BFO:0000020", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000001", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0958235", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", "MONDO:0700223", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0000355", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0020121", + "MONDO:0700096", "MONDO:0000001" ], "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "specifically dependent continuant", - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", - "entity", "hereditary skeletal muscle disorder", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "specifically dependent continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Ullrich congenital muscular dystrophy 1B", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", - "myopathy", - "congenital nervous system disorder", - "Ullrich congenital muscular dystrophy", - "hereditary disease", "disease", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "Ullrich congenital muscular dystrophy", + "entity", "continuant", - "disposition", - "muscle tissue disorder" + "human disease", + "skeletal muscle disorder", + "hereditary disease", + "Ullrich congenital muscular dystrophy 1B", + "congenital nervous system disorder" ], "subject_taxon": null, "subject_taxon_label": null, @@ -1036,95 +1133,104 @@ "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "BFO:0000002", - "UPHENO:0001003", - "HP:0012638", - 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"aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": null, + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": [ + "infores:monarchinitiative", + "infores:hpo-annotations" + ], + "negated": false, "pathway": null, "evidence_count": 4, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000269"], + "has_evidence": ["ECO:0006017"], "has_evidence_links": [ { - "id": "ECO:0000269", - "url": "http://purl.obolibrary.org/obo/ECO_0000269" + "id": "ECO:0006017", + "url": "http://purl.obolibrary.org/obo/ECO_0006017" } ], "has_count": 3, "has_total": 3, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0001270", + "grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0001270", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", @@ -1149,101 +1255,111 @@ "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, - "qualifiers": [], + "qualifiers": null, "qualifiers_label": null, "qualifiers_namespace": null, "qualifiers_category": null, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": null, + "qualifiers_closure_label": null, + "qualifier": null, "qualifier_label": null, "qualifier_namespace": null, "qualifier_category": null, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": null, + "qualifier_closure_label": null, "frequency_qualifier_label": null, "frequency_qualifier_namespace": null, "frequency_qualifier_category": null, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": null, + "frequency_qualifier_closure_label": null, "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": null, + "onset_qualifier_closure_label": null, "sex_qualifier_label": null, "sex_qualifier_namespace": null, "sex_qualifier_category": null, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": null, + "sex_qualifier_closure_label": null, "stage_qualifier_label": null, "stage_qualifier_namespace": null, "stage_qualifier_category": null, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": null, + "stage_qualifier_closure_label": null, + "disease_context_qualifier": null, + "disease_context_qualifier_label": null, + "disease_context_qualifier_namespace": null, + "disease_context_qualifier_category": null, + "disease_context_qualifier_closure": null, + "disease_context_qualifier_closure_label": null, "direction": "outgoing" }, { - "id": "uuid:2360805d-400a-11ef-89e7-6fe0be41fbbf", + "id": "uuid:bab4851b-8b41-11ef-b621-6045bdbae67e", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0958233", - "original_subject": "OMIM:620725", + "subject": "MONDO:0024530", + "original_subject": "OMIM:158810", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0100225", + "MONDO:0019056", + "MONDO:0005336", + "MONDO:0002320", + "MONDO:0016106", "BFO:0000002", - "MONDO:0100546", + "MONDO:0024530", + "MONDO:0016139", + "BFO:0000001", + "BFO:0000020", "OGMS:0000031", + "MONDO:0020120", + "MONDO:0003847", + "MONDO:0008029", + "MONDO:0100546", "MONDO:0019952", "BFO:0000017", - "MONDO:0100545", - "MONDO:0002081", + "BFO:0000016", "MONDO:0019950", - "MONDO:0008029", "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "BFO:0000001", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0016106", - "MONDO:0005336", "MONDO:0003939", - "BFO:0000020", - "MONDO:0020120", - "MONDO:0019056", - "MONDO:0000001", - "MONDO:0958233" + "MONDO:0020121", + "MONDO:0700096", + "MONDO:0000001" ], - "subject_label": "Bethlem myopathy 1B", + "subject_label": "Bethlem myopathy 1A", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "progressive muscular dystrophy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "nervous system disorder", + "myopathy", + "collagen 6-related myopathy", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "Bethlem myopathy", - "specifically dependent continuant", - "skeletal muscle disorder", - "neuromuscular disease", - "disease", - "muscular dystrophy", "congenital myopathy", "realizable entity", + "disease", "continuant", - "myopathy", - "congenital nervous system disorder", + "hereditary neuromuscular disease", + "disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "specifically dependent continuant", "entity", - "progressive muscular dystrophy", + "human disease", + "Bethlem myopathy", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "Bethlem myopathy 1B" + "Bethlem myopathy 1A", + "qualitative or quantitative protein defects in neuromuscular diseases", + "congenital nervous system disorder" ], "subject_taxon": null, "subject_taxon_label": null, @@ -1253,119 +1369,140 @@ "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0002320", - "UPHENO:0002816", - "BFO:0000002", - "UPHENO:0075696", - "BFO:0000001", - "UBERON:0000061", - "HP:0011804", "HP:0001324", - "HP:0033127", - "UPHENO:0001003", - "UBERON:0000468", - "UBERON:0011216", - "HP:0000001", - "HP:0003011", - "PATO:0000001", - "UPHENO:0001005", - "UPHENO:0001002", - "UPHENO:0080556", - "BFO:0000001", + "UPHENO:0002976", "BFO:0000040", "UBERON:0001062", - "HP:0000118", - "UPHENO:0002536", + "HP:0033127", + "UBERON:0011216", "UPHENO:0001001", - "BFO:0000002", + "BFO:0000020", + "UPHENO:0002530", + "UBERON:0000062", + "UBERON:0000468", + "HP:0000118", + "UBERON:0000061", + "UPHENO:0002526", "UPHENO:0080555", - "BFO:0000004", - "UBERON:0010000", + "UPHENO:0002536", + "HP:0011804", + "UBERON:0000467", "UBERON:0001630", - "BFO:0000020", - "UBERON:0000465", + "UPHENO:0080556", + "BFO:0000001", + "UBERON:0010000", + "UPHENO:0003047", "HP:0003701", - "UPHENO:0002332", - "UBERON:0000467", + "HP:0003011", + "UPHENO:0002308", + "UPHENO:0002525", "UBERON:0005090", - "UPHENO:0082875", + "UPHENO:0002359", + "UPHENO:0003022", + "UPHENO:0002568", + "BFO:0000002", + "HP:0000001", + "BFO:0000002", + "UPHENO:0002816", + "UPHENO:0002385", + "UBERON:0000465", + "BFO:0000004", + "UPHENO:0002320", + "UPHENO:0001002", + "UPHENO:0002386", + "PATO:0000001", "UBERON:0000383", "UBERON:0001015", - "UBERON:0000062" + "UPHENO:0002267", + "UPHENO:0082875", + "UPHENO:0001003", + "BFO:0000001" ], "object_label": "Proximal muscle weakness", "object_closure_label": [ - "abnormal anatomical entity", + "decreased anatomical entity strength", + "organ physiology phenotype", + "anatomical system", + "muscle organ", + "material anatomical entity phenotype", + "entity", + "material entity", + "anatomical entity", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "organ system subdivision", + "Muscle weakness", "specifically dependent continuant", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormality of the musculature", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "taxon specific phenotype", "anatomical structure", - "abnormal musculature", + "anatomical entity physiology phenotype", "quality", + "organ", + "multicellular organism", + "musculature phenotype", + "anatomical structure phenotype", + "material anatomical entity", "Phenotypic abnormality", - "decreased muscle organ strength", + "Abnormal muscle physiology", + "multicellular anatomical structure", "entity", - "abnormal phenotype by ontology source", - "Muscle weakness", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "multicellular organism", - "organ system subdivision", + "continuant", "All", "continuant", - "organ", - "independent continuant", - "multicellular anatomical structure", - "Abnormality of the musculature", - "muscle organ", - "abnormality of muscle organ physiology", - "abnormality of anatomical entity physiology", - "material anatomical entity", - "Abnormal muscle physiology", + "material anatomical entity physiology phenotype", + "phenotype", + "muscle structure phenotype", "Proximal muscle weakness", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "multicellular anatomical structure phenotype", + "independent continuant", "musculature of body", "musculature", - "decreased anatomical entity strength", - "abnormal anatomical entity", - "phenotype", - "Phenotypic abnormality", - "anatomical system", - "muscle structure", - "abnormality of anatomical entity physiology", - "continuant", - "entity", - "material entity", - "anatomical entity" + "decreased muscle organ strength", + "organ phenotype", + "anatomical entity phenotype" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": null, + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": [ + "infores:monarchinitiative", + "infores:hpo-annotations" + ], + "negated": false, "pathway": null, "evidence_count": 3, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000269"], + "has_evidence": ["ECO:0006017"], "has_evidence_links": [ { - "id": "ECO:0000269", - "url": "http://purl.obolibrary.org/obo/ECO_0000269" + "id": "ECO:0006017", + "url": "http://purl.obolibrary.org/obo/ECO_0006017" } ], - "has_count": 11, - "has_total": 11, + "has_count": 4, + "has_total": 4, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0958233||biolink:has_phenotype|HP:0003701", + "grouping_key": "MONDO:0024530|False|biolink:has_phenotype|HP:0003701", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:11865138", "PMID:17886299"], + "publications": ["PMID:30808312", "PMID:17886299"], "publications_links": [ { - "id": "PMID:11865138", - "url": "http://identifiers.org/pubmed/11865138" + "id": "PMID:30808312", + "url": "http://identifiers.org/pubmed/30808312" }, { "id": "PMID:17886299", @@ -1376,38 +1513,44 @@ "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, - "qualifiers": [], + "qualifiers": null, "qualifiers_label": null, "qualifiers_namespace": null, "qualifiers_category": null, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": null, + "qualifiers_closure_label": null, + "qualifier": null, "qualifier_label": null, "qualifier_namespace": null, "qualifier_category": null, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": null, + "qualifier_closure_label": null, "frequency_qualifier_label": null, "frequency_qualifier_namespace": null, "frequency_qualifier_category": null, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": null, + "frequency_qualifier_closure_label": null, "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": null, + "onset_qualifier_closure_label": null, "sex_qualifier_label": null, "sex_qualifier_namespace": null, "sex_qualifier_category": null, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": null, + "sex_qualifier_closure_label": null, "stage_qualifier_label": null, "stage_qualifier_namespace": null, "stage_qualifier_category": null, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], + "stage_qualifier_closure": null, + "stage_qualifier_closure_label": null, + "disease_context_qualifier": null, + "disease_context_qualifier_label": null, + "disease_context_qualifier_namespace": null, + "disease_context_qualifier_category": null, + "disease_context_qualifier_closure": null, + "disease_context_qualifier_closure_label": null, "direction": "outgoing" } ] diff --git a/frontend/fixtures/associations-compact.json b/frontend/fixtures/associations-compact.json index a64574dda..0ac9b7f0c 100644 --- a/frontend/fixtures/associations-compact.json +++ b/frontend/fixtures/associations-compact.json @@ -1,187 +1,187 @@ { "limit": 20, "offset": 0, - "total": 5013, + "total": 5116, "items": [ { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "predicate": "biolink:has_phenotype", - "object": "HP:0001290", - "object_label": "Generalized hypotonia", - "negated": null + "object": "HP:0000762", + "object_label": "Decreased nerve conduction velocity", + "negated": false }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009667", - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject": "MONDO:0013711", + "subject_label": 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disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease" + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0007759", + "object": "HP:0001337", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "HP:0000234", - "PR:000050567", - "UBERON:0002104", - "UPHENO:0001003", - "HP:0011492", - "UPHENO:0087232", - "UBERON:0001444", - 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"UPHENO:0079833", + "BFO:0000015", + "HP:0001337", + "HP:0011442", + "UPHENO:0051196", "HP:0000118", + "GO:0007610", + "GO:0003008", + "NBO:0000403", + "NBO:0000001", + "GO:0006941", + "UPHENO:0002433", + "UPHENO:0049708", "UPHENO:0002536", + "UBERON:0001062", + "UBERON:0000467", + "BFO:0000002", + "UPHENO:0049703", "BFO:0000001", - "UBERON:0015212", - "UBERON:0010314", - "UBERON:0004121", - "UBERON:0000970", + "GO:0008150", + "UBERON:0010000", "UPHENO:0001001", + "BFO:0000020", + "UPHENO:0002963", + "HP:0011446", + "UPHENO:0049699", + "UPHENO:0050613", + "UPHENO:0079826", + "UPHENO:0004523", + "HP:0004305", + "BFO:0000003", "BFO:0000002", - "UPHENO:0015280", - "UPHENO:0021474", - "UPHENO:0002844", - "HP:0000481", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0004456", - "UBERON:0000033", - "UBERON:0004088", - "UBERON:0001456", + "GO:0050879", + "HP:0000001", + "UPHENO:0002385", + "HP:0012638", + "UPHENO:0050875", + "UPHENO:0002525", "UBERON:0000465", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0020584", - "BFO:0000001", - "UBERON:0001032", - "HP:0007957", - "UPHENO:0002764", - "UPHENO:0087577", + "BFO:0000004", + "GO:0050882", + "NBO:0000338", + "GO:0050905", + "GO:0006936", + "UPHENO:0001002", + "PATO:0000001", + "GO:0032501", + "GO:0050881", + "NBO:0000313", + "GO:0050877", + "GO:0003012", + "UBERON:0001016", + "UPHENO:0051293", + "GO:0003009", + "HP:0100022", + "HP:0000708", "BFO:0000040", - "UBERON:0000467", - "UBERON:0000047", - "UPHENO:0088026", - "HP:0007759", - "UBERON:0000061", - "UBERON:0034923", - "UPHENO:0075696", - "UPHENO:0021038", - "UBERON:0000475", - "UBERON:0000062" + "UPHENO:0002269", + "HP:0000707", + "UPHENO:0002267", + "UPHENO:0050106", + "UPHENO:0082875", + "UPHENO:0001003" ], - "object_label": "Opacification of the corneal stroma", + "object_label": "Tremor", "object_closure_label": [ - "Abnormal anterior eye segment morphology", + "nervous system physiology phenotype", + "multicellular organismal movement phenotype", + "skeletal muscle contraction phenotype", + "biological_process phenotype", "entity", - "subdivision of head", - "body proper", - "craniocervical region", - "sense organ", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "Phenotypic abnormality", - "Abnormality of the face", - "material entity", - "organ part", - "anterior segment of eyeball", - "anatomical wall", - "organ component layer", - "stroma", - "organ subunit", - "abnormal craniocervical region morphology", - "quality", - "tunica fibrosa of eyeball", - "cornea", + "anatomical system", + "anatomical system physiology phenotype", + "material anatomical entity phenotype", + "musculoskeletal movement", + "behavior process", + "nervous system process", + "muscle system process", + "phenotypic effect", + "Atypical behavior", + "anatomical structure physiology phenotype", + "Abnormal nervous system physiology", + "neuromuscular process phenotype", + "anatomical structure phenotype", "multicellular organism", - "Abnormality of the orbital region", - "All", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "continuant", - "organism subdivision", - "organ", - "visual system", - "abnormal anatomical entity", - "Opacification of the corneal stroma", - "independent continuant", - "multicellular anatomical structure", - "abnormal eyeball of camera-type eye", - "abnormal anterior segment of eyeball morphology", - "abnormal ocular surface region morphology", + "behavior phenotype", + "process", "anatomical structure", - "disconnected anatomical group", - "entire sense organ system", - "head", - "orbital region", - "face", - "abnormal cornea morphology", - "abnormal cornea morphology", - "material anatomical entity", - "substantia propria of cornea", - "eye", - "Abnormality of head or neck", - "abnormal head morphology", - "abnormal face", - "Abnormality of the eye", - "abnormal camera-type eye morphology", - "abnormal anatomical entity morphology", - "abnormal camera-type eye morphology", - "abnormal head", - "non-connected functional system", - "entity", - "lateral structure", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "Corneal opacity", - "abnormal orbital region", - "Abnormal eye morphology", - "abnormal face morphology", - "abnormal craniocervical region", - "phenotype by ontology source", - "Abnormal corneal stroma morphology", - "Abnormal cornea morphology", - "abnormal anatomical entity", - "protein-containing material entity", - "camera-type eye", - "neural crest-derived structure", - "eyeball of camera-type eye", - "ocular surface region", - "simple eye", + "muscle contraction phenotype", + "muscle system process phenotype", + "voluntary skeletal muscle contraction", + "musculoskeletal movement phenotype", + "behavior process phenotype", + "nervous system phenotype", + "anatomical entity", + "taxon specific phenotype", + "behavior", + "system process", + "multicellular organismal process phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "biological_process", "phenotype", - "Phenotypic abnormality", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical system", - "sensory system", "continuant", - "Abnormality of the head", - "abnormal substantia propria of cornea morphology", - "abnormal phenotype by ontology source", - "abnormal anterior segment of eyeball morphology", - "anatomical entity" - ], - "object_taxon": null, - "object_taxon_label": null, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": null, - "pathway": null, - "evidence_count": 1, + "Abnormality of mental function", + "nervous system process phenotype", + "material anatomical entity", + "Tremor", + "Abnormal central motor function", + "striated muscle contraction phenotype", + "quality", + "voluntary movement behavior", + "body part movement", + "striated muscle contraction", + "Abnormality of movement", + "voluntary skeletal muscle contraction phenotype", + "Phenotypic abnormality", + "voluntary musculoskeletal movement phenotype", + "multicellular organismal process", + "multicellular anatomical structure", + "skeletal muscle contraction", + "specifically dependent continuant", + "entity", + "occurrent", + "continuant", + "All", + "Abnormality of the nervous system", + "material anatomical entity physiology phenotype", + "material entity", + "nervous system", + "Involuntary movements", + "independent continuant", + "system process phenotype", + "voluntary movement behavior phenotype", + "anatomical entity phenotype", + "multicellular organismal movement", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "neuromuscular process", + "muscle contraction" + ], + "object_taxon": null, + "object_taxon_label": null, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": [ + "infores:monarchinitiative", + "infores:hpo-annotations" + ], + "negated": false, + "pathway": null, + "evidence_count": 1, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", "has_evidence": ["ECO:0000304"], @@ -3867,328 +4107,259 @@ "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0007759", + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001337", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": [], + "publications": null, "publications_links": [], - "frequency_qualifier": null, + "frequency_qualifier": "HP:0040283", "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, - "qualifiers": [], + "qualifiers": null, "qualifiers_label": null, 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"original_subject": "Orphanet:397744", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ "MONDO:0005071", - "BFO:0000016", - "MONDO:0015286", - "MONDO:0018276", - "MONDO:0045010", - "BFO:0000002", - "MONDO:0017741", - "MONDO:0024322", - "MONDO:0100546", - "OGMS:0000031", - "BFO:0000017", - "MONDO:0005066", + "MONDO:0020128", + "MONDO:0016108", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0700223", - "MONDO:0700096", - "MONDO:0002320", - "MONDO:0003847", - "MONDO:0020121", - "MONDO:0700068", + "MONDO:0019056", + "MONDO:0003620", "MONDO:0005336", - "MONDO:0003939", - "BFO:0000001", - "MONDO:0019052", + "MONDO:0002602", + "MONDO:0015362", + "MONDO:0005244", + "MONDO:0013711", + "MONDO:0018894", + "MONDO:0003182", + "MONDO:0001516", "BFO:0000020", + "OGMS:0000031", + "MONDO:0024257", + "MONDO:0000429", + "MONDO:0024237", "MONDO:0020120", - "MONDO:0019056", + "MONDO:0003847", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000017", + "BFO:0000001", + "BFO:0000016", + "MONDO:0700223", + "MONDO:0020127", + "MONDO:0003939", + "MONDO:0018949", + "MONDO:0020121", + "MONDO:0000426", + "MONDO:0005559", + "MONDO:0700096", "MONDO:0000001", - "MONDO:0009667", - "MONDO:0000171", - "MONDO:0018939" + "MONDO:0002545" ], - "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "subject_closure_label": [ - "nervous system disorder", - "hereditary neuromuscular disease", - "human disease", "hereditary skeletal muscle disorder", + "central nervous system disorder", + "hereditary peripheral neuropathy", + "neuromuscular disease", + "muscle tissue disorder", + "disposition", + "autosomal dominant disease", + "neurodegenerative disease", + "nervous system disorder", + "myopathy", + "entity", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital muscular dystrophy", - "specifically dependent continuant", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", - "disorder of protein O-glycosylation", - "disorder of glycosylation", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital disorder of glycosylation", - "muscular dystrophy-dystroglycanopathy, type A", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "realizable entity", + "distal myopathy", "disease", + "hereditary neuromuscular disease", + "disease", + "hereditary motor neuron disease", + "peripheral nervous system disorder", "muscular dystrophy", - "myopathy caused by variation in POMGNT1", - "realizable entity", - "metabolic disease", + "motor neuron disorder", + "anterior horn disorder", + "spinal muscular atrophy", + "specifically dependent continuant", "continuant", - "myopathy", - "congenital nervous system disorder", - "entity", - "inborn errors of metabolism", - "muscular dystrophy-dystroglycanopathy", - "glycoprotein metabolism disease", + "human disease", + "inherited neurodegenerative disorder", + "skeletal muscle disorder", "hereditary disease", - "disease", - "disposition", - "muscle tissue disorder", - "muscle-eye-brain disease" + "spinal cord disorder", + "neuronopathy, distal hereditary motor, autosomal dominant", + "peripheral neuropathy", + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", + "distal hereditary motor neuropathy" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0000486", + "object": "HP:0003701", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "HP:0000234", - "UPHENO:0049587", - "UBERON:0000466", - "NBO:0000338", - "UBERON:0002104", - "UPHENO:0001003", - "HP:0012638", - "UBERON:0001444", - "UBERON:0013702", - "UBERON:0007811", - "UBERON:0000020", - "BFO:0000003", - "NBO:0000313", - "UPHENO:0049586", - 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"UPHENO:0002945", + "UPHENO:0080555", "UPHENO:0002536", - "UBERON:0015212", - "UBERON:0010314", - "UBERON:0000970", - "BFO:0000002", + "HP:0011804", + "UBERON:0000467", + "UBERON:0001630", "BFO:0000002", - "HP:0100022", - "UPHENO:0002844", - "HP:0011389", - "HP:0000496", - "UPHENO:0079833", - "BFO:0000015", - "BFO:0000004", - "UBERON:0004121", + "UPHENO:0080556", "UBERON:0010000", - "UBERON:0004456", - "NBO:0000388", - "NBO:0000444", - "UBERON:0000033", - "UBERON:0004088", - "UBERON:0001456", - "UPHENO:0049622", + "UPHENO:0001001", "BFO:0000020", - "UPHENO:0002433", + "UBERON:0010890", + "UPHENO:0003047", + "HP:0003011", + "UPHENO:0002308", + "UPHENO:0002525", + "UBERON:0005090", + "UBERON:0018254", + "UBERON:0002101", + "UBERON:0000026", + "UPHENO:0002359", + "UPHENO:0003022", + "BFO:0000002", + "HP:0000001", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0002385", + "UPHENO:0002830", + "UPHENO:0003045", + "UPHENO:0002897", + "UPHENO:0001003", "BFO:0000001", - "UBERON:0000465", - "UPHENO:0001005", - "UPHENO:0002219", - "HP:0001751", - "HP:0000359", - "UPHENO:0079837", - "UBERON:0001032", - "UPHENO:0002903", - "UPHENO:0002764", - "HP:0031826", - "UPHENO:0002332", - "UPHENO:0050606", - "GO:0008150", + "BFO:0000004", + "UBERON:0010707", + "UBERON:0014892", + "UPHENO:0002320", + "UPHENO:0001002", + "UBERON:0015212", + "HP:0009127", + "UPHENO:0002386", + "UPHENO:0002568", + "UPHENO:0002647", + "HP:0011805", + "PATO:0000001", "BFO:0000040", - "UBERON:0000467", - "NBO:0000389", - "UBERON:0000047", - "UPHENO:0082875", - "UPHENO:0076730", - "HP:0000708", - "UBERON:0034923", - "UPHENO:0075696", - "UPHENO:0080581", - "GO:0050879", - "GO:0007610", - "GO:0003008", "UBERON:0000475", - "UBERON:0000062" + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0076710", + "UPHENO:0002267", + "UPHENO:0002926", + "HP:0040064", + "HP:0007340", + "UPHENO:0082875", + "UBERON:0000465", + "PR:000050567", + "RO:0002577" ], - "object_label": "Nystagmus", + "object_label": "Lower limb muscle weakness", "object_closure_label": [ - "abnormal voluntary movement behavior", - "abnormal response to stimulus", - "specifically dependent continuant", - "abnormality of nervous system physiology", - "abnormal behavior process", - "abnormal nervous system", + "Abnormality of the musculature of the limbs", + "paired limb/fin phenotype", + "decreased anatomical entity strength", + "organ physiology phenotype", + "entity", + "anatomical system", + "muscle organ", + "material anatomical entity phenotype", + "multicellular anatomical structure phenotype", + "musculature of limb phenotype", + "anatomical entity", + "lateral structure", + "musculature of limb", + "muscle organ physiology phenotype", + "phenotypic effect", + "anatomical structure physiology phenotype", + "limb phenotype", + "paired limb/fin", + "organ system subdivision", + "pelvic complex muscle", + "Muscle weakness", + "Limb muscle weakness", + "entity", + "skeletal muscle organ, vertebrate", + "decreased pelvic complex muscle strength", + "multicellular organism morphology phenotype", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormal skeletal muscle morphology", + "Abnormality of the musculature", + "multicellular anatomical structure physiology phenotype", + "muscle structure", + "skeletal musculature", + "limb", + "appendage musculature phenotype", + "skeletal muscle organ, vertebrate phenotype", "anatomical structure", - "subdivision of head", - "body proper", - "craniocervical region", - "sense organ", + "anatomical entity physiology phenotype", + "anatomical entity morphology phenotype", "quality", - "anterior region of body", - "subdivision of organism along main body axis", - "main body axis", - "physiologic nystagmus", - "phenotype", - "Phenotypic abnormality", - "Abnormality of the face", - "Abnormality of the nervous system", - "biological_process", - "material entity", - "behavior process", - "musculoskeletal movement", - "nervous system process", - "multi organ part structure", - "internal ear", - "nervous system", - "abnormal craniocervical region morphology", - "Abnormality of the ear", - "Abnormal vestibulo-ocular reflex", - "multicellular organism", - "Abnormality of the orbital region", - "All", - "Abnormality of the inner ear", - "abnormal vestibulo-ocular reflex", - "occurrent", - "organism subdivision", + "Lower limb muscle weakness", "organ", - "vestibulo-auditory system", - "visual system", - "abnormal anatomical entity", - "abnormal ear morphology", - "Atypical behavior", - "process", - "independent continuant", - "ectoderm-derived structure", - "multicellular anatomical structure", - "abnormal behavior", - "abnormal musculoskeletal movement", - "abnormal physiologic nystagmus", - "abnormal eyeball of camera-type eye", - "abnormal eye movement", - "Abnormality of mental function", - "Abnormal nervous system physiology", - "disconnected anatomical group", - "entire sense organ system", - "involuntary movement behavior", - "eye movement", - "head", - "orbital region", - "face", - "abnormal internal ear", - "abnormal vestibulo-ocular reflex", - "abnormality of anatomical entity physiology", - "abnormal voluntary musculoskeletal movement", - "abnormal biological_process", - "material anatomical entity", - "eye", - "abnormal behavior process", - "Abnormality of head or neck", - "abnormal head morphology", - "abnormal face", - "Abnormality of the eye", - "abnormal eye movement", - "abnormal anatomical entity morphology", + "multicellular organism", + "phenotype", "continuant", - "Abnormality of movement", - "abnormal head", - "Abnormal eye physiology", - "abnormal physiologic nystagmus", - "abnormality of ear physiology", - "response to stimulus", - "multicellular organismal process", - "non-connected functional system", - "abnormal ear", - "Abnormality of eye movement", - "lateral structure", - "structure with developmental contribution from neural crest", - "abnormal orbital region", - "abnormal craniocervical region", - "Abnormal reflex", - "phenotype by ontology source", - "Nystagmus", - "entity", - "multicellular organismal movement", - "behavior", - "system process", - "kinesthetic behavior", - "voluntary musculoskeletal movement", - "neuromuscular process", - "Abnormal ear physiology", - "Abnormal involuntary eye movements", - "Functional abnormality of the inner ear", - "abnormal anatomical entity", - "camera-type eye", - "ear", - "eyeball of camera-type eye", - "body part movement", - "voluntary movement behavior", - "reflexive behavior", - "simple eye", + "musculature phenotype", + "anatomical structure phenotype", + "appendage phenotype", + "pelvic complex", "Phenotypic abnormality", - "anatomical system", - "sensory system", - "abnormality of anatomical entity physiology", + "Abnormal muscle physiology", + "multicellular anatomical structure", + "specifically dependent continuant", + "taxon specific phenotype", "continuant", - "Abnormality of the head", - "abnormality of internal ear physiology", - "Abnormal ear morphology", - "abnormal voluntary movement behavior", - "entity", - "vestibulo-ocular reflex", - "abnormal phenotype by ontology source", - "abnormality of camera-type eye physiology", - "Abnormal vestibular function", - "anatomical entity", - "cranial nerve related reflex" + "material anatomical entity", + "protein-containing material entity", + "system", + "appendage musculature", + "musculature of pelvic complex", + "All", + "muscle organ morphology phenotype", + "material anatomical entity physiology phenotype", + "organism subdivision phenotype", + "Abnormality of limbs", + "material entity", + "appendage", + "muscle structure phenotype", + "muscle structure physiology phenotype", + "muscle organ phenotype", + "independent continuant", + "organism subdivision", + "musculature of body", + "musculature", + "decreased muscle organ strength", + "organ phenotype", + "anatomical entity phenotype", + "appendage girdle complex" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "negated": null, + "primary_knowledge_source": "infores:orphanet", + "aggregator_knowledge_source": [ + "infores:monarchinitiative", + "infores:hpo-annotations" + ], + "negated": false, "pathway": null, "evidence_count": 1, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": ["ECO:0000501"], + "has_evidence": ["ECO:0000304"], "has_evidence_links": [ { - "id": "ECO:0000501", - "url": "http://purl.obolibrary.org/obo/ECO_0000501" + "id": "ECO:0000304", + "url": "http://purl.obolibrary.org/obo/ECO_0000304" } ], "has_count": null, "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000639", + "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0007340", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": [], + "publications": null, "publications_links": [], - "frequency_qualifier": null, + "frequency_qualifier": "HP:0040282", "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, - "qualifiers": [], + "qualifiers": null, "qualifiers_label": null, "qualifiers_namespace": null, "qualifiers_category": null, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], + "qualifiers_closure": null, + "qualifiers_closure_label": null, + "qualifier": null, "qualifier_label": null, "qualifier_namespace": null, "qualifier_category": null, - "qualifier_closure": [], - "qualifier_closure_label": [], + "qualifier_closure": null, + "qualifier_closure_label": null, "frequency_qualifier_label": null, "frequency_qualifier_namespace": null, "frequency_qualifier_category": null, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], + "frequency_qualifier_closure": null, + "frequency_qualifier_closure_label": null, "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], + "onset_qualifier_closure": null, + "onset_qualifier_closure_label": null, "sex_qualifier_label": null, "sex_qualifier_namespace": null, "sex_qualifier_category": null, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], + "sex_qualifier_closure": null, + "sex_qualifier_closure_label": null, "stage_qualifier_label": null, "stage_qualifier_namespace": null, "stage_qualifier_category": null, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [] + "stage_qualifier_closure": null, + "stage_qualifier_closure_label": null, + "disease_context_qualifier": null, + "disease_context_qualifier_label": null, + "disease_context_qualifier_namespace": null, + "disease_context_qualifier_category": null, + "disease_context_qualifier_closure": null, + "disease_context_qualifier_closure_label": null } ] } diff --git a/frontend/fixtures/autocomplete.json b/frontend/fixtures/autocomplete.json index 629b56593..d325678db 100644 --- a/frontend/fixtures/autocomplete.json +++ b/frontend/fixtures/autocomplete.json @@ -1,7 +1,7 @@ { "limit": 10, "offset": 0, - "total": 320, + "total": 326, "items": [ { "id": "MONDO:0009215", @@ -14,6 +14,7 @@ "DOID:0111095", "GARD:15170", "GTR:AN1051558", + "MEDGEN:483333", "NCIT:C125702", "OMIM:227650", "UMLS:C3469521" @@ -44,14 +45,7 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", "HP:0001875", - "HP:0009777", - "HP:0001249", - "HP:0000252", - "HP:0001627", - "HP:0000957", - "HP:0000815", "HP:0001017", "HP:0000104", "HP:0003974", @@ -59,35 +53,35 @@ "HP:0000028", "HP:0001873", "HP:0009778", + "HP:0009777", + "HP:0001000", + "HP:0001249", + "HP:0000086", + "HP:0000252", + "HP:0000815", "HP:0001896", "HP:0000568", "HP:0001518", "HP:0003221", - "HP:0001000", "HP:0009943", + "HP:0001627", "HP:0000978", "HP:0030680", "HP:0001903", + "HP:0000957", "HP:0001909", "HP:0012210", "HP:0000081", "HP:0000085", + "HP:0003251", "HP:0004322", "HP:0000486", "HP:0000365", "HP:0003214", - "HP:0003213", - "HP:0003251" + "HP:0003213" ], "has_phenotype_label": [ - "Ectopic kidney", "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", "Anemic pallor", "Renal agenesis", "Absent radius", @@ -95,126 +89,168 @@ "Cryptorchidism", "Thrombocytopenia", "Short thumb", + "Absent thumb", + "Abnormality of skin pigmentation", + "Intellectual disability", + "Ectopic kidney", + "Microcephaly", + "Hypergonadotropic hypogonadism", "Reticulocytopenia", "Microphthalmia", "Small for gestational age", "Chromosomal breakage induced by crosslinking agents", - "Abnormality of skin pigmentation", "Complete duplication of thumb phalanx", + "Abnormal heart morphology", "Bruising susceptibility", - "Abnormality of cardiovascular system morphology", + "Abnormal cardiovascular system morphology", "Anemia", + "Cafe-au-lait spot", "Leukemia", "Abnormal renal morphology", "Duplicated collecting system", "Horseshoe kidney", + "Male infertility", "Short stature", "Strabismus", "Hearing impairment", "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Male infertility" + "Deficient excision of UV-induced pyrimidine dimers in DNA" ], "has_phenotype_closure": [ - "GO:0051716", - "GO:0006950", - "HP:0003213", "UPHENO:0051124", - "HP:0003254", + "GO:0046483", + "UPHENO:0050116", + "UPHENO:0049586", "UPHENO:0049964", - "GO:0007049", + "GO:0044238", + "GO:0006950", + "GO:0051716", + "HP:0003213", + "UPHENO:0050121", "GO:0051319", - "UPHENO:0050625", - "HP:0000364", + "GO:0007049", + "HP:0003214", + "UPHENO:0052160", + "UPHENO:0050620", "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", + "GO:0009987", + "HP:0000365", + "UPHENO:0005596", "UBERON:0002105", - "GO:0007610", - "HP:0000708", + "UPHENO:0052159", + "UPHENO:0052970", + "UPHENO:0050625", + "UPHENO:0049699", + "UPHENO:0049703", + "GO:0006807", + "HP:0031704", + "UPHENO:0049989", + "UPHENO:0005512", + "GO:0050954", + "UPHENO:0005518", + "UPHENO:0050106", "HP:0000549", - "HP:0000486", - "UPHENO:0049622", + "HP:0000708", "NBO:0000444", - "HP:0000496", - "UBERON:0010222", - "UPHENO:0080585", - "UBERON:0006800", - "BFO:0000141", + "UPHENO:0002219", + "NBO:0000338", "UPHENO:0079828", + "GO:0007610", + "UPHENO:0002211", + "HP:0000496", "HP:0011018", "UBERON:0000015", - "GO:0050896", - "UPHENO:0049586", - "NBO:0000338", - "UBERON:0000466", - "UPHENO:0081424", - "UPHENO:0080351", + "UBERON:0010222", + "BFO:0000141", + "HP:0000486", "UPHENO:0000543", - "UPHENO:0081423", + "HP:0001510", + "HP:0004322", + "UPHENO:0080351", "UPHENO:0075159", + "UPHENO:0041226", + "UPHENO:0041465", "GO:0007600", "UPHENO:0041075", - "HP:0000085", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", "UPHENO:0041629", - "HP:0000081", "UPHENO:0075787", - "HP:0002664", - "HP:0011793", + "UPHENO:3000003", "HP:0001909", - "HP:0004377", + "HP:0002664", + "UPHENO:0054970", + "UPHENO:0050234", + "UPHENO:0080662", + "UPHENO:0054957", "HP:0002597", - "HP:0001892", - "HP:0011029", - "UPHENO:0002678", - "UBERON:0000477", - "HP:0000978", - "UPHENO:0051097", "HP:0001933", + "GO:0071704", + "MPATH:105", + "UPHENO:0002678", "UBERON:0007798", - "GO:0003013", - "GO:0008015", - "HP:0009943", + "MPATH:603", + "MPATH:119", + "GO:0006139", + "HP:0011354", + "UBERON:0000477", + "MPATH:0", + "HP:0001892", + "MPATH:1000", + "UBERON:0000948", + "HP:0001627", + "HP:0030680", + "HP:0001626", + "UBERON:0001009", + "UPHENO:0050019", + "UBERON:0005181", + "UBERON:0005178", + "UBERON:0015063", + "UBERON:5106048", + "UBERON:5102389", + "UBERON:0010688", + "UBERON:0011818", "HP:0011314", - "HP:0009602", - "UPHENO:0087369", - "HP:0009942", - "UBERON:0003221", - "UBERON:0012357", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0021800", - "UPHENO:0084447", - "GO:0022403", - "UBERON:0004249", - "UBERON:5106048", - "UBERON:5102389", - "UBERON:0010688", + "GO:0090304", + "UBERON:0012150", + "HP:0009942", + "HP:0009943", + "UBERON:0003221", + "UBERON:0012357", "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0080581", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0000541", - "UBERON:0001436", - "GO:0010468", + "UPHENO:0049757", + "UPHENO:0049775", + "UPHENO:0050784", + "HP:0009602", + "UPHENO:0050126", + "HP:0001939", "NBO:0000313", "GO:0010558", "GO:0031327", - "GO:0006325", - "UPHENO:0049700", + "UBERON:0000915", + "UPHENO:0050065", + "UPHENO:0049904", + "GO:0050794", + "GO:0019222", + "GO:0008152", + "GO:0051325", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UPHENO:0050025", + "UPHENO:0049622", + "UPHENO:0050435", + "UBERON:0000466", + "UPHENO:0049868", + "GO:0042592", + "UPHENO:0049743", + "UPHENO:0050063", + "UBERON:0002075", + "GO:0031049", + "GO:0031052", "GO:0010556", "GO:0031326", "GO:0009890", @@ -222,1468 +258,1752 @@ "UBERON:0005897", "GO:0010605", "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0008152", - "HP:0000365", - "GO:0009987", "GO:0050789", - "GO:0044238", - "HP:0031704", - "GO:0006807", - "GO:0071704", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", - "HP:0001939", - "UPHENO:0050845", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", + "HP:0003221", + "GO:0010629", + "UPHENO:0050040", + "UPHENO:0050778", "UPHENO:0082794", + "UPHENO:0010799", "GO:0040007", - "UPHENO:0049874", - "UPHENO:0010763", + "UPHENO:0010850", + "UPHENO:0054374", "UBERON:0010543", "HP:0001507", - "UPHENO:0054299", - "UBERON:0000047", - "HP:0000568", - "UPHENO:0075219", + "UPHENO:0054304", + "UPHENO:0010808", + "GO:0006974", + "HP:0004323", + "UPHENO:0049874", + "UBERON:0010230", + "UPHENO:0049642", + "UBERON:0001456", "UBERON:0004088", "UBERON:0004456", + "UBERON:0000019", + "HP:0000568", + "HP:0000315", "UPHENO:0069523", - "UPHENO:0080209", - "GO:0033554", - "UBERON:0000970", - "UBERON:0001456", + "HP:0008056", + "HP:0011793", + "UPHENO:0002928", "UPHENO:0087924", - "HP:0100887", "HP:0000478", + "UPHENO:0002866", + "HP:0100887", "UPHENO:0002910", - "UPHENO:0020041", - "HP:0000271", - "HP:0011025", - "HP:0000315", - "UPHENO:0087472", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", - "UBERON:0000020", - "HP:0004312", + "GO:0033554", + "UBERON:0000970", + "HP:0000978", + 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"HP:0012874", - "UBERON:0002104", - "HP:0006503", - "HP:0009142", - "UBERON:0004535", - "UPHENO:0002751", - "UBERON:0002495", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0001249", - "UBERON:0001968", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", + "UPHENO:0084763", + "HP:0006501", + "HP:0012639", + "UPHENO:0003005", "UPHENO:0076799", "HP:0000119", + "UPHENO:0011566", "UPHENO:0081511", + "UPHENO:0053610", "UBERON:0004176", - "UBERON:0010741", - "UPHENO:0081755", - "UBERON:0002471", - "CL:0000151", - "UPHENO:0069254", - "UBERON:0000949", - "UBERON:0003466", - "UPHENO:0086045", - "HP:0011875", - "UPHENO:0085042", - "HP:0012145", - "UPHENO:0087355", - "CL:0000457", - "UPHENO:0087339", - "CL:0000458", - "UBERON:0001690", - "UBERON:0015410", - "UPHENO:0086173", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0084761", - "HP:0001872", - "UBERON:0011584", - "UPHENO:0084987", + "UPHENO:0008865", + "UPHENO:0079876", + "HP:0011355", + "UPHENO:0082875", + "HP:0000104", + "UPHENO:0011492", + "UPHENO:0026095", + "UPHENO:0010763", + "UPHENO:0025545", + "UPHENO:0025955", + "UPHENO:0076754", + "HP:0040072", + "CL:0000094", + "UBERON:0010912", + "UPHENO:0025883", + "HP:0040064", + "HP:0001167", + "HP:0002813", + "HP:0002818", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0002736", + "UPHENO:0086173", + "HP:0011875", + "CL:0000458", + "CL:0000457", + "HP:0004275", + "UBERON:0010314", + "UPHENO:0053633", + "HP:0001873", "UPHENO:0052231", "HP:0000028", - "HP:0001510", - "UPHENO:0086023", - "HP:0004742", - "UBERON:0003620", - "HP:0012130", - "CL:0000300", - "UPHENO:0005597", - "CL:0000586", - "HP:0001627", - "UPHENO:0049970", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "HP:0003953", - "GO:0048609", - "GO:0003006", - "HP:0001000", - "UPHENO:0080382", - "GO:0000003", - "UPHENO:0076718", - "UPHENO:0005651", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0015228", - "CL:0000015", - "HP:0008669", + "UPHENO:0085344", + "UPHENO:0002733", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0000473", + "UPHENO:0053563", + "HP:0001872", + "UPHENO:0084761", "HP:0000811", - "UPHENO:0086201", - "UPHENO:0053298", + "UPHENO:0002682", "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0076941", - "UPHENO:0002764", - "UPHENO:0002597", - "CL:0000413", - "CL:0000039", - "UBERON:0011216", - "UBERON:0004175", - "UPHENO:0086198", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", - "HP:0012041", - "UPHENO:0079826", - "UBERON:0004122", - "UPHENO:0002595", - "UBERON:0015063", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0078452", + "UPHENO:0011559", + "UPHENO:0002685", + "UPHENO:0024906", + "HP:0001876", + "HP:0000118", + "UPHENO:0002940", + "HP:0001871", + "UBERON:0000079", + "UBERON:0003135", + "UPHENO:0005097", + "UBERON:0009569", + "UPHENO:0002983", + "UBERON:0002398", + "UPHENO:0080209", + "UPHENO:0053561", "HP:0005918", "HP:0012243", - "UPHENO:0012541", - "HP:0004325", - "UPHENO:0031839", - "UPHENO:0046411", - "UBERON:0004381", - "UPHENO:0011498", - "UPHENO:0046624", + "UBERON:0005156", + "HP:0000032", + "UPHENO:0002381", + "UBERON:0011676", + "HP:0002973", + "HP:0001172", + "UPHENO:0076723", + "UBERON:0019221", + "UBERON:0000468", + "UPHENO:0087349", + "UBERON:0002389", + "UPHENO:0046505", + "UPHENO:0069684", + "UBERON:0002390", + "UPHENO:0003082", + "UPHENO:0069674", + "UPHENO:0069266", + "UBERON:0002470", + "UBERON:0012139", + "UPHENO:0002403", + "HP:0009381", + "UPHENO:0049952", + "HP:0040068", + "UPHENO:0002708", + "HP:0000789", + "UBERON:0004710", + "UPHENO:0088162", + "UPHENO:0002782", + "UBERON:0005451", + "UBERON:0012140", + "UPHENO:0081566", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0002909", + "HP:0001000", + "HP:0012210", + "UBERON:0008962", + "UBERON:0001463", + "HP:0005922", + "UPHENO:0078606", + "HP:0006265", + "UPHENO:0087510", + "UBERON:5002544", + "UPHENO:0074575", + "UPHENO:0046707", + "UPHENO:0069327", + "UBERON:0001015", + "UPHENO:0069062", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010468", + "UPHENO:0012440", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "UPHENO:0046750", + "UPHENO:0049671", + "HP:0009601", "UPHENO:0008668", - "UPHENO:0068971" + "UPHENO:0068971", + "CL:0000225", + "UPHENO:0046741", + "UBERON:0002544", + "UPHENO:0026308", + "UBERON:0003133", + "UBERON:5006048", + "UBERON:5002389", + "UPHENO:0025845", + "UPHENO:0075195", + "UPHENO:0002352", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0046411", + "UPHENO:0001002", + "UPHENO:0012308", + "UPHENO:0008548", + "HP:0000085", + "UPHENO:0026108", + "UPHENO:0002576", + "BFO:0000003", + "GO:0043473", + "UPHENO:0049587", + "BFO:0000015", + "UPHENO:0027017", + "HP:0012638", + "HP:0011927", + "GO:0050877", + "UBERON:0002049", + "UPHENO:0011533", + "UBERON:0001016", + "UPHENO:0002269" ], "has_phenotype_closure_label": [ - "Decreased fertility in males", - "Decreased fertility", - "abnormal response to stress", - "DNA repair", "response to stress", - "abnormal cellular response to stress", - "abnormal DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Abnormality of the cell cycle", - "G2 phase", + "Abnormality of DNA repair", + "response to stimulus", + "DNA repair", + "DNA damage response phenotype", + "nucleobase-containing compound metabolic process phenotype", + "organic cyclic compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "metabolic process phenotype", + "macromolecule metabolic process phenotype", "cell cycle phase", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", + "Abnormality of the cell cycle", + "interphase", "ear", - "abnormal ear", + "sensory perception", + "decreased sensory perception", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "anatomical line", - "body part movement", + "decreased qualitatively system process", + "decreased qualitatively sensory perception of sound", + "sensory perception phenotype", + "ear physiology phenotype", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "decreased system process", + "Hearing impairment", + "sense organ physiology phenotype", + "nucleic acid metabolic process phenotype", + "lateral structure physiology phenotype", "immaterial anatomical entity", - "behavior", - "response to stimulus", "eye movement", - "abnormal eye movement", "Strabismus", - "behavior process", - "abnormal response to stimulus", - "Abnormality of body height", + "body part movement", + "multicellular organismal process phenotype", + "anatomical line", + "behavior", + "decreased qualitatively sensory perception of mechanical stimulus", + "eye physiology phenotype", + "Atypical behavior", + "camera-type eye physiology phenotype", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "multicellular organism height phenotype", "Short stature", + "size of multicellular organism phenotype", "delayed biological_process", - "abnormal DNA damage response", - "delayed growth", - "abnormal size of multicellular organism", - "Horseshoe kidney", - "shape anatomical entity", + "Abnormality of body height", + "Decreased fertility in males", + "Decreased fertility", + "Male infertility", + "3-D shape anatomical entity", "Abnormality of eye movement", "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", + "Abnormal renal collecting system morphology", + "macromolecule metabolic process", + "Duplicated collecting system", "Neoplasm", - "Hematological neoplasm", - "vasculature", + "Leukemia", + "neoplasm phenotype", + "biological_process rate phenotype", + "increased qualitatively biological_process", + "Localized skin lesion", + "Hyperpigmentation of the skin", + "Cafe-au-lait spot", + "Macule", + "vascular system", "Abnormality of the vasculature", - "blood circulation", - "Bruising susceptibility", - "Subcutaneous hemorrhage", - "abnormality of cardiovascular system physiology", + "anatomical cluster phenotype", "Generalized abnormality of skin", - "Internal hemorrhage", - "Abnormality of blood circulation", "Vascular skin abnormality", - "vascular system", - "Abnormal bleeding", - "abnormal anatomical entity morphology in the skeleton of manus", + "vasculature", + "Abnormal heart morphology", + "Abnormal cardiovascular system morphology", + "heart morphology phenotype", + "circulatory organ", + "Abnormality of the cardiovascular system", + "heart plus pericardium", + "thoracic cavity element", + "Duplication of thumb phalanx", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", "manual digit bone", - "Duplication of bones involving the upper extremities", + "eye movement phenotype", + "manual digit digitopodial skeleton", "phalanx endochondral element", - "manual digit phalanx endochondral element", - "Duplication of phalanx of hand", - "abnormal phalanx morphology", - "acropodial skeleton", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", "phalanx", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "digitopodium bone", "skeleton of manual acropodium", - "manual digitopodium bone", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", + "digitopodium bone", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular biosynthetic process", + "metabolic process", "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "regulation of biosynthetic process", - "individual digit of digitopodial skeleton", - "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "Abnormality of DNA repair", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "decreased height of the anatomical entity", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "Duplicated collecting system", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "negative regulation of macromolecule metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", + "negative regulation of gene expression", "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "negative regulation of cellular process phenotype", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "regulation of cellular biosynthetic process phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "multicellular organism mass phenotype", + "material anatomical entity mass phenotype", + "decreased anatomical structure mass", + "decreased material anatomical entity mass", "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormal growth", - "decreased anatomical entity mass", - "abnormal cell cycle", - "Duplication of thumb phalanx", - "abnormality of anatomical entity mass", - "sensory system", - "decreased size of the eyeball of camera-type eye", - "simple eye", - "eyeball of camera-type eye", "camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "abnormal camera-type eye morphology", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "entire sense organ system", + "Abnormality of the orbital region", + "camera-type eye morphology phenotype", "Abnormality of the eye", - "abnormal face", + "face phenotype", "orbital region", - "abnormal eyeball of camera-type eye", - "abnormal size of eyeball of camera-type eye", - "visual system", - "Abnormality of the orbital region", - "Abnormality of the face", "sense organ", "Microphthalmia", - "abnormal enucleated reticulocyte morphology", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "size of eyeball of camera-type eye phenotype", + "simple eye", + "sensory system", + "face morphology phenotype", + "Abnormal eye morphology", + "orbital region phenotype", + "number of anatomical enitites of type reticulocyte phenotype", + "decreased number of reticulocyte", + "enucleated reticulocyte", + "reticulocyte", + "enucleated reticulocyte morphology phenotype", + "vasculature phenotype", + "growth phenotype", + "Abnormality of the endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "sense organ phenotype", + "Abnormality of reproductive system physiology", + "decreased functionality of the organ", + "reproductive system physiology phenotype", + "multicellular anatomical structure physiology phenotype", + "Puberty and gonadal disorders", + "decreased functionality of the material anatomical entity", + "reproductive organ physiology phenotype", + "decreased functionality of the anatomical entity", + "endocrine system phenotype", + "Opisthokonta", + "Abnormal brain morphology", + "Abnormal skull morphology", + "Abnormality of head or neck", + "regional part of nervous system", + "brain", + "regional part of brain", + "craniocervical region phenotype", + "cardiovascular system morphology phenotype", + "Growth abnormality", + "axial skeletal system", + "cranial skeletal system", + "structure with developmental contribution from neural crest", + "head phenotype", + "telencephalon", + "Abnormal axial skeleton morphology", + "Hematological neoplasm", + "regional part of nervous system phenotype", + "organism", + "cell cycle phenotype", + "regional part of brain phenotype", + "subdivision of organism along main body axis phenotype", + "size of skull phenotype", + "craniocervical region", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "subdivision of skeletal system phenotype", "Abnormality of body weight", "aplasia or hypoplasia of telencephalon", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Non-obstructive azoospermia", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "system process", - "Duplication of hand bones", - "abnormal nitrogen compound metabolic process", - "nervous system process", + "decreased multicellular organismal process", + "root", + "primary metabolic process phenotype", + "forebrain morphology phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "Decreased head circumference", + "postcranial axial skeleton", "axial skeleton plus cranial skeleton", - "Abnormal appendicular skeleton morphology", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "acropodium region", - "Intellectual disability", - "bone marrow", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "segment of manus", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal immune system morphology", + "structure with developmental contribution from neural crest phenotype", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "Infertility", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "skull phenotype", + "telencephalon morphology phenotype", + "cellular response to stress phenotype", + "craniocervical region morphology phenotype", + "localised cavitated compound organ", + "manual digitopodium bone", + "localised lateral structure", + "negative regulation of gene expression phenotype", + "localised compound organ", + "localised trunk region element", + "Abnormal localization of kidney", + "Duplication of bones involving the upper extremities", + "localised abdominal segment element", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "Aplasia involving bones of the extremities", + "All", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "G2 phase", + "nervous system phenotype", + "paired limb/fin segment phenotype", + "Aplasia involving bones of the upper limbs", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "limb long bone", + "eye", + "compound organ", + "zeugopodial skeleton", + "endocrine system", + "head morphology phenotype", + "forelimb skeleton", "genitourinary system", - "decreased qualitatively reproductive process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", + "skeleton phenotype", + "absent forelimb endochondral element", + "limb phenotype", "paired limb/fin skeleton", - "arm", + "agenesis of anatomical entity", + "absent bone of free limb or fin in the limb", + "absent lateral structure", "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", "Aplasia/Hypoplasia of the radius", - "Abnormal finger phalanx morphology", - "pigmentation", + "subdivision of skeleton", + "decreased length of autopodial extension", + "ectoderm-derived structure", "bone of appendage girdle complex", - "Male infertility", - "abnormal limb morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "entity", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal autopod region morphology", - "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", + "Abnormal forebrain morphology", + "forelimb", + "Abnormal skeletal morphology", + "pathological phenotype observation", + "decreased functionality of the gonad", + "decreased size of the anatomical entity in the pectoral complex", + "skeleton of limb", + "Aplasia involving forearm bones", + "aplastic forelimb zeugopod bone", + "absent limb bone in the limb", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "absent arm bone in the forelimb", + "paired limb/fin phenotype", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "cardiovascular system", + "absent skeletal element", + "aplastic anatomical entity", + "arm phenotype", + "hematopoietic system", + "response to stress phenotype", + "Small for gestational age", + "Abnormal forearm morphology", + "testis phenotype", + "upper urinary tract phenotype", + "absent compound organ", + "decreased size of the organism subdivision", + "Renal hypoplasia/aplasia", + "digit phenotype", + "renal system", + "absent manual digit", + "absent anatomical entity in the renal system", + "cell", "limb", "Neoplasm by anatomical site", "Decreased anatomical entity mass", "Abnormality of the upper limb", - "cell", - "absent anatomical entity in the renal system", - "skeleton", - "male gamete generation", - "absent anatomical entity", - "Abnormal digit morphology", - "appendicular skeletal system", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", - "agenesis of anatomical entity", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "abnormal digit morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of manus", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", - "skeletal system", - "motile cell", - "aplastic anatomical entity", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "abnormally decreased number of myeloid cell", - "face", - "aplasia or hypoplasia of manual digit", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", + "main body axis", + "gonad physiology phenotype", + "forebrain", + "myeloid leukocyte phenotype", + "localised multicellular anatomical structure", + "excretory system", + "cellular process", + "long bone morphology phenotype", + "number of anatomical enitites of type kidney phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "trunk", + "absent trunk region element in the multicellular organism", + "absent material anatomical entity in the multicellular organism", + "lateral structure phenotype", + "Irregular hyperpigmentation", + "male organism", + "absent trunk region element in the renal system", "regulation of metabolic process", "Decreased body weight", + "decreased size of the ectoderm-derived structure", "manual digit 1", "autopodial extension", - "digit plus metapodial segment", - "Short thumb", - "enucleated reticulocyte", + "Chromosome breakage", + "trunk region element phenotype", + "forelimb long bone", + "localised male reproductive organ", + "Abnormal conjugate eye movement", + "forelimb bone", + "renal/urinary system phenotype", + "decreased qualitatively biological_process", + "ear phenotype", + "anatomical entity", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "appendicular skeletal system", + "Renal agenesis", "Abnormality of the kidney", - "excretory system", - "bone marrow cell", - "circulatory system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "abnormal myeloid cell morphology", - "increased biological_process", - "sexual reproduction", - "Macule", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "quality", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abdomen element", + "manual digit phalanx endochondral element", + "number of anatomical enitites of type trunk region element phenotype", + "decreased functionality of the reproductive structure", + "Cryptorchidism", + "cell cycle", + "pectoral complex", + "decreased size of the material anatomical entity", + "body proper", + "absent cavitated compound organ", + "Abnormality of the upper urinary tract", + "number of anatomical enitites of type lateral structure phenotype", + "bone of appendage girdle complex phenotype", + "trunk region element", + "decreased size of the manual digit", + "Hypermelanotic macule", + "absent kidney in the renal system", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent material anatomical entity in the renal system", + "Abnormal platelet count", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "number of anatomical enitites of type organ phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "central nervous system morphology phenotype", + "Abnormality of the nervous system", + "cavitated compound organ phenotype", "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "DNA damage response", - "lateral structure", - "abnormal vasculature", - "abnormal genitourinary system", - "changed developmental process rate", - "Abnormal cerebral morphology", - "abnormal blood circulation", - "arm bone", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "abnormal hematopoietic system", - "Renal agenesis", + "Absent thumb", + "absent radius endochondral element", + "Abnormal reticulocyte morphology", + "number of hematopoietic cell phenotype", + "renal system phenotype", + "nucleic acid metabolic process", + "absent endochondral bone in the limb", + "Abnormal renal morphology", + "absent forelimb zeugopod bone in the forelimb", + "Abnormal myeloid leukocyte morphology", + "compound organ phenotype", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "arm", + "Anemic pallor", + "absent limb long bone in the forelimb", + "multicellular anatomical structure mass phenotype", + "male reproductive organ phenotype", + "number of anatomical enitites of type compound organ phenotype", + "leukocyte", + "simple eye phenotype", + "abdomen element", + "DNA damage response", + "lateral structure", + "cellular process phenotype", + "multicellular organism phenotype", + "external genitalia phenotype", + "appendicular skeleton morphology phenotype", + "occurrent", "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "nucleate cell", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "renal system", - "absent digit", - "phenotype", + "decreased number of platelet", + "decreased number of anatomical entity", + "absent anatomical structure in the forelimb", + "integument phenotype", + "biological regulation", + "absent trunk region element", + "abdominal segment of trunk", + "Abnormal cellular phenotype", + "Duplication of phalanx of hand", + "number of anatomical enitites of type cavitated compound organ phenotype", + "reproductive structure physiology phenotype", + "number of anatomical enitites of type granulocyte phenotype", + "abdominal segment element", + "decreased number of neutrophil", + "renal collecting system phenotype", + "musculature", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "decreased size of the autopodial extension", + "absent bone of pectoral complex in the limb", + "digit 1 digitopodial skeleton", + "decreased number of myeloid cell", + "limb endochondral element", + "absent limb bone", "Abnormal cell morphology", + "phenotype", + "eye phenotype", + "Abnormal cellular immune system morphology", "skeletal element", + "regulation of biosynthetic process phenotype", "zeugopod", - "Abnormal cellular immune system morphology", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "regional part of nervous system", - "abdominal segment element", - "abnormal reproductive system morphology", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "hemolymphoid system", - "biological_process", - "myeloid leukocyte", - "entire sense organ system", - "absent radius bone in the independent continuant", - "Abnormal localization of kidney", - "biological regulation", - "abdominal segment of trunk", + "radius endochondral element", + "taxon specific phenotype", + "granulocyte morphology phenotype", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "nervous system process phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "Bruising susceptibility", + "absent compound organ in the renal system", "renal collecting system", "Ectopic kidney", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal immune system", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", - "abnormal renal system morphology", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "absent kidney in the renal system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "reproduction", - "absent anatomical entity in the multicellular organism", - "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", - "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Aplasia/hypoplasia involving the skeleton", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "subdivision of trunk", - "absent manual digit", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "body proper", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "continuant", - "abnormality of ear physiology", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", - "cellular metabolic process", - "Abnormality of neutrophils", - "leukocyte", - "abnormal gamete generation", - "protein-containing material entity", - "gamete generation", - "abnormally decreased number of cell in the independent continuant", - "abnormal neutrophil", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "phalanx of manus", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", - "abnormal nervous system", - "paired limb/fin segment", - "abnormality of camera-type eye physiology", - "immune system", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "Absent forearm bone", - "Leukemia", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", + "immune system morphology phenotype", + "cell phenotype", + "obsolete cell", + "programmed DNA elimination", + "anatomical entity morphology phenotype", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "localised kidney", + "absent anatomical structure", + "absent cavitated compound organ in the renal system", + "decreased number of anatomical structure", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", + "platelet phenotype", + "integument", + "erythroid lineage cell morphology phenotype", + "Abnormality of the integument", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "Microcephaly", + "multi-tissue structure phenotype", + "Abnormality of the musculoskeletal system", + "circulatory system", + "bone marrow cell", + "regulation of gene expression phenotype", + "brain morphology phenotype", + "system", + "absent forelimb bone in the forelimb", + "multicellular organism morphology phenotype", + "cavitated compound organ", + "Abnormal leukocyte count", + "number of anatomical enitites of type neutrophil phenotype", "blood cell", "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", "Abnormal myeloid cell morphology", "U-shaped kidney", "digit 1 or 5", - "skeleton of manual digitopodium", - "primary circulatory organ", + "entity", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", + "subdivision of organism along main body axis", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "Abnormal immune system morphology", + "number of platelet phenotype", + "external genitalia", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "arm bone", + "absent kidney", + "increased pigmentation", + "material anatomical entity phenotype", + "forelimb long bone phenotype", + "nucleobase-containing compound metabolic process", + "manus morphology phenotype", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "anatomical entity morphology in the appendage girdle complex phenotype", + "bone of free limb or fin phenotype", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "immune system", + "Absent forearm bone", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "organ system subdivision", + "erythrocyte", + "decreased number of cell", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "limb long bone morphology phenotype", + "Abnormality of skin pigmentation", + "phenotypic effect", + "size of anatomical entity phenotype", + "Abnormality of thumb phalanx", + "decreased number of leukocyte", + "absent anatomical structure in the limb", + "absent anatomical entity", + "integumental system", "granulocyte", "Complete duplication of phalanx of hand", "limb bone", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "viscus", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "aplastic manual digit 1", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "abnormality of nervous system physiology", + "absent bone element in the limb", + "myeloid leukocyte", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "Growth delay", + "kidney", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "Abnormal bone marrow cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", + "vision/eye phenotype", + "absent multicellular anatomical structure in the skeletal system", "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", + "number of anatomical enitites of type anatomical entity phenotype", + "neutrophil phenotype", + "external male genitalia", + "decreased functionality of the reproductive organ", + "non-connected functional system", + "skin of body phenotype", + "Abnormal granulocyte count", + "absent bone of appendage girdle complex in the limb", + "number of cell phenotype", + "number of leukocyte phenotype", + "platelet", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "multi-tissue structure", + "limb long bone phenotype", + "musculoskeletal system", + "absent material anatomical entity in the forelimb", + "anatomical system phenotype", + "musculature phenotype", + "number of myeloid cell phenotype", + "absent bone element", + "paired limb/fin", + "decreased size of the digit", + "decreased number of material anatomical entity", + "regulation of macromolecule biosynthetic process", + "anatomical structure mass phenotype", + "decreased functionality of the anatomical structure", + "multicellular organism", + "Thrombocytopenia", + "decreased sensory perception of mechanical stimulus", + "phalanx of manus", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "anatomical entity phenotype", + "appendage", + "localised testis", + "bone element", + "mesoderm-derived structure phenotype", + "decreased number of hematopoietic cell", + "absent organ", + "decreased multicellular anatomical structure mass", + "Absent radius", + "cellular metabolic process", + "superficial fascia", + "Abnormality of neutrophils", + "Abnormal morphology of the radius", + "absent lateral structure in the renal system", + "absent abdominal segment element", + "decreased size of the anatomical entity", + "absent material anatomical entity", + "Aplasia/hypoplasia involving bones of the hand", "Abnormal granulocyte morphology", - "abnormally decreased number of granulocyte", - "manual digit 1 plus metapodial segment", - "abdomen", + "glandular system", + "Abnormal male external genitalia morphology", + "absent abdominal segment element in the renal system", + "motile cell", + "skeletal system", + "sensory perception of mechanical stimulus phenotype", + "anatomical line between pupils", + "independent continuant", + "absent abdomen element", "neutrophil", - "Complete duplication of thumb phalanx", - "manual digit 1 phalanx", - "abnormal forelimb zeugopod bone", - "Abnormal myeloid leukocyte morphology", + "subdivision of head phenotype", + "blood cell phenotype", + "decreased number of granulocyte", + "multicellular anatomical structure phenotype", + "Hearing abnormality", + "absent anatomical structure in the renal system", + "continuant", + "absent bone of free limb or fin in the forelimb", + "manual digit 1 phalanx endochondral element", + "forelimb zeugopod bone morphology phenotype", + "tissue", + "decreased sensory perception of sound", + "anatomical system physiology phenotype", + "anatomical structure", + "Abnormal bleeding", + "immune system phenotype", + "skeleton", + "paired limb/fin segment", + "erythrocyte morphology phenotype", + "skeletal element phenotype", + "limb segment", + "forelimb morphology phenotype", + "cellular organisms", + "Abnormal neutrophil count", + "oxygen accumulating cell", + "protein-containing material entity", + "segment of manus", + "eukaryotic cell", + "absent radius bone in the forelimb", + "skeletal system morphology phenotype", + "kidney phenotype", + "material anatomical entity", + "skin of body morphology phenotype", + "hematopoietic system phenotype", + "ectoderm-derived structure phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "forelimb endochondral element phenotype", + "subdivision of organism along appendicular axis phenotype", "Pancytopenia", - "abnormal head", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", - "organism", - "programmed DNA elimination", - "obsolete cell", - "internal male genitalia", - "Abnormal granulocyte count", - "eye", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal hematopoietic cell morphology", - "biological phase", - "autopod bone", - "mesoderm-derived structure", - "abnormal manus", - "craniocervical region", - "abnormal forebrain morphology", - "multi-tissue structure", - "abnormal craniocervical region morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", - "Decreased head circumference", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "abnormal head morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "spermatogenesis", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "Infertility", - "negative regulation of cellular metabolic process", - "Eukaryota", - "kinesthetic behavior", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "manual digit 1 phalanx endochondral element", - "tissue", - "absent anatomical entity in the semen", - "limb skeleton subdivision", - "skull", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "absent sperm in the semen", - "bone of pectoral complex", - "decreased length of anatomical entity", - "autopod endochondral element", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb", - "Abnormal forebrain morphology", - "multicellular organismal reproductive process", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Abnormal renal morphology", - "abnormal external genitalia", - "Abnormal axial skeleton morphology", + "acropodium region", + "Abnormal skin morphology", + "telencephalon phenotype", + "male reproductive system phenotype", + "forelimb zeugopod", + "absent limb long bone", + "decreased length of material anatomical entity", + "absent organ in the renal system", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "acropodial skeleton", + "autopod region morphology phenotype", + "absent limb endochondral element in the forelimb", + "number of anatomical enitites of type endochondral bone phenotype", + "DNA metabolic process phenotype", + "hemolymphoid system", + "multi-limb segment region phenotype", + "aplasia or hypoplasia of skeleton", + "renal system morphology phenotype", + "radius bone morphology phenotype", + "absent radius endochondral element in the forelimb", "non-material anatomical boundary", "erythroid lineage cell", - "reproductive organ", - "abnormal skull morphology", - "Abnormality of brain morphology", + "absent limb bone in the forelimb", + "Aplasia/hypoplasia involving bones of the extremities", + "absent mesoderm-derived structure", + "digit 1 plus metapodial segment", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "number of anatomical enitites of type abdominal segment element phenotype", + "number of anatomical enitites of type skeletal element phenotype", + "nervous system physiology phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "manus phenotype", + "Aplasia/hypoplasia of the extremities", + "absent skeletal element in the limb", + "Pallor", + "absent radius bone", + "decreased length of anatomical structure", + "absent anatomical structure in the skeletal system", + "absent limb endochondral element in the limb", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "behavior phenotype", "nervous system", "forelimb zeugopod bone", - "heart plus pericardium", - "Cryptorchidism", - "thoracic segment organ", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "circulatory organ", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Abnormality of cardiovascular system morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "integumental system", - "integument", - "absent radius bone in the forelimb", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Growth delay", - "kidney", - "abnormal biological_process", - "Abnormality of skin morphology", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Neutropenia", - "reproductive structure", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "germ line cell", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal integument", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "limb segment", - "absent sperm", - "abnormal endocrine system", - "abnormally decreased number of reticulocyte", - "Abnormality of the endocrine system", - "Abnormality of reproductive system physiology", - "gamete", - "male gamete", - "abnormally decreased functionality of the gonad", + "decreased functionality of the multicellular anatomical structure", + "decreased length of manual digit 1 or 5", + "radius bone phenotype", + "decreased length of digit 1", + "increased biological_process", + "absent bone of free limb or fin", + "aplastic manual digit 1", + "number of anatomical enitites of type bone element phenotype", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "Abnormal cerebral morphology", + "absent endochondral element in the limb", + "limb segment phenotype", + "decreased size of the organ", + "absent forelimb bone", + "multi-limb segment region", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "forelimb bone phenotype", + "absent multicellular anatomical structure in the limb", + "decreased size of the sense organ", + "quality", + "anatomical collection phenotype", + "subdivision of head", + "appendage girdle complex", + "absent mesoderm-derived structure in the forelimb", + "cellular response to stimulus phenotype", + "Abnormal appendicular skeleton morphology", + "absent bone element in the forelimb", + "Reticulocytopenia", + "absent endochondral element in the forelimb", + "absent forelimb bone in the limb", "Abnormality of the genital system", - "glandular system", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "manus bone", - "radius bone", - "Abnormality of the hand", - "Anemia", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "absent kidney", - "subdivision of skeletal system", - "abnormally decreased number of neutrophil", - "absent kidney in the independent continuant", - "Aplasia involving bones of the upper limbs", - "eukaryotic cell", - "abnormal limb long bone morphology", - "absent forelimb zeugopod bone", - "forelimb zeugopod skeleton", - "abnormal size of skull", - "forelimb long bone", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", - "Pallor", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "Absent radius", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal behavior", - "radius endochondral element", + "vestibulo-auditory system", + "absent limb endochondral element", + "upper limb segment phenotype", + "endochondral element phenotype", + "absent long bone in the forelimb", + "manual digit 1 morphology phenotype", + "absent organ in the limb", + "Abnormal leukocyte morphology", + "organ phenotype", + "absent bone of appendage girdle complex", + "Abnormal platelet morphology", + "autopod endochondral element", + "homeostatic process phenotype", + "central nervous system", + "Abnormality of limb bone", + "absent endochondral element", + "absent endochondral bone in the forelimb", + "simple eye physiology phenotype", + "absent organ in the forelimb", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "limb bone morphology phenotype", + "delayed growth", + "arm bone phenotype", + "number of anatomical enitites of type abdomen element phenotype", + "limb endochondral element phenotype", + "anatomical entity length phenotype", + "digit", "sensory perception of mechanical stimulus", - "abnormally decreased number of anatomical entity", "skin of body", "Abnormal upper limb bone morphology", - "abnormal radius bone morphology", - "forelimb zeugopod", - "abnormal testis morphology", - "aplastic forelimb zeugopod bone", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal cellular process", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", + "bone of pectoral complex phenotype", + "aplasia or hypoplasia of manual digit 1", + "endochondral element", + "skeleton of pectoral complex", + "forelimb zeugopod morphology phenotype", + "manual digit morphology in the manus phenotype", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "absent forelimb endochondral element in the limb", + "appendage phenotype", + "organism subdivision phenotype", + "Abnormality of limbs", + "bone of pectoral complex morphology phenotype", + "negative regulation of metabolic process phenotype", + "Short finger", + "absent long bone", + "Aplasia/hypoplasia involving the skeleton", + "Abnormality of globe size", + "bone element phenotype", + "absent bone of pectoral complex in the forelimb", + "aplasia or hypoplasia of radius bone", + "primary circulatory organ", + "skeleton of manual digitopodium", + "absent endochondral bone", + "localised organ", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "absent bone of appendage girdle complex in the forelimb", + "absent skeletal element in the forelimb", + "behavior process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "number of anatomical enitites of type endochondral element phenotype", + "anatomical entity physiology phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "cognition", + "endochondral bone phenotype", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "decreased length of manual digit", + "Aplasia/hypoplasia involving forearm bones", + "absent organ in the multicellular organism", + "multicellular organismal process", + "U-shaped anatomical entity", + "long bone phenotype", + "absent forelimb zeugopod bone", + "forelimb zeugopod bone phenotype", + "Abnormal finger phalanx morphology", + "pigmentation", + "shape of continuant phenotype", "anucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "cellular organisms", - "Abnormal neutrophil count", - "obsolete multicellular organism reproduction", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", "serotonin secreting cell", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "digit 1", - "abnormal platelet morphology", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "developmental process involved in reproduction", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "germ cell", - "absent gamete", - "sperm", - "abnormal gamete", - "Reticulocytopenia", - "organism substance", - "haploid cell", + "Abnormality of thrombocytes", + "limb bone phenotype", + "secretory cell", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "localised anatomical structure", + "testis", + "skull morphology phenotype", + "localised reproductive structure", + "behavior process phenotype", + "reproductive system phenotype", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "nucleate cell", + "reproductive structure phenotype", + "viscus", + "anatomical entity mass phenotype", + "reproductive organ phenotype", + "skull", + "absent material anatomical entity in the skeletal system", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "cardiovascular system phenotype", + "localised abdomen element", + "Abnormal testis morphology", "disconnected anatomical group", - "abnormal cell", "male reproductive organ", - "internal genitalia", - "abnormal internal genitalia", - "platelet", - "absent sperm in the independent continuant", - "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "reproductive process", + "absent arm bone", + "reproductive organ", + "gonad phenotype", + "response to stimulus phenotype", + "reproductive system", + "Abnormal eye physiology", + "segment of autopod", + "localised material anatomical entity", + "Aplasia/Hypoplasia of fingers", + "Neutropenia", + "reproductive structure", + "external male genitalia phenotype", + "Abnormality of mental function", + "increased biological_process in skin of body", + "localised anatomical entity", + "decreased size of the multicellular anatomical structure", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "absent mesoderm-derived structure in the limb", + "autopod region phenotype", + "anatomical entity morphology in the manus phenotype", + "autopodial skeleton", + "ectoderm-derived structure physiology phenotype", "shape kidney", "negative regulation of metabolic process", + "nervous system morphology phenotype", "manual digit 1 or 5", - "developmental process", - "Abnormal external genitalia", "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "interphase", - "semen", - "Abnormal testis morphology", - "male germ cell", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "male organism", - "abnormal granulocyte morphology", - "Azoospermia", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "testis", - "external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "Short finger", - "Abnormal reticulocyte morphology", - "decreased length of anatomical entity in independent continuant", + "abdomen", + "manual digit 1 plus metapodial segment", + "decreased length of organism subdivision", + "bone of pectoral complex", + "decreased length of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", "anterior region of body", "decreased length of manual digit 1", - "manual digitopodium region", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "decreased length of digit", + "skeleton of manus", + "digitopodium region", + "camera-type eye phenotype", + "manus", + "Anemia", + "manus bone", + "radius bone", + "Abnormality of the hand", + "face", + "aplasia or hypoplasia of manual digit", + "digit 1", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "decreased length of multicellular anatomical structure", + "digit 1 phenotype", + "Abnormal digit morphology", + "absent abdomen element in the renal system", + "digit morphology phenotype", + "digit 1 or 5 phenotype", + "autopodial extension phenotype", + "manual digit plus metapodial segment", + "manual digit phenotype", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "pigmentation phenotype", + "Short thumb", + "DNA repair phenotype", "skeleton of digitopodium", + "absent multicellular anatomical structure in the renal system", "Short digit", - "reticulocyte" + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "manual digitopodium region", + "decreased length of digit", + "skeletal system phenotype", + "digit plus metapodial segment", + "Metazoa", + "Abnormal hand morphology", + "organ", + "decreased size of the anatomical structure", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "Subcutaneous hemorrhage", + "absent organism subdivision in the multicellular organism", + "abdominal segment element phenotype", + "Finger aplasia", + "absent organism subdivision", + "Neurodevelopmental abnormality", + "absent autopodial extension", + "Abnormal limb bone morphology", + "absent digit", + "number of anatomical enitites of type organism subdivision phenotype", + "genitourinary system phenotype", + "biological_process", + "process", + "Duplication of hand bones", + "nervous system process", + "anatomical structure physiology phenotype", + "bone marrow", + "Intellectual disability", + "system process", + "Hypergonadotropic hypogonadism", + "material anatomical entity physiology phenotype" ], "has_phenotype_count": 34, "highlight": null, @@ -1696,7 +2016,13 @@ "full_name": null, "deprecated": null, "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", - "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], + "xref": [ + "DOID:0111082", + "GARD:15754", + "MEDGEN:854018", + "OMIM:614083", + "UMLS:C3469528" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, @@ -1718,25 +2044,25 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0007018", "HP:0000470", - "HP:0008551", + "HP:0007018", "HP:0009777", - "HP:0004590", "HP:0002575", "HP:0000238", - "HP:0000369", + "HP:0040012", "HP:0000465", - "HP:0000957", - "HP:0002023", "HP:0000582", - "HP:0001510", + "HP:0008551", + "HP:0004590", "HP:0000316", + "HP:0002188", "HP:0001776", + "HP:0000369", "HP:0000347", "HP:0003974", + "HP:0001510", "HP:0001511", + "HP:0000568", "HP:0009892", "HP:0000151", "HP:0001263", @@ -1744,37 +2070,37 @@ "HP:0002032", "HP:0011968", "HP:0001321", + "HP:0000431", "HP:0000175", "HP:0000054", + "HP:0005528", "HP:0000437", "HP:0001903", + "HP:0000957", "HP:0000122", - "HP:0002188", - "HP:0000568", - "HP:0000431", - "HP:0005528", - "HP:0000089" + "HP:0000089", + "HP:0002023" ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", "Short neck", - "Microtia", + "Attention deficit hyperactivity disorder", "Absent thumb", - "Hypoplastic sacrum", "Tracheoesophageal fistula", "Hydrocephalus", - "Low-set ears", + "Chromosome breakage", "Webbed neck", - "Cafe-au-lait spot", - "Anal atresia", "Upslanted palpebral fissure", - "Growth delay", + "Microtia", + "Hypoplastic sacrum", "Hypertelorism", + "Delayed CNS myelination", "Bilateral talipes equinovarus", + "Low-set ears", "Micrognathia", "Absent radius", + "Growth delay", "Intrauterine growth retardation", + "Microphthalmia", "Anotia", "Aplasia of the uterus", "Global developmental delay", @@ -1782,1802 +2108,2374 @@ "Esophageal atresia", "Feeding difficulties", "Cerebellar hypoplasia", + "Wide nasal bridge", "Cleft palate", "Micropenis", + "Bone marrow hypocellularity", "Depressed nasal tip", "Anemia", + "Cafe-au-lait spot", "Unilateral renal agenesis", - "Delayed CNS myelination", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", - "Renal hypoplasia" + "Renal hypoplasia", + "Anal atresia" ], "has_phenotype_closure": [ + "UPHENO:0063577", + "UPHENO:0063599", + "UPHENO:0074227", + "UBERON:0001245", + "UPHENO:0002839", + "UPHENO:0074230", "UPHENO:0081210", - "UBERON:0000479", - "HP:0005528", - "HP:0002715", - "HP:0005561", - "UPHENO:0085195", - "UPHENO:0087355", - "UPHENO:0087123", - "HP:0012145", - "UPHENO:0006147", - "UPHENO:0087278", - "UPHENO:0081800", - "UBERON:0008340", - "HP:0000431", - "UPHENO:0006161", - "HP:0000568", - "HP:0100887", - "HP:0008056", - "UPHENO:0000552", - "UPHENO:0050372", - "GO:0048709", - "GO:0048869", - "HP:0012448", - "GO:0007399", - "GO:0032291", - "GO:0022008", - "GO:0010001", + "HP:0000089", + "UPHENO:0011931", + "UPHENO:0026308", + "UBERON:0001008", + "UPHENO:0087427", "UBERON:0000916", - "UPHENO:0083952", "UBERON:8450002", - "UPHENO:0026980", - "UPHENO:0008593", - "UPHENO:0076779", - "UPHENO:0087427", - "HP:0000122", - "GO:0030154", - "UBERON:0002113", "UBERON:0011143", - "UPHENO:0085118", - "UBERON:0002390", - "HP:0020047", - "GO:0014003", - "HP:0001877", - "CL:0000232", - "CL:0000763", - "HP:0012130", - "HP:0001903", - "UPHENO:0004459", - "HP:0000366", - "UPHENO:0082454", - "UPHENO:0041203", - "UPHENO:0041080", - "UPHENO:0075219", - "HP:0005105", - "UPHENO:0087430", - "UPHENO:0041458", - "UBERON:0002268", - "UPHENO:0081585", - "UPHENO:0082356", - "UBERON:0000004", - "UPHENO:0082467", - "HP:0000436", - "HP:0010935", - "UPHENO:0002907", - "HP:0003241", - "UBERON:0003101", - "UBERON:0004053", - "UBERON:0008811", - "HP:0008736", - "UBERON:0000989", - "HP:0010461", - "UPHENO:0050406", - "HP:0000811", - "UBERON:0001008", - "UPHENO:0081320", - "UPHENO:0002948", - "UPHENO:0087643", - "HP:0000054", - "HP:0000032", - "UPHENO:0087802", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0080209", - "UPHENO:0068843", - "HP:0000175", - "HP:0000202", - "UBERON:0004089", - "UPHENO:0076786", - "UBERON:0002553", - "UBERON:0001716", - "UBERON:0000464", - "UBERON:0001709", - "UPHENO:0075655", - "UPHENO:0033635", - "HP:0011283", - "NCBITaxon:6072", - "UPHENO:0076720", - "UPHENO:0080089", - "NCBITaxon:131567", - "UPHENO:0020013", - "UBERON:0004732", - "UBERON:0002028", - "UBERON:0002037", - "UBERON:0001895", - "NCBITaxon:33154", - "UPHENO:0081601", - "GO:0007417", - "UBERON:0004176", - "UBERON:0004733", - "NCBITaxon:1", - "HP:0002977", - "UBERON:0000063", - "UBERON:0000073", - "NCBITaxon:2759", - "HP:0011968", - "UPHENO:0063603", - "HP:0002589", - "HP:0003221", - "HP:0001263", - "UBERON:0005156", - "HP:0000151", - "UBERON:0003100", - "UPHENO:0003053", - "UPHENO:0002642", - "UPHENO:0025875", - "UBERON:0003134", - "UBERON:0000995", - "UBERON:0000990", - "UPHENO:0003055", - "HP:0010460", - "UPHENO:0020950", - "UPHENO:0005170", - "HP:0000130", - "UPHENO:0087547", - "UPHENO:0009305", - "UPHENO:0005642", + "HP:0008678", + "UPHENO:0003094", + "HP:0000122", + "UPHENO:0002803", + "UPHENO:0002754", + "UPHENO:0025211", + "UPHENO:0025631", + "UPHENO:0026630", + "HP:0000104", + "HP:0000079", + "UPHENO:0026600", + "UPHENO:0075902", + "UPHENO:3000004", + "UPHENO:0008593", + "UBERON:0000489", + "UPHENO:0002909", "UPHENO:0002832", - "UPHENO:0041098", - "UBERON:0013515", - "GO:0032502", - "CL:0001035", - "UPHENO:0050034", - "UPHENO:0052778", - "UBERON:0012128", - "GO:0009790", - "UPHENO:0068984", - "UPHENO:0050108", - "UPHENO:0005433", - "UPHENO:0080393", - "UBERON:0003466", - "UBERON:0002471", - "UBERON:0010741", - "HP:0000119", - "UPHENO:0081511", - "HP:0003974", - "HP:0003953", - "UPHENO:0076718", - "HP:0009825", - "UBERON:0002405", - "UBERON:0003606", - "HP:0040070", - "UPHENO:0026023", - "HP:5201015", - "HP:0009822", - "UBERON:0000167", - "UPHENO:0086956", - "UBERON:0003607", - "UBERON:0001423", - "UPHENO:0062515", - "UPHENO:0087585", - "UPHENO:0079872", - "UPHENO:0009341", - "HP:0006501", - "UBERON:0002386", - "HP:0025461", - "UPHENO:0009399", - "HP:0009823", - "UBERON:0003457", - "HP:0011821", - "HP:0031816", - "UBERON:0002514", - "UBERON:0007842", - "HP:0030791", - "UPHENO:0083646", - "UPHENO:0081314", - "UPHENO:0061854", - "UPHENO:0084457", - "HP:0009118", - "UPHENO:0088116", - "UBERON:0007375", - "UBERON:0012360", - "UBERON:0000489", - "UBERON:0010323", - "UBERON:0000165", - "HP:0012447", - "HP:0034261", - "GO:0042063", - "HP:0000036", - "UBERON:0011156", - "GO:0007272", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0003278", - "UBERON:0003462", - "UBERON:0001684", - "UBERON:0004768", - "UPHENO:0081141", - "UBERON:0003135", - "HP:0009116", - "HP:0000347", - "UBERON:0010712", - "UBERON:0010708", - "UPHENO:0026628", - "UBERON:0000019", - "BFO:0000141", - "UPHENO:0026183", - "UPHENO:0056072", - "UPHENO:0002905", - "UPHENO:0088162", - "UBERON:0004710", - "HP:0002031", - "UPHENO:0008523", - "UPHENO:0006910", - "HP:0009601", - "UBERON:0000026", - "HP:0002188", - "UPHENO:0033572", - "HP:0009815", - "UPHENO:0088186", - "UBERON:0000075", - "UPHENO:0002901", - "UBERON:0013765", - "UBERON:0015021", - "UBERON:0001708", - "UPHENO:0003074", - "UBERON:0005451", - "UBERON:0007272", - "UBERON:0000467", - "UBERON:0004765", - "UBERON:0002101", - "HP:0001167", - "HP:0000377", - "UPHENO:0076803", - "UBERON:0015212", - "UPHENO:0087478", - "HP:0000078", - "UBERON:0003690", - "UPHENO:0018426", - "HP:0040064", - "UPHENO:0080111", - 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"decreased size of the kidney", - "Bone marrow hypocellularity", - "bone marrow", - "abnormal immune system morphology", - "bone cell", - "tissue", - "Abnormality of bone marrow cell morphology", - "abnormal immune system", - "increased width of anatomical entity", - "abnormal nasal bridge morphology", - "abnormal snout morphology", - "increased width of nasal bridge", - "increased width of the anatomical entity in independent continuant", - "snout", - "Abnormality of globe size", - "Aplasia/Hypoplasia affecting the eye", - "central nervous system myelination", - "gliogenesis", - "decreased size of the eyeball of camera-type eye", - "oligodendrocyte differentiation", - "oligodendrocyte development", - "nervous system development", - "glial cell differentiation", - "abnormal myelination in independent continuant", - "delayed central nervous system myelination", - "abnormal central nervous system myelination in independent continuant", - "abnormal biological_process in central nervous system", - "Abnormal myelination", - "abnormal hematopoietic system morphology", - "system development", - "axon ensheathment", - "abnormal axon ensheathment in central nervous system in independent continuant", - "cellular developmental process", - "abdomen element", - "Abnormality of the kidney", - "absent anatomical entity in the renal system", - "absent kidney", - "cavitated compound organ", - "excretory system", - "abnormal renal system", - "renal system", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "abnormal upper urinary tract", - "abnormal hematopoietic system", - "hematopoietic system", - "abnormal cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormal erythrocyte morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "abnormal size of eyeball of camera-type eye", - "nose tip", - "nose", - "Abnormality of the nose", - "flattened anatomical entity in independent continuant", - "olfactory organ", - "curvature anatomical entity", - "Abnormal external nose morphology", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "flat nose tip", - "external male genitalia", - "Hypoplasia of penis", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal external genitalia", - "decreased size of the external male genitalia", - "Abnormal renal morphology", - "abnormal external genitalia", - "External genital hypoplasia", - "Abnormal penis morphology", - "abnormal penis", - "male reproductive system", - "anatomical cavity", - "abnormal incomplete closing of the secondary palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal midface morphology", - "Orofacial cleft", - "abnormal roof of mouth morphology", - "Craniofacial cleft", - "Abnormal metencephalon morphology", - "Cerebellar hypoplasia", - "Eumetazoa", - "regional part of brain", - "segmental subdivision of nervous system", - "abnormal cerebellum morphology", - "hindbrain", - "external genitalia", - "cerebellum", - "metencephalon", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal metencephalon morphology", - "Abnormal midface morphology", - "regional part of nervous system", - "delayed myelination", - "abnormal hindbrain morphology", - "cerebellum hypoplasia", - "root", - "Feeding difficulties", - "abnormality of digestive system physiology", - "Esophageal atresia", - "esophagus atresia", - "Chromosomal breakage induced by crosslinking agents", - "Neurodevelopmental abnormality", - "Abdominal symptom", - "Abnormal reproductive system morphology", - "abnormal kidney", - "abnormal reproductive system", - "bone marrow cell", - "internal female genitalia", - "Wide nasal bridge", - "abnormal internal female genitalia morphology", - "female organism", - "abnormal female reproductive system", - "Abnormality of the uterus", - "internal genitalia", - "aplasia or hypoplasia of eyeball of camera-type eye", - "uterus", - "abnormal uterus", - "genitourinary system", - "Abnormal morphology of female internal genitalia", - "Aplasia of the uterus", - "reproductive structure", - "abnormal reproductive system morphology", - "female reproductive system", - "aplasia or hypoplasia of uterus", - "oviduct", - "erythrocyte", - "subdivision of oviduct", - "absent anatomical entity in the head", - "absent external ear", - "Anotia", - "absent external ear in the head", - "abnormal biological_process in nervous system", - "absent anatomical entity in the ear", - "decreased embryo development", - "changed embryo development rate", - "multicellular organism development", - "abnormal genitourinary system", - "changed developmental process rate", - "decreased qualitatively developmental process", - "decreased developmental process", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Intrauterine growth retardation", - "Hypoplastic male external genitalia", - "anatomical structure development", - "abnormal embryo development", - "aplastic forelimb zeugopod bone", - "Aplasia/Hypoplasia of the radius", - "Aplasia involving bones of the extremities", - "Aplasia/Hypoplasia of the cerebellum", - "forelimb zeugopod", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "limb long bone", - "Aplasia/hypoplasia involving forearm bones", - "embryo development", - "abnormal radius bone morphology", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormality of the female genitalia", - "abnormal forelimb zeugopod morphology", - "arm bone", - "forelimb long bone", - "forelimb zeugopod skeleton", - "delayed biological_process in central nervous system", - "Abnormal forearm bone morphology", - "absent forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", - "zeugopod", - "Abnormality of the genital system", - "intramembranous bone", - "Renal hypoplasia", - "mandible hypoplasia", - "bone of lower jaw", - "neural crest-derived structure", - "dentary", - "aplasia or hypoplasia of skull", - "abnormal mouth", - "primary subdivision of skull", - "abnormal hematopoietic cell morphology", - "primary subdivision of cranial skeletal system", - "Micrognathia", - "abnormal male reproductive system", - "abnormal mouth morphology", - "cranial skeletal system", - "dermal bone", - "jaw skeleton", - "facial skeleton", - "immune system", - "facial bone", - "mandible", - "Abnormal mandible morphology", - "paired limb/fin segment", - "multi-limb segment region", - "Anemia", - "radius bone", - "Abnormality of the hand", - "decreased size of the external ear", - "agenesis of anatomical entity", - "paired limb/fin", - "skeleton of lower jaw", - "abnormal digit morphology", - "Aplasia/Hypoplasia of fingers", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "cell development", - "skeleton of manus", - "Hypertelorism", - "pectoral appendage skeleton", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "negative regulation of macromolecule biosynthetic process", - "abnormal arm", - "head", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal nose", - "Aplasia/Hypoplasia of the mandible", - "aplastic anatomical entity", - "anterior region of body", - "appendage", - "subdivision of organism along appendicular axis", - "autopod region", - "digit 1", - "Hyperactivity", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "sensory system", - "ear", - "anatomical entity hypoplasia in face", - "non-connected functional system", - "manual digit", - "Abnormal eye morphology", - "abnormal head morphology", - "Abnormality of the outer ear", - "multi-tissue structure", - "bodily fluid", - "abnormal external nose morphology", - "absent radius bone in the independent continuant", - "neck bone", - "entire sense organ system", - "continuant", - "orbital region", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormal tracheobronchial morphology", - "Aplasia/hypoplasia of the extremities", - "Hypoplastic facial bones", - "forelimb bone", - "anatomical entity hypoplasia", - "Abnormality of brain morphology", - "abnormal size of anatomical entity", - "Abnormality of the vertebral column", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "trunk", - "Macule", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "postcranial axial skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "cervical vertebra", - "jaw region", - "abnormal head", - "endochondral bone", - "subdivision of skeleton", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "dorsal part of neck", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "Aplasia/Hypoplasia of the ear", - "external ear", - "abnormal neck morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "vertebral column", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "paired limb/fin skeleton", - "skeleton of limb", - "Delayed myelination", - "Abnormality of skin pigmentation", - "shape nose tip", - "Abnormality of globe location", - "Aplasia/Hypoplasia involving the central nervous system", - "Short neck", - "skeleton", - "cervical vertebra endochondral element", - "decreased length of neck", - "Abnormality of head or neck", - "bone of dorsum", - "external soft tissue zone", - "digit plus metapodial segment", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal bone marrow cell morphology", - "bone of free limb or fin", - "bone element", - "Abnormality of the eye", - "abnormal pes morphology", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "decreased size of the anatomical entity in the independent continuant", - "system", - "abnormal female reproductive system morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "neurogenesis", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "skeletal element", - "nucleic acid metabolic process", - "Abnormal myeloid cell morphology", - "leg", - "process", - "Abnormality of the ear", - "eyelid", - "Renal agenesis", - "abnormal respiratory system", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "entity", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "biological_process", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "Abnormal neck morphology", - "negative regulation of gene expression", - "response to stimulus", - "flattened anatomical entity", - "bone element hypoplasia in face", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "vestibulo-auditory system", - "protein-DNA complex organization", - "Abnormal anus morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "cell differentiation", - "appendicular skeletal system", - "Eukaryota", - "negative regulation of cellular metabolic process", - "cervical region", - "dorsum", - "Abnormal nasal bridge morphology", - "erythroid lineage cell", - "non-material anatomical boundary", - "postcranial axial skeletal system", - "organelle organization", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of the gastrointestinal tract", - "quality", - "aplasia or hypoplasia of ear", - "absent external ear in the independent continuant", - "regulation of cellular biosynthetic process", - "proximo-distal subdivision of respiratory tract", - "behavior process", - "absent anatomical entity in the reproductive system", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "lateral structure", - "regulation of biological process", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal DNA metabolic process", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Depressed nasal tip", - "Abnormality of mental function", - "abnormal cellular process", - "nasal bridge", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "Webbed neck", - "Talipes", - "cellular metabolic process", - "Atypical behavior", - "simple eye", - "cellular component organization", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "midface", - "abnormal cellular component organization", - "abnormal trachea morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "negative regulation of biological process", - "absent digit", - "glial cell development", - "anatomical space", - "Abnormal hindbrain morphology", - "phenotype", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal face", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormal respiratory system morphology", - "cervical region of vertebral column", - "aplasia or hypoplasia of external ear", - "pes", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "obsolete nitrogen compound metabolic process", - "lower jaw region", - "abnormal digit", - "thoracic segment of trunk", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "metabolic process", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "Abnormality of the palpebral fissures", - "pelvic region element", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "secondary palate", - "organism", - "irregular bone", - "Chromosome breakage", - "abnormal chromatin organization", - "Abnormal cellular phenotype", - "curvature anatomical entity in independent continuant", - "negative regulation of cellular process", - "abnormal limb", - "Abnormality of digestive system morphology", - "radius endochondral element", - "abnormal behavior", - "Abnormal sacrum morphology", - "aplastic manual digit 1", - "membrane bone", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", - "independent continuant", - "Microtia", - "Abnormality of the neck", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "ensheathment of neurons", - "regulation of cellular process", - "manus", - "abnormal eyelid morphology", - "cellular process", - "Abnormal digit morphology", - "neck", - "abnormal central nervous system myelination", - "organ subunit", - "negative regulation of cellular biosynthetic process", - "forelimb zeugopod bone", - "nervous system", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "abnormal anatomical entity", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "anatomical system", - "upper digestive tract", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "orifice", - "multicellular organism", - "regulation of macromolecule biosynthetic process", - "female reproductive organ", - "long bone", - "material entity", - "negative regulation of biosynthetic process", - "decreased size of the penis", - "Abnormality of the lower limb", - "endochondral element", - "abnormal neck", - "abnormal brain ventricle morphology", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal behavior process", - "abnormal ear morphology", - "cellular organisms", - "Decreased anatomical entity position", - "increased size of the anatomical entity", - "limb", - "main body axis", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "axial skeletal system", - "Growth abnormality", - "skeletal system", - "decreased size of the cerebellum", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "subdivision of vertebral column", - "absent manual digit", - "abnormal development of anatomical entity", - "Abnormal thumb morphology", - "subdivision of trunk", - "axon ensheathment in central nervous system", - "eye", - "compound organ", - "decreased qualitatively biological_process", - "anatomical entity", - "digit", - "Unilateral renal agenesis", - "Abnormal cerebellum morphology", - "upper limb segment", - "appendicular skeleton", - "Abnormal skeletal morphology", - "forelimb", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "abnormal primary metabolic process", - "body proper", - "abnormal opening of the anatomical entity", - "dorsal region element", - "chromatin organization", - "Reduced impulse control", - "abnormal location of external ear", - "abnormal nervous system", - "Attention deficit hyperactivity disorder", - "abnormal leg", - "craniocervical region", - "posterior region of body", - "Cleft palate", - "behavior", - "Abnormal appendicular skeleton morphology", - "Abnormal forearm morphology", - "vertebra", - "decreased length of anatomical entity in independent continuant", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal vertebral column", - "subdivision of head", - "appendage girdle complex", - "dermal skeletal element", - "subdivision of organism along main body axis", - "developmental process", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abdominal segment bone", - "abnormal facial skeleton morphology", - "material anatomical entity", - "trachea", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "abnormal skeletal system morphology", - "protein-containing material entity", - "segment of manus", - "Abnormality of the musculoskeletal system", - "organ system subdivision", - "Abnormality of the anus", - "shape anatomical entity", - "ventricular system of brain", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of digestive system physiology", - "absent anatomical entity", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal palate morphology", - "skeleton of pectoral complex", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "absent anatomical entity in the limb", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "dermal skeleton", - "aplasia or hypoplasia of manual digit 1", - "anatomical conduit", - "abnormal limb morphology", - "abdomen", - "manual digit 1 plus metapodial segment", - "trunk bone", - "bone of appendage girdle complex", - "anatomical wall", - "arm", - "mesoderm-derived structure", - "Abnormal facial skeleton morphology", - "autopodial skeleton", - "forelimb skeleton", - "delayed biological_process in independent continuant", - "digitopodium region", - "abnormal growth", - "pelvic complex", - "acropodium region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the manus", - "Finger aplasia", - "macromolecule metabolic process", - "pelvic region of trunk", - "palpebral fissure", - "fused sacrum hypoplasia", - "nucleobase-containing compound metabolic process", - "Short attention span", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal internal genitalia", + "UBERON:0004756", + "UPHENO:0002772", + "UPHENO:0025961", + "UPHENO:0088116", + "UPHENO:0009391", + "UPHENO:0081788", + "UPHENO:0026940", + "HP:0008684", + "UPHENO:0002971", + "UPHENO:0080325", + "UPHENO:0006161", + "UPHENO:0002815", + "UPHENO:0081091", + "UBERON:0010758", + "UPHENO:0002994", + "UBERON:0003129", + "HP:0000315", + "UBERON:0010313", + "CL:0000081", + "UBERON:0012360", + "UBERON:0007375", + "UPHENO:0081314", + "HP:0011821", + "HP:0009118", + "HP:0000347", + "HP:0031816", + "HP:0000929", + "UPHENO:0025708", + "HP:0000736", + "UPHENO:0026023", + "UPHENO:0011563", + "HP:0009823", + "UPHENO:0026098", + "HP:0008518", + "UPHENO:0002738", + "UPHENO:0025845", + "UPHENO:0011573", + "UBERON:0004176", + "UBERON:0001423", + "UPHENO:0009209", + "UPHENO:0009295", + "UPHENO:0008703", + "UPHENO:0009356", + "UPHENO:0009021", + "UPHENO:0074231", + "UPHENO:0087472", + "UPHENO:0025176", + "HP:0003953", + "UBERON:0002390", + "UPHENO:0025195", + "UPHENO:0026073", + "UPHENO:0052160", + "UPHENO:0026082", + "HP:0000369", + "UPHENO:0026317", + "UPHENO:0086956", + "UPHENO:0025187", + "UBERON:0001442", + "UBERON:0000167", + "UBERON:0011159", + "UPHENO:0079872", + "UPHENO:0025508", + "UPHENO:0009341", + "UPHENO:0025570", + "UBERON:0002544", + "UBERON:0000060", + "UPHENO:0087585", + "UPHENO:0025166", + "UBERON:0013522", + "UPHENO:0006140", + "UBERON:0003466", + "UPHENO:0086699", + "UBERON:0010913", + "UPHENO:0009399", + "HP:0009822", + "HP:5201015", + "HP:0040070", + "UPHENO:0008709", + "UPHENO:0002977", + "UPHENO:0080099", + "UPHENO:0027020", + "UPHENO:0026312", + "UPHENO:0025776", + "UPHENO:0026407", + "UPHENO:0076800", + "UBERON:0002386", + "UPHENO:0009115", + "UPHENO:0002668", + "UBERON:0003606", + "UPHENO:0025811", + "UPHENO:0025882", + "UPHENO:0025136", + "UPHENO:0076718", + "HP:0003319", + "UPHENO:0009344", + "HP:0002032", + "UPHENO:0009010", + "UPHENO:0002887", + "HP:0008736", + "UPHENO:0008827", + "UPHENO:0011568", + "UPHENO:0026239", + "UPHENO:0075944", + "UPHENO:0027014", + "UBERON:0003126", + "UPHENO:0002967", + "UPHENO:0025652", + "UPHENO:0002637", + "HP:0009121", + "UBERON:0010741", + "UPHENO:0002523", + "UPHENO:0002685", + "UPHENO:0074229", + "UPHENO:0008604", + "HP:0009825", + "UPHENO:0026806", + "UPHENO:0008430", + "UPHENO:0002593", + "UPHENO:0033591", + "UBERON:0005181", + "HP:0006501", + "UPHENO:0011485", + "UBERON:0013701", + "HP:0011017", + "UPHENO:0025808", + "UPHENO:0026095", + "UPHENO:0002902", + "UPHENO:0076754", + "UPHENO:0025546", + "UPHENO:0026096", + "UBERON:0001895", + "UBERON:0002103", + "UPHENO:0025547", + "UBERON:0002037", + "UPHENO:0008640", + "HP:0003974", + "UPHENO:0049874", + "UPHENO:0026280", + "HP:0001167", + "HP:0001510", + "GO:0040007", + "UPHENO:0050034", + "CL:0001035", + "UPHENO:0005642", + "UPHENO:0052694", + "UPHENO:0050068", + "HP:0200006", + "UPHENO:0080382", + "HP:0001000", + "UPHENO:0080393", + "GO:0009790", + "UBERON:0012128", + "UPHENO:0002934", + "UPHENO:0053456", + "UPHENO:0075219", + "HP:0005105", + "UPHENO:0069161", + "UPHENO:0068914", + "UPHENO:0081320", + "UPHENO:0069064", + "HP:0000568", + "UPHENO:0080209", + "UPHENO:0011770", + "UPHENO:0026514", + "UPHENO:0026706", + "UPHENO:0002530", + "HP:0002715", + "UPHENO:0002875", + "UPHENO:0025777", + "UPHENO:0025666", + "UPHENO:0080662", + "UPHENO:0074228", + "UPHENO:0025234", + "UPHENO:0011739", + "HP:0000151", + "UPHENO:0027008", + "GO:0008150", + "UPHENO:0003055", + "UBERON:0000004", + "UBERON:0010740", + "UPHENO:0002642", + "HP:0010460", + "UPHENO:0026014", + "UPHENO:0026509", + "UPHENO:0051450", + "UPHENO:0003053", + "UBERON:0015001", + "UPHENO:0026152", + "UPHENO:0025875", + "UPHENO:0003086", + "UPHENO:0025243", + "UPHENO:0063586", + "HP:0000436", + "UPHENO:0050106", + "UPHENO:0009181", + "UPHENO:0080165", + "UPHENO:0087547", + "UBERON:0000995", + "UBERON:0003134", + "UPHENO:0011847", + "HP:0000130", + "UBERON:0005156", + "HP:0010938", + "UBERON:0003100", + "UPHENO:0005170", + "HP:0001263", + "HP:0003221", + "UPHENO:0063559", + "HP:0020047", + "HP:0011121", + "UBERON:0010000", + "UBERON:0010230", + "UPHENO:0074237", + "UPHENO:0063562", + "UPHENO:0050007", + "UPHENO:0074245", + "UPHENO:0072264", + "UPHENO:0002634", + "UPHENO:0081095", + "UPHENO:0063615", + "UPHENO:0001003", + "UPHENO:0063594", + "UPHENO:0002948", + "HP:0002589", + "UPHENO:0074310", + "UPHENO:0025497", + "UPHENO:0074232", + "UPHENO:0074311", + "UPHENO:0063574", + "HP:0031703", + "HP:0011968", + "UPHENO:0084763", + "UPHENO:0081099", + "UPHENO:0081601", + "NCBITaxon:1", + "UBERON:0000481", + "UPHENO:0011749", + "HP:0000957", + "NCBITaxon:6072", + "UPHENO:0003004", + "UBERON:0004732", + "UBERON:0004086", + "UPHENO:0076720", + "NCBITaxon:131567", + "UPHENO:0005573", + "NCBITaxon:33154", + "HP:0002977", + "UBERON:0005281", + "UPHENO:0080089", + "HP:0011283", + "HP:0008056", + "UBERON:0000063", + "UBERON:0002268", + "UPHENO:0006146", + "UPHENO:0002907", + "UPHENO:0003067", + "HP:0007360", + "HP:0003241", + "UPHENO:0025739", + "HP:0000366", + "UPHENO:0011531", + "UPHENO:0001134", + "UBERON:0008340", + "UBERON:0004089", + "UPHENO:0001303", + "GO:0032501", + "UPHENO:0006147", + "UBERON:0011676", + "HP:0000175", + "UPHENO:0074360", + "UBERON:0000464", + "UPHENO:0011533", + "UPHENO:0076786", + "UPHENO:0033565", + "UPHENO:0052855", + "UPHENO:0033560", + "UPHENO:0033599", + "UPHENO:0025883", + "UPHENO:0033635", + "UPHENO:0002654", + "UBERON:0002553", + "UBERON:0001709", + "UPHENO:0033589", + "UPHENO:0002838", + "CL:0000763", + "UPHENO:0052778", + "HP:0000202", + "UPHENO:0075655", + "HP:0000050", + "HP:0040072", + "UBERON:0004053", + "UBERON:0008811", + "UBERON:0000989", + "UPHENO:0014240", + "UPHENO:0081566", + "UPHENO:0003082", + "HP:0000054", + "UBERON:0005944", + "UBERON:0001716", + "UBERON:0000079", + "HP:0001871", + "UPHENO:0011566", + "UBERON:0006077", + "HP:0010461", + "UPHENO:0076727", + "UPHENO:0002697", + "HP:0001155", + "UBERON:0003101", + "HP:0000032", + "HP:0000119", + "HP:0005528", + "UPHENO:0004459", + "HP:0001903", + "UPHENO:0002693", + "HP:0005561", + "UBERON:0000479", + "HP:0025461", + "UPHENO:0087430", + "UPHENO:0081511", + "HP:0000437", + "UPHENO:0041203", + "CL:0000764", + "UBERON:0002405", + "NCBITaxon:2759", + "HP:0012130", + "CL:0000232", + "UPHENO:0054957", + "UPHENO:0074575", + "UBERON:0002416", + "UBERON:0002199", + "UBERON:0002097", + "HP:0001574", + "GO:0043473" + ], + "has_phenotype_closure_label": [ + "anus", + "anatomical conduit atresia", + "anus morphology phenotype", + "anus phenotype", + "ectoderm-derived structure atresia", + "orifice atresia", + "closing of the ectoderm-derived structure", + "Renal hypoplasia", + "kidney hypoplasia", + "upper urinary tract", + "absent multicellular anatomical structure in the renal system", + "upper urinary tract phenotype", + "absent compound organ", + "kidney morphology phenotype", + "Renal hypoplasia/aplasia", + "abdomen element phenotype", + "renal system", + "absent compound organ in the renal system", + "excretory system", + "number of anatomical enitites of type kidney phenotype", + "cavitated compound organ", + "absent organ in the renal system", + "absent abdominal segment element in the renal system", + "absent trunk region element in the renal system", + "absent lateral structure in the renal system", + "Abnormal anus morphology", + "compound organ phenotype", + "abdomen", + "absent cavitated compound organ", + "number of anatomical enitites of type cavitated compound organ phenotype", + "absent trunk region element in the multicellular organism", + "renal system phenotype", + "absent cavitated compound organ in the renal system", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "kidney phenotype", + "absent abdomen element", + "number of anatomical enitites of type compound organ phenotype", + "absent anatomical structure in the renal system", + "increased biological_process", + "increased pigmentation in skin of body", + "Irregular hyperpigmentation", + "kidney", + "bony pelvis", + "Abnormal sacrum morphology", + "aplastic manual digit 1", + "trunk region element phenotype", "aplasia or hypoplasia of vertebral column", - "abnormal fused sacrum morphology", - "skull", - "limb skeleton subdivision", - "Aplasia/Hypoplasia involving the vertebral column", - "abnormal craniocervical region", - "sacral region of vertebral column", - "Abnormal upper limb bone morphology", - "skin of body", - "reproductive system", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "manus morphology phenotype", "sacral region", + "reproductive system", + "sacral region of vertebral column phenotype", + "trachea", "Aplasia/Hypoplasia of the sacrum", - "Global developmental delay", - "biological regulation", - "abdominal segment of trunk", - "bony pelvis", - "bone element hypoplasia in independent continuant", - "abnormal penis morphology", - "hindlimb", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", - "abnormal cellular metabolic process", - "Hypoplastic sacrum", - "aplasia or hypoplasia of fused sacrum", - "Delayed CNS myelination", + "endoderm-derived structure", + "trunk region element", + "Abnormal pinna morphology", + "dorsal part of neck", + "lateral structure phenotype", + "shape of external ear phenotype", + "Abnormality of the nervous system", + "increased qualitatively biological_process", + "shape of continuant phenotype", + "ear morphology phenotype", + "Abnormality of the face", + "eyelid", + "appendage girdle complex", + "absent mesoderm-derived structure in the forelimb", + "Abnormality of the orbital region", + "roof of mouth", + "Slanting of the palpebral fissure", + "Aplasia/Hypoplasia of the external ear", + "absent uterus", + "Abnormal eyelid morphology", + "incomplete closing of the structure with developmental contribution from neural crest", + "ocular adnexa phenotype", + "metencephalon", + "face phenotype", + "Reduced attention regulation", + "head morphology phenotype", + "forelimb skeleton", + "absent organism subdivision in the head", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "orbital region", + "non-connected functional system", + "palpebral fissure phenotype", + "orifice phenotype", + "eyelid morphology phenotype", + "male reproductive organ", + "multi organ part structure phenotype", + "Abnormality of the head", + "increased length of the anatomical line between pupils", + "face morphology phenotype", + "negative regulation of cellular process", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "absent kidney", + "decreased social inhibition", + "immaterial entity", + "negative regulation of cellular biosynthetic process", + "organ subunit", + "homeostatic process", + "attention behavior", + "metabolic process", + "negative regulation of cellular metabolic process", + "Eukaryota", + "negative regulation of biological process phenotype", + "closing of the subdivision of digestive tract", + "Abnormal cellular phenotype", + "regulation of cellular process phenotype", + "regulation of metabolic process phenotype", + "tracheobronchial tree morphology phenotype", + "nose tip", + "zeugopod", + "absent material anatomical entity in the renal system", + "regulation of cellular metabolic process phenotype", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular process phenotype", + "limb morphology phenotype", + "biological regulation phenotype", + "pigmentation phenotype", + "autopodial extension", + "manual digit 1", + "decreased size of the ectoderm-derived structure", + "ear", + "regulation of cellular biosynthetic process phenotype", + "subdivision of digestive tract", + "digestive system", + "obsolete cell", + "anatomical entity morphology phenotype", + "central nervous system", + "Abnormality of limb bone", + "subdivision of organism along main body axis", + "dermal skeletal element", + "number of anatomical enitites of type organ part phenotype", + "external ear", + "structure with developmental contribution from neural crest phenotype", + "increased number of organ part", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "bone of craniocervical region", + "intromittent organ phenotype", + "alimentary part of gastrointestinal system morphology phenotype", + "eyeball of camera-type eye", + "hindbrain morphology phenotype", + "increased number of organ component layer in the cerebrospinal fluid", + "subdivision of head", + "increased number of ectoderm-derived structure", + "system", + "regulation of gene expression phenotype", + "subdivision of head phenotype", + "number of anatomical enitites of type skeletal element phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Hypertelorism", + "Morphological central nervous system abnormality", + "Absent radius", + "Abnormal skin morphology", + "subdivision of vertebral column phenotype", + "Abnormality of the outer ear", + "programmed DNA elimination by chromosome breakage phenotype", + "Abnormal tracheal morphology", + "bodily fluid", + "multi-tissue structure", + "increased number of ectoderm-derived structure in the cerebrospinal fluid", + "Abnormality of the digestive system", + "cerebrospinal fluid", + "organism substance", + "organ part phenotype", + "increased number of multicellular anatomical structure", "fused sacrum", - "Neoplasm", - "Tracheoesophageal fistula", - "Abnormal jaw morphology", - "abnormal ear", - "Low-set ears", - "abnormal esophagus morphology", - "penis", - "digestive system element", - "kidney", - "abnormal biological_process", - "Growth delay", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", - "organ part", + "increased number of anatomical structure", + "ventricle of nervous system phenotype", + "transudate", + "cerebellum phenotype", + "brain ventricle morphology phenotype", + "absent anatomical entity in the reproductive system", + "subdivision of tube", + "respiratory airway", + "incomplete closing of the roof of mouth", + "brain ventricle/choroid plexus phenotype", + "digestive system phenotype", + "respiratory system", "regulation of gene expression", "pectoral appendage", - "respiratory system", - "obsolete cell", - "programmed DNA elimination", - "digestive system", - "subdivision of tube", - "abnormal alimentary part of gastrointestinal system", - "oral cavity", - "Morphological abnormality of the gastrointestinal tract", + "absent bone of appendage girdle complex in the forelimb", + "absent skeletal element in the forelimb", + "increased number of material anatomical entity in the cerebrospinal fluid", + "digestive tract", + "camera-type eye morphology phenotype", + "pelvic region element phenotype", + "viscus", + "vertebral element", + "reproductive organ phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "Abnormality of the respiratory system", "Abnormal respiratory system physiology", - "abnormal female reproductive organ morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "thoracic segment of trunk", + "compound organ", + "eye", + "axon ensheathment in central nervous system", + "Aplasia/Hypoplasia of the ear", + "Tracheoesophageal fistula", + "absent anatomical structure in the reproductive system", + "programmed DNA elimination", + "Abnormality of the gastrointestinal tract", + "Abnormal volitional state", + "ventricular system of brain", + "number of anatomical enitites of type organ component layer phenotype", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "manual digitopodium region", + "Abnormality of the male genitalia", + "external ear phenotype", + "Abnormality of blood and blood-forming tissues", + "visual system", + "lower respiratory tract", + "flat anatomical entity", + "alimentary part of gastrointestinal system phenotype", + "regulation of metabolic process", + "pectoral appendage skeleton", + "pes", + "absent trunk region element", + "intramembranous bone phenotype", + "skull phenotype", + "female reproductive system phenotype", + "orifice", + "upper digestive tract", + "anatomical system", + "increased number of brain ventricle/choroid plexus", + "membrane bone", + "bone of pectoral complex morphology phenotype", "tracheobronchial tree", - "trunk region element", - "Aplasia/Hypoplasia of the external ear", - "endoderm-derived structure", - "pelvic appendage", + "abdominal segment of trunk", + "Global developmental delay", + "organ atresia", + "alimentary part of gastrointestinal system", + "Aplasia/hypoplasia involving the skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "absent organ part", + "number of anatomical enitites of type anatomical entity phenotype", + "absent digit", + "Abnormal esophagus morphology", + "absent forelimb endochondral element", + "bone of appendage girdle complex phenotype", + "absent material anatomical entity in the limb", + "behavior process", + "limb bone phenotype", + "autopod region morphology phenotype", + "Abnormal hand morphology", + "Metazoa", + "absent limb endochondral element", + "Micropenis", + "Abnormality of limbs", + "Abnormal affect", + "organ part", + "number of anatomical enitites of type organism subdivision phenotype", + "head bone phenotype", + "cavitated compound organ phenotype", + "Abnormal ocular adnexa morphology", + "subdivision of organism along appendicular axis phenotype", + "jaw region", + "renal system morphology phenotype", + "Abnormality of the female genitalia", + "mesoderm-derived structure phenotype", + "pelvic region of trunk", + "palpebral fissure", + "pectoral complex", + "head", + "disconnected anatomical group", + "absent multicellular anatomical structure in the multicellular organism", + "internal genitalia phenotype", + "esophagus", + "sacral region of vertebral column", + "central nervous system development", + "hemolymphoid system", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "Abnormality of the kidney", + "orbital region phenotype", + "biological regulation", + "Abnormal penis morphology", + "anatomical collection phenotype", + "quality", + "aplasia or hypoplasia of external ear", + "decreased size of the sense organ", + "Abnormally increased volition", + "Abnormal renal morphology", + "radius endochondral element", + "dorsum", + "closing of the anatomical structure", + "cervical region", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "subdivision of organism along main body axis phenotype", + "cervical vertebra endochondral element phenotype", + "brain ventricle phenotype", + "material anatomical entity", + "skin of body morphology phenotype", + "decreased size of the organism subdivision", + "digit plus metapodial segment", + "external soft tissue zone", + "skeletal element phenotype", + "limb bone morphology phenotype", + "nervous system process", + "anatomical structure physiology phenotype", + "facial bone phenotype", + "bone element", + "aplasia or hypoplasia of cerebellum", + "anatomical structure", + "musculature of body", + "ear phenotype", + "decreased qualitatively biological_process", + "anatomical entity", + "main body axis", + "organism subdivision", + "absent endochondral element in the limb", + "decreased size of the anatomical structure", + "organ", + "vertebral element phenotype", + "vertebra", + "Abnormal forearm morphology", + "proximo-distal subdivision of respiratory tract", + "brain ventricle/choroid plexus", + "Short attention span", + "system process", + "external male genitalia hypoplasia", + "Abnormality of globe size", + "Hypoplastic sacrum", + "Aplasia/Hypoplasia of facial bones", + "increased number of anatomical structure in the cerebrospinal fluid", + "craniocervical region phenotype", + "abdominal segment bone", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "nervous system morphology phenotype", + "developmental process", + "cell phenotype", + "anatomical entity hypoplasia in face", + "opening of the anatomical entity", + "increased number of ventricle of nervous system in the cerebrospinal fluid", + "skeletal system morphology phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "manus", + "increased size of the immaterial anatomical entity", + "neck", + "absent anatomical structure", + "absent external ear", + "increased size of the ectoderm-derived structure", + "pelvic region element", + "material entity", + "negative regulation of biosynthetic process", + "long bone", + "ocular adnexa", + "female reproductive organ", + "Abnormality of head or neck", + "decreased biological_process", + "anatomical entity length phenotype", + "decreased length of material anatomical entity", + "delayed axon ensheathment in central nervous system", + "organ phenotype", + "absent bone of appendage girdle complex", + "increased number of organ component layer", + "anatomical system physiology phenotype", + "nervous system", + "head phenotype", + "forelimb zeugopod bone", + "aplastic anatomical entity", + "anterior region of body", + "appendicular skeleton", + "Abnormal cerebellum morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "absent anatomical entity in the forelimb", + "abdominal segment element phenotype", + "Finger aplasia", + "aplasia or hypoplasia of ear", + "independent continuant", + "anatomical line between pupils", + "number of anatomical enitites of type trunk region element phenotype", + "increased size of the non-material anatomical boundary", + "negative regulation of gene expression phenotype", + "segment of autopod", + "musculature phenotype", + "aplasia or hypoplasia of skull", + "sense organ", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "regulation of biosynthetic process phenotype", + "anatomical system phenotype", + "central nervous system morphology phenotype", + "cervical vertebra endochondral element", + "Abnormal limb bone morphology", + "decreased length of neck", + "postcranial axial skeleton", + "multicellular organism", + "skeleton", + "negative regulation of gene expression", + "vertebra phenotype", + "upper jaw region", + "nervous system physiology phenotype", + "absent anatomical entity in the limb", + "number of anatomical enitites of type reproductive structure phenotype", + "organ system subdivision", + "closing of the multicellular anatomical structure", + "trunk", + "Abnormality of the vertebral column", + "irregular bone phenotype", + "digit 1 or 5 phenotype", "respiratory tube", - "abnormal nose tip morphology", - "alimentary part of gastrointestinal system atresia", "respiratory tract", - "forelimb endochondral element", - "primary metabolic process", - "Abnormality of the skin", - "abnormal bone marrow morphology", - "flat anatomical entity", - "lower respiratory tract", - "Abnormal esophagus morphology", - "abnormal tracheobronchial tree morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormality of respiratory system physiology", - "thoracic segment organ", - "digestive tract", - "Abnormal tracheal morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Abnormality of the respiratory system", - "central nervous system development", - "hemolymphoid system", - "esophagus", - "Abnormal location of ears", - "subdivision of digestive tract", - "delayed biological_process", - "Abnormality of the cervical spine", - "abnormal digestive system", - "tube", - "respiratory airway", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "abnormal nervous system morphology", - "Hydrocephalus", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", - "cerebrospinal fluid", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "bone of craniocervical region", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Positional foot deformity", + "alimentary part of gastrointestinal system atresia", + "organ system subdivision phenotype", + "regulation of biological process phenotype", + "absent multicellular anatomical structure", + "number of anatomical enitites of type endochondral element phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "vertebral column phenotype", + "autopodial extension phenotype", + "abdominal segment element", + "musculoskeletal system", + "Short neck", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "skeleton of limb", + "neck morphology phenotype", "Abnormality of the urinary system", - "abnormal anus morphology", - "organ component layer", - "Morphological central nervous system abnormality", - "Abnormal cell morphology", - "lower limb segment", - "abnormal brain morphology", - "aplasia or hypoplasia of cerebellum", - "abnormally increased number of anatomical entity in the independent continuant", - "organism substance", - "abnormally increased number of anatomical entity", - "external ear hypoplasia", - "abnormal brain ventricle/choroid plexus morphology", - "flat anatomical entity in independent continuant", - "mouth", - "abnormal mandible morphology", - "anatomical point", - "ventricle of nervous system", - "Abnormality of limb bone", - "central nervous system", + "closing of the subdivision of tube", + "subdivision of skeletal system", + "entity", + "dermatocranium", + "Abnormal axial skeleton morphology", + "trunk or cervical vertebra phenotype", + "absent endochondral bone in the forelimb", + "bone of dorsum phenotype", + "trunk or cervical vertebra", + "Recurrent maladaptive behavior", "ventricular system of central nervous system", - "abnormal central nervous system morphology", - "transudate", - "Cafe-au-lait spot", - "increased length of the anatomical entity", - "myelination", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "abnormal location of ear", - "abnormal ocular adnexa", - "abnormal anatomical entity topology in independent continuant", - "Decreased external ear position", - "external nose", - "changed biological_process rate", + "neck bone", + "regulation of cellular process", + "lower limb segment phenotype", + "absent forelimb long bone in the forelimb", + "Phenotypic abnormality", + "cervical vertebra", + "neck phenotype", + "increased number of anatomical entity", + "craniocervical region", + "axon ensheathment phenotype", + "neck bone phenotype", + "Anal atresia", + "anatomical conduit", + "multicellular anatomical structure phenotype", + "reproductive system phenotype", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "incomplete closing of the anatomical entity", + "nose tip phenotype", + "endochondral element phenotype", + "Abnormality of the neck", + "decreased behavior", + "Abnormal reproductive system morphology", + "delayed ensheathment of neurons", + "Abdominal symptom", + "dermal bone phenotype", + "phenotype", + "brain", + "glial cell development", + "anatomical space", + "cognitive behavior", + "decreased size of the multicellular anatomical structure", "increased biological_process in skin of body", - "abnormal external ear", - "increased biological_process", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "integumental system", - "integument", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", + "digit 1 or 5", + "bone of jaw", + "absent anatomical entity in the renal system", + "incomplete closing of the material anatomical entity", + "decreased length of multicellular anatomical structure", + "Chromosome breakage", + "paired limb/fin", + "Delayed myelination", + "number of anatomical enitites of type material anatomical entity phenotype", + "bone of jaw phenotype", + "Abnormality of skin pigmentation", + "size of anatomical entity phenotype", + "Abnormal brain morphology", + "skeleton of lower jaw", + "bone of free limb or fin phenotype", + "Attention deficit hyperactivity disorder", + "snout morphology phenotype", + "anatomical entity phenotype", + "mandible phenotype", + "axial skeletal system", + "Growth abnormality", + "number of anatomical enitites of type abdominal segment element phenotype", + "organism", + "secondary palate", + "vertebral column", + "thoracic cavity element", + "Abnormal nasal morphology", + "absent autopodial extension", + "decreased length of anatomical entity", + "bone of pectoral complex", + "nasal bridge", + "decreased length of organism subdivision", + "bone of lower jaw", + "simple eye", + "cervical vertebra phenotype", + "sensory system", + "endochondral element", + "anatomical entity hypoplasia", + "forelimb bone", + "decreased length of anatomical structure", + "agenesis of anatomical entity", + "All", + "nervous system phenotype", + "regulation of macromolecule metabolic process phenotype", + "Abnormality of the skin", + "biological_process rate phenotype", + "skeletal system", + "Abnormality of the ear", + "endochondral bone phenotype", + "Abnormal social development", + "cognition", + "uterus phenotype", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "face", + "aplasia or hypoplasia of manual digit", + "esophagus morphology phenotype", + "subdivision of organism along appendicular axis", + "craniofacial/craniocervical phenotype", + "absent anatomical structure in the multicellular organism", + "body proper", + "dorsal region element", + "taxon specific phenotype", + "skeletal element", + "Abnormality of the immune system", + "Absent thumb", + "bone of free limb or fin", + "Abnormal ear morphology", + "Abnormal finger morphology", + "absent organism subdivision in the multicellular organism", + "craniocervical region morphology phenotype", + "tube", + "increased number of ventricle of nervous system", + "aplasia or hypoplasia of skeleton", + "appendicular skeleton morphology phenotype", + "occurrent", + "multicellular organismal process phenotype", + "increased number of material anatomical entity", + "absent anatomical structure in the limb", + "decreased qualitatively multicellular organismal process", + "absent abdominal segment element", + "Unilateral renal agenesis", + "Abnormal thumb morphology", + "subdivision of trunk", + "digitopodium region", + "thoracic segment organ atresia", + "Aplasia/Hypoplasia of fingers", + "mouth morphology phenotype", + "genitourinary system phenotype", + "Abnormality of mental function", + "Depressed nasal tip", + "decreased multicellular organismal process", + "upper limb segment phenotype", + "Cognitive impairment", + "Webbed neck", + "absent material anatomical entity in the multicellular organism", + "Talipes", + "subdivision of vertebral column", + "absent manual digit", + "social inhibition", + "dorsal region element phenotype", + "material anatomical entity physiology phenotype", + "Abnormal digit morphology", + "material anatomical entity phenotype", + "Reduced social responsiveness", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "anatomical entity morphology in the manus phenotype", + "Abnormality of the nose", + "absent material anatomical entity in the forelimb", + "absent multicellular anatomical structure in the head", + "Abnormal neck morphology", + "protein-containing material entity", + "segment of manus", + "sense organ phenotype", + "anatomical conduit phenotype", + "axial skeleton plus cranial skeleton", + "neurogenesis", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "cerebellum morphology phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "Abnormality of the ocular adnexa", + "Opisthokonta", + "Abnormality of the hand", + "Anemia", + "absent multicellular anatomical structure in the forelimb", "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "abnormal hindlimb morphology", - "abnormal integument", - "brain ventricle", - "eyeball of camera-type eye", - "abnormal anus", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "Abnormal CNS myelination", - "immaterial anatomical entity", - "penis hypoplasia", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "forelimb morphology phenotype", + "absent skeletal element in the limb", + "digit", + "decreased qualitatively multicellular organism development", + "Aplasia/hypoplasia involving bones of the extremities", + "absent mesoderm-derived structure", + "paired limb/fin phenotype", + "Abnormal internal genitalia", + "autopod region phenotype", + "brain morphology phenotype", + "absent mesoderm-derived structure in the limb", + "abdomen element", + "homeostatic process phenotype", + "behavior", + "Renal agenesis", + "Cleft palate", + "Abnormal appendicular skeleton morphology", + "absent bone element in the forelimb", "limb endochondral element", - "Anal atresia", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "Abnormality of the face", - "increased length of the anatomical line between pupils", + "organ component layer", + "penis hypoplasia", + "autopodial skeleton", + "digit 1 phenotype", "multi organ part structure", - "roof of mouth", - "Abnormality of the orbital region", - "visual system", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormal ocular adnexa morphology", - "Abnormal eyelid morphology", - "absent uterus", - "ectoderm-derived structure", - "Slanting of the palpebral fissure", - "reproductive organ", - "abnormal skull morphology", - "anus atresia", - "abnormal palpebral fissure", - "abnormal face morphology", - "ocular adnexa", + "Abnormal facial skeleton morphology", + "closing of the anatomical conduit", + "developmental process rate phenotype", "camera-type eye", - "delayed growth", - "abnormal eyeball of camera-type eye", - "increased anatomical entity length in independent continuant", - "abnormal location of eyeball of camera-type eye", + "fused sacrum phenotype", + "trunk bone", + "manual digit 1 plus metapodial segment", + "lateral structure", + "increased number of organ part in the cerebrospinal fluid", + "Abnormality of the cervical spine", + "increased pigmentation", + "Abnormal skeletal morphology", + "external ear hypoplasia", + "axon ensheathment in central nervous system phenotype", + "number of anatomical enitites of type lateral structure phenotype", + "manual digit", + "arm", + "increased number of brain ventricle in the cerebrospinal fluid", + "anatomical wall", + "absent bone of free limb or fin", + "bone of appendage girdle complex", + "regulation of biological process", + "decreased multicellular organism development", + "Abnormality of the anus", + "digit 1 plus metapodial segment", + "cerebrospinal fluid morphology phenotype", + "respiratory system physiology phenotype", + "Abnormal nervous system physiology", + "paired limb/fin skeleton", + "esophagus phenotype", + "limb phenotype", + "skeleton phenotype", + "paired limb/fin segment", + "erythrocyte morphology phenotype", + "Abnormal bone marrow cell morphology", + "acropodium region", + "absent anatomical structure in the forelimb", + "multi-limb segment region", + "Abnormal social behavior", + "ventricle of nervous system", + "anatomical point", + "subdivision of digestive tract phenotype", + "number of anatomical enitites of type anatomical structure phenotype", + "skeleton of manus", + "cell development", + "manus phenotype", + "continuant", + "hindlimb", + "external ear morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "absent organism subdivision", + "digit 1", + "Hyperactivity", + "absent organ in the multicellular organism", + "mesoderm-derived structure", + "Aplasia/Hypoplasia of the thumb", + "cell", + "Abnormality of the mouth", + "limb", + "limb long bone morphology phenotype", + "absent subdivision of oviduct in the female reproductive system", + "increased size of the material anatomical entity", + "Abnormality of the upper limb", + "reproductive system morphology phenotype", + "endochondral bone", + "subdivision of skeleton", + "Abnormality of the skeletal system", + "bone of dorsum", + "sensation behavior", + "digit morphology phenotype", + "Aplasia/Hypoplasia involving the vertebral column", + "location of anatomical entity phenotype", + "skull", + "absent material anatomical entity in the skeletal system", + "limb endochondral element phenotype", + "ensheathment of neurons", + "increased length of the non-material anatomical boundary", + "fused sacrum hypoplasia", + "forelimb zeugopod morphology phenotype", + "trunk bone phenotype", + "penis", + "increased size of the anatomical line", + "number of anatomical enitites of type abdomen element phenotype", + "Abnormality of globe location", + "shape nose tip", + "non-material anatomical boundary", + "absent limb bone in the forelimb", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "increased length of the anatomical entity", + "Cafe-au-lait spot", "anatomical line", + "decreased qualitatively anatomical structure development", + "immaterial anatomical entity phenotype", + "non-material anatomical boundary phenotype", + "absent multicellular anatomical structure in the limb", + "Abnormality of the eye", + "increased length of the immaterial anatomical entity", + "subdivision of oviduct phenotype", + "ectoderm-derived structure phenotype", + "regulation of biosynthetic process", + "immaterial anatomical entity", + "Abnormal digestive system morphology", + "Abnormal CNS myelination", + "increased length of the anatomical line", + "viscus phenotype", + "regional part of nervous system", + "Abnormal midface morphology", + "location of eyeball of camera-type eye phenotype", + "anatomical line phenotype", + "organism subdivision phenotype", + "Hypoplastic facial bones", + "respiratory system phenotype", + "absent multicellular anatomical structure in the skeletal system", + "delayed biological_process", + "multicellular organism morphology phenotype", + "absent anatomical structure in the head", + "axon ensheathment", + "delayed myelination", + "glial cell differentiation", + "myelination", + "absent subdivision of tube in the female reproductive system", + "myelination phenotype", + "root", + "delayed central nervous system myelination", + "multicellular organism development", + "Hypoplastic male external genitalia", + "ensheathment of neurons phenotype", + "appendage", + "central nervous system myelination phenotype", + "skeletal system phenotype", + "Abnormal mandible morphology", + "anatomical structure development", + "oligodendrocyte development", + "absent anatomical entity", + "decreased size of the eyeball of camera-type eye", + "central nervous system myelination", + "bone of lower jaw phenotype", + "Abnormal myelination", + "cellular process", + "long bone morphology phenotype", + "delayed cellular process", + "dermal skeleton", + "phenotypic effect", + "female reproductive system", + "cellular process phenotype", + "limb segment", + "external genitalia phenotype", + "cellular developmental process", + "limb long bone phenotype", + "facial skeleton morphology phenotype", + "nervous system development", + "anatomical structure phenotype", + "decreased anatomical structure development", "Talipes equinovarus", - "absent kidney in the renal system", + "leg", + "Abnormality of the lower limb", "Hypermelanotic macule", - "Abnormal foot morphology", + "lower limb segment", + "Abnormal palate morphology", + "Abnormality of digestive system physiology", + "Abnormal cell morphology", + "leg phenotype", + "subdivision of skeletal system phenotype", + "incomplete closing of the secondary palate", + "integument", + "pelvic appendage", + "pes morphology phenotype", + "internal genitalia", + "Bilateral talipes equinovarus", "Aplasia/hypoplasia of the uterus", "Hyperpigmentation of the skin", - "Bilateral talipes equinovarus", + "Positional foot deformity", + "absent anatomical entity in the multicellular organism", + "Microphthalmia", + "pelvic complex", + "posterior region of body", + "hindlimb morphology phenotype", + "Decreased external ear position", + "Decreased anatomical entity position", + "cellular organisms", + "regulation of cellular metabolic process", + "arm phenotype", + "location of ear phenotype", + "skeleton of pectoral complex", + "specifically dependent continuant", + "Abnormal location of ears", + "Low-set ears", + "irregular bone", + "Abnormal jaw morphology", + "digestive system morphology phenotype", + "absent bone of pectoral complex in the limb", + "intramembranous bone", + "Abnormality of the genital system", + "mouth", + "Aplasia/Hypoplasia of the mandible", + "primary subdivision of cranial skeletal system", + "absent forelimb endochondral element in the limb", + "embryo development rate phenotype", + "Aplasia/Hypoplasia involving bones of the skull", + "absent radius endochondral element", "aplasia or hypoplasia of mandible", - "blood cell", + "facial bone hypoplasia", "Abnormality of the genitourinary system", - "head bone", - "Aplasia/Hypoplasia involving bones of the skull", - "cell", - "Abnormality of the mouth", - "anus", + "bone of craniocervical region phenotype", + "digestive system element phenotype", + "Abnormal eye morphology", + "head bone morphology phenotype", + "manual digit morphology in the manus phenotype", + "neural crest-derived structure phenotype", + "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", + "absent subdivision of head in the head", + "dentary phenotype", + "metencephalon morphology phenotype", + "regulation of macromolecule biosynthetic process", + "mandible", + "increased number of brain ventricle", + "facial bone", + "immune system", + "facial skeleton", + "absent abdomen element in the renal system", + "jaw skeleton", + "dermal bone", + "absent radius bone", + "cranial skeletal system", + "Wide nasal bridge", + "postcranial axial skeletal system", + "absent multicellular anatomical structure in the ear", + "primary subdivision of skull", + "thoracic segment organ phenotype", + "Micrognathia", + "bone element hypoplasia in face", + "flattened anatomical entity", + "neural crest-derived structure", + "dermal skeletal element phenotype", + "nasal bridge morphology phenotype", + "absent kidney in the renal system", + "subdivision of tube phenotype", + "Abnormality of the uterus", + "membrane bone phenotype", + "Abnormal oral morphology", + "absent arm bone in the forelimb", "Abnormal skull morphology", - "pectoral complex", - "dermatocranium", - "abnormal jaw skeleton morphology", - "facial bone hypoplasia", + "skull morphology phenotype", + "Delayed CNS myelination", + "oral cavity", + "organ component layer phenotype", + "behavior process phenotype", + "programmed DNA elimination by chromosome breakage", + "dentary", + "lower jaw region", + "Abnormal metencephalon morphology", + "absent skeletal element", + "Aplasia involving bones of the extremities", + "Aplasia involving forearm bones", + "absent forelimb bone in the forelimb", + "radius bone morphology phenotype", + "absent radius endochondral element in the forelimb", + "absent limb bone in the limb", + "aplastic forelimb zeugopod bone", + "zeugopodial skeleton", + "forelimb long bone", + "arm bone", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "mandible hypoplasia", + "Aplasia involving bones of the upper limbs", + "shape anatomical entity", + "absent forelimb zeugopod bone in the forelimb", + "forelimb endochondral element", + "increased width of material anatomical entity", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "Aplasia/Hypoplasia of the cerebellum", + "entire sense organ system", + "decreased rate of behavior process", + "absent bone of pectoral complex", + "absent subdivision of oviduct", + "regulation of cellular biosynthetic process", + "absent limb endochondral element in the forelimb", + "number of anatomical enitites of type endochondral bone phenotype", + "delayed axon ensheathment", + "number of anatomical enitites of type organ phenotype", + "closing of the organ part", + "absent forelimb endochondral element in the forelimb", + "closing of the thoracic segment organ", + "absent endochondral bone in the limb", + "autopod region", + "absent anatomical structure in the ear", + "cell differentiation", + "forelimb zeugopod bone morphology phenotype", + "tissue", + "absent anatomical structure in the skeletal system", + "trunk region element atresia", + "absent bone of free limb or fin in the forelimb", + "radius bone phenotype", + "forelimb long bone phenotype", + "number of anatomical enitites of type bone element phenotype", + "aplasia or hypoplasia of fused sacrum", + "absent limb long bone in the forelimb", + "absent forelimb bone in the limb", + "Abnormal morphology of the radius", + "absent bone element", + "absent forelimb bone", + "absent endochondral element in the forelimb", + "decreased size of the organ", + "absent organ", + "absent bone of appendage girdle complex in the limb", + "hindbrain", + "decreased size of the material anatomical entity", + "Absent forearm bone", + "oviduct", + "forelimb bone phenotype", + "absent limb bone", + "Aplasia/Hypoplasia of the radius", + "absent organ in the limb", + "behavior phenotype", "segmental subdivision of hindbrain", - "digit 1 or 5", - "bone of jaw" + "absent endochondral element", + "absent organ in the forelimb", + "arm bone phenotype", + "Abnormal hindbrain morphology", + "delayed growth", + "negative regulation of macromolecule metabolic process", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "thoracic cavity element atresia", + "skin of body", + "absent endochondral bone", + "bone of pectoral complex phenotype", + "absent radius bone in the forelimb", + "Disinhibition", + "Abnormal forearm bone morphology", + "absent long bone", + "absent bone of pectoral complex in the forelimb", + "digestive system element", + "Orofacial cleft", + "absent arm bone", + "reproductive organ", + "multi-limb segment region phenotype", + "olfactory organ phenotype", + "absent bone element in the limb", + "absent material anatomical entity in the ear", + "Aplasia/hypoplasia involving forearm bones", + "long bone phenotype", + "integument phenotype", + "vision/eye phenotype", + "secondary palate morphology phenotype", + "absent forelimb zeugopod bone", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "Growth delay", + "radius bone", + "growth phenotype", + "embryo development phenotype", + "Abnormal tracheobronchial morphology", + "embryo development", + "decreased qualitatively developmental process", + "Intrauterine growth retardation", + "multicellular organism development phenotype", + "developmental process phenotype", + "anatomical structure development phenotype", + "decreased embryo development", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", + "size of eyeball of camera-type eye phenotype", + "Abnormal gastrointestinal tract morphology", + "Aplasia/Hypoplasia affecting the eye", + "absent uterus in the female reproductive system", + "absent material anatomical entity in the head", + "absent lateral structure", + "abdominal segment bone phenotype", + "increased size of the anatomical entity", + "absent lateral structure in the head", + "limb skeleton subdivision", + "absent anatomical entity in the ear", + "Anotia", + "aplasia or hypoplasia of manual digit 1", + "absent subdivision of head", + "male reproductive system", + "absent anatomical entity in the head", + "incomplete closing of the multi-tissue structure", + "female reproductive system morphology phenotype", + "internal female genitalia", + "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid", + "closing of the material anatomical entity", + "upper limb segment", + "biological_process phenotype", + "biological_process", + "bone marrow cell", + "absent limb endochondral element in the limb", + "absent anatomical structure in the female reproductive system", + "forelimb", + "Aplasia of the uterus", + "absent organ part in the female reproductive system", + "absent subdivision of tube", + "hematopoietic system phenotype", + "reproductive structure phenotype", + "female reproductive organ morphology phenotype", + "absent material anatomical entity in the female reproductive system", + "system development", + "absent reproductive structure", + "appendage phenotype", + "number of anatomical enitites of type subdivision of tube phenotype", + "blood cell", + "aplasia or hypoplasia of uterus", + "absent material anatomical entity in the reproductive system", + "limb bone", + "subdivision of oviduct", + "subdivision of tube atresia", + "absent limb long bone", + "internal female genitalia morphology phenotype", + "absent multicellular anatomical structure in the reproductive system", + "Abnormal myeloid cell morphology", + "absent bone of free limb or fin in the limb", + "segmental subdivision of nervous system", + "genitourinary system", + "absent reproductive structure in the reproductive system", + "reproductive structure", + "female organism", + "absent anatomical entity in the female reproductive system", + "multicellular organismal process", + "absent reproductive structure in the female reproductive system", + "Abnormal morphology of female internal genitalia", + "location of external ear phenotype", + "decreased qualitatively behavior", + "absent multicellular anatomical structure in the female reproductive system", + "Neurodevelopmental abnormality", + "Neurodevelopmental delay", + "closing of the organ", + "closing of the trunk region element", + "closing of the anatomical system", + "closing of the anatomical entity", + "mandible morphology phenotype", + "esophagus atresia", + "organ part atresia", + "anatomical structure atresia", + "anatomical entity atresia", + "process", + "gliogenesis", + "Gastrointestinal atresia", + "subdivision of digestive tract atresia", + "Esophageal atresia", + "anatomical system atresia", + "thoracic cavity element phenotype", + "jaw skeleton morphology phenotype", + "multicellular anatomical structure atresia", + "material anatomical entity atresia", + "digestive system physiology phenotype", + "anatomical point phenotype", + "Feeding difficulties", + "Microtia", + "regional part of brain phenotype", + "Eumetazoa", + "increased number of anatomical entity in the cerebrospinal fluid", + "cerebellum hypoplasia", + "brain ventricle", + "regional part of nervous system phenotype", + "Abnormal nervous system morphology", + "cerebellum", + "external genitalia", + "regional part of brain", + "midface morphology phenotype", + "incomplete closing of the ectoderm-derived structure", + "eyeball of camera-type eye phenotype", + "increased size of the anatomical structure", + "increased number of multicellular anatomical structure in the cerebrospinal fluid", + "midface", + "head bone", + "nasal bridge phenotype", + "bone cell", + "nose morphology phenotype", + "vestibulo-auditory system", + "bone element phenotype", + "male reproductive system phenotype", + "olfactory organ", + "increased width of anatomical entity", + "nose", + "Abnormality of the palpebral fissures", + "decreased developmental process", + "snout", + "decreased qualitatively embryo development", + "increased width of ectoderm-derived structure", + "anatomical collection", + "Macule", + "regulation of macromolecule metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "digestive system element atresia", + "increased width of nasal bridge", + "increased width of anatomical structure", + "nose phenotype", + "Abnormal cerebrospinal fluid morphology", + "negative regulation of biological process", + "incomplete closing of the neural crest-derived structure", + "oral cavity morphology phenotype", + "Craniofacial cleft", + "roof of mouth morphology phenotype", + "anatomical cavity", + "Abnormal oral cavity morphology", + "incomplete closing of the anatomical structure", + "Hydrocephalus", + "incomplete closing of the multicellular anatomical structure", + "penis phenotype", + "absent external ear in the head", + "Abnormal male external genitalia morphology", + "brain ventricle/choroid plexus morphology phenotype", + "external male genitalia", + "respiratory system morphology phenotype", + "intromittent organ", + "Abnormal foot morphology", + "External genital hypoplasia", + "male organism", + "social behavior", + "forelimb zeugopod skeleton", + "male reproductive organ phenotype", + "external male genitalia phenotype", + "Cerebellar hypoplasia", + "Hypoplasia of penis", + "Abnormal external genitalia", + "multicellular anatomical structure", + "hematopoietic system", + "anus atresia", + "bone marrow", + "mouth phenotype", + "digit phenotype", + "immune system phenotype", + "Bone marrow hypocellularity", + "Abnormal external nose morphology", + "flat nose tip", + "curvature anatomical entity", + "external nose", + "nose tip morphology phenotype", + "oligodendrocyte differentiation", + "Abnormal nasal tip morphology", + "anatomical entity physiology phenotype", + "erythrocyte", + "external nose morphology phenotype", + "manual digit phenotype", + "oxygen accumulating cell", + "limb segment phenotype", + "erythroid lineage cell morphology phenotype", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "hematopoietic cell", + "Abnormality of the integument", + "integumental system", + "musculature", + "Localized skin lesion", + "pigmentation", + "ectoderm-derived structure", + "skin of body phenotype" ], "has_phenotype_count": 36, "highlight": null, @@ -3593,6 +4491,7 @@ "xref": [ "DOID:0111084", "GARD:15324", + "MEDGEN:463628", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739" @@ -3618,13 +4517,11 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", "HP:0001875", "HP:0009777", "HP:0001249", + "HP:0000086", "HP:0000252", - "HP:0001627", - "HP:0000957", "HP:0000815", "HP:0000104", "HP:0001017", @@ -3640,7 +4537,9 @@ "HP:0003221", "HP:0009943", "HP:0000978", + "HP:0001627", "HP:0000953", + "HP:0000957", "HP:0001903", "HP:0001909", "HP:0000081", @@ -3652,13 +4551,11 @@ "HP:0000085" ], "has_phenotype_label": [ - "Ectopic kidney", "Neutropenia", "Absent thumb", "Intellectual disability", + "Ectopic kidney", "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", "Hypergonadotropic hypogonadism", "Renal agenesis", "Anemic pallor", @@ -3674,7 +4571,9 @@ "Chromosomal breakage induced by crosslinking agents", "Complete duplication of thumb phalanx", "Bruising susceptibility", + "Abnormal heart morphology", "Hyperpigmentation of the skin", + "Cafe-au-lait spot", "Anemia", "Leukemia", "Duplicated collecting system", @@ -3685,106 +4584,142 @@ "Deficient excision of UV-induced pyrimidine dimers in DNA", "Horseshoe kidney" ], - "has_phenotype_closure": [ - "HP:0000085", - "UPHENO:0041465", - "UPHENO:0082444", + "has_phenotype_closure": [ "UPHENO:0041226", - "UPHENO:0082129", + "UPHENO:0041465", "UPHENO:0041629", - "GO:0051716", - "GO:0006950", - "HP:0003213", "UPHENO:0051124", - "HP:0003254", + "GO:0046483", + "UPHENO:0050116", + "UPHENO:0049586", "UPHENO:0049964", - "GO:0007049", + "GO:0044238", + "GO:0006950", + "GO:0051716", + "HP:0003213", + "UPHENO:0050121", "GO:0051319", - "UPHENO:0050625", - "HP:0000364", + "GO:0007049", + "HP:0003214", + "UPHENO:0052160", + "UPHENO:0050620", "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", + "GO:0009987", + "HP:0000365", + "UPHENO:0005596", "UBERON:0002105", "UPHENO:0041075", "GO:0007600", - "GO:0007610", - "HP:0000708", + "UPHENO:0052159", + "UPHENO:0052970", + "UPHENO:0050625", + "UPHENO:0049699", + "UPHENO:0049703", + "GO:0006807", + "HP:0031704", + "UPHENO:0049989", + "UPHENO:0005512", + "GO:0050954", + "UPHENO:0005518", + "UPHENO:0050106", "HP:0000549", - "HP:0000486", - "UPHENO:0049622", + "HP:0000708", "NBO:0000444", - "HP:0000496", - "UBERON:0010222", - "UPHENO:0080585", - "UBERON:0006800", - "BFO:0000141", + "UPHENO:0002219", + "NBO:0000338", "UPHENO:0079828", + "GO:0007610", + "UPHENO:0002211", + "HP:0000496", "HP:0011018", "UBERON:0000015", - "GO:0050896", - "UPHENO:0049586", - "NBO:0000338", - "UBERON:0000466", - "UPHENO:0081424", - "UPHENO:0080351", + "UBERON:0010222", + "BFO:0000141", + "HP:0000486", "UPHENO:0000543", - "UPHENO:0081423", + "HP:0001510", + "HP:0004322", + "UPHENO:0080351", "UPHENO:0075159", - "HP:0000081", "UPHENO:0075787", - "HP:0002664", - "HP:0011793", + "UPHENO:3000003", "HP:0001909", - "HP:0004377", + "HP:0002664", + "UPHENO:0054970", + "GO:0043473", + "UPHENO:0050234", + "UPHENO:0080662", + "UPHENO:0054957", + "UBERON:0000948", + "HP:0001627", + "HP:0030680", + "UPHENO:0050019", + "UBERON:0005181", + "UBERON:0005178", "HP:0002597", - "HP:0001892", - "HP:0011029", - "UPHENO:0002678", - "UBERON:0000477", - "HP:0000978", - "UPHENO:0051097", "HP:0001933", + "GO:0071704", + "MPATH:105", + "UPHENO:0002678", "UBERON:0007798", - "GO:0003013", - "GO:0008015", - "HP:0009943", + "MPATH:603", + "MPATH:119", + "GO:0006139", + "HP:0011354", + "UBERON:0000477", + "HP:0001626", + "UBERON:0001009", + "MPATH:0", + "HP:0001892", + "MPATH:1000", + "UBERON:0015063", + "UBERON:5106048", + "UBERON:5102389", + "UBERON:0010688", + "UBERON:0011818", "HP:0011314", - "HP:0009602", - "UPHENO:0087369", - "HP:0009942", - "UBERON:0003221", - "UBERON:0012357", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0021800", - "UPHENO:0084447", - "GO:0022403", - "UBERON:0004249", - "UBERON:5106048", - "UBERON:5102389", - "UBERON:0010688", + "GO:0090304", + "UBERON:0012150", + "HP:0009942", + "HP:0009943", + "UBERON:0003221", + "UBERON:0012357", "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0080581", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0000541", - "UBERON:0001436", - "GO:0010468", + "UPHENO:0049757", + "UPHENO:0049775", + "UPHENO:0050784", + "HP:0009602", + "UPHENO:0050126", + "HP:0001939", "NBO:0000313", "GO:0010558", "GO:0031327", - "GO:0006325", - "UPHENO:0049700", + "UBERON:0000915", + "UPHENO:0050065", + "UPHENO:0049904", + "GO:0050794", + "GO:0019222", + "GO:0008152", + "GO:0051325", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UPHENO:0050025", + "UPHENO:0049622", + "UPHENO:0050435", + "UBERON:0000466", + "UPHENO:0049868", + "GO:0042592", + "UPHENO:0049743", + "UPHENO:0050063", + "UBERON:0002075", + "GO:0031049", + "GO:0031052", "GO:0010556", "GO:0031326", "GO:0009890", @@ -3792,1464 +4727,1747 @@ "UBERON:0005897", "GO:0010605", "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0008152", - "HP:0000365", - "GO:0009987", "GO:0050789", - "GO:0044238", - "HP:0031704", - "GO:0006807", - "GO:0071704", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", - "HP:0001939", - "UPHENO:0050845", + "HP:0003221", + "GO:0010629", + "UPHENO:0050040", + "UPHENO:0050778", "HP:0001263", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", "UPHENO:0082794", + "UPHENO:0010799", "GO:0040007", - "UPHENO:0049874", - "UPHENO:0010763", + "UPHENO:0010850", + "UPHENO:0054374", "UBERON:0010543", "HP:0001507", - "UPHENO:0054299", - "UBERON:0000047", - "HP:0000568", - "UPHENO:0075219", + "UPHENO:0054304", + "UPHENO:0010808", + "GO:0006974", + "HP:0004323", + "UPHENO:0049874", + "UBERON:0010230", + "UPHENO:0049642", + "UBERON:0001456", "UBERON:0004088", "UBERON:0004456", + "UBERON:0000019", + "HP:0000568", + "HP:0000315", "UPHENO:0069523", - "UPHENO:0080209", - "GO:0033554", - "UBERON:0000970", - "UBERON:0001456", + "HP:0008056", + "HP:0011793", + "UPHENO:0002928", "UPHENO:0087924", - "HP:0100887", "HP:0000478", + "UPHENO:0002866", + "HP:0100887", "UPHENO:0002910", - "UPHENO:0020041", - "HP:0000271", - "HP:0011025", - "HP:0000315", - "UPHENO:0087472", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", - "UBERON:0000020", - "HP:0004312", + "GO:0033554", + "UBERON:0000970", + "HP:0000978", + "UPHENO:3000007", + "UPHENO:0069161", + "UPHENO:0075219", "HP:0001896", + "UPHENO:0052178", + "UPHENO:0005517", + "UPHENO:0085263", "UPHENO:0086002", + "UPHENO:0088148", + "HP:0001877", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "HP:0004312", "UPHENO:0049588", "CL:0000558", + "UPHENO:0046411", + "UPHENO:0046445", + "UPHENO:0069236", + "UPHENO:0012312", + "UPHENO:0069327", + "GO:0006259", + "UPHENO:0046426", + "GO:0050896", + "UPHENO:0046483", + "HP:0009778", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010468", + "UPHENO:0012440", + "UPHENO:0074575", + "UPHENO:0046707", + "UPHENO:0069605", + "UPHENO:0002403", + "HP:0009381", + "UPHENO:0069674", + "UPHENO:0069266", + "UPHENO:0069684", "UPHENO:0046505", + "UPHENO:0046552", + "UPHENO:0046528", + "HP:0003974", + "UPHENO:0025547", + "UPHENO:0025883", + "UPHENO:0026096", + "GO:0022403", + "UBERON:0004249", + "UPHENO:0025546", + "UPHENO:0076754", + "UPHENO:0026095", + "UPHENO:0025808", + "HP:0006501", + "UPHENO:0008430", + "UPHENO:0026806", + "UPHENO:0008604", + "UBERON:0015021", + "UPHENO:0025652", + "HP:0003220", + "UPHENO:0026811", + "UPHENO:0002967", + "UPHENO:0009337", + "UPHENO:0008475", + "UPHENO:0075944", "UPHENO:0088186", - "HP:0009381", - "UPHENO:0002433", - "CL:0000233", - "UPHENO:0026506", - "UBERON:0015061", + "UPHENO:0025852", + "HP:0001034", + "UPHENO:0011568", + "UPHENO:0076810", + "UPHENO:0004507", + "UPHENO:0025961", + 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"UPHENO:0075220", + "UBERON:0000047", + "UPHENO:0002385", + "UPHENO:0066945", + "UPHENO:0080126", + "UBERON:0015204", + "HP:0008373", + "UPHENO:0066903", "UPHENO:0003055", - "HP:0001876", - "HP:0000118", - "UPHENO:0024906", - "HP:0000078", - "HP:0011028", - "UBERON:0010712", - "HP:0000080", "UPHENO:0066972", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0002381", + "UPHENO:0081511", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0011566", + "UPHENO:0011770", + "UPHENO:0025587", + "UPHENO:0002308", + "GO:0043170", + "UPHENO:0025544", + "UPHENO:0026074", + "UPHENO:0011559", + "UPHENO:0002685", + "UPHENO:0008640", + "UPHENO:0066905", + "MPATH:120", + "UPHENO:0049620", "UBERON:0000990", + "UPHENO:0011739", "UPHENO:0003020", + "UPHENO:0046750", "UBERON:0005944", "UBERON:0000991", - "HP:0008373", - "UPHENO:0080126", - "UBERON:0015204", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0002386", + "UBERON:0000465", + "UPHENO:0002206", + "UPHENO:0063787", "HP:0000818", - "UBERON:0005156", - "UPHENO:0082875", + "UPHENO:0008825", + "HP:0004325", + "UPHENO:0026504", + "UPHENO:0026600", + "UBERON:0011143", + "UPHENO:0026507", + "NCBITaxon:131567", + "HP:0001017", + "UPHENO:0081423", + "UPHENO:0009011", "HP:0011355", + "UPHENO:0011492", + "UPHENO:0082875", "HP:0000104", + "UBERON:0010363", + "UPHENO:0008816", + "UPHENO:0085302", "UPHENO:0008593", "UPHENO:0026980", - "GO:1901360", - "HP:0000980", - "UBERON:0000061", - "UPHENO:0025211", - "HP:0025461", - "UPHENO:0009399", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "UPHENO:0087089", - "CL:0000764", + "UPHENO:0025661", + "UPHENO:0009010", + "UPHENO:0025631", + "UPHENO:0008827", + "UBERON:0003133", + "UBERON:5006048", + "UPHENO:0026308", + "BFO:0000001", + "UPHENO:0002635", + "UBERON:0004710", + "UPHENO:0002782", + "UPHENO:0088162", + "UPHENO:0054315", + "UBERON:0002416", + "UBERON:0002102", + "UPHENO:0003811", + "UPHENO:0081581", + "RO:0002577", + "HP:0000951", "UBERON:0001474", "CL:0000329", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", - "UPHENO:0086045", - "HP:0011875", - "UPHENO:0085042", - "HP:0012145", - "UPHENO:0087355", - "CL:0000457", - "UPHENO:0087339", - "CL:0000458", + "CL:0000764", + "HP:0001574", + "HP:0011121", + "UPHENO:0025497", "UBERON:0001690", "UBERON:0015410", + "UPHENO:0002736", "UPHENO:0086173", - "CL:0000151", - "UPHENO:0081755", - "UBERON:0002471", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", + "HP:0012145", + "UPHENO:0053647", + "UPHENO:0066902", + "UPHENO:0026098", + "HP:0011875", + "CL:0000458", "UPHENO:0084761", "HP:0001872", - "UBERON:0011584", - "UPHENO:0084987", - "UPHENO:0052231", - "HP:0000028", - "HP:0001510", - "UPHENO:0086023", - "HP:0004742", - "UBERON:0003620", - "HP:0012130", - "CL:0000300", - "UPHENO:0005597", - "CL:0000586", - "HP:0001627", - "UPHENO:0049970", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "GO:0003006", - "HP:0001000", - "UPHENO:0080382", - "UPHENO:0085356", - "GO:0019953", - "GO:0000003", - "HP:0001249", - "UBERON:0001968", - "GO:0048609", - "HP:0003953", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0041821", - "HP:0009825", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0015228", - "CL:0000015", - "HP:0008669", - "HP:0000811", - "UPHENO:0086201", - "UPHENO:0053298", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", + "CL:0000457", + "HP:0004275", + "UBERON:0010314", + "UPHENO:0053633", + "HP:0001873", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0000473", "UPHENO:0076941", "UPHENO:0002764", "UPHENO:0002597", - "CL:0000413", - "CL:0000039", - "UBERON:0011216", - "UBERON:0004175", - "UBERON:0004176", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0081511", - "UPHENO:0086635", - "HP:0000240", - "HP:0000812", - "UBERON:0015021", - "UBERON:0002386", - "UPHENO:0086198", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", + "HP:0000811", + "UPHENO:0002682", + "HP:0000035", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", + "UPHENO:0002940", + "HP:0001871", + "UBERON:0000079", + "UPHENO:0053610", + "UBERON:0004176", + "HP:0005918", + "HP:0012243", + "HP:0000032", "UPHENO:0079826", "UBERON:0004122", "UPHENO:0002595", - "UBERON:0015063", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0078452", - "HP:0005918", - "HP:0012243", - "UBERON:0013702", - "UPHENO:0080187", - "UBERON:0000955", - "UBERON:0010703", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0010912", - "CL:0000094", - "HP:0040072", - "UPHENO:0079872", - "UPHENO:0009341", + "HP:0009823", + "UPHENO:0010763", + "UPHENO:0025955", + "UPHENO:0025545", + "HP:0005927", + "UPHENO:0026486", + "UPHENO:0002738", + "UPHENO:0006894", "UBERON:0001423", + "UPHENO:0009295", + "HP:0003953", + "UPHENO:0026023", + "UPHENO:0011563", + "UPHENO:0002750", + "UPHENO:0026317", "UPHENO:0086956", - "HP:0040070", - "UBERON:0002405", - "UPHENO:0021561", - "UBERON:0003606", - "UPHENO:0005651", - "UPHENO:0076718", - "UBERON:0002104", - "HP:0006503", - "HP:0009142", + "UPHENO:0009341", + "UPHENO:0079872", "UBERON:0004535", - "UPHENO:0002751", + "HP:0009142", "UBERON:0002495", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "UBERON:0010741", + "UPHENO:0002751", + "UBERON:0013702", + "UPHENO:0080187", "UPHENO:0069254", "UBERON:0000949", "UBERON:0003466", - "UPHENO:0012541", - "HP:0004325", - "UPHENO:0031839", - "UPHENO:0046411", - "UBERON:0004381", - "UPHENO:0011498", - "UPHENO:0046624", - "UPHENO:0008668", - "UPHENO:0068971" + "HP:0040070", + "GO:0006725", + "UPHENO:0087501", + "HP:0004377", + "UPHENO:0008709", + "UPHENO:0002594", + "UPHENO:0086019", + "UPHENO:0026312" ], "has_phenotype_closure_label": [ - "Horseshoe kidney", - "shape anatomical entity", "3-D shape anatomical entity", - "U-shaped anatomical entity", - "abnormal response to stress", - "DNA repair", + "shape anatomical entity", + "Horseshoe kidney", "response to stress", - "abnormal cellular response to stress", - "abnormal DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Abnormality of the cell cycle", - "G2 phase", + "Abnormality of DNA repair", + "response to stimulus", + "DNA repair", + "DNA damage response phenotype", + "nucleobase-containing compound metabolic process phenotype", + "organic cyclic compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "metabolic process phenotype", + "macromolecule metabolic process phenotype", "cell cycle phase", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", + "Abnormality of the cell cycle", + "interphase", "ear", - "abnormal ear", + "sensory perception", + "decreased sensory perception", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "anatomical line", - "body part movement", + "decreased qualitatively system process", + "decreased qualitatively sensory perception of sound", + "sensory perception phenotype", + "ear physiology phenotype", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "decreased system process", + "Hearing impairment", + "sense organ physiology phenotype", + "nucleic acid metabolic process phenotype", + "lateral structure physiology phenotype", "immaterial anatomical entity", + "eye movement", + "Strabismus", + "body part movement", + "multicellular organismal process phenotype", + "anatomical line", "behavior", + "decreased qualitatively sensory perception of mechanical stimulus", + "eye physiology phenotype", "concave 3-D shape anatomical entity", "Abnormality of eye movement", - "response to stimulus", - "eye movement", - "abnormal eye movement", - "Strabismus", - "behavior process", - "abnormal response to stimulus", - "Abnormality of body height", + "Atypical behavior", + "camera-type eye physiology phenotype", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "multicellular organism height phenotype", "Short stature", + "size of multicellular organism phenotype", "delayed biological_process", - "abnormal DNA damage response", - "delayed growth", - "abnormal size of multicellular organism", + "Abnormality of body height", + "Abnormal renal collecting system morphology", + "macromolecule metabolic process", + "Duplicated collecting system", "Neoplasm", - "Hematological neoplasm", - "vasculature", + "Leukemia", + "neoplasm phenotype", + "Localized skin lesion", + "Cafe-au-lait spot", + "Macule", + "biological_process rate phenotype", + "increased qualitatively biological_process", + "Hyperpigmentation of the skin", + "Abnormal heart morphology", + "Abnormal cardiovascular system morphology", + "heart morphology phenotype", + "circulatory organ", + "heart plus pericardium", + "thoracic cavity element", + "vascular system", "Abnormality of the vasculature", - "blood circulation", - "Bruising susceptibility", - "Subcutaneous hemorrhage", - "abnormality of cardiovascular system physiology", + "Abnormality of the cardiovascular system", + "anatomical cluster phenotype", "Generalized abnormality of skin", - "Internal hemorrhage", - "Abnormality of blood circulation", "Vascular skin abnormality", - "vascular system", - "Abnormal bleeding", - "abnormal anatomical entity morphology in the skeleton of manus", + "vasculature", + "pigmentation", + "Abnormal finger phalanx morphology", + "Duplication of thumb phalanx", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", "manual digit bone", - "Duplication of bones involving the upper extremities", + "eye movement phenotype", + "manual digit digitopodial skeleton", "phalanx endochondral element", - "manual digit phalanx endochondral element", - "Duplication of phalanx of hand", - "abnormal phalanx morphology", - "acropodial skeleton", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", "phalanx", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "digitopodium bone", "skeleton of manual acropodium", - "manual digitopodium bone", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", + "digitopodium bone", + "regulation of macromolecule metabolic process", "regulation of biosynthetic process", + "pigmentation phenotype", "individual digit of digitopodial skeleton", "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "Abnormality of DNA repair", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "decreased height of the anatomical entity", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "Duplicated collecting system", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "metabolic process", + "regulation of cellular biosynthetic process", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", + "negative regulation of gene expression", "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "negative regulation of cellular process phenotype", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "regulation of cellular biosynthetic process phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Neurodevelopmental delay", + "multicellular organism mass phenotype", + "material anatomical entity mass phenotype", + "decreased anatomical structure mass", + "decreased material anatomical entity mass", "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormal growth", - "decreased anatomical entity mass", - "abnormal cell cycle", - "Duplication of thumb phalanx", - "abnormality of anatomical entity mass", - "sensory system", - "decreased size of the eyeball of camera-type eye", - "simple eye", - "eyeball of camera-type eye", "camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "abnormal camera-type eye morphology", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "entire sense organ system", + "Abnormality of the orbital region", + "camera-type eye morphology phenotype", "Abnormality of the eye", - "abnormal face", + "face phenotype", "orbital region", - "abnormal eyeball of camera-type eye", - "abnormal size of eyeball of camera-type eye", - "visual system", - "Abnormality of the orbital region", - "Abnormality of the face", "sense organ", "Microphthalmia", - "abnormal enucleated reticulocyte morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Non-obstructive azoospermia", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "system process", - "Duplication of hand bones", - "abnormal nitrogen compound metabolic process", - "nervous system process", - "axial skeleton plus cranial skeleton", - "Abnormal appendicular skeleton morphology", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "acropodium region", - "Intellectual disability", - "bone marrow", - "multicellular organismal process", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "size of eyeball of camera-type eye phenotype", + "simple eye", + "sensory system", + "face morphology phenotype", + "Abnormal eye morphology", + "orbital region phenotype", + "number of anatomical enitites of type reticulocyte phenotype", + "decreased number of reticulocyte", + "enucleated reticulocyte", + "reticulocyte", + "enucleated reticulocyte morphology phenotype", + "decreased length of digit 1", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased length of autopodial extension", + "decreased size of the material anatomical entity", + "Short thumb", + "decreased length of multicellular anatomical structure", + "decreased length of manual digit", + "decreased length of anatomical structure", + "decreased length of material anatomical entity", + "decreased size of the organism subdivision", + "decreased size of the anatomical entity", + "decreased length of organism subdivision", + "negative regulation of metabolic process phenotype", + "Short finger", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of radius bone", + "forelimb zeugopod bone phenotype", + "decreased multicellular anatomical structure mass", + "Absent radius", + "absent forelimb zeugopod bone", + "U-shaped anatomical entity", + "long bone phenotype", "Aplasia/hypoplasia involving forearm bones", - "segment of manus", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal immune system morphology", - "genitourinary system", - "decreased qualitatively reproductive process", - "Abnormal skeletal morphology", + "absent bone element in the limb", + "forelimb zeugopod morphology phenotype", + "absent bone of pectoral complex in the forelimb", + "absent long bone", + "bone of pectoral complex morphology phenotype", + "absent forelimb endochondral element in the limb", + "Abnormal forearm bone morphology", + "absent radius bone in the forelimb", + "bone of pectoral complex phenotype", + "limb long bone morphology phenotype", + "absent endochondral bone in the forelimb", + "absent limb endochondral element in the limb", + "delayed growth", + "arm bone phenotype", + "simple eye physiology phenotype", + "absent organ in the forelimb", + "cellular process", + "long bone morphology phenotype", + "absent endochondral element", + "absent organ in the limb", + "Aplasia/Hypoplasia of the radius", + "vestibulo-auditory system", + "absent limb endochondral element", + "absent limb bone", + "forelimb bone phenotype", + "absent bone of free limb or fin in the limb", + "Absent forearm bone", + "decreased size of the organ", + "absent forelimb bone", + "absent bone element", + "Abnormal morphology of the radius", + "Reticulocytopenia", + "absent forelimb bone in the limb", + "absent endochondral element in the forelimb", + "number of anatomical enitites of type bone element phenotype", + "forelimb long bone phenotype", + "nervous system process phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "increased biological_process", + "absent bone of free limb or fin", + "radius bone phenotype", + "absent bone of free limb or fin in the forelimb", + "regulation of biosynthetic process phenotype", + "zeugopod", + "decreased length of anatomical entity", + "bone of pectoral complex", + "nervous system physiology phenotype", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "pathological phenotype observation", "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "paired limb/fin skeleton", - "arm", - "endochondral bone", + "decreased functionality of the gonad", + "decreased sensory perception of sound", + "anatomical system physiology phenotype", + "subdivision of head", + "absent mesoderm-derived structure in the forelimb", + "appendage girdle complex", + "digit phenotype", + "Renal hypoplasia/aplasia", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Hypermelanotic macule", + "absent kidney in the renal system", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "kinesthetic behavior", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "Duplication of hand bones", + "nervous system process", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "decreased size of the anatomical structure", + "organ", + "occurrent", "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "Abnormal finger phalanx morphology", - "pigmentation", - "bone of appendage girdle complex", - "abnormal limb morphology", - "system", - "aplasia or hypoplasia of manual digit 1", + "endochondral bone", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", "entity", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal autopod region morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "forelimb zeugopod bone morphology phenotype", + "behavior process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "acropodial skeleton", + "autopod region morphology phenotype", + "appendage", + "anatomical entity phenotype", + "decreased multicellular organismal process", + "root", + "localised testis", "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "limb", + "bone of free limb or fin", + "cavitated compound organ phenotype", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "cardiovascular system", + "absent skeletal element", + "manual digit morphology in the manus phenotype", + "localised cavitated compound organ", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "number of anatomical enitites of type endochondral bone phenotype", + "upper limb segment phenotype", + "endochondral element phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "protein-containing material entity", + "segment of manus", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "multi-limb segment region", + "manual digit plus metapodial segment", + "digit 1 plus metapodial segment", + "anatomical entity length phenotype", + "digit", + "digit 1 or 5 phenotype", + "Abnormal digit morphology", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", "Neoplasm by anatomical site", "Decreased anatomical entity mass", "Abnormality of the upper limb", + "limb", "cell", "absent anatomical entity in the renal system", - "skeleton", - "male gamete generation", - "absent anatomical entity", - "Abnormal digit morphology", - "appendicular skeletal system", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", - "agenesis of anatomical entity", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "absent skeletal element in the forelimb", + "absent bone of appendage girdle complex in the forelimb", + "pectoral appendage", + "absent organism subdivision", + "Neurodevelopmental abnormality", + "manus phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "axial skeleton plus cranial skeleton", + "Abnormal hand morphology", + "Metazoa", + "absent mesoderm-derived structure", + "Aplasia/hypoplasia involving bones of the extremities", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "digitopodium region", + "skeleton of manus", + "skeleton of limb", + "Aplasia involving forearm bones", + "autopodial extension phenotype", + "regulation of macromolecule metabolic process phenotype", "anatomical collection", + "G2 phase", + "nervous system phenotype", "All", - "increased qualitatively biological_process", "Aplasia involving bones of the extremities", - "abnormal digit morphology", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "paired limb/fin segment phenotype", + "absent anatomical structure in the forelimb", + "acropodium region", + "Intellectual disability", + "bone marrow", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "erythrocyte morphology phenotype", + "paired limb/fin segment", + "Opisthokonta", + "Duplication of bones involving the upper extremities", + "localised abdominal segment element", + "genitourinary system", + "decreased size of the digit", + "paired limb/fin", + "skeleton phenotype", + "absent forelimb endochondral element", + "limb phenotype", + "paired limb/fin skeleton", + "arm phenotype", + "hematopoietic system", + "agenesis of anatomical entity", + "nucleobase-containing compound metabolic process", + "manus morphology phenotype", + "increased pigmentation", + "material anatomical entity phenotype", + "absent kidney", + "digit 1 phenotype", + "bone of appendage girdle complex", + "arm", + "multicellular anatomical structure mass phenotype", + "male reproductive organ phenotype", + "manual digit", + "limb bone morphology phenotype", + "Abnormal skeletal morphology", + "anatomical system", + "absent anatomical structure in the limb", + "Abnormality of thumb phalanx", + "decreased number of leukocyte", + "decreased size of the sense organ", + "anatomical collection phenotype", + "quality", + "decreased number of platelet", + "Aplasia/hypoplasia of the extremities", + "decreased number of anatomical entity", + "Abnormal cellular phenotype", + "abdominal segment element", + "decreased number of neutrophil", + "renal collecting system phenotype", + "musculature", + "regional part of brain", "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of manus", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", "thoracic segment of trunk", - "skeletal system", - "motile cell", - "aplastic anatomical entity", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "abnormally decreased number of myeloid cell", + "number of anatomical enitites of type material anatomical entity phenotype", + "skeletal element", + "taxon specific phenotype", + "granulocyte morphology phenotype", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "cell phenotype", + "obsolete cell", + "programmed DNA elimination", + "anatomical entity morphology phenotype", + "Abnormal localization of kidney", + "size of skull phenotype", + "digit 1", "face", "aplasia or hypoplasia of manual digit", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "regulation of metabolic process", - "Decreased body weight", - "manual digit 1", - "autopodial extension", - "digit plus metapodial segment", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", - "excretory system", - "bone marrow cell", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", "circulatory system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "abnormal myeloid cell morphology", - "increased biological_process", - "sexual reproduction", - "Macule", + "bone marrow cell", + "Pancytopenia", + "subdivision of organism along appendicular axis phenotype", + "eye phenotype", + "Abnormal cellular immune system morphology", + "absent multicellular anatomical structure in the limb", + "endocrine system phenotype", + "multicellular organism morphology phenotype", + "skeletal system", + "cavitated compound organ", + "Abnormal leukocyte count", + "number of anatomical enitites of type neutrophil phenotype", + "Abnormal myeloid cell morphology", + "U-shaped kidney", + "digit 1 or 5", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "subdivision of skeletal system phenotype", + "Abnormal reticulocyte morphology", + "number of hematopoietic cell phenotype", + "postcranial axial skeleton", + "absent radius endochondral element", + "skeleton", + "Abnormal bleeding", + "immune system phenotype", + "decreased functionality of the organ", + "aplasia or hypoplasia of manual digit 1", + "reproductive system physiology phenotype", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "ear phenotype", + "anatomical entity", + "absent autopodial extension", + "hematopoietic system phenotype", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Abnormal immune system morphology", + "number of platelet phenotype", + "external genitalia", + "skeleton of pectoral complex", + "eukaryotic cell", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "arm bone", + "Abnormal myeloid leukocyte morphology", + "absent forelimb zeugopod bone in the forelimb", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "structure with developmental contribution from neural crest phenotype", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "immune system", "organ system subdivision", - "abnormal blood cell", "erythrocyte", - "quality", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "DNA damage response", - "lateral structure", - "abnormal vasculature", - "abnormal genitourinary system", - "changed developmental process rate", - "Abnormal cerebral morphology", - "abnormal blood circulation", - "arm bone", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "abnormal hematopoietic system", - "Renal agenesis", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "nucleate cell", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "renal system", - "absent digit", - "phenotype", + "decreased number of cell", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "Abnormality of skin pigmentation", + "phenotypic effect", + "size of anatomical entity phenotype", + "absent anatomical entity in the multicellular organism", + "organ physiology phenotype", "Abnormal cell morphology", - "skeletal element", - "zeugopod", - "Abnormal cellular immune system morphology", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal kidney morphology", + "phenotype", + "limb endochondral element", + "digit plus metapodial segment", + "skeletal system phenotype", + "absent anatomical entity", + "Bruising susceptibility", + "absent compound organ in the renal system", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "bone of appendage girdle complex phenotype", + "number of anatomical enitites of type lateral structure phenotype", + "shape kidney", + "ectoderm-derived structure physiology phenotype", + "negative regulation of metabolic process", + "nervous system morphology phenotype", + "manual digit 1 or 5", + "myeloid leukocyte", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "manual digitopodium bone", + "localised lateral structure", + "vision/eye phenotype", + "absent multicellular anatomical structure in the skeletal system", + "organism subdivision", + "cell cycle phenotype", + "regional part of brain phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "neutrophil phenotype", + "external male genitalia", + "aplasia or hypoplasia of skeleton", + "cellular response to stress phenotype", + "craniocervical region morphology phenotype", + "localised multicellular anatomical structure", "main body axis", - "decreased spermatogenesis", - "regional part of nervous system", - "abdominal segment element", - "abnormal reproductive system morphology", - "Abnormal conjugate eye movement", - "forelimb bone", + "decreased functionality of the reproductive organ", "non-connected functional system", - "Abnormality of the upper urinary tract", - "abnormal renal system", + "absent bone of appendage girdle complex in the limb", + "number of cell phenotype", + "number of leukocyte phenotype", + "platelet", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "Abnormal limb bone morphology", + "absent digit", + "musculoskeletal system", + "absent material anatomical entity in the forelimb", + "manual digit phenotype", + "anatomical system phenotype", + "musculature phenotype", + "number of myeloid cell phenotype", + "DNA metabolic process phenotype", + "multi-limb segment region phenotype", "hemolymphoid system", - "biological_process", - "myeloid leukocyte", - "entire sense organ system", - "absent radius bone in the independent continuant", - "Abnormal localization of kidney", - "biological regulation", - "Global developmental delay", - "abdominal segment of trunk", - "renal collecting system", - "Ectopic kidney", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal immune system", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", - "abnormal renal system morphology", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "absent kidney in the renal system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "reproduction", - "absent anatomical entity in the multicellular organism", + "decreased number of material anatomical entity", + "absent mesoderm-derived structure in the limb", + "autopod region phenotype", + "Abnormal nervous system physiology", + "Abnormality of the immune system", "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", + "anatomical structure mass phenotype", "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Aplasia/hypoplasia involving the skeleton", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "subdivision of trunk", - "absent manual digit", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "body proper", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "continuant", - "abnormality of ear physiology", + "decreased functionality of the anatomical structure", + "Thrombocytopenia", + "leukocyte", + "increased biological_process in skin of body", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "number of anatomical enitites of type compound organ phenotype", + "cellular response to stimulus phenotype", + "absent bone element in the forelimb", + "Abnormal appendicular skeleton morphology", + "anatomical structure physiology phenotype", + "bone element", + "mesoderm-derived structure phenotype", + "decreased number of hematopoietic cell", "absent anatomical entity in the forelimb", "multicellular anatomical structure", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "Abnormality of globe size", + "bone element phenotype", + "cell cycle", + "pectoral complex", + "decreased size of the manual digit", + "trunk region element", + "absent limb long bone in the forelimb", + "Anemic pallor", "cellular metabolic process", + "superficial fascia", "Abnormality of neutrophils", - "leukocyte", - "abnormal gamete generation", - "protein-containing material entity", - "gamete generation", - "abnormally decreased number of cell in the independent continuant", - "abnormal neutrophil", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "phalanx of manus", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", - "abnormal nervous system", - "paired limb/fin segment", - "abnormality of camera-type eye physiology", - "immune system", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "Absent forearm bone", - "Leukemia", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "blood cell", - "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", - "Abnormal myeloid cell morphology", - "U-shaped kidney", - "digit 1 or 5", - "skeleton of manual digitopodium", - "primary circulatory organ", - "granulocyte", - "Complete duplication of phalanx of hand", - "limb bone", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "viscus", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "aplastic manual digit 1", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "digit 1 digitopodial skeleton", + "decreased number of myeloid cell", + "decreased size of the autopodial extension", + "absent bone of pectoral complex in the limb", + "process", + "anatomical entity morphology in the pectoral complex phenotype", + "number of anatomical enitites of type kidney phenotype", + "Abnormal granulocyte morphology", + "glandular system", + "Abnormal male external genitalia morphology", + "subdivision of head phenotype", + "blood cell phenotype", + "decreased number of granulocyte", + "multicellular anatomical structure phenotype", + "regulation of metabolic process", + "Decreased body weight", + "decreased size of the ectoderm-derived structure", + "manual digit 1", + "autopodial extension", + "absent trunk region element in the renal system", + "continuant", + "paired limb/fin phenotype", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "musculature of body", + "camera-type eye phenotype", + "manus", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "integument phenotype", "Abnormal eye physiology", "segment of autopod", + "response to stimulus phenotype", "reproductive system", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal granulocyte morphology", - "abnormally decreased number of granulocyte", - "manual digit 1 plus metapodial segment", - "abdomen", - "neutrophil", - "Complete duplication of thumb phalanx", - "manual digit 1 phalanx", - "abnormal forelimb zeugopod bone", - "Abnormal myeloid leukocyte morphology", - "Pancytopenia", - "abnormal head", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", - "organism", - "programmed DNA elimination", - "obsolete cell", - "internal male genitalia", - "Abnormal granulocyte count", + "anatomical entity morphology in the manus phenotype", + "sensory perception of mechanical stimulus phenotype", + "anatomical line between pupils", + "independent continuant", + "aplastic manual digit 1", + "number of anatomical enitites of type organism subdivision phenotype", + "anatomical structure", + "localised trunk region element", + "absent lateral structure", + "Anemia", + "manus bone", + "Abnormality of the hand", + "radius bone", + "Subcutaneous hemorrhage", + "absent organism subdivision in the multicellular organism", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "limb segment", + "cellular organisms", + "Abnormal neutrophil count", + "forelimb morphology phenotype", + "absent manual digit", + "Abnormal thumb morphology", + "subdivision of trunk", + "subdivision of organism along appendicular axis", + "absent anatomical structure in the multicellular organism", + "telencephalon phenotype", + "male reproductive system phenotype", + "autopodial skeleton", + "DNA damage response", + "lateral structure", + "cellular process phenotype", + "multicellular organism phenotype", + "external genitalia phenotype", + "system process", + "Abnormality of mental function", + "external male genitalia phenotype", + "absent organ in the multicellular organism", + "multicellular organismal process", + "Hypergonadotropic hypogonadism", + "material anatomical entity physiology phenotype", + "number of anatomical enitites of type granulocyte phenotype", + "reproductive structure physiology phenotype", + "behavior phenotype", + "forelimb zeugopod bone", + "nervous system", + "renal system", + "endochondral bone phenotype", + "cognition", + "absent abdominal segment element", + "localised anatomical structure", + "simple eye phenotype", + "abdomen element", + "absent anatomical structure", + "localised kidney", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "absent cavitated compound organ", + "Abnormal renal morphology", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "renal system phenotype", + "nucleic acid metabolic process", + "absent endochondral bone in the limb", + "renal collecting system", + "immune system morphology phenotype", + "Ectopic kidney", + "Hearing abnormality", + "absent anatomical structure in the renal system", + "primary circulatory organ", + "skeleton of manual digitopodium", + "absent endochondral bone", + "localised organ", + "body proper", + "DNA repair phenotype", + "skeleton of digitopodium", + "Short digit", + "absent multicellular anatomical structure in the renal system", "eye", "compound organ", "zeugopodial skeleton", "limb long bone", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal hematopoietic cell morphology", - "biological phase", - "autopod bone", - "mesoderm-derived structure", - "abnormal manus", - "craniocervical region", - "abnormal forebrain morphology", + "Finger aplasia", + "abdominal segment element phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "absent radius endochondral element in the forelimb", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "Irregular hyperpigmentation", + "male organism", + "negative regulation of gene expression phenotype", + "localised compound organ", + "Abnormal granulocyte count", + "skin of body phenotype", + "Abnormality of the kidney", + "trunk", + "absent trunk region element in the multicellular organism", + "blood cell", + "Abnormality of the genitourinary system", + "excretory system", + "subdivision of organism along main body axis", + "Abnormal conjugate eye movement", + "renal/urinary system phenotype", + "forelimb bone", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "upper urinary tract phenotype", + "integument", + "platelet phenotype", + "biological_process", + "genitourinary system phenotype", + "decreased length of digit", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "upper urinary tract", + "Growth delay", + "kidney", + "regional part of nervous system", + "telencephalon morphology phenotype", + "skull phenotype", + "forelimb", + "Abnormal forebrain morphology", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "limb long bone phenotype", "multi-tissue structure", - "abnormal craniocervical region morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", + "regulation of macromolecule biosynthetic process phenotype", "Decreased head circumference", - "telencephalon", + "Abnormality of the nervous system", + "central nervous system morphology phenotype", + "cardiovascular system morphology phenotype", "Growth abnormality", "axial skeletal system", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "abnormal head morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", + "absent arm bone", + "reproductive organ", + "primary metabolic process phenotype", + "forebrain morphology phenotype", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", "decreased size of the multicellular organism", + "Abnormal bone marrow cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", "Abnormality of skull size", - "spermatogenesis", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "negative regulation of cellular metabolic process", - "Eukaryota", - "kinesthetic behavior", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "manual digit 1 phalanx endochondral element", - "tissue", - "absent anatomical entity in the semen", + "craniocervical region", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "subdivision of organism along main body axis phenotype", + "regulation of gene expression phenotype", + "system", + "brain morphology phenotype", + "forelimb skeleton", + "endocrine system", + "head morphology phenotype", + "Hematological neoplasm", + "regional part of nervous system phenotype", + "decreased length of manual digit 1 or 5", + "decreased functionality of the multicellular anatomical structure", + "ectoderm-derived structure phenotype", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "absent limb bone in the forelimb", + "erythroid lineage cell", + "telencephalon", + "head phenotype", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "decreased sensory perception of mechanical stimulus", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "cranial skeletal system", + "craniocervical region phenotype", + "brain", + "Abnormality of head or neck", + "Abnormal skull morphology", + "Abnormal brain morphology", + "absent material anatomical entity in the skeletal system", "limb skeleton subdivision", + "location of anatomical entity phenotype", "skull", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "absent sperm in the semen", - "bone of pectoral complex", - "decreased length of anatomical entity", "autopod endochondral element", + "homeostatic process phenotype", "Abnormality of limb bone", "central nervous system", - "regional part of brain", - "forelimb", - "Abnormal forebrain morphology", - "multicellular organismal reproductive process", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Abnormal renal morphology", - "abnormal external genitalia", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "reproductive organ", - "abnormal skull morphology", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "heart plus pericardium", - "Cryptorchidism", - "thoracic segment organ", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "circulatory organ", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Abnormality of cardiovascular system morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "integumental system", - "integument", - "absent radius bone in the forelimb", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Growth delay", - "kidney", - "abnormal biological_process", - "Abnormality of skin morphology", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", + "Abnormality of the genital system", + "reproductive organ physiology phenotype", + "decreased functionality of the material anatomical entity", + "Puberty and gonadal disorders", + "myeloid leukocyte phenotype", + "forebrain", + "gonad physiology phenotype", + "nucleate cell", + "reproductive structure phenotype", + "multicellular anatomical structure physiology phenotype", + "limb endochondral element phenotype", + "number of anatomical enitites of type abdomen element phenotype", + "absent arm bone in the forelimb", + "viscus", + "anatomical entity mass phenotype", + "reproductive organ phenotype", + "sense organ phenotype", + "Abnormality of reproductive system physiology", + "absent lateral structure in the renal system", + "behavior process phenotype", + "reproductive system phenotype", + "skull morphology phenotype", + "localised reproductive structure", + "gonad phenotype", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", "Neutropenia", "reproductive structure", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "germ line cell", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal integument", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "limb segment", - "absent sperm", - "abnormal endocrine system", - "abnormally decreased number of reticulocyte", + "vasculature phenotype", + "growth phenotype", "Abnormality of the endocrine system", - "Abnormality of reproductive system physiology", - "gamete", - "male gamete", - "abnormally decreased functionality of the gonad", - "Abnormality of the genital system", - "glandular system", - "absent kidney", - "subdivision of skeletal system", - "abnormally decreased number of neutrophil", - "absent kidney in the independent continuant", - "abnormal erythrocyte morphology", + "number of anatomical enitites of type skeletal element phenotype", + "number of anatomical enitites of type abdominal segment element phenotype", + "neutrophil", + "absent abdomen element", + "decreased number of anatomical structure", + "absent cavitated compound organ in the renal system", + "number of anatomical enitites of type organ phenotype", + "Duplication of phalanx of hand", + "number of anatomical enitites of type cavitated compound organ phenotype", + "absent organ", + "manual digit phalanx endochondral element", + "number of anatomical enitites of type trunk region element phenotype", + "decreased functionality of the reproductive structure", + "Cryptorchidism", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "absent trunk region element", + "Renal agenesis", + "motile cell", + "absent abdominal segment element in the renal system", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "absent organ in the renal system", + "digit morphology phenotype", + "absent abdomen element in the renal system", + "absent material anatomical entity in the renal system", + "Abnormal platelet count", + "absent compound organ", "oxygen accumulating cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "manus bone", - "radius bone", - "Abnormality of the hand", - "Anemia", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", + "Abnormality of the integument", + "erythroid lineage cell morphology phenotype", + "sensory perception of mechanical stimulus", + "Abnormal upper limb bone morphology", + "skin of body", + "integumental system", + "material anatomical entity", + "skin of body morphology phenotype", + "Abnormal skin morphology", + "shape of continuant phenotype", + "anucleate cell", + "Abnormality of thrombocytes", + "limb bone phenotype", + "secretory cell", "Abnormality of the skeletal system", "biogenic amine secreting cell", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal cellular process", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", - "anucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "cellular organisms", - "Abnormal neutrophil count", - "obsolete multicellular organism reproduction", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "digit 1", - "abnormal platelet morphology", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "developmental process involved in reproduction", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "abnormal testis morphology", - "forelimb zeugopod", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "germ cell", - "absent gamete", - "sperm", - "abnormal gamete", - "Reticulocytopenia", - "organism substance", - "haploid cell", - "disconnected anatomical group", - "abnormal cell", - "male reproductive organ", - "internal genitalia", - "abnormal internal genitalia", - "platelet", - "absent sperm in the independent continuant", + "absent bone of appendage girdle complex", + "organ phenotype", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "testis", + "localised reproductive organ", + "gonad", + "localised gonad", "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "Abnormal external genitalia", - "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "interphase", - "semen", + "cardiovascular system phenotype", + "localised abdomen element", "Abnormal testis morphology", - "male germ cell", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "male organism", - "abnormal granulocyte morphology", - "Azoospermia", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "testis", - "external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "Aplasia involving bones of the upper limbs", - "eukaryotic cell", - "abnormal limb long bone morphology", - "absent forelimb zeugopod bone", - "forelimb zeugopod skeleton", - "abnormal size of skull", + "disconnected anatomical group", + "male reproductive organ", + "testis phenotype", + "response to stress phenotype", + "Small for gestational age", + "Abnormal forearm morphology", + "absent forelimb bone in the forelimb", + "absent limb bone in the limb", + "aplastic forelimb zeugopod bone", "forelimb long bone", - "3-D shape anatomical entity in independent continuant", + "serotonin secreting cell", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", + "radius endochondral element", "Abnormal cellular physiology", "absent anatomical entity in the skeletal system", + "Aplasia involving bones of the upper limbs", + "Abnormal cerebral morphology", + "limb segment phenotype", + "absent endochondral element in the limb", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "forelimb zeugopod", + "absent limb long bone", + "absent limb endochondral element in the forelimb", + "regulation of biological process phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "number of anatomical enitites of type endochondral element phenotype", + "absent skeletal element in the limb", "Pallor", - "abnormal bone of pectoral complex morphology", "absent radius bone", - "Absent radius", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal behavior", - "radius endochondral element", - "sensory perception of mechanical stimulus", - "abnormally decreased number of anatomical entity", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormal radius bone morphology", - "aplastic forelimb zeugopod bone", - "Short finger", - "Abnormal reticulocyte morphology", - "decreased length of anatomical entity in independent continuant", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "decreased length of digit", - "skeleton of digitopodium", - "Short digit", - "reticulocyte" + "absent anatomical structure in the skeletal system" ], "has_phenotype_count": 32, "highlight": null, @@ -5265,10 +6483,12 @@ "xref": [ "DOID:1062", "GARD:9120", + "MEDGEN:4653", "MESH:D005198", "NANDO:2100027", "NANDO:2200187", "NCIT:C3034", + "SCTID:236466005", "SCTID:40488004", "UMLS:C0015624" ], @@ -5293,10 +6513,10 @@ "uri": null, "iri": null, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": 0, "highlight": null, "score": null @@ -5312,6 +6532,7 @@ "DOID:13636", "GARD:6425", "ICD9:284.09", + "MEDGEN:41967", "MESH:D005199", "MedDRA:10055206", "NANDO:1200303", @@ -5342,43 +6563,34 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0010469", - "HP:0000377", + "HP:0000047", "HP:0002575", "HP:0000483", "HP:0000238", "HP:0001249", + "HP:0001000", "HP:0100587", "HP:0100026", "HP:0040071", - "HP:0012639", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0002245", - "HP:0002023", - "HP:0001824", - "HP:0001646", "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000453", - "HP:0000047", - "HP:0007874", - "HP:0002650", "HP:0000252", - "HP:0001882", - "HP:0001510", - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0002863", "HP:0100867", "HP:0100760", "HP:0100542", + "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", @@ -5392,17 +6604,23 @@ "HP:0002827", "HP:0002823", "HP:0002251", + "HP:0002245", + "HP:0002023", "HP:0002007", + "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", + "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", + "HP:0001510", "HP:0001347", "HP:0001199", "HP:0000813", @@ -5414,6 +6632,7 @@ "HP:0000492", "HP:0000486", "HP:0000478", + "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -5432,7 +6651,9 @@ "HP:0000010", "HP:0012745", "HP:0012210", + "HP:0007874", "HP:0002664", + "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -5443,50 +6664,41 @@ "HP:0003220", "HP:0002817", "HP:0001903", + "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", - "HP:0001053", - "HP:0001000" + "HP:0001053" ], "has_phenotype_label": [ - "Absent testis", - "Abnormal pinna morphology", + "Hypospadias", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", "Intellectual disability", + "Abnormality of skin pigmentation", "Abnormal preputium morphology", "Arteriovenous malformation", "Abnormal morphology of ulna", - "Abnormal nervous system morphology", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Meckel diverticulum", - "Anal atresia", - "Weight loss", - "Abnormal aortic valve morphology", "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", "Microcephaly", - "Leukopenia", - "Growth delay", - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", - "Oligohydramnios", + "Myelodysplasia", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", + "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", @@ -5498,19 +6710,25 @@ "Clinodactyly of the 5th finger", "Hypoplasia of the ulna", "Hip dislocation", - "Abnormality of femur morphology", + "Abnormal femur morphology", "Aganglionic megacolon", + "Meckel diverticulum", + "Anal atresia", "Frontal bossing", + "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", + "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", + "Growth delay", "Hyperreflexia", "Triphalangeal thumb", "Bicornuate uterus", @@ -5522,6 +6740,7 @@ "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", + "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -5540,7 +6759,9 @@ "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", + "Almond-shaped palpebral fissure", "Neoplasm", + "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -5551,1035 +6772,1228 @@ "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", + "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", - "Hypopigmented skin patches", - "Abnormality of skin pigmentation" + "Hypopigmented skin patches" ], "has_phenotype_closure": [ "HP:0001010", - "UPHENO:0084987", - "UPHENO:0085070", "HP:0001873", - "UPHENO:0086173", - "CL:0000458", - "UPHENO:0085189", - "UPHENO:0086049", - "CL:0000233", + "UPHENO:0080010", "CL:0000457", + "UPHENO:0077373", + "CL:0000233", + "CL:0000458", "UPHENO:0085344", "HP:0011875", - "HP:0001939", + "UPHENO:0086173", + "HP:0011893", + "CL:0000738", + "UPHENO:0088166", + "UPHENO:0035160", + "UPHENO:0088319", + "UPHENO:0076675", + "UBERON:0000179", + "CL:0000255", + "CL:0000219", + "UBERON:0000178", + "UPHENO:0077348", + "UPHENO:0085410", + "UPHENO:0049904", "GO:0008152", "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0048871", - "UPHENO:0088162", - "UPHENO:0088170", - "CL:0000329", "HP:0010972", - "HP:0020047", - "CL:0000764", - "HP:0005522", - "HP:0001877", - "HP:0025461", - "UPHENO:0084928", - "GO:0030218", + "GO:0030099", + "GO:0030097", + "CL:0000988", + "GO:0048872", + "GO:0042592", "GO:0002376", "GO:0009987", - "GO:0042592", - "GO:0048869", + "HP:0001877", "CL:0000232", - "GO:0048872", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", - "HP:0002818", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "UPHENO:0088170", + "CL:0000764", + "CL:0001035", + "GO:0030218", + "UPHENO:0088162", + "HP:0025461", "UBERON:0015001", "UPHENO:0080187", - "HP:0012745", + "HP:0002650", + "HP:0200005", + "UPHENO:0041462", + "UPHENO:0069119", + "UPHENO:0046755", "UPHENO:0075198", + "UPHENO:0069562", "HP:0000010", "UPHENO:0002263", + "UPHENO:0002948", + "UPHENO:0053561", + "CL:0000329", + "UPHENO:0053632", + "UPHENO:0002940", + "UPHENO:0053647", "UPHENO:0053644", + "UPHENO:0053572", "HP:0000028", + "UPHENO:0053559", + "UBERON:0000056", + "UPHENO:0002636", "UBERON:0036295", + "HP:0000072", "UBERON:0006555", - "UPHENO:0002806", + "UPHENO:0003101", "HP:0025633", - "UBERON:0000056", - "UPHENO:0086132", + "UPHENO:0002859", + "UPHENO:0002426", + "UPHENO:0002377", + "UPHENO:0002427", "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", - "HP:0000083", + "UPHENO:0002422", "HP:0000135", + "UPHENO:0003056", + "UPHENO:0002381", + "UPHENO:0066972", + "UPHENO:0066945", + "UPHENO:0033589", + "UPHENO:0002806", + "UPHENO:0033612", "HP:5201015", - "UPHENO:0034110", - "UPHENO:0063513", + "UPHENO:0077399", + "UPHENO:0001392", + "HP:0000218", + "UPHENO:0063518", + "UPHENO:0063524", "UPHENO:0081423", + "UPHENO:0063529", + "UPHENO:0063519", "HP:0000268", - "UPHENO:0001208", "UPHENO:0072402", - "UBERON:0001084", + "UPHENO:0072332", "UPHENO:0087058", - "UBERON:0013766", - "UPHENO:0087928", "UBERON:1000021", + "UPHENO:0087928", + "UPHENO:0072266", + "UBERON:0013766", + "UPHENO:0072293", + "UBERON:0001084", "UPHENO:0084734", "HP:0001999", "HP:0000324", - "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0076704", + "UPHENO:0041151", "UPHENO:0041083", - "UPHENO:0081786", - "UBERON:0004768", - "HP:0004322", - "HP:0030791", - "HP:0000277", - "UPHENO:0083646", - "UPHENO:0081314", - "UPHENO:0084457", + "HP:0000347", "HP:0000286", "HP:0009118", - "UPHENO:0088116", + "UPHENO:0081314", "CL:0000081", "UBERON:0012360", + "UPHENO:0002732", + "UBERON:0001710", + "UPHENO:0076780", + "UPHENO:0002815", + "HP:0011873", + "UPHENO:0081788", + "UPHENO:0088116", + "UPHENO:0002772", + "UPHENO:0081141", + "HP:0012745", + "UPHENO:0002818", "UPHENO:0080087", - "UPHENO:0069249", "UBERON:0001708", - "UBERON:0011156", "UBERON:0003278", "UBERON:0001684", - "UPHENO:0081141", + "UPHENO:0002761", + "HP:0000277", + "UBERON:0004768", + "UPHENO:0081786", + "UPHENO:0002942", "HP:0009116", - "HP:0000347", - "UBERON:0001710", - "HP:0009122", - "HP:0011873", - "UPHENO:0081788", - "UPHENO:0005518", "HP:0000365", - "GO:0050954", "UPHENO:0052970", - "HP:0000549", + "UPHENO:0005513", + "UPHENO:0005518", + "UPHENO:0087894", + "UPHENO:0063621", + "HP:0000453", + "HP:0000415", + "HP:0000366", + "UPHENO:0002906", + "UPHENO:0063595", + "UPHENO:0033635", + "UBERON:0004771", + "UBERON:0000003", "HP:0000486", - "UPHENO:0052164", - "UPHENO:0050236", - "GO:0050953", "GO:0034101", "UPHENO:0050622", - "HP:0000520", + "UPHENO:0052165", + "UPHENO:0052159", + "UPHENO:0052162", + "UPHENO:0050236", + "GO:0050953", + "UPHENO:0052161", + "UPHENO:0052164", "UPHENO:0085881", - "HP:0000568", - "UPHENO:0075219", + "HP:0000520", + "UPHENO:0068914", "HP:0100887", - "UPHENO:0066972", - "UPHENO:0080581", - "UPHENO:0079837", + "UPHENO:0069161", + "UPHENO:0075219", + "UPHENO:0002467", + "UPHENO:0003044", "HP:0000359", - "HP:0000496", "UPHENO:0079828", + "HP:0031704", + "HP:0000496", "HP:0007670", "UPHENO:0002240", - "UPHENO:0080602", - "UPHENO:0003044", - "HP:0011821", - "HP:0012547", - "HP:0031704", - "UBERON:0003100", + "UPHENO:0079837", "HP:0000008", - "UBERON:0003975", - "UPHENO:0003053", - "UPHENO:0041033", - "HP:0010460", "UPHENO:0005170", - "UBERON:0000993", - "UBERON:0013515", + "UBERON:0003100", "HP:0000130", + "UPHENO:0041664", + "UPHENO:0041033", + "UPHENO:0003053", "HP:0002719", "UPHENO:0076766", - "UBERON:0012358", - "GO:0002262", - "UBERON:0003620", - "UBERON:0006048", + "HP:0010460", + "UBERON:0000993", + "UPHENO:0046471", + "UBERON:0013515", + "UBERON:0003975", + "UPHENO:0002977", "UBERON:5006048", - "UBERON:0015025", - "HP:0001172", + "UBERON:5102389", "UBERON:0015024", - "UPHENO:0021800", + "UBERON:0001463", + "UBERON:0006048", + "UBERON:0015025", "UPHENO:0076724", - "UBERON:5102389", - "GO:0007610", + "HP:0001172", + "UPHENO:0050620", + "GO:0060004", "HP:0000708", - "HP:0001347", - "NBO:0000389", - "UPHENO:0050606", - "UPHENO:0083263", - "UPHENO:0049622", + "HP:0100022", "UBERON:0004742", "NBO:0000388", - "HP:0100022", - "UPHENO:0080585", - "UPHENO:0050613", + "NBO:0000338", + "UPHENO:0083263", + "UPHENO:0050875", + "UPHENO:0050079", + "GO:0007610", + "UPHENO:0051276", + "UPHENO:0079826", + "UPHENO:0055094", + "UPHENO:0049703", + "UPHENO:0049708", "NBO:0000403", + "NBO:0000389", + "UPHENO:0050606", + "UPHENO:0049622", + "UPHENO:0052160", + "UPHENO:0050106", + "UPHENO:0005596", "NBO:0000001", - "GO:0050896", - "UPHENO:0041151", - "UPHENO:0078622", - "UPHENO:0050620", - "GO:0060004", - "UPHENO:0050079", - "GO:0050905", - "NBO:0000338", - "UPHENO:0080393", - "HP:0001537", - "UPHENO:0076794", - "HP:0001551", + "UPHENO:0050068", + "UPHENO:0052694", + "UPHENO:0000541", + "UPHENO:0002712", + "HP:0004298", 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"UBERON:0004248", - "HP:0011297", - "UPHENO:0076957", - "HP:0001824", - "UBERON:0004709", - "UBERON:0005440", - "HP:0001882", - "UPHENO:0002905", - "UPHENO:0084654", - "UPHENO:0082444", - "HP:0010674", - "HP:0001217", - "UPHENO:0078125", - "UBERON:0010709", - "HP:0040072", + "UPHENO:0081575", "UBERON:0004053", + "HP:0040072", "UBERON:0001441", "UBERON:0015023", - "UBERON:0001711", - "UBERON:0003221", - "UPHENO:0087369", - "UPHENO:0081575", + "UBERON:0000154", + "UBERON:0004122", + "HP:0009826", "UPHENO:0002964", "UPHENO:0088140", "UBERON:0006314", "UPHENO:0041821", - "UPHENO:0033603", - "UBERON:0001466", + "UPHENO:0002733", + "HP:0001824", + "UBERON:0004709", + "UPHENO:0086628", + "UPHENO:0076748", + "UBERON:0012152", + "UPHENO:0078375", + "UBERON:0010696", + "NBO:0000444", + "UPHENO:0081344", + "UPHENO:0086866", + "UBERON:0001445", + "UPHENO:0084763", "HP:0100760", - "CL:0000763", - "UPHENO:0049586", - "UBERON:0010742", - "HP:0004349", - "HP:0040068", - "UBERON:0002470", - "UBERON:0012139", + "UPHENO:0086700", + "UBERON:0004248", + "HP:0011297", + "UPHENO:0076957", + "UPHENO:0001391", + "HP:0100790", + "HP:0010935", + "UPHENO:0075902", + "CL:0000015", + "UPHENO:0002754", "UBERON:0002137", "UBERON:0011143", "UBERON:0007842", "UBERON:0002113", - "UPHENO:0087123", - "UBERON:0000978", - "HP:0000077", - "UBERON:0002199", - "HP:0001199", - "UPHENO:0000996", - "UBERON:0005881", - "UPHENO:0076779", - "UBERON:0001846", - "UBERON:0002217", - "UPHENO:0087806", - "UPHENO:0002828", - "UBERON:0007375", + "UBERON:0002544", + "UPHENO:0076695", + "UBERON:0000060", + "UPHENO:0087585", + "UBERON:0011159", + "UPHENO:0079872", + "UBERON:0000982", + "UPHENO:0002807", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", "UBERON:0012240", "UBERON:0001734", "UBERON:0005944", "UBERON:0000079", "UBERON:0001716", + "UBERON:0000949", + "UBERON:0001733", + "UPHENO:0087806", + "UPHENO:0002828", + "UPHENO:0003095", + "UBERON:0034768", "UBERON:0002553", - "UPHENO:0076786", - "UBERON:0001703", - "UPHENO:0078215", + "HP:0010293", "UBERON:0004089", - "UPHENO:0088088", - "UBERON:0034768", - "HP:0031816", + "UPHENO:0063514", + "UPHENO:0081570", + "UPHENO:0076781", + "UPHENO:0004476", "UPHENO:0075843", "HP:0000172", - "UPHENO:0081570", + "UBERON:0007375", + "HP:0031816", "HP:0008678", "HP:0012372", "UBERON:0005179", - "UPHENO:0021670", + "HP:0010674", + "HP:0001217", + "UPHENO:0071332", + "UBERON:0001766", + "HP:0001155", + "UBERON:0003101", + "UPHENO:0080201", "HP:0000553", - "UPHENO:0041664", - "UPHENO:0086817", + "GO:0009605", + "UBERON:0004088", + "UPHENO:0088049", + "UBERON:0001464", + "UPHENO:0005231", + "UPHENO:0063794", "UBERON:0000063", + "UPHENO:0001147", "UBERON:0007273", "HP:0008056", - "UBERON:0001272", "GO:0005623", "UBERON:0006311", - "UBERON:0011892", - "UPHENO:0088183", - "UBERON:0004121", - "HP:0000525", - "UBERON:5002544", - "UBERON:0001769", - "HP:0008062", - "UPHENO:0081313", - "UPHENO:0082356", - "UBERON:0001766", - "GO:0009605", - "UBERON:0004088", - "UPHENO:0088049", "UPHENO:0071334", "UPHENO:0080209", - "UPHENO:0079826", - "UPHENO:0072814", + "UBERON:5002544", + "UBERON:0001769", "HP:0000593", + "UBERON:5002389", + "BFO:0000040", + "UPHENO:0071317", + "HP:0034261", + "UPHENO:0076692", + "UPHENO:0046445", + "HP:0008053", + "UPHENO:0054957", + "UPHENO:0074575", + "CL:0000225", + "UPHENO:0054970", "UBERON:0001359", "UPHENO:0074584", "UBERON:0000167", "UBERON:0001442", "HP:0001034", - "CL:0000225", - "UPHENO:0054970", - "UPHENO:0080221", - "UPHENO:0022529", - "HP:0008053", - "UPHENO:0054957", - "UPHENO:0078736", - "HP:0031105", - "UBERON:0002416", - "HP:0000309", - "UPHENO:0082682", - "HP:0012210", - "UPHENO:0059829", - "UPHENO:0074575", - "UPHENO:0080601", - "UPHENO:0086172", - "UPHENO:0074589", - "UPHENO:0084511", - "UPHENO:0066927", - "UBERON:0010000", - "UBERON:0010230", - "HP:0011121", + "UPHENO:0085371", + "UPHENO:0076723", "UBERON:0002384", "UBERON:0012141", - "UBERON:0003101", - "UPHENO:0080201", - "HP:0001155", + "UBERON:0005451", + "UPHENO:0084653", + "HP:0005922", + "UBERON:0002355", + "HP:0006265", + "UPHENO:0046487", "UPHENO:0049940", "UPHENO:0084761", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0085371", - "UPHENO:0076723", - "HP:0045060", - "CL:0000151", - "HP:0001510", - "HP:0001167", + "HP:0000483", + "UPHENO:0001360", + "UPHENO:0003799", "HP:0008373", "HP:0005927", - "UPHENO:0084766", - "UPHENO:0084653", - "UBERON:0005451", - "HP:0005922", - "UPHENO:0082671", + "HP:0045060", + "UPHENO:0076760", + "UPHENO:0084448", + "GO:0007275", + "UPHENO:0078288", + "HP:0001159", "UPHENO:0078179", - "UPHENO:0082835", - "HP:0011849", - "HP:0010469", - "UBERON:0008202", + "UPHENO:0053330", "UPHENO:0082834", "HP:0004209", - "UPHENO:0087203", "UBERON:0002412", "GO:0001503", - "HP:0009179", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", + "HP:0011849", + "UPHENO:0082835", "UPHENO:0076736", - "HP:0000377", - "HP:0004097", + "UBERON:5003625", + "UPHENO:0001031", "HP:0011446", "HP:0030084", + "HP:0000377", + "HP:0004097", + "HP:0001770", + "UPHENO:0086143", "UBERON:0012357", "UPHENO:0084842", "HP:0009824", - "UBERON:5003625", - "UPHENO:0080369", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UBERON:0002094", + "UPHENO:0046552", + "UPHENO:0068839", + "HP:0000478", + "UPHENO:0046554", + "UPHENO:0076804", + "UPHENO:0046505", + "HP:0001763", + "UPHENO:0068921", + "UPHENO:0087612", + "UPHENO:0046594", + "HP:0410014", + "UPHENO:0069292", + "UPHENO:0081581", "UPHENO:0012274", - "UPHENO:0012541", - "UPHENO:0081790", - "UBERON:0012180", - "UPHENO:0068971", - "UPHENO:0053580", - "HP:0040019", - "UPHENO:0069293", - "HP:0200007", - "HP:0009821", - "UBERON:0001464", - "UPHENO:0087602", - "UBERON:0001271", - "UBERON:0010425", - "UBERON:0007823", - "UPHENO:0087974", - "UBERON:0004770", + "CL:0002092", + "UPHENO:0046484", + "HP:0000568", + "UPHENO:0069064", + "UPHENO:0069125", + "UPHENO:0087892", + "UPHENO:0001001", + "UPHENO:0012440", + "UPHENO:0002987", + "UPHENO:0002866", + "UPHENO:0069030", + "UPHENO:0046483", + "UBERON:0001005", + "UPHENO:0046472", + "UBERON:0003126", + "UPHENO:0002967", + "UPHENO:0068838", + "UBERON:0012180", + "UPHENO:0063588", + "UPHENO:0068971", + "UPHENO:0046397", + "UPHENO:0012312", + "UPHENO:0002902", + "UPHENO:0076754", + "UPHENO:0069194", + "UPHENO:0003015", + "UBERON:0003828", "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0005913", - "UBERON:0000982", - "HP:0002644", + "UBERON:0003463", + "UPHENO:0066905", + "UBERON:0003840", "HP:0000504", "UPHENO:0002813", + "UPHENO:0046465", "UPHENO:0087980", - "UBERON:0001457", - "UBERON:0008907", - "UPHENO:0079871", - "UBERON:0003463", - "UPHENO:0060026", + "UBERON:0011595", + "UPHENO:0081598", + "UPHENO:0081608", + "UPHENO:0003021", "HP:0001367", - "UBERON:0003828", - "UPHENO:0075945", - "UPHENO:0001001", - "UPHENO:0087892", - "UBERON:0008114", - "UBERON:0007828", - "UBERON:0003840", - "HP:0000271", - "UBERON:0005893", - "UBERON:5002389", - "UPHENO:0087558", - "UBERON:0001712", - "UBERON:0001950", - "UBERON:0003826", - "HP:0012331" + "UBERON:0007832" ], "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation in independent continuant", "decreased biological_process in multicellular organism", - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "decreased qualitatively biological_process in independent continuant", "Hypopigmentation of the skin", + "Abnormal platelet morphology", "Thrombocytopenia", "Abnormal platelet count", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of platelet", - "abnormal platelet", + "decreased number of platelet", + "number of platelet phenotype", + "serotonin secreting cell", "anucleate cell", - "secretory cell", - "abnormal blood cell", - "obsolete cell", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "Abnormal cellular immune system morphology", + "decreased number of hematopoietic cell", + "leukocyte", + "decreased number of anatomical structure in the multicellular organism", + "decreased number of leukocyte in the blood", + "decreased number of anatomical structure", + "Leukopenia", + "nucleate cell", + "motile cell", + "decreased number of anatomical entity in the blood", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "Abnormality of body height", + "decreased height of the multicellular organism", "decreased size of the multicellular organism", - "serotonin secreting cell", - "abnormal size of multicellular organism", + "size of multicellular organism phenotype", + "cellular developmental process", + "decreased number of anatomical entity in the multicellular organism", + "blood cell", + "Pyridoxine-responsive sideroblastic anemia", + "Abnormal bone marrow cell morphology", + "Sideroblastic anemia", + "homeostatic process", + "immune system process", + "cellular process", + "erythrocyte differentiation", + "Abnormal erythroid lineage cell morphology", + "cell development", "Abnormal myeloid cell morphology", "Anemia of inadequate production", - "erythrocyte differentiation", - "Sideroblastic anemia", - "myeloid cell differentiation", "hemopoiesis", "erythroid lineage cell", - "abnormal erythroid lineage cell morphology", - "immune system process", - "cellular process", - "homeostatic process", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", - "erythrocyte", - "myeloid cell", - "blood cell", - "erythrocyte homeostasis", "homeostasis of number of cells", - "cellular developmental process", - "Abnormal morphology of the radius", - "abnormal radius bone morphology", + "erythrocyte homeostasis", + "bone cell", "aplasia or hypoplasia of radius bone", - "radius bone", + "Abnormal morphology of the radius", + "radius bone phenotype", + "radius bone morphology phenotype", "Neurodevelopmental delay", + "shape palpebral fissure", + "Abnormal shape of the palpebral fissure", + "decreased size of the anatomical conduit", + "decreased size of the orifice", + "decreased length of ectoderm-derived structure", "decreased length of palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal size of palpebral fissure", - "abnormality of immune system physiology", - "Abnormality of immune system physiology", - "abnormally localised testis", - "abnormally localised anatomical entity in independent continuant", + "decreased size of the palpebral fissure", + "decreased length of orifice", + "decreased length of anatomical conduit", + "immune system physiology phenotype", + "Unusual infection", + "localised male reproductive organ", + "localised organ", "Cryptorchidism", + "localised anatomical structure", "ureter", + "excretory tube phenotype", "Abnormal ureter morphology", "Abnormality of the ureter", - "abnormal ureter morphology", - "Abnormal renal physiology", "Hypopigmented skin patches", "Abnormality of the urinary system physiology", - "abnormally decreased functionality of the gonad", + "cavitated compound organ physiology phenotype", + "abdominal segment element physiology phenotype", + "kidney physiology phenotype", + "Abnormal renal physiology", + "gonad physiology phenotype", + "decreased functionality of the gonad", + "decreased functionality of the reproductive structure", "Cleft palate", + "incomplete closing of the structure with developmental contribution from neural crest", "Craniofacial cleft", - "increased height of anatomical entity in independent continuant", - "increased height of the anatomical entity", + "incomplete closing of the multi-tissue structure", + "increased size of the structure with developmental contribution from neural crest", + "anatomical entity height phenotype", + "increased height of the anatomical structure", "High palate", - "increased size of the head", - "Increased head circumference", - "skin of head", + "increased height of the material anatomical entity", + "increased height of the roof of mouth", + "increased height of the anatomical entity", + "immune system morphology phenotype", + "increased height of the multicellular anatomical structure", + "increased height of the ectoderm-derived structure", + "increased size of the neural crest-derived structure", + "increased height of the multi-tissue structure", + "number of leukocyte phenotype", + "increased length of the ectoderm-derived structure", + "increased length of the organ part", "increased length of the epicanthal fold", "Epicanthus", - "head or neck skin", - "abnormal skin of face morphology", "upper eyelid", + "skin of head morphology phenotype", + "head or neck skin", "skin of face", "zone of skin", - "abnormal asymmetry of anatomical entity", - "abnormal shape of forehead", + "increased size of the zone of organ", + "skin of head", + "asymmetry of anatomical entity phenotype", + "Abnormal leukocyte count", + "Facial asymmetry", + "asymmetry of face phenotype", + "Sloping forehead", + "forehead morphology phenotype", "sloped anatomical entity", - "mandible hypoplasia", - "bone element hypoplasia in face", - "decreased size of the mandible", - "bone of lower jaw", "lower jaw region", - "facial skeleton", - "facial bone", + "dermal bone phenotype", + "increased height of the structure with developmental contribution from neural crest", + "intramembranous bone phenotype", + "bone element hypoplasia in face", + "secretory cell", + "bone of lower jaw phenotype", + "mandible morphology phenotype", "mandible", - "Abnormal mandible morphology", + "dentary phenotype", "facial bone hypoplasia", + "bone of lower jaw", "anatomical entity hypoplasia in face", - "abnormal mandible morphology", - "Hypoplastic facial bones", - "abnormal facial skeleton morphology", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Hearing abnormality", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "mandible hypoplasia", + "sensory perception of sound", "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "abnormal sensory perception of sound", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", + "Hearing abnormality", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased system process", + "Hearing impairment", + "nose phenotype", + "naris", + "olfactory organ", + "compound organ physiology phenotype", + "posterior nasal aperture morphology phenotype", + "naris atresia", + "posterior nasal aperture", "Abnormal conjugate eye movement", "Strabismus", - "abnormal sensory perception", + "visual perception", "sensory perception of light stimulus", + "decreased qualitatively system process", "decreased qualitatively visual perception", - "visual perception", - "abnormal sensory perception of light stimulus", - "abnormally protruding eyeball of camera-type eye", + "sensory perception phenotype", + "decreased qualitatively nervous system process", "Abnormality of globe size", - "cell development", - "abnormal size of eyeball of camera-type eye", - "cranial nerve related reflex", - "Abnormal vestibular function", - "Abnormality of eye movement", - "abnormality of ear physiology", + "sensory perception of light stimulus phenotype", + "size of eyeball of camera-type eye phenotype", + "decreased size of the ectoderm-derived structure", + "internal ear physiology phenotype", "eye movement", - "abnormal eye movement", - "abnormal physiologic nystagmus", - "abnormal vestibulo-ocular reflex", + "vestibulo-ocular reflex phenotype", "Abnormal vestibulo-ocular reflex", - "internal female genitalia", - "abnormal internal female genitalia morphology", + "Abnormality of eye movement", + "multi organ part structure physiology phenotype", + "Abnormal vestibular function", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", "female organism", - "abnormal uterus", - "abnormal female reproductive system", - "bicornuate anatomical entity", - "Abnormality of the female genitalia", - "Abnormality of the uterus", + "internal female genitalia morphology phenotype", + "decreased functionality of the organ", + "oviduct", "uterus", + "bicornuate anatomical entity", "shape uterus", - "oviduct", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", - "abnormal anatomical entity morphology in the skeleton of manus", - "manual digit 1", + "female reproductive organ morphology phenotype", + "Abnormality of the uterus", + "subdivision of oviduct phenotype", + "internal female genitalia", "Abnormal finger phalanx morphology", - "manual digit 1 digitopodial skeleton", - "abnormal manual digit 1 morphology", "Triphalangeal thumb", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", + "manual digitopodium bone", + "digit 1", + "manual digit 1 morphology phenotype", + "decreased sensory perception", + "manual digit bone", + "number of anatomical entities of type anatomical entity in blood phenotype", + "manual digit 1", + "ureter morphology phenotype", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Abnormality of the immune system", + "manual digit phalanx endochondral element", + "facial bone phenotype", + "manual digit 1 digitopodial skeleton", "manus bone", "excretory tube", "manual digit 1 phalanx endochondral element", - "abnormal incomplete closing of the secondary palate", "phalanx of manus", - "abnormal female reproductive system morphology", - "digit 1 digitopodial skeleton", - "skeleton of manual acropodium", - "skeleton of manual digitopodium", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", - "body part movement", + "manual digit 1 plus metapodial segment", "neuromuscular process", - "voluntary musculoskeletal movement", "kinesthetic behavior", - "multicellular organismal movement", - "Abnormality of movement", - "abnormal voluntary musculoskeletal movement", + "voluntary musculoskeletal movement", + "voluntary movement behavior phenotype", + "system process phenotype", + "reflex phenotype", + "increased response to stimulus", "Recurrent urinary tract infections", "involuntary movement behavior", - "Bicornuate uterus", - "abnormal behavior", - "Hyperreflexia", - "increased qualitatively response to stimulus", + "response to external stimulus phenotype", "reflex", - "abnormal response to external stimulus", + "increased qualitatively response to stimulus", + "Global developmental delay", + "reflexive behavior", + "behavior phenotype", + "Hyperreflexia", + "multicellular organismal movement phenotype", "decreased embryo development", - "abnormal embryo development", - "herniated abdominal wall", - "Abnormality of connective tissue", - "Abnormality of the abdominal wall", + "decreased qualitatively multicellular organismal process", + "anatomical structure development phenotype", + "multicellular organismal process phenotype", + "Growth delay", + "decreased qualitatively anatomical structure development", + "decreased qualitatively embryo development", + "delayed growth", + "embryo development rate phenotype", + "embryo development phenotype", + "Abnormality of vision", + "anatomical wall phenotype", "Hernia", - "herniated anatomical entity", - "Hernia of the abdominal wall", - "Abnormal umbilicus morphology", - "umbilicus", + "Abnormality of connective tissue", + "digit 1 digitopodial skeleton", + "tissue phenotype", + "herniated abdominal wall", "connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", - "abnormal cardiac atrium morphology", + "erythrocyte morphology phenotype", + "umbilicus", + "abdominal wall phenotype", + "herniated anatomical entity", + "facial skeleton", + "abdominal viscera", + "incomplete closing of the organ part", + "embryo phenotype", + "organism substance phenotype", + "Renal insufficiency", + "late embryo", + "Abnormality of prenatal development or birth", + "uterus phenotype", + "Oligohydramnios", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "embryonic development/birth phenotype", + "cardiac atrium morphology phenotype", + "metabolic process", + "Abnormal cardiac septum morphology", "interatrial septum", - "abnormal interatrial septum morphology", - "abnormal cardiac atrium morphology in the independent continuant", "Abnormal atrial septum morphology", - "abnormally increased volume of anatomical entity", - "Abnormal ventricular septum morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "hypertrophic cardiac ventricle", "cardiac septum", - "metabolic process", - "Abnormal cardiac septum morphology", - "increased size of the heart right ventricle", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "abnormal pulmonary valve morphology", - "interventricular septum", - "abnormal cardiac septum morphology", - "Abnormal pulmonary valve physiology", - "abnormality of cardiovascular system physiology", - "skin of eyelid", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "hypertrophic heart right ventricle", - "heart layer", - "Abnormal myocardium morphology", + "increased size of the cardiac ventricle", + "incomplete closing of the interventricular septum", + "Abnormality of thumb phalanx", + "increased size of the mesoderm-derived structure", + "cardiac septum morphology phenotype", + "right cardiac chamber phenotype", + "cardiac septum phenotype", + "increased size of the lateral structure", + "size of cardiac ventricle phenotype", + "interventricular septum morphology phenotype", + "heart right ventricle morphology phenotype", + "cardiac ventricle phenotype", + "septum phenotype", + "incomplete closing of the cardiac septum", + "cardiac chamber morphology in the heart phenotype", + "hypertrophic cardiac ventricle", + "cardiac chamber phenotype", + "septum", + "increased size of the cardiac chamber", + "incomplete closing of the septum", + "Intrauterine growth retardation", + "decreased functionality of the multicellular anatomical structure", + "mesoderm-derived structure physiology phenotype", + "anatomical entity dysfunction in independent continuant", + "decreased nervous system process", + "decreased functionality of the organ component layer", + "Abnormality of the abdominal wall", + "organ component layer physiology phenotype", + "heart layer phenotype", + "layer of muscle tissue phenotype", + "Abnormal choanae morphology", "layer of muscle tissue", - "abnormal myocardium morphology", - "abnormal abdominal wall", + "decreased functionality of the material anatomical entity", + "Hypertrophic cardiomyopathy", + "Abnormal myocardium morphology", + "decreased multicellular organism development", + "heart layer", + "decreased functionality of the anatomical entity", + "decreased multicellular organismal process", + "incomplete closing of the trunk blood vessel", + "material anatomical entity morphology in the heart phenotype", + "systemic artery phenotype", + "blood vessel phenotype", + "nervous system process phenotype", + "incomplete closing of the coronary vessel", + "coronary vessel morphology phenotype", + "mesoderm-derived structure morphology in the heart phenotype", + "incomplete closing of the heart blood vessel", + "incomplete closing of the systemic artery", + "incomplete closing of the ductus arteriosus", "embryonic cardiovascular system", - "heart vasculature", - "response to stimulus", - "ductus arteriosus", - "abnormal number of anatomical enitites of type myeloid cell", - "thoracic segment blood vessel", - "coronary vessel", - "abnormal coronary vessel morphology", "aplasia or hypoplasia of mandible", "trunk blood vessel", - "abnormal incomplete closing of the ductus arteriosus", + "trunk blood vessel phenotype", "vasculature of organ", - "abnormal female reproductive organ morphology", - "abnormally decreased functionality of the anatomical entity", "vasculature of trunk", "heart blood vessel", + "vessel phenotype", + "arterial blood vessel phenotype", + "heart vasculature", + "sensory perception of sound phenotype", + "response to stimulus", + "ductus arteriosus", + "incomplete closing of the artery", + "incomplete closing of the thoracic segment blood vessel", + "thoracic segment blood vessel", + "myeloid cell", + "incomplete closing of the blood vessel", + "anatomical entity morphology in the heart phenotype", "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", - "aorta", + "anatomical structure morphology in the heart phenotype", + "hematopoietic cell", + "semi-lunar valve", + "neuromuscular process phenotype", + "heart", + "aortic valve morphology phenotype", + "platelet phenotype", + "Abnormal heart morphology", + "Abnormal heart valve morphology", + "semi-lunar valve morphology phenotype", + "heart morphology phenotype", + "internal ear", + "heart left ventricle", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "cardiac valve", "bone of jaw", "aortic system", + "aortic valve", + "thoracic cavity blood vessel", "great vessel of heart", "Abnormal aortic morphology", - "shape longitudinal arch of pes", - "flattened anatomical entity", + "aorta morphology phenotype", + "decreased functionality of the anatomical structure", + "great vessel of heart morphology phenotype", + "aorta", + "decreased number of material anatomical entity in the multicellular organism", "longitudinal arch of pes", - "flattened anatomical entity in independent continuant", "Pes planus", "flat anatomical entity", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "trunk region element physiology phenotype", "Toe syndactyly", - "abnormally fused anatomical entity and pedal digit", - "abnormal shape of frontal cortex", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal head bone morphology", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", + "fused anatomical entity and pedal digit", + "incomplete closing of the anatomical wall", + "pedal digit phenotype", + "anatomical entity morphology in the pelvic complex phenotype", + "platelet", + "Growth abnormality", + "multicellular organism mass phenotype", + "growth", + "radius bone", + "growth phenotype", + "Weight loss", + "obsolete cell", + "material anatomical entity mass phenotype", + "Decreased body weight", + "Abnormality of body weight", + "incomplete closing of the arterial blood vessel", + "decreased material anatomical entity mass", + "anatomical structure mass phenotype", + "decreased multicellular anatomical structure mass", + "Abnormal calvaria morphology", + "frontal cortex morphology phenotype", + "neurocranium morphology phenotype", + "olfactory system morphology phenotype", + "cranium morphology phenotype", "Puberty and gonadal disorders", "central nervous system cell part cluster", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", "lobe of cerebral hemisphere", - "cerebral hemisphere", - "manual digit 1 plus metapodial segment", - "abnormal cerebral hemisphere morphology", - "vault of skull", - "female reproductive system", - "dermal skeleton", + "shape of frontal cortex phenotype", "primary subdivision of skull", - "primary subdivision of cranial skeletal system", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", - "Hearing impairment", - "abnormal neurocranium morphology", + "cranium", + "frontal cortex", "gray matter", "dermal bone", "aplasia or hypoplasia of skull", "frontal lobe", "pallium", - "abnormal vault of skull", - "Abnormality of the forehead", + "prominent forehead", + "brain gray matter phenotype", "forehead", - "abnormal frontal cortex morphology", "tetrapod frontal bone", + "neurocranium bone", + "gray matter of forebrain phenotype", + "decreased number of cell", + "gray matter phenotype", + "cortex of cerebral lobe", + "primary subdivision of cranial skeletal system", + "vault of skull", + "cardiovascular system physiology phenotype", + "prominent anatomical entity", "neurocranium", - "abnormal great vessel of heart morphology", - "frontal cortex", - "abnormal forehead", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", - "abnormal anus", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "skeleton of lower jaw", - "abnormal small intestine", - "abnormal nose morphology", - "abnormal eyelid morphology", - "manus", - "dermatocranium", - "Abnormal axial skeleton morphology", - "neural tube", - "presumptive structure", - "vertebra", - "abnormal ileum morphology", - "neural tube closure", - "cranium", - "trunk bone", - "Aplasia/hypoplasia involving bones of the extremities", - "entire sense organ system", - "abnormal response to stimulus", - "embryo development ending in birth or egg hatching", - "vertebral column", - "Abnormality of the vasculature", - "Vertebral arch anomaly", - "face", - "aplasia or hypoplasia of manual digit", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "abnormal neural tube morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal heart valve morphology", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", - "abnormal vertebral column", - "abnormal spinal cord morphology", - "Aganglionic megacolon", - "tube formation", - "anatomical structure formation involved in morphogenesis", - "abnormal aortic valve morphology", - "Abnormality of the inner ear", - "abnormal vertebral column morphology", - "abnormal common carotid artery plus branches morphology", - "Abnormal anus morphology", - "abnormal anatomical entity mass density", - "abnormal systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "epithelium development", - "abnormal head", - "artery", - "jaw region", - "arterial system", - "Decreased bone element mass density", - "Abnormal cranial nerve physiology", - "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "Clubbing", - "Spinal dysraphism", - "decreased qualitatively pigmentation", - "decreased multicellular organism mass", - "innominate bone", - "Frontal bossing", - "nerve", - "gray matter of forebrain", + "bone of craniocervical region", + "cranial bone", + "intramembranous bone", + "membrane bone", "heart plus pericardium", - "Abnormality of the orbital region", - "roof of mouth", - "Pulmonic stenosis", - "Abnormal peripheral nervous system morphology", - "Atypical behavior", - "Abnormal upper limb bone morphology", - "chemosensory system", - "abnormally decreased number of anatomical entity", - "paralysed cranial nerve", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "neural tube formation", - "postcranial axial skeletal system", - "Clubbing of toes", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "skeletal system", - "curved anatomical entity in independent continuant", - "hindlimb skeleton", - "endochondral bone", - "subdivision of skeleton", - "appendage girdle complex", - "subdivision of head", - "ulna endochondral element", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "Abnormal morphology of ulna", - "pectoral appendage", - "deviation of manual digit 5 towards the middle", - "abnormal opening of the anatomical entity", - "bone element", - "Abnormality of limbs", - "abnormal number of anatomical enitites of type platelet", - "abnormal forelimb zeugopod morphology", - "Abnormal forebrain morphology", - "paired limb/fin", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "septum", - "Abnormality of limb bone morphology", - "developing anatomical structure", - "skeleton of limb", - "forelimb zeugopod skeleton", - "prepuce", - "subdivision of oviduct", - "limb bone", - "pectoral appendage skeleton", - "Abnormal forearm bone morphology", - "morphogenesis of an epithelium", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "abnormal digestive system morphology", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "spinal cord", - "appendicular skeleton", - "zeugopod", - "skeletal element", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Abnormal long bone morphology", - "absent sperm in the semen", - "vasculature", - "Spina bifida", - "circulatory system", - "embryonic morphogenesis", - "abnormal liver", - "Abnormal blood vessel morphology", - "decreased pigmentation in independent continuant", - "tissue development", - "venous blood vessel", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal blood vessel morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal embryo morphology", - "Abnormal venous morphology", - "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "cortex of cerebral lobe", - "abnormal vascular system morphology", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", - "cardiovascular system", - "blood vasculature", - "tube development", - "acropodium region", - "blood vessel", - "germ cell", - "outflow tract", - "abnormal vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", - "penis", - "Orofacial cleft", - "digestive system element", - "intromittent organ", - "vein", - "multi cell part structure", - "abnormal prepuce of penis morphology", - "myocardium", - "external ear", - "abnormal telencephalon morphology", - "Abnormal jaw morphology", - "Meckel diverticulum", - "irregular bone", - "organism", - "secondary palate", - "autopod bone", - "Neurodevelopmental abnormality", - "manual digit phalanx endochondral element", - "Abnormality of the immune system", - "abnormal skin of head morphology", - "abnormal neural tube closure", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "nervous system process", - "skeleton of digitopodium", - "Abnormal preputium morphology", - "forelimb bone", - "Abnormal uvula morphology", - "abnormal central nervous system morphology", - "ventricular system of central nervous system", - "Abnormal shape of the frontal region", - "central nervous system", - "abnormal arm", - "Abnormality of limb bone", - "autopod endochondral element", - "cognition", - "ventricular system of brain", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", - "decreased length of forelimb zeugopod bone", - "abnormally increased number of anatomical entity", - "Facial asymmetry", - "Abnormal leukocyte count", - "anatomical entity dysfunction in independent continuant", - "abnormal brain morphology", - "abnormal heart layer morphology", - "Abnormal frontal bone morphology", - "Abnormality of lower limb joint", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "cerebrospinal fluid", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", - "Hydrocephalus", - "Neural tube defect", - "organ system subdivision", - "abnormal nervous system morphology", - "forelimb zeugopod bone", - "Abnormal toe phalanx morphology", - "arch of centrum of vertebra", - "abnormality of internal male genitalia physiology", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal nervous system", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "Abnormal nervous system morphology", - "sense organ", - "material entity", - "increased reflex", - "long bone", - "internal male genitalia", - "curved anatomical entity", - "digestive system", - "decreased length of long bone", - "abnormal anatomical entity morphology in the brain", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "anatomical line between pupils", - "abnormal neocortex morphology", - "decreased biological_process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal heart morphology", - "appendage girdle region", - "dorsum", - "cranial nerve", - "testis", - "anatomical system", - "upper digestive tract", - "Small intestinal stenosis", - "male gamete generation", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "Abnormality of blood and blood-forming tissues", - "abnormality of multicellular organism height", - "abnormal limb morphology", - "upper urinary tract", - "right cardiac chamber", - "manual digitopodium region", - "abnormal enteric nervous system morphology", - "Abnormality of male external genitalia", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal voluntary movement behavior", - "tissue", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "abnormal amniotic fluid", - "system process", - "male gamete", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "embryo", - "Absent testis", - "abnormal limb bone", + "gray matter of forebrain", + "anus", + "closing of the multicellular anatomical structure", + "material anatomical entity atresia", + "jaw skeleton morphology phenotype", + "multicellular anatomical structure atresia", + "closing of the anatomical structure", + "anus morphology phenotype", + "bone marrow", + "anus atresia", + "anus phenotype", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "closing of the ectoderm-derived structure", + "Abnormal ileum morphology", + "parasympathetic nervous system", + "large intestine morphology phenotype", + "autonomic nervous system", + "Abnormal peripheral nervous system ganglion morphology", + "Abnormal autonomic nervous system morphology", + "ganglion of peripheral nervous system", + "Abnormal large intestine morphology", + "interatrial septum morphology phenotype", + "Abnormality of the autonomic nervous system", + "haemolymphatic fluid", + "ganglion morphology phenotype", + "enteric nervous system", + "Aganglionic megacolon", + "enteric ganglion", + "Megacolon", + "lower digestive tract", + "Abnormal ganglion morphology", + "stylopod", + "late embryo phenotype", + "valve", + "Abnormal femur morphology", + "decreased qualitatively pigmentation", + "increased length of the head or neck skin", + "innominate bone", + "hip joint morphology phenotype", + "Aplasia/Hypoplasia of the radius", + "protruding anatomical entity", + "Abnormal pelvic girdle bone morphology", + "pelvic region of trunk", + "hip", + "appendage girdle region", + "girdle skeleton", + "trunk bone", + "Lower extremity joint dislocation", + "Abnormal hip bone morphology", + "skeletal joint morphology phenotype", + "heart layer morphology phenotype", + "hip dislocation", + "skeletal joint phenotype", + "synovial joint morphology phenotype", + "girdle bone/zone", + "decreased number of material anatomical entity", + "articular system", + "Hip dislocation", + "outflow part of left ventricle morphology phenotype", + "vertebral column", + "tube closure phenotype", + "ileum", + "embryonic tissue", + "forehead phenotype", + "neural tube closure", + "dermatocranium", + "Abnormal axial skeleton morphology", + "Vertebral arch anomaly", + "increased number of brain ventricle in the cerebrospinal fluid", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "incomplete closing of the material anatomical entity", "anatomical structure morphogenesis", - "Aplasia/Hypoplasia affecting the uvea", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "vessel", - "lateral structure", - "abnormal blood cell morphology", - "abnormal cell", - "male reproductive organ", - "disconnected anatomical group", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "Anal atresia", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "anterior region of body", - "Abnormality of the upper limb", - "entity", - "Decreased anatomical entity mass", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "All", - "Abnormal bone structure", - "system development", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "manual digit", - "abnormal reproductive process", - "abnormal shape of continuant", - "pulmonary valve", - "cellular organisms", - "vertebral element", - "viscus", - "bone of free limb or fin", - "abnormal pedal digit morphology", - "abnormal ear", - "Abnormal external genitalia", - "material anatomical entity", - "abnormal internal naris", - "Cranial nerve paralysis", + "Abnormal ear physiology", + "ecto-epithelium", + "Abnormality of the vasculature", + "incomplete closing of the anatomical entity", + "postcranial axial skeleton", + "localised multicellular anatomical structure", + "anatomical structure formation involved in morphogenesis", + "tube formation", + "eyelid morphology phenotype", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "incomplete closing of the vessel", + "presumptive structure", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "entire sense organ system", + "formed organ part", + "bony vertebral centrum", + "cranial neuron projection bundle", + "Clubbing", + "head bone", + "shape digit", + "peripheral nervous system morphology phenotype", + "Abnormal spinal cord morphology", + "nerve phenotype", "developmental process", - "abnormal ureter", - "absent anatomical entity in the independent continuant", + "increased size of the heart right ventricle", + "nervous system morphology phenotype", + "ectoderm-derived structure physiology phenotype", "manual digit 1 or 5", "abdominal segment bone", - "gonad", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "ganglion", - "sensory system", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "absent sperm in the independent continuant", - "pelvic region element", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "abnormal internal genitalia", - "ocular surface region", - "internal genitalia", + "Cranial nerve paralysis", + "increased number of multicellular anatomical structure", + "Spinal dysraphism", + "Frontal bossing", + "nerve", + "esophagus morphology phenotype", + "cranial nerve", + "internal naris atresia", + "musculature of body", + "nerve of head region", + "phenotype", + "anatomical space", + "pelvic appendage", + "body part movement", + "cranial nerve phenotype", + "artery phenotype", + "autopodial extension", + "Abnormal cranial nerve physiology", + "appendage girdle complex", + "Abnormal limb bone morphology", + "reproductive process", + "kidney phenotype", + "limb morphology phenotype", + "cognition", + "leukocyte morphology phenotype", + "skeletal element phenotype", + "nerve of head region phenotype", + "decreased functionality of the myocardium", + "limb bone phenotype", + "face", + "multicellular anatomical structure mass phenotype", + "aplasia or hypoplasia of manual digit", + "bone of pectoral complex morphology phenotype", + "increased number of brain ventricle/choroid plexus", + "vertebral column phenotype", + "Hernia of the abdominal wall", + "autopodial extension phenotype", + "Abnormal forearm bone morphology", + "forelimb zeugopod morphology phenotype", + "limb skeleton subdivision", + "femur", + "skull", + "cerebral hemisphere", + "bone of pectoral complex phenotype", + "vault of skull phenotype", + "epithelium development", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "cerebral hemisphere gray matter", + "skin of body", + "Abnormal peripheral nervous system morphology", + "arm bone phenotype", + "olfactory organ phenotype", + "multi-limb segment region phenotype", + "Nystagmus", + "esophagus", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "endochondral element phenotype", + "forelimb bone phenotype", + "bone element", + "decreased reproductive process", + "skeletal element", + "zeugopod", + "system development", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "bony vertebral centrum morphology phenotype", + "Abnormality of the upper limb", + "reproductive system morphology phenotype", + "olfactory system", + "Neoplasm by anatomical site", "limb", + "increased size of the material anatomical entity", "respiratory system", "hip joint", - "cell", - "abnormal interventricular septum morphology", - "Abnormality of the mouth", - "abnormal ductus arteriosus morphology", - "Finger syndactyly", - "abnormal peripheral nervous system morphology", - "bodily fluid", - "multi-tissue structure", - "abnormal ear morphology", - "abnormal number of anatomical enitites of type sperm", - "hepatobiliary system", - "subdivision of skeletal system", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "dorsal region element", - "Abnormality of the cardiovascular system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "exocrine system", - "Abnormality of the genitourinary system", - "shape digit", - "head bone", - "absent germ cell", - "Abnormal heart valve physiology", - "changed biological_process rate", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal systemic arterial morphology", - "spermatogenesis", - "abnormal shape of palpebral fissure", - "delayed biological_process", - "systemic artery", - "developmental process involved in reproduction", - "Abnormality of the nose", - "organism substance", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "neural tube development", - "external genitalia", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "hematopoietic system", - "multicellular anatomical structure", - "abnormal leukocyte morphology", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormal heart morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "Abnormal spinal cord morphology", + "Small intestinal stenosis", + "flat longitudinal arch of pes", + "neuron projection bundle phenotype", + "Abnormal morphology of ulna", + "multicellular organismal reproductive process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "pectoral appendage skeleton", + "alimentary part of gastrointestinal system phenotype", + "ulna endochondral element", + "localised gonad", + "paired limb/fin", + "incomplete closing of the skeletal element", + "absent sperm", + "subdivision of skeleton", + "shape of forehead phenotype", + "endochondral bone", + "decreased number of anatomical entity", + "Abnormal forebrain morphology", + "Abnormal forearm morphology", + "vertebra", + "multicellular organism height phenotype", + "forelimb long bone", + "vertebral element", + "pelvic region element phenotype", + "viscus", + "reproductive organ phenotype", + "decreased size of the skeletal element", + "bone of free limb or fin", + "arch of centrum of vertebra phenotype", + "limb endochondral element", + "neural tube formation", "neuron projection bundle", - "Abnormal esophagus morphology", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "abnormal bone element mass density", - "main body axis", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal cardiac atrium morphology in the heart", - "morphogenesis of embryonic epithelium", - "haploid cell", - "conceptus", - "abnormal vertebra morphology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "epithelial tube morphogenesis", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "abnormal male reproductive organ morphology", - "occurrent", - "pedal digit phalanx endochondral element", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormal small intestine morphology", - "Azoospermia", - "platelet", - "Growth abnormality", - "hip", - "primary neural tube formation", - "renal pelvis/ureter", - "male urethral meatus", - "reproductive organ", - "anus atresia", - "abnormal skull morphology", - "Short long bone", - "Ventricular septal defect", - "small intestine", - "subdivision of organism along main body axis", - "prominent forehead", - "abnormal incomplete closing of the arch of centrum of vertebra", - "segment of manus", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "aplasia or hypoplasia of anatomical entity", - "limb long bone", + "digestive system gland phenotype", + "increased length of the skin of eyelid", + "internal male genitalia phenotype", + "Abnormal appendicular skeleton morphology", + "paired limb/fin phenotype", + "Abnormal internal genitalia", + "localised testis", + "decreased qualitatively sensory perception of light stimulus", + "forelimb morphology phenotype", + "Myelodysplasia", + "Abnormal blood vessel morphology", + "parasympathetic ganglion", + "formed ectoderm-derived structure", + "decreased size of the arm bone", + "cardiovascular system phenotype", + "anatomical cluster phenotype", + "blood", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "Functional abnormality of male internal genitalia", + "acropodium region", + "coronary vessel", + "cranial nerve physiology phenotype", + "ventricle of nervous system", + "paralysed anatomical entity", + "multi-limb segment region", + "blood vessel", "compound organ", "eye", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "external male genitalia", - "Hypogonadism", - "urethral opening", - "arm bone", - "Abnormal reflex", - "hindlimb joint", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Short palpebral fissure", - "Abnormal skeletal morphology", - "increased pigmentation", - "skeleton of pectoral complex", - "specifically dependent continuant", - "abnormal autonomic nervous system morphology", - "ganglion of peripheral nervous system", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", - "Abnormal ear physiology", - "ecto-epithelium", - "abnormal closing of the anatomical entity", - "reproductive structure", - "tunica fibrosa of eyeball", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "upper limb segment", - "biological_process", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", + "venous system", + "outflow tract", + "germ cell", + "Abnormal long bone morphology", + "vasculature", + "upper urinary tract phenotype", + "Abnormal jaw morphology", + "Meckel diverticulum", + "irregular bone", + "organism", + "secondary palate", + "male reproductive organ morphology phenotype", + "skeleton of digitopodium", + "myeloid cell homeostasis", + "glans penis", + "synovial joint of pelvic girdle morphology phenotype", + "Abnormal preputium morphology", + "penis morphology phenotype", + "immune system phenotype", + "digit phenotype", + "mouth phenotype", + "Abnormality of limbs", + "craniocervical region phenotype", + "cornea morphology phenotype", "leg bone", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "absent gamete", - "naris", - "iris", - "abnormal number of anatomical enitites of type anatomical entity", - "organ", - "pedal digit plus metapodial segment", - "reproduction", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "Abnormality of the peripheral nervous system", - "trunk region element", - "cerebral cortex", - "tracheobronchial tree", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "abnormal synovial joint morphology", - "reproductive system", - "multi-limb segment region", - "ventricle of nervous system", - "paralysed anatomical entity", - "pelvic appendage", - "abnormal eyeball of camera-type eye", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "body proper", - "abnormal respiratory tube morphology", - "Abnormal morphology of female internal genitalia", - "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", + "Abnormal skin morphology", + "multi-tissue structure phenotype", + "opaque anatomical entity", + "decreased anatomical structure mass", + "forelimb zeugopod bone phenotype", + "pigmentation", + "developing anatomical structure", + "skeleton of limb", + "Abnormality of skin pigmentation", + "female reproductive system", + "dermal skeleton", + "phenotypic effect", + "aplasia or hypoplasia of iris", + "pigmentation phenotype", + "heart left ventricle morphology phenotype", + "individual digit of digitopodial skeleton", + "Umbilical hernia", + "Arteriovenous malformation", + "increased size of the multi-tissue structure", + "head bone morphology phenotype", + "Abnormal eye morphology", + "incomplete closing of the secondary palate", + "increased length of the material anatomical entity", + "subdivision of skeletal system phenotype", + "integument", + "Abnormal connection of the cardiac segments", + "leg phenotype", + "cardiac atrium", + "Abnormality of the integument", + "genitourinary system phenotype", + "Abnormality of the forehead", + "mouth morphology phenotype", + "multicellular organismal process", + "bone of pelvic complex", + "system process", + "sensory perception", + "number of anatomical enitites of type anatomical entity phenotype", + "Neurodevelopmental abnormality", + "nervous system physiology phenotype", "process", - "vestibulo-auditory system", - "anterior uvea", - "abnormality of camera-type eye physiology", - "organism subdivision", - "Dolichocephaly", - "common carotid artery plus branches", - "drooping eyelid", - "Abnormal cardiac ventricle morphology", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", + "Abnormal shape of the frontal region", + "central nervous system", + "Abnormality of limb bone", + "autopod endochondral element", + "shape anatomical entity", + "mandible phenotype", + "autonomic ganglion", + "axial skeletal system", + "brain", + "ventricular system of central nervous system", + "neural crest-derived structure, curved phenotype", + "number of anatomical enitites of type organ part phenotype", + "musculature phenotype", + "reproductive system physiology phenotype", + "myeloid cell differentiation", + "increased number of organ part", + "decreased biological_process in skin of body", + "alimentary part of gastrointestinal system morphology phenotype", + "eyeball of camera-type eye", + "decreased length of forelimb zeugopod bone", + "digit 1 plus metapodial segment", + "Abnormality of the anus", + "cerebrospinal fluid morphology phenotype", + "synovial joint", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "increased number of anatomical entity in the cerebrospinal fluid", + "facial bone", + "increased number of brain ventricle", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "size of heart right ventricle phenotype", + "Abnormality of the urinary system", + "incomplete closing of the neural crest-derived structure", + "Abnormal cerebrospinal fluid morphology", "external soft tissue zone", + "Abnormal mandible morphology", + "skeletal system phenotype", + "male gamete generation phenotype", "digit plus metapodial segment", "head", - "abnormal reproductive system", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "ileum", - "embryonic tissue", - "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "Syndactyly", - "abnormal head morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Sloping forehead", - "abnormal manual digit 5 morphology", - "non-connected functional system", - "digestive tract", - "subdivision of digestive tract", - "Abnormal pinna morphology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "abnormality of cranial nerve physiology", - "independent continuant", - "abnormal pigmentation", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "Abnormal ear morphology", + "internal genitalia phenotype", + "bone of appendage girdle complex phenotype", + "Abnormal esophagus morphology", + "increased number of anatomical structure in the cerebrospinal fluid", + "organism subdivision", + "multicellular organismal-level homeostasis", + "chordate embryonic development", + "anterior segment of eyeball", "Abnormal morphology of the great vessels", "pectoral complex", - "venous system", - "musculoskeletal movement", - "decreased qualitatively biological_process", - "anatomical entity", - "abnormal trachea morphology", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "behavior process", - "anterior chamber of eyeball", - "abnormal development of anatomical entity", - "increased biological_process", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "embryonic epithelial tube formation", - "respiratory airway", - "abnormal secondary palate morphology", - "subdivision of tube", - "Abnormal respiratory system morphology", - "Abnormal lens morphology", - "Multiple cafe-au-lait spots", - "system", - "transparent eye structure", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", + "Abnormality of the peripheral nervous system", + "trunk region element", "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", + "lateral structure", + "Orofacial cleft", + "digestive system element", + "Abnormal digestive system morphology", + "Tracheoesophageal fistula", + "spinal cord morphology phenotype", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "nervous system process", + "limb bone morphology phenotype", + "Aplasia/Hypoplasia affecting the eye", + "Abnormal gastrointestinal tract morphology", + "embryonic morphogenesis", + "phalanx of pes morphology phenotype", + "body proper", + "opening of the anatomical entity", + "cell phenotype", + "tracheobronchial tree morphology phenotype", + "subdivision of organism along main body axis phenotype", + "tunica fibrosa of eyeball", + "anatomical structure physiology phenotype", + "mesoderm-derived structure phenotype", + "appendage", + "Abnormal facial shape", + "location of anatomical entity phenotype", + "tube morphogenesis", + "camera-type eye morphology phenotype", "brain gray matter", "embryo development", "Abnormal tracheobronchial morphology", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormal postcranial axial skeleton morphology", - "multicellular organismal-level homeostasis", - "chordate embryonic development", - "anterior segment of eyeball", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal palpebral fissure", - "abnormal tube formation", - "thoracic segment of trunk", - "pes bone", - "abnormal bone of pelvic complex morphology", - "arm", + "eukaryotic cell", + "Abnormal brain morphology", + "size of brain ventricle phenotype", + "limb phenotype", + "Abnormal anterior eye segment morphology", + "organ subunit", + "absent sperm in the semen", + "increased number of material anatomical entity in the cerebrospinal fluid", + "connective tissue phenotype", + "increased biological_process", + "digestive tract", + "face morphology phenotype", + "Abnormal external genitalia", + "arm phenotype", + "digestive system phenotype", + "Abnormal respiratory system physiology", + "reproductive structure physiology phenotype", "Short stature", "Abnormality of the vertebral column", - "abnormal digestive system", - "flat longitudinal arch of pes", - "abnormal bone of pectoral complex morphology", - "orifice", - "craniocervical region", - "abnormal developmental process", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", - "Nystagmus", - "esophagus", + "reproductive organ physiology phenotype", + "anatomical structure formation involved in morphogenesis phenotype", + "male reproductive organ", + "sensory perception of mechanical stimulus phenotype", + "internal naris phenotype", + "disconnected anatomical group", + "cerebral cortex", + "tracheobronchial tree", + "decreased size of the forelimb bone", + "tube development", + "multicellular anatomical structure phenotype", + "Abnormal toe morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "Abnormality of the urethra", + "immaterial entity", + "Abnormal systemic arterial morphology", + "renal system", + "peripheral nervous system", + "Abnormal anterior chamber morphology", + "zeugopodial skeleton", + "head morphology phenotype", + "forelimb skeleton", + "immune system", + "endocrine system", + "sense organ physiology phenotype", + "ear physiology phenotype", + "uterus morphology phenotype", + "Abnormal neural tube morphology", + "Abnormal enteric ganglion morphology", + "excretory system", + "craniocervical region morphology phenotype", + "tube", + "increased number of ventricle of nervous system", + "male reproductive system", + "forelimb endochondral element", "physiologic nystagmus", "hemolymphoid system", - "Lower extremity joint dislocation", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "Hip dislocation", + "organ subunit phenotype", + "respiratory tract", + "amniotic fluid phenotype", + "respiratory tube", + "glans", + "erythrocyte", + "anatomical entity physiology phenotype", + "developmental process phenotype", + "limb endochondral element phenotype", + "blood vasculature", + "ectoderm-derived structure, asymmetrically curved phenotype", + "increased reflex", + "long bone", + "material entity", + "cardiovascular system", + "number of sperm phenotype", + "skin of body phenotype", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "decreased length of limb bone", + "structure with developmental contribution from neural crest", + "intromittent organ phenotype", + "Abnormal cerebral ventricle morphology", + "pelvic girdle bone/zone morphology phenotype", + "Neural tube defect", + "prepuce", + "decreased male gamete generation", + "organ system subdivision", + "Syndactyly", + "skeletal system morphology phenotype", + "increased number of ventricle of nervous system in the cerebrospinal fluid", + "Abnormal peripheral nerve morphology by anatomical site", + "independent continuant", + "anatomical line between pupils", + "reproductive system", + "thoracic cavity element", "skeleton", "multicellular organism", - "thoracic cavity element", - "Abnormal penis morphology", + "Abnormality of the orbital region", + "decreased size of the limb endochondral element", + "roof of mouth", + "neural tube development", + "external genitalia", + "camera-type eye", + "decreased number of myeloid cell", + "Abnormality of mental function", + "external male genitalia phenotype", + "increased number of organ component layer in the cerebrospinal fluid", + "forelimb zeugopod bone", + "head phenotype", + "vascular system morphology phenotype", + "Abnormal digit morphology", + "penis phenotype", + "structure with developmental contribution from neural crest physiology phenotype", + "bone of pectoral complex", + "decreased length of anatomical entity", + "anatomical entity mass phenotype", + "Decreased anatomical entity mass", + "entity", + "Abnormal form of the vertebral bodies", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "gray matter of telencephalon", + "urethral meatus", + "dorsal region element", + "Abnormality of the cardiovascular system", + "central nervous system gray matter layer", + "pedal digit bone", + "increased length of the non-material anatomical boundary", + "chamber of eyeball", + "Clinodactyly", + "palatine uvula", + "reproductive structure phenotype", + "quality", + "central nervous system cell part cluster phenotype", + "anatomical collection phenotype", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Abnormal leukocyte morphology", + "axial skeleton plus cranial skeleton", + "increased length of the skin of face", + "decreased size of the limb bone", + "central nervous system morphology phenotype", + "shape of external ear phenotype", + "anatomical conduit phenotype", + "skeleton of lower jaw", + "common carotid artery plus branches morphology phenotype", + "eyelid", + "endochondral bone phenotype", + "Abnormality of the ear", + "decreased qualitatively developmental process involved in reproduction", + "Abnormal male urethral meatus morphology", + "reproductive structure", + "epithelial tube", + "decreased height of the anatomical entity", + "decreased developmental process involved in reproduction", + "Abnormality of the eye", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "decreased anatomical structure development", + "anatomical structure phenotype", + "anatomical system", + "upper digestive tract", + "sense organ phenotype", + "multicellular anatomical structure morphology in the heart phenotype", + "Abnormality of reproductive system physiology", + "appendicular skeleton morphology phenotype", + "occurrent", + "pedal digit phalanx endochondral element", + "organ", + "pedal digit plus metapodial segment", + "Phenotypic abnormality", + "multicellular anatomical structure physiology phenotype", + "increased number of organ component layer", + "nervous system", + "anatomical projection phenotype", + "anatomical system physiology phenotype", + "Displacement of the urethral meatus", + "organ part physiology phenotype", + "skin of body morphology phenotype", + "voluntary musculoskeletal movement phenotype", + "brain ventricle phenotype", + "material anatomical entity", + "Abnormality of immune system physiology", + "localised anatomical entity", + "organ system subdivision phenotype", + "simple eye phenotype", + "homeostatic process phenotype", + "behavior", + "abdomen element", + "protruding eyeball of camera-type eye", + "embryonic epithelial tube formation", + "respiratory airway", + "subdivision of trunk", + "multicellular organismal movement", + "fused anatomical entity and anatomical entity", + "neural tube", + "male urethra", + "organ part", + "Decreased bone element mass density", + "material anatomical entity phenotype", + "Short palpebral fissure", + "umbilicus morphology phenotype", + "Abnormal skeletal morphology", + "increased pigmentation", + "Abnormality of the genital system", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "shape of continuant phenotype", + "deviation of digit towards the middle", + "lower urinary tract", + "Abnormality of globe location", + "jaw region", + "artery", + "telencephalon phenotype", + "curved anatomical entity", + "anatomical entity morphology phenotype", + "decreased length of long bone", + "subdivision of organism along appendicular axis", + "decreased length of endochondral element", + "Abnormal cell morphology", + "Abnormal palate morphology", + "articulation", + "cornea, curved phenotype", + "mesoderm-derived structure", + "autopod bone", + "system", + "anatomical structure, curved phenotype", + "brain morphology phenotype", + "subdivision of head", + "increased number of ectoderm-derived structure", + "musculoskeletal movement phenotype", + "anterior chamber of eyeball morphology phenotype", + "transparent eye structure", + "dentary", + "behavior process phenotype", + "femur endochondral element", + "organ component layer phenotype", + "subdivision of tube", + "Abnormality of the inner ear", + "vertebra morphology phenotype", + "Decreased fertility in males", + "taxon specific phenotype", + "anatomical structure", + "subdivision of oviduct", + "limb bone", + "subdivision of digestive tract phenotype", + "cerebral cortex morphology phenotype", + "urethra phenotype", + "Abnormality of the lower urinary tract", + "Hypogonadism", + "urethral opening", + "arm bone", + "skeleton of pectoral complex", + "specifically dependent continuant", + "decreased length of arm bone", + "increased size of the zone of skin", + "cornea phenotype", + "formed chamber of eyeball", + "Decreased head circumference", + "anatomical entity", + "localised material anatomical entity", + "ear phenotype", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "increased volume of anatomical entity", + "forelimb bone", + "Abnormal uvula morphology", + "endochondral element", + "anatomical entity hypoplasia", "Intellectual disability", - "abnormal ocular adnexa", "embryonic structure", + "endoderm-derived structure phenotype", "brain ventricle/choroid plexus", "proximo-distal subdivision of respiratory tract", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "organ subunit", - "Abnormal neural tube morphology", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of the testes", - "left cardiac chamber", - "Slanting of the palpebral fissure", - "Abnormal anterior eye segment morphology", + "Abnormal penis morphology", + "appendage phenotype", + "Hypoplastic facial bones", + "organism subdivision phenotype", + "arm", + "forelimb zeugopod skeleton", + "male reproductive organ phenotype", + "ocular surface region", + "thoracic segment of trunk", + "bone of jaw phenotype", + "number of anatomical enitites of type material anatomical entity phenotype", + "tetrapod frontal bone morphology phenotype", + "pes bone", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "Abnormality of the respiratory system", + "segment of autopod", + "ductus arteriosus morphology phenotype", + "increased pigmentation in skin of body", + "cranial neuron projection bundle phenotype", + "Abnormal male reproductive system physiology", + "reproductive organ", + "Abnormality of the digestive system", + "anatomical structure development", + "arterial blood vessel", + "decreased spermatogenesis", + "limb segment", + "external genitalia phenotype", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "size of palpebral fissure phenotype", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "Abnormal curvature of the vertebral column", + "multi cell part structure phenotype", + "ureter phenotype", + "hematopoietic system", + "multicellular anatomical structure", + "reproductive system phenotype", + "hindlimb endochondral element", + "ventricular system of brain", + "innominate bone morphology phenotype", + "eye phenotype", + "structure with developmental contribution from neural crest phenotype", + "Abnormal vertebral morphology", + "Abnormal male external genitalia morphology", + "localised reproductive organ", + "glandular system", + "myocardium", + "external ear", + "decreased length of bone of appendage girdle complex", + "bone of appendage girdle complex", + "anatomical wall", + "closing of the material anatomical entity", + "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid", + "sensory system", + "Scoliosis", + "multicellular anatomical structure, curved phenotype", + "Almond-shaped palpebral fissure", + "response to stimulus phenotype", + "Abdominal wall defect", + "material anatomical entity physiology phenotype", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "cerebrospinal fluid", + "main body axis", + "tissue development", + "venous blood vessel", + "camera-type eye phenotype", + "physiologic nystagmus phenotype", + "increased size of the immaterial anatomical entity", + "manus", + "chemosensory system", + "organ physiology phenotype", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "renal system phenotype", + "bone marrow cell", + "multicellular organism phenotype", + "upper limb segment", + "biological_process", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "camera-type eye physiology phenotype", + "blood vessel morphology phenotype", + "zone of skin morphology phenotype", + "ganglion", + "subdivision of head phenotype", + "Abnormality of the curvature of the cornea", + "cell", + "Abnormality of the mouth", + "Finger syndactyly", + "lower respiratory tract", + "visual system", + "uvea morphology phenotype", + "bone of craniocervical region phenotype", + "structure with developmental contribution from neural crest, curved phenotype", + "renal system physiology phenotype", + "multicellular organism morphology phenotype", + "anatomical structure, asymmetrically curved phenotype", + "Hypermelanotic macule", + "simple eye", + "Abnormality of the skeletal system", + "zone of organ phenotype", + "trachea", + "Deviation of finger", + "subdivision of digestive tract", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "number of anatomical enitites of type organ component layer phenotype", + "Abnormal lens morphology", + "simple eye physiology phenotype", + "Anal atresia", + "anatomical conduit", + "Abnormality of the head", + "Abnormal enteric nervous system morphology", + "future central nervous system", + "absent anatomical structure in the multicellular organism", + "craniofacial/craniocervical phenotype", + "fused pedal digit and pedal digit", + "ocular surface region morphology phenotype", + "decreased length of anatomical structure", "cornea", "abdominal wall", "3-D shape anatomical entity", + "external male genitalia", + "brain ventricle/choroid plexus morphology phenotype", + "orifice", "shape cornea", - "lower respiratory tract", - "visual system", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "Abnormality of the ear", - "eyelid", - "abnormally decreased number of leukocyte", + "multicellular organism development phenotype", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal vascular morphology", + "Abnormality of skull size", + "decreased length of bone of pectoral complex", + "ventricle of nervous system phenotype", + "increased number of anatomical structure", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormality of body height", + "decreased size of the mesoderm-derived structure", + "neural crest-derived structure, asymmetrically curved phenotype", + "non-material anatomical boundary", + "Abnormality of head or neck", + "cardiac chamber", + "eye physiology phenotype", + "lower urinary tract phenotype", + "non-connected functional system", + "increased number of anatomical entity", + "increased height of the neural crest-derived structure", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "anatomical system phenotype", + "incomplete closing of the abdominal wall", + "Clinodactyly of the 5th finger", + "sense organ", "orbital region", - "abnormal alimentary part of gastrointestinal system", - "Abnormal carotid artery morphology", - "Astigmatism", + "hypertrophic heart right ventricle", + "vasculature phenotype", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "anterior segment of eyeball morphology phenotype", + "face phenotype", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "curvature anatomical entity", + "increased number of material anatomical entity", + "skeletal system", + "hindlimb skeleton", + "protein-containing material entity", + "anatomical entity phenotype", + "gamete generation", + "organ part phenotype", + "male organism", + "fused pedal digit and anatomical entity", + "Irregular hyperpigmentation", + "lateral structure phenotype", "pelvic girdle region", "paired limb/fin segment", "multicellular organism development", "Ventriculomegaly", - "abnormal posterior nasal aperture morphology", - "curvature anatomical entity", - "abnormal camera-type eye morphology", - "abnormal orbital region", - "abnormal bony vertebral centrum morphology", - "simple eye", - "anus", - "Abnormal skull morphology", - "sensory perception", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Weight loss", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "growth", - "cardiac valve", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Decreased body weight", - "autopodial extension", - "abnormal forelimb zeugopod bone", - "valve", - "endochondral element", - "anatomical entity hypoplasia", - "abnormal cardiac ventricle morphology", - "motile cell", - "abnormal leg", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "internal ear", - "heart left ventricle", - "epithelium", - "autopodial skeleton", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "Opisthokonta", - "Abnormality of digestive system morphology", - "Abnormality of the ocular adnexa", + "urethra", + "thoracic segment organ", + "Astigmatism", + "Abnormal carotid artery morphology", + "anterior region of body", + "Abnormal reproductive system morphology", + "lateral structure physiology phenotype", + "synovial joint of pelvic girdle", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "upper leg bone", + "multicellular anatomical structure, asymmetrically curved phenotype", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "asymmetrically curved cornea", + "decreased qualitatively reproductive process", + "dermal skeletal element phenotype", + "neural crest-derived structure", + "incomplete closing of the interatrial septum", + "epithelial tube formation", + "digestive system element phenotype", + "brain ventricle morphology phenotype", + "Abnormal umbilicus morphology", + "increased number of organ part in the cerebrospinal fluid", + "Abnormal joint morphology", + "transudate", + "increased number of ectoderm-derived structure in the cerebrospinal fluid", + "multi cell part structure", + "vein", + "limb long bone morphology phenotype", + "bodily fluid", + "multi-tissue structure", + "facial skeleton morphology phenotype", + "limb long bone phenotype", + "All", + "Abnormal bone structure", + "naris phenotype", + "lens of camera-type eye morphology phenotype", + "nervous system phenotype", + "postcranial axial skeletal system", + "Clubbing of toes", + "arterial system", + "bone of pelvic complex morphology phenotype", + "kidney morphology phenotype", + "dorsum", + "nervous system development", + "tube formation phenotype", + "peripheral nervous system phenotype", + "tissue", + "cell differentiation", + "forelimb zeugopod bone morphology phenotype", + "brain ventricle", + "future nervous system", + "regional part of nervous system phenotype", + "Reduced bone mineral density", + "circulatory system", + "Spina bifida", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "appendicular skeleton", + "spinal cord", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "manual digit 1 phalanx", + "orifice phenotype", + "neocortex morphology phenotype", "gamete", "upper jaw region", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", + "palpebral fissure phenotype", "Upslanted palpebral fissure", "manual digit plus metapodial segment", "Abnormal bone ossification", - "Abnormal facial skeleton morphology", - "multi organ part structure", - "increased length of the anatomical line between pupils", - "Abnormal ocular adnexa morphology", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", "Abnormal eyelid morphology", + "palpebral fissure", "female reproductive organ", "ocular adnexa", - "palpebral fissure", - "abnormal lens of camera-type eye morphology", + "opaque lens of camera-type eye", + "blood cell phenotype", + "decreased number of leukocyte", + "lens of camera-type eye phenotype", + "Abnormality of the gastrointestinal tract", + "transparent eye structure phenotype", "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "opaque anatomical entity", - "clavate digit", - "shape eyelid", "Atrial septal defect", "drooping anatomical entity", + "eyelid phenotype", + "large intestine", "Ptosis", "Abnormal cornea morphology", "gland", - "myeloid cell homeostasis", - "glans penis", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", - "olfactory organ", + "clavate digit", + "decreased size of the anatomical structure", + "shape eyelid", + "decreased qualitatively sensory perception", + "incomplete closing of the multicellular anatomical structure", + "Hydrocephalus", + "telencephalon morphology phenotype", + "hindlimb morphology phenotype", + "anatomical projection", + "number of hematopoietic cell phenotype", + "Eumetazoa", + "phalanx morphology phenotype", + "Eukaryota", + "Metazoa", + "Abnormal hand morphology", + "forebrain morphology phenotype", + "root", + "aplasia or hypoplasia of telencephalon", + "Abnormality of the male genitalia", + "increased size of the organ part", + "cellular organisms", + "size of skull phenotype", + "increased length of the multicellular anatomical structure", + "Bicornuate uterus", + "regional part of brain phenotype", + "limb long bone", + "aplasia or hypoplasia of anatomical entity", + "systemic artery morphology phenotype", + "decreased biological_process", + "size of anatomical entity phenotype", + "female reproductive system morphology phenotype", + "telencephalon", "cranial skeletal system", "nose", + "decreased size of the endochondral element", "endocrine gland", - "sperm", - "internal naris", - "Neoplasm by anatomical site", - "olfactory system", - "Abnormality of the nervous system", - "pedal digit digitopodial skeleton", - "pelvic region of trunk", - "bony vertebral centrum", - "abnormal olfactory system morphology", - "abnormal nose", - "Abnormal male urethral meatus morphology", - "renal system", - "male urethra", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "abnormal urethra", - "excretory system", - "posterior nasal aperture atresia", - "Hypospadias", - "epicanthal fold", - "hindlimb long bone", - "abnormal lower urinary tract", - "segment of pes", - "voluntary movement behavior", - "Renal hypoplasia/aplasia", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", - "thoracic segment organ", - "urethra", - "gray matter of telencephalon", - "urethral meatus", - "Abnormality of prenatal development or birth", - "nervous system", - "abnormal face", - "Displacement of the urethral meatus", - "abnormal spermatogenesis", - "Abnormal shape of the palpebral fissure", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "root", - "regional part of nervous system", - "Abnormal midface morphology", - "Decreased head circumference", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "Abnormal pulmonary valve morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anterior chamber of eyeball morphology", - "telencephalon", - "Abnormal vascular morphology", - "Abnormality of skull size", - "Eukaryota", - "Deviation of the 5th finger", - "regional part of brain", - "Visual impairment", - "ulna", - "abdomen", - "deviation of manual digit towards the middle", - "Eumetazoa", "tube closure", + "ocular adnexa phenotype", "Aplasia/Hypoplasia of the cerebrum", + "autonomic nervous system phenotype", "Abnormality of the abdominal organs", + "vertebral column morphology phenotype", "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", - "abnormality of renal system physiology", - "abnormal esophagus morphology", - "abnormal size of anatomical entity", - "digit 1 plus metapodial segment", - "synovial joint", - "Abnormality of the anus", - "abnormal immune system", - "pedal digitopodium region", - "abnormally decreased number of cell", - "Functional abnormality of the inner ear", - "pedal digit", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "axial skeleton plus cranial skeleton", - "Abnormal leukocyte morphology", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "Leukopenia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal kidney", - "abnormal number of anatomical enitites of type leukocyte", - "abnormally decreased number of leukocyte in the blood", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "haemolymphatic fluid", - "abnormal hematopoietic system", - "delayed growth", - "abnormal immune system morphology", - "Hematological neoplasm", - "Reduced bone mineral density", - "Myelodysplasia", - "Abnormality of vision", - "Non-obstructive azoospermia", - "increased size of the anatomical entity in independent continuant", - "central nervous system gray matter layer", - "chamber of eyeball", - "pedal digit bone", - "cardiac atrium", - "Abnormality of the integument", - "abnormal size of brain ventricle", + "Deviation of the 5th finger", + "regional part of brain", + "regional part of nervous system", + "interventricular septum", + "increased length of the anatomical line", + "ganglion of peripheral nervous system morphology phenotype", + "Abnormal midface morphology", + "Abnormal skull morphology", + "skull morphology phenotype", + "oral cavity", + "Abnormality of the ocular adnexa", + "Opisthokonta", + "testis", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Abnormality of the testis size", + "gonad", + "palatine uvula morphology phenotype", + "Decreased anatomical entity mass density", + "embryo", + "Absent testis", + "integument phenotype", + "vision/eye phenotype", + "secondary palate morphology phenotype", + "decreased length of forelimb bone", + "long bone phenotype", + "Abnormality of the outer ear", + "number of myeloid cell phenotype", + "absent germ cell", + "ear morphology phenotype", + "bone element phenotype", + "male reproductive system phenotype", + "vestibulo-auditory system", + "anterior uvea", + "Abnormality of blood and blood-forming tissues", + "external ear phenotype", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "increased size of the non-material anatomical boundary", + "incomplete closing of the organ", + "Abnormal pinna morphology", + "Abnormal ear morphology", + "ear", + "artery morphology phenotype", + "developmental process involved in reproduction phenotype", + "male reproductive organ physiology phenotype", + "internal male genitalia", + "anatomical entity morphology in the brain phenotype", + "incomplete closing of the ectoderm-derived structure", + "eyeball of camera-type eye phenotype", + "increased size of the anatomical structure", + "multi organ part structure phenotype", + "increased size of the ventricle of nervous system", + "epicanthal fold", + "hindlimb long bone", + "decreased length of multicellular anatomical structure", + "abdomen element phenotype", + "increased size of the organ component layer", + "Abnormal nasal morphology", + "internal male genitalia physiology phenotype", + "duodenum morphology phenotype", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "paralysed cranial nerve", + "increased size of the ectoderm-derived structure", + "abdomen element physiology phenotype", + "increased length of the zone of organ", + "absent anatomical structure", + "trunk", + "manual digit 5 plus metapodial segment", + "female reproductive system phenotype", "zone of organ", + "skull phenotype", "increased size of the brain ventricle", - "liver", - "abnormal endocrine system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", + "increased size of the multicellular anatomical structure", + "visual perception phenotype", + "craniocervical region", + "endocrine system phenotype", + "structure with developmental contribution from neural crest, asymmetrically curved phenotype", + "digestive system morphology phenotype", + "exocrine gland phenotype", "Decreased fertility", - "Abnormality of the endocrine system", - "forelimb", - "skeleton of pelvic complex", - "abdominal segment of trunk", - "Conotruncal defect", - "digestive system gland", - "musculoskeletal system", - "abdominal segment element", + "Abnormality of the genitourinary system", + "exocrine system", + "decreased length of forelimb endochondral element", + "intromittent organ", + "respiratory system morphology phenotype", + "gland phenotype", "Abnormality of the liver", - "behavior", - "abdomen element", - "glandular system", - "abnormal hypothalamus-pituitary axis", - "non-material anatomical boundary", - "abnormally fused pedal digit and anatomical entity", - "abnormal location of anatomical entity", - "Renal insufficiency", - "late embryo", - "Cardiomyopathy", - "flat bone", - "increased anatomical entity length in independent continuant", + "fused anatomical entity and manual digit", + "incomplete closing of the roof of mouth", + "liver", + "abdominal segment element phenotype", + "abdominal segment of trunk", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "trunk region element phenotype", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", + "gonad phenotype", + "internal ear phenotype", + "liver phenotype", + "decreased functionality of the mesoderm-derived structure", + "gamete generation phenotype", + "subdivision of skeletal system", + "hepatobiliary system", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "behavior process", + "cardiovascular system morphology phenotype", + "anterior chamber of eyeball", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "material anatomical entity, curved phenotype", + "endocrine gland phenotype", + "increased size of the right cardiac chamber", + "hypothalamus-pituitary axis phenotype", + "posterior nasal aperture phenotype", + "hypothalamus-pituitary axis", + "Abnormal reflex", + "hindlimb joint", + "anatomical line phenotype", + "penis", + "increased size of the anatomical line", + "tube phenotype", "Hypertelorism", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", - "immaterial anatomical entity", - "abnormal anatomical entity, curved", + "increased length of the anatomical entity", "anatomical line", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "Oligohydramnios", - "amniotic fluid", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "duodenum", + "immaterial anatomical entity phenotype", + "non-material anatomical boundary phenotype", + "increased length of the immaterial anatomical entity", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "intestine", + "ectoderm-derived structure phenotype", + "immaterial anatomical entity", + "anatomical entity length phenotype", + "decreased qualitatively multicellular organism development", + "digit", + "location of eyeball of camera-type eye phenotype", + "decreased size of the sense organ", + "vessel", + "spermatogenesis phenotype", + "anatomical entity atresia", + "Abnormal spermatogenesis", + "absent material anatomical entity in the multicellular organism", + "morphogenesis of embryonic epithelium", + "haploid cell", + "germ line cell", + "Cafe-au-lait spot", + "gamete phenotype", + "absent material anatomical entity", + "spermatogenesis", + "internal naris", + "sperm", + "erythroid lineage cell morphology phenotype", + "limb segment phenotype", + "number of cell phenotype", + "decreased qualitatively developmental process", + "reproductive process phenotype", + "male gamete", + "prepuce of penis morphology phenotype", + "absent gamete", + "decreased sensory perception of mechanical stimulus", + "iris", + "integumental system", + "semen", + "Aplasia/Hypoplasia affecting the uvea", + "decreased gamete generation", + "absent anatomical entity in the semen", + "subdivision of skeleton phenotype", + "male reproductive system physiology phenotype", + "conceptus", + "decreased multicellular organismal reproductive process", + "Abnormal cellular phenotype", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "internal genitalia", + "skeleton of pes", + "pes morphology phenotype", + "organ part morphology in the heart phenotype", + "reproduction", + "closing of the anatomical conduit", + "developmental process rate phenotype", + "epithelium", + "autopodial skeleton", + "outflow tract of ventricle", + "increased size of the brain ventricle/choroid plexus", + "Abnormality of the skin", + "biological_process rate phenotype", + "Abnormality of the palpebral fissures", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "oxygen accumulating cell", + "manual digit phenotype", + "multicellular organismal reproductive process phenotype", + "Abnormality of the nose", + "developmental process involved in reproduction", + "sexual reproduction", + "male gamete generation", + "fused anatomical entity and digit", + "hematopoietic system phenotype", + "small intestine morphology phenotype", + "small intestine", "cavitated compound organ", "Abnormal duodenum morphology", - "abnormal hindlimb morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "small intestine phenotype", + "Abnormal foot morphology", + "Duodenal stenosis", + "testis phenotype", + "Abnormality of movement", + "intestine morphology phenotype", + "subdivision of tube phenotype", + "increased length of the skin of head", + "Azoospermia", + "Abnormal small intestine morphology", "clavate anatomical entity", "Hydroureter", + "membrane bone phenotype", "Abnormal uterus morphology", + "myocardium phenotype", "Abnormal oral morphology", - "shape forehead", - "posterior region of body", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal digit", - "skeleton of pedal digitopodium", - "skeleton of pedal acropodium", - "vertebral centrum element", - "pelvic appendage skeleton", - "hindlimb endochondral element", - "skeleton of pes", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", - "Duodenal stenosis", - "Abnormal foot morphology", - "Hypermelanotic macule", + "Choanal atresia", + "acropodial skeleton", + "autopod region morphology phenotype", + "continuant", + "hindlimb", + "Functional abnormality of the inner ear", + "pedal digit", "leg", - "abnormally decreased number of anatomical entity in the blood", + "neoplasm phenotype", "phalanx of pes", - "abnormal long bone morphology", + "cardiac valve morphology phenotype", + "orifice atresia", "digitopodium bone", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal iris morphology", "phalanx", - "abnormal phalanx of pes morphology", - "3-D shape anatomical entity in independent continuant", - "abnormal digit morphology", - "Choanal atresia", - "acropodial skeleton", - "digit", - "abnormal phalanx morphology", - "pes", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "Abnormal digit morphology", - "phalanx endochondral element", - "abnormal autopod region morphology", "Abnormality of the lower limb", - "individual digit of digitopodial skeleton", + "jaw skeleton", + "exocrine gland", + "hindlimb bone", + "phalanx endochondral element", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "pes", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "localised reproductive structure", "digitopodium region", - "genitourinary system", - "Limb undergrowth", - "abnormal kidney morphology", - "skull", - "femur", + "fused manual digit and manual digit", + "pedal digitopodium region", + "material anatomical entity, asymmetrically curved phenotype", + "lower limb segment", + "increased length of the anatomical structure", + "pedal digitopodium bone", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "digit morphology phenotype", + "pelvic complex", + "duodenum", + "formed organ subunit", + "long bone morphology phenotype", + "incomplete closing of the mesoderm-derived structure", + "decreased size of the forelimb zeugopod bone", + "joint of girdle morphology phenotype", + "Proptosis", + "hindlimb stylopod", + "lower limb segment phenotype", + "pelvic girdle skeleton", + "pedal digit morphology phenotype", + "posterior region of body", + "Abnormal lower limb bone morphology", + "incomplete closing of the arch of centrum of vertebra", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "radius endochondral element", + "skin of face morphology phenotype", + "Abnormal renal morphology", + "subdivision of organism along appendicular axis phenotype", + "Abnormal cardiovascular system morphology", + "Abnormal ocular adnexa morphology", + "cavitated compound organ phenotype", + "Abnormal localization of kidney", "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", + "Abnormal anus morphology", + "compound organ phenotype", + "decreased functionality of the reproductive organ", + "Abnormality of the female genitalia", + "cardiac ventricle morphology phenotype", + "renal system morphology phenotype", + "male reproductive system morphology phenotype", + "orbital region phenotype", "Abnormality of the kidney", - "Decreased fertility in males", - "prominent anatomical entity", - "abnormal roof of mouth morphology", - "anatomical projection", - "abnormal midface morphology", + "neural tube closure phenotype", + "kidney", "mouth", "Aplasia/Hypoplasia of the iris", + "midface morphology phenotype", + "oral cavity morphology phenotype", + "morphological feature phenotype", + "myocardium morphology phenotype", + "incomplete closing of the anatomical structure", "Abnormal oral cavity morphology", + "roof of mouth morphology phenotype", + "anatomical cavity", "Abnormal aortic valve morphology", + "increased number of multicellular anatomical structure in the cerebrospinal fluid", "midface", - "abnormal soft palate morphology", - "palatine uvula", "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", "soft palate", - "abnormal oral cavity morphology", - "abnormal mouth", + "soft palate morphology phenotype", + "Abnormal soft palate morphology", "primary circulatory organ", + "ectoderm-derived structure, curved phenotype", "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", - "Abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "anatomical cavity", - "absent sperm", - "abnormally formed anatomical entity", - "nervous system cell part layer", - "abnormal pes morphology", - "aplasia or hypoplasia of uvea", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal anterior uvea morphology", - "abnormal artery morphology in the independent continuant", - "abnormal penis morphology", - "abnormal cranium morphology", - "Abnormality iris morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "Abnormal uvea morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", "malformed anatomical entity", - "circulatory organ", - "uvea", + "subdivision of organism along main body axis", + "formed anterior chamber of eyeball", "Abnormal hip joint morphology", "aplasia or hypoplasia of eyeball of camera-type eye", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", + "fused digit and digit", + "decreased length of organ", + "formed multicellular anatomical structure", + "iris phenotype", + "decreased qualitatively multicellular organismal reproductive process", + "formed anatomical structure", + "formed material anatomical entity", + "decreased length of mesoderm-derived structure", + "systemic arterial system", + "Abnormal cerebral morphology", + "palatine uvula phenotype", + "Joint dislocation", + "Abnormal uvea morphology", + "Abnormality iris morphology", + "circulatory organ", + "uvea", + "anatomical collection", + "Macule", "increased biological_process in skin of body", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "integument", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", - "abnormal cardiac valve morphology", + "posterior nasal aperture atresia", + "cerebral hemisphere morphology phenotype", + "Hypospadias", + "fused manual digit and anatomical entity", + "decreased size of the multicellular anatomical structure", + "musculature", "Localized skin lesion", "Abnormal 5th finger morphology", "Abnormal thumb morphology", "aplasia or hypoplasia of ulna", - "increased pigmentation in independent continuant", - "manual digit bone", - "abnormal biological_process in independent continuant", - "non-functional kidney", - "decreased size of the anatomical entity", - "Abnormal cerebral cortex morphology", - "forebrain", - "increased qualitatively biological_process", - "abnormal cell morphology", - "anatomical collection", - "Macule", - "abnormal cornea, curved", - "pigmentation", - "eyeball of camera-type eye", - "abnormal upper urinary tract", - "abnormal skin of body", - "Abnormality of skin morphology", - "abnormality of kidney physiology", - "changed biological_process rate in independent continuant", - "abnormal asymmetry of face", - "abnormal integument", - "abnormal manus", - "abnormal manus morphology", - "Aplasia/hypoplasia involving bones of the hand", + "Abnormal size of the palpebral fissures", + "autopod region phenotype", + "Finger clinodactyly", + "anatomical entity morphology in the manus phenotype", + "manual digit", + "skeleton phenotype", + "manus morphology phenotype", + "number of anatomical enitites of type anatomical structure phenotype", "skeleton of manus", - "Aplasia/Hypoplasia of fingers", - "abnormal cardiac valve morphology in the heart", + "segment of manus", + "vascular system", + "aplasia or hypoplasia of skeleton", "Abnormality of the hand", + "bone of hip region", + "external ear morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "Aplasia/hypoplasia involving bones of the hand", + "amniotic fluid", + "anatomical entity morphology in the pectoral complex phenotype", + "neural crest-derived structure phenotype", + "manual digit morphology in the manus phenotype", "decreased pigmentation in skin of body", + "incomplete closing of the anatomical conduit", "Abnormal finger morphology", - "vascular system", - "abnormal anterior segment of eyeball morphology", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", "Aplasia/hypoplasia involving the skeleton", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", - "male reproductive system", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "appendage", - "abnormally fused digit and digit", - "Clinodactyly of the 5th finger", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", + "fused digit and anatomical entity", + "anatomical entity mass density phenotype", + "pelvic girdle bone/zone", + "eye movement phenotype", + "respiratory system phenotype", + "Abnormality of bone mineral density", + "brain ventricle/choroid plexus phenotype", + "bone element mass density phenotype", "biogenic amine secreting cell", "ossification", - "Abnormality of bone mineral density", - "cardiac chamber", - "abnormal spatial pattern of anatomical entity", - "abnormal late embryo", - "Deviation of the hand or of fingers of the hand", "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of digit towards the middle", + "digit 1 or 5", + "cranial nerve related reflex", + "manual digit 5 morphology phenotype", + "manual digit 5", + "spatial pattern of anatomical entity phenotype", + "digit 1 or 5 phenotype", + "digit 5 plus metapodial segment", + "digestive system", + "decreased length of endochondral bone", + "Deviation of the hand or of fingers of the hand", "appendicular skeletal system", - "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", "deviation of manual digit", - "trunk", - "manual digit 5 plus metapodial segment", - "digit 1 or 5", - "manual digit 5", - "hypertrophic multicellular anatomical structure", - "dermal skeletal element", - "decreased length of anatomical entity in independent continuant", + "decreased functionality of the organ part", + "upper limb segment phenotype", + "decreased length of bone element", + "ulna phenotype", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "organ phenotype", + "Forearm undergrowth", + "genitourinary system", + "Limb undergrowth", + "decreased size of the forelimb endochondral element", + "cardiac ventricle morphology in the heart phenotype", + "decreased size of the anatomical entity", + "Upper limb undergrowth", + "decreased length of material anatomical entity", + "decreased length of skeletal element", + "decreased size of the long bone", + "decreased size of the material anatomical entity", + "decreased size of the endochondral bone", + "Hematological neoplasm", + "decreased size of the organ", + "ulna hypoplasia", + "head bone phenotype", + "decreased size of the bone of pectoral complex", + "Short long bone", + "decreased length of bone of free limb or fin", + "decreased size of the bone of free limb or fin", + "increased response to external stimulus", + "forelimb zeugopod bone hypoplasia", + "forelimb long bone phenotype", "paired limb/fin skeleton", + "respiratory system physiology phenotype", "Abnormal nervous system physiology", "Hypoplasia of the ulna", - "Upper limb undergrowth", - "forelimb zeugopod bone hypoplasia", - "abnormal incomplete closing of the interatrial septum", - "intestine", - "Decreased multicellular organism mass", - "Aplasia/Hypoplasia of the ulna", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", + "decreased size of the bone element", "Short forearm", + "decreased length of limb endochondral element", + "decreased size of the anatomical entity in the pectoral complex", + "decreased size of the bone of appendage girdle complex", + "increased length of the zone of skin", "Aplasia/hypoplasia involving forearm bones", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "increased height of the secondary palate", - "Tetralogy of Fallot", - "Forearm undergrowth", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", + "Cardiomyopathy", + "flat bone", + "pelvic region element", + "Hyperpigmentation of the skin", + "limb joint", + "anatomical conduit atresia", + "joint of girdle", + "manus phenotype", + "hindlimb joint phenotype", + "zone of bone organ", + "skeletal joint", + "articulation phenotype", "Micrognathia", "anatomical entity dislocation", - "Abnormal localization of kidney", - "abnormal skeletal joint morphology", - "articulation", - "cerebral hemisphere gray matter", - "skin of body", - "abnormal pelvic girdle bone/zone morphology", - "skeletal joint dislocation", - "peripheral nervous system", - "abnormal hip joint morphology", - "articular system", - "abnormal embryonic tissue morphology", - "zone of bone organ", - "Abnormal hip bone morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", - "stylopod", - "upper leg bone", - "abnormal femur morphology", - "abnormal hindlimb stylopod morphology", - "dentary", - "femur endochondral element", - "Abnormality of femur morphology", - "Abnormality of enteric ganglion morphology", - "abnormal intestine morphology", - "abnormal face morphology", - "axial skeletal system", - "autonomic ganglion", - "enteric ganglion", - "parasympathetic ganglion", - "enteric nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "autonomic nervous system", - "Unusual infection", - "abnormal enteric ganglion morphology", - "neurocranium bone", - "parasympathetic nervous system", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal autonomic nervous system morphology" + "skeletal joint dislocation" ], "has_phenotype_count": 106, "highlight": null, "score": null }, { - "id": "MONDO:0013499", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", + "name": "Fanconi anemia complementation group O", "full_name": null, "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": [ + "DOID:0111096", + "GARD:15656", + "MEDGEN:462003", + "OMIM:613390", + "UMLS:C3150653" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCP", - "Fanconi Anemia, complementation group type P", - "Fanconi anaemia caused by mutation in SLX4", - "Fanconi anaemia caused by mutation in Slx4", - "Fanconi anaemia complementation group type P", - "Fanconi anemia caused by mutation in SLX4", - "Fanconi anemia caused by mutation in Slx4", - "Fanconi anemia complementation group type P", - "Fanconi anemia, complementation group P", - "SLX4 Fanconi anaemia", - "SLX4 Fanconi anemia", - "Slx4 Fanconi anaemia", - "Slx4 Fanconi anemia" + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0002984", "HP:0009777", - "HP:0000957", - "HP:0000252", - "HP:0001510", - "HP:0000581", - "HP:0001876", - "HP:0000347", + "HP:0040012", + "HP:0001245", + "HP:0003774", + "HP:0002984", + "HP:0000126", + "HP:0000028", "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", + "HP:0009623", + "HP:0001627", + "HP:0000107", + "HP:0003241", "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0002860", - "HP:0001045" + "HP:0002023", + "HP:0025023" ], "has_phenotype_label": [ - "Hypoplasia of the radius", "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Growth delay", - "Blepharophimosis", - "Pancytopenia", - "Micrognathia", + "Chromosome breakage", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Hypoplasia of the radius", + "Hydronephrosis", + "Cryptorchidism", "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", + "Proximal placement of thumb", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Squamous cell carcinoma", - "Vitiligo" + "Anal atresia", + "Rectal atresia" ], "has_phenotype_closure": [ - "HP:0002860", - "HP:0008069", - "HP:0000086", - "UBERON:0005156", - "GO:0032504", - "HP:0012243", - "UPHENO:0050101", - "UPHENO:0078452", - "UBERON:0003101", - "UPHENO:0049701", - "UBERON:0004054", - "UBERON:0000473", - "UPHENO:0085873", - "UPHENO:0049367", - "UPHENO:0086198", - "GO:0022414", - "UBERON:0004176", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "HP:0000035", - "HP:0000078", - "UPHENO:0002371", - "UPHENO:0086201", - "UPHENO:0003055", - "HP:0000811", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0005016", - "UBERON:0000463", - "UPHENO:0078729", - "HP:0008669", - "CL:0000408", - "UPHENO:0085194", - "UPHENO:0049940", - "UPHENO:0052778", - "HP:0000032", - "UBERON:0001968", - "GO:0000003", - "UPHENO:0087802", - "GO:0019953", - "GO:0003006", - "GO:0048609", - "UPHENO:0002378", - "UPHENO:0049985", - 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"UPHENO:0088168", - "UBERON:0002470", - "UBERON:0007827", - "OBI:0100026", - "UPHENO:0001072", - "UPHENO:0087907", - "UBERON:0034929", - "GO:0008150", - "UBERON:0006983", - "UBERON:0002268", - "GO:0031326", - "UPHENO:0065599", - "UPHENO:0084727", - "UPHENO:0087430", - "UPHENO:0084715", - "CL:0000300", - "HP:0012130", - "UPHENO:0041629", - "UBERON:0011143", - "UBERON:0005177", - "UBERON:0001008", - "UPHENO:0087427", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0041226", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0005173", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "UBERON:8450002", - "HP:0000085", - "UBERON:0001463", - "UBERON:0008962", - "UBERON:0008907", - "HP:0012210", - "GO:0006996", - "HP:0000079", - "GO:0048523", - "GO:0009889", - "HP:0003220", - "UPHENO:0050113" + "HP:0011927", + "UBERON:0012141", + "UPHENO:0046740", + "UBERON:0000991", + "UPHENO:0046750", + "UPHENO:0046426", + "UPHENO:0046741", + "UPHENO:0069236", + "UPHENO:0046411", + "UPHENO:0080369", + "UBERON:0014793", + "UPHENO:3000004", + "HP:0009603", + "UPHENO:0003093", + "HP:0009484", + "UPHENO:0084829", + "UPHENO:0005016", + "UBERON:0007100", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0004288", + "UPHENO:0002830", + "UPHENO:0046405", + "UBERON:0015228", + "UBERON:0015410", + "UPHENO:0050065", + "UBERON:0000915", + "UPHENO:0075949", + "MPATH:0", + "MPATH:603", + "UPHENO:0049874", + "GO:0010468", + "UPHENO:0012440", + "UPHENO:0000541", + "UPHENO:0080351" ], "has_phenotype_closure_label": [ - "Neoplasm of the skin", - "Pelvic kidney", - "Ectopic kidney", - "Abnormal reproductive system morphology", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "absent germ cell", - "external male genitalia", - "testis", - "Azoospermia", - "male gamete generation", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male germ cell", - "male gamete", - "Abnormal testis morphology", - "semen", - "reproduction", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormal external genitalia", - "reproductive process", - "abnormally localised anatomical entity in independent continuant", - "abnormal internal genitalia", - "external genitalia", - "internal genitalia", - "gonad", - "haploid cell", - "reproductive system", - "organism substance", - "abnormal gamete", - "sperm", - "abnormal location of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "absent gamete", - "germ cell", - "gamete", - "reproductive structure", - "decreased qualitatively developmental process", - "abnormal reproductive system morphology", - "decreased spermatogenesis", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "spermatogenesis", - "decreased developmental process", - "abnormal testis morphology", - "Cryptorchidism", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormality of reproductive system physiology", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", - "ear", - "abnormal developmental process", - "sensory perception", - "system process", - "multicellular organismal process", - "abnormality of anatomical entity physiology", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", + "Opisthokonta", + "Anorectal anomaly", + "rectum morphology phenotype", + "Abnormal intestine morphology", + "Rectal atresia", + "closing of the organ part", + "intestine morphology phenotype", + "intestine atresia", + "anatomical system atresia", + "subdivision of digestive tract atresia", + "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype", + "rectum atresia", + "organism", + "digestive system element", + "internal anal region", + "cellular organisms", + "Abnormal gastrointestinal tract morphology", + "organ part atresia", + "intestine", + "terminal part of digestive tract", + "rectum", + "Eumetazoa", + "alimentary part of gastrointestinal system", + "alimentary part of gastrointestinal system atresia", + "anus", + "material anatomical entity atresia", + "closing of the anatomical structure", + "digestive system phenotype", + "digestive tract", + "closing of the anatomical conduit", + "anus morphology phenotype", + "Abnormality of the anus", + "Abnormal anus morphology", + "ectoderm-derived structure phenotype", + "orifice", + "anatomical entity atresia", + "anus phenotype", + "orifice phenotype", + "Abnormality of the gastrointestinal tract", + "Abnormal digestive system morphology", + "root", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "Abnormality of the digestive system", + "closing of the ectoderm-derived structure", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "abnormal size of multicellular organism", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "abnormal reproductive process", - "regulation of macromolecule metabolic process", - "regulation of biosynthetic process", + "multicellular organism height phenotype", + "palmar/plantar part of autopod", + "anal region", + "muscle structure", + "large intestine", + "material anatomical entity", + "Abnormal skeletal muscle morphology", + "arm phenotype", + "thoracic cavity element", + "pectoral appendage musculature", + "musculature of upper limb", "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", + "subdivision of tube phenotype", + "musculature of limb phenotype", + "independent continuant", + "subdivision of skeletal system", + "entity", + "forelimb zeugopod bone morphology phenotype", + "autopod region morphology phenotype", + "absent organism subdivision in the multicellular organism", "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "organism", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Decreased head circumference", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "visual system", - "Abnormal skull morphology", - "Abnormal cellular immune system morphology", - "Abnormal cerebral morphology", - "arm bone", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "forebrain", - "regional part of nervous system", - "Narrow palpebral fissure", - "renal system", - "multi-tissue structure", - "main body axis", - "abnormal kidney morphology", - "craniocervical region", - "root", - "appendage", - "abnormal nervous system", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "pigmentation", - "abnormal integument", - "Abnormality of skin pigmentation", - "skeleton of limb", - "aplasia or hypoplasia of skull", - "neural crest-derived structure", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "increased qualitatively biological_process in independent continuant", - "absent sperm", - "limb segment", - "biological_process", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", - "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "gamete generation", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal immune system morphology", - "Abnormal myeloid cell morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", + "metabolic process", + "regulation of cellular biosynthetic process", + "closing of the subdivision of digestive tract", + "negative regulation of biological process phenotype", + "Abnormal cellular phenotype", + "negative regulation of gene expression phenotype", + "segment of autopod", + "reproductive system", + "muscle organ", + "musculature of pectoral complex", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "cell phenotype", + "programmed DNA elimination by chromosome breakage", + "cell", + "Abnormality of the upper limb", + "skeletal element", + "regulation of macromolecule biosynthetic process phenotype", + "zeugopod", + "regulation of biosynthetic process phenotype", + "compound organ", + "zeugopodial skeleton", + "limb long bone", "Abnormality of chromosome stability", - "immaterial entity", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", - "agenesis of anatomical entity", - "telencephalon", - "digit", - "Hyperpigmentation of the skin", - "skeleton of manus", - "obsolete multicellular organism reproduction", - "cellular organisms", - "abnormal manus morphology", - "Absent thumb", - "abnormal autopod region morphology", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "Neoplasm", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "abnormal size of anatomical entity", - "abnormal phenotype by ontology source", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "abnormal cellular metabolic process", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "paired limb/fin", - "Hypoplasia of the radius", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", - "abnormal multicellular organismal reproductive process", - "manual digit", - "U-shaped anatomical entity", - "abnormal central nervous system morphology", - "abnormal reproductive system", - "abnormal kidney", - "Aplasia/Hypoplasia of the radius", + "negative regulation of macromolecule metabolic process phenotype", + "increased size of the renal pelvis", + "homeostatic process", + "appendage girdle complex", + "digit phenotype", + "musculature phenotype", + "Abnormal finger morphology", + "organ phenotype", + "decreased length of manual digit", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "dilated renal pelvis", + "negative regulation of biological process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "occurrent", "subdivision of skeleton", "endochondral bone", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "quality", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "anatomical system", - "lateral structure", - "abnormal limb bone morphology", - "entity", - "subdivision of skeletal system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "absent manual digit", - "decreased size of the mandible", - "organ system subdivision", - "decreased length of palpebral fissure", - "erythrocyte", - "abnormal blood cell", - "abnormal radius bone morphology", - "head", - "digit plus metapodial segment", + "Aplasia/Hypoplasia of the radius", + "endochondral bone phenotype", + "Metazoa", + "Abnormal hand morphology", "external soft tissue zone", - "body proper", - "regulation of gene expression", - "pectoral appendage", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", - "skeletal system", - "motile cell", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal face", - "zeugopod", - "skeletal element", - "abnormal anatomical entity morphology in the pectoral complex", - "upper limb segment", - "appendicular skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "organism subdivision", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "radius bone hypoplasia", - "subdivision of organism along appendicular axis", - "manual digit plus metapodial segment", - "integument", + "skeletal system phenotype", + "digit plus metapodial segment", + "appendage", + "anatomical entity phenotype", + "decreased length of organ", + "localised testis", + "musculoskeletal system", + "Absent thumb", + "bone of free limb or fin", + "cavitated compound organ phenotype", + "aplastic anatomical entity", + "All", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "manual digit morphology in the manus phenotype", + "forelimb zeugopod morphology phenotype", + "Upper limb undergrowth", "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", "paired limb/fin segment", - "dermatocranium", - "pectoral complex", - "trunk region element", - "radius endochondral element", - "material anatomical entity", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "Squamous cell carcinoma", - "mesoderm-derived structure", - "abnormality of ear physiology", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "hematopoietic system", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "endochondral element", - "multi-limb segment region", + "absent multicellular anatomical structure", + "decreased length of endochondral bone", + "Eukaryota", + "negative regulation of cellular metabolic process", + "abdomen element", "appendicular skeletal system", - "system", - "bone marrow cell", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "forelimb endochondral element", + "Phenotypic abnormality", + "negative regulation of gene expression", + "regulation of metabolic process phenotype", + "Abnormality of the urinary system physiology", + "bone element phenotype", + "pectoral complex", + "multi-limb segment region phenotype", + "regulation of macromolecule metabolic process", + "upper limb segment phenotype", + "endochondral element phenotype", + "manual digit 1 morphology phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "closing of the subdivision of tube", + "skeleton of limb", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "musculature of manus", + "anatomical entity morphology in the pectoral complex phenotype", + "absent anatomical structure in the forelimb", + "aplasia or hypoplasia of manual digit 1", + "bone of pectoral complex phenotype", + "absent anatomical structure", + "orifice atresia", + "appendicular skeleton", + "upper limb segment", + "external soft tissue zone phenotype", + "limb phenotype", + "paired limb/fin skeleton", "Aplasia/hypoplasia involving bones of the hand", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "decreased qualitatively biological_process", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal craniocervical region morphology", - "continuant", - "absent sperm in the semen", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "Abnormality of the ocular adnexa", - "abnormally localised anatomical entity", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "skeleton", - "increased size of the anatomical entity", - "limb", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", + "absent material anatomical entity", + "subdivision of digestive tract phenotype", + "limb bone", + "embryo phenotype", + "segment of manus", + "protein-containing material entity", + "manual digit plus metapodial segment", + "Anal atresia", "limb endochondral element", - "abnormal nervous system morphology", - "abnormal cell morphology", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", - "Abnormality of the genitourinary system", - "blood cell", - "head bone", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "forelimb zeugopod skeleton", - "facial skeleton", - "bone of appendage girdle complex", - "aplastic manual digit 1", - "dentary", - "segment of autopod", - "organic cyclic compound metabolic process", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", + "agenesis of anatomical entity", + "thenar eminence hypoplasia", + "skeleton of manus", + "skeleton phenotype", + "palmar part of manus", + "Abnormal large intestine morphology", + "Aplasia/hypoplasia involving the skeleton", + "Abnormal limb bone morphology", + "absent digit", "arm", - "abnormal nose morphology", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", - "postcranial axial skeletal system", - "abnormal digit morphology", - "skeleton of lower jaw", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "eye", - "compound organ", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal mouth", + "trunk region element physiology phenotype", + "male reproductive organ phenotype", + "autopodial extension phenotype", + "manual digit", + "Abnormal cardiovascular system morphology", + "continuant", + "absent material anatomical entity in the forelimb", + "late embryo phenotype", + "regulation of cellular process phenotype", "forelimb zeugopod", - "cranial skeletal system", - "Abnormality of head or neck", - "abnormal head morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "postcranial axial skeleton", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "tissue", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb long bone", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", + "Abnormal appendicular skeleton morphology", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "muscle organ morphology phenotype", + "autopod region phenotype", + "material anatomical entity phenotype", + "forelimb long bone phenotype", + "skeletal system", + "Hypoplasia of the radius", + "programmed DNA elimination by chromosome breakage phenotype", + "manus phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "regulation of metabolic process", + "autopodial extension", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "mesoderm-derived structure phenotype", + "bone element", + "regulation of biological process", + "digit 1 phenotype", + "lateral structure", + "mesoderm-derived structure", + "Stage 5 chronic kidney disease", + "closing of the multicellular anatomical structure", + "organ system subdivision", + "thenar eminence phenotype", + "musculature", + "Abnormality of the thenar eminence", + "number of anatomical enitites of type organism subdivision phenotype", + "limb endochondral element phenotype", + "anatomical structure", + "paired limb/fin phenotype", + "absent multicellular anatomical structure in the multicellular organism", + "anatomical conduit phenotype", + "taxon specific phenotype", + "Abnormal rectum morphology", + "absent manual digit", + "Abnormal thumb morphology", + "subdivision of trunk", + "limb segment", + "forelimb morphology phenotype", + "musculature of limb", + "Abnormal cellular physiology", + "cardiovascular system", + "male reproductive system phenotype", + "aplastic manual digit 1", + "anatomical entity morphology in the manus phenotype", + "anatomical system", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "lower digestive tract", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "subdivision of digestive tract", + "regulation of cellular biosynthetic process phenotype", + "limb bone morphology phenotype", + "decreased size of the forelimb endochondral element", + "renal pelvis", "forelimb", - "Abnormal forebrain morphology", - "abnormal limb morphology", - "anatomical conduit", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "sensory system", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "axial skeletal system", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Abnormal localization of kidney", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "kidney", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "delayed growth", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "Abnormality of the face", - "multi organ part structure", - "hemolymphoid system", - "organ part", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormality of the orbital region", + "Abnormal skeletal morphology", + "pathological phenotype observation", + "decreased size of the anatomical entity in the pectoral complex", + "digit 1 or 5", + "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "system", + "regulation of gene expression phenotype", + "bone of appendage girdle complex phenotype", + "Abnormality of prenatal development or birth", + "trunk region element", + "decreased size of the manual digit", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "paired limb/fin segment phenotype", + "ectoderm-derived structure", + "decreased length of limb bone", + "Abnormal digit morphology", + "negative regulation of cellular process", + "forelimb skeleton", + "genitourinary system", + "renal pelvis phenotype", + "anatomical entity", + "phenotypic effect", + "size of anatomical entity phenotype", + "Proximal placement of thumb", + "alimentary part of gastrointestinal system phenotype", + "pectoral appendage skeleton", + "forelimb endochondral element phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "biological regulation", + "abdominal segment of trunk", "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "orbital region", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal bone of pectoral complex morphology", - "orifice", - "ocular adnexa", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "simple eye", + "thenar eminence", + "Abnormality of limbs", + "regulation of gene expression", + "pectoral appendage", + "Abnormality of the musculoskeletal system", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "multicellular organism morphology phenotype", + "absent multicellular anatomical structure in the limb", + "Abnormality of the musculature of the limbs", + "anatomical structure physiology phenotype", + "digit morphology phenotype", + "aplasia or hypoplasia of skeleton", + "anatomical conduit atresia", + "Deviation of finger", "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal immune system", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "sensory perception of mechanical stimulus", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", + "Abnormality of limb bone", + "homeostatic process phenotype", + "Abnormal renal pelvis morphology", + "Aplasia/hypoplasia of the extremities", + "Short stature", + "digit 1", + "aplasia or hypoplasia of manual digit", + "Abnormality of the musculature", + "number of anatomical enitites of type material anatomical entity phenotype", + "thoracic segment of trunk", + "limb bone phenotype", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "absent organism subdivision", + "autopod region", + "decreased length of bone of pectoral complex", + "skeleton", + "anatomical collection phenotype", + "quality", + "absent anatomical structure in the limb", + "decreased length of mesoderm-derived structure", + "negative regulation of macromolecule metabolic process", + "abdominal segment element", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "Deviation of the thumb", + "regulation of biosynthetic process", + "bone of appendage girdle complex", + "absent anatomical entity", + "process", + "Abnormality of metabolism/homeostasis", + "limb morphology phenotype", + "biological regulation phenotype", + "intestine phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "external male genitalia", + "organism subdivision", + "limb segment phenotype", + "digit 1 or 5 phenotype", + "digestive system", + "anatomical entity morphology phenotype", "obsolete cell", "decreased length of long bone", - "digestive system", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal hematopoietic system morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "regulation of macromolecule biosynthetic process", - "multicellular organism", - "Thrombocytopenia", - "Abnormality of the immune system", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cavitated compound organ", - "Abnormal leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "abnormal hematopoietic system", - "digit 1", - "abnormal platelet morphology", - "aplasia or hypoplasia of mandible", - "nucleobase-containing compound metabolic process", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "subdivision of tube", - "Aplasia/Hypoplasia involving bones of the skull", - "mouth", - "abnormal mandible morphology", - "anatomical entity hypoplasia in face", - "abnormal jaw skeleton morphology", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", - "abnormal male reproductive system", - "abnormal mouth morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "Abnormality of body height", - "tube", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal digit", - "lower jaw region", - "abnormal primary metabolic process", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", - "abnormality of anatomical entity height", + "programmed DNA elimination", + "spatial pattern of anatomical entity phenotype", + "subdivision of tube atresia", + "multi-limb segment region", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "musculature of pectoral complex phenotype", + "decreased length of anatomical structure", + "musculature of manus phenotype", + "trunk", + "Abnormality of the musculature of the hand", + "appendage musculature", + "manus morphology phenotype", + "musculature of upper limb phenotype", + "Abnormality of the musculature of the upper limbs", + "compound organ physiology phenotype", + "Small thenar eminence", + "abdomen element physiology phenotype", + "pectoral appendage musculature phenotype", + "digit 1 plus metapodial segment", + "Abnormal renal physiology", + "Intestinal atresia", + "arm bone", + "kidney physiology phenotype", + "radius endochondral element", + "anatomical system physiology phenotype", + "abdominal segment element physiology phenotype", + "localised anatomical structure", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "cavitated compound organ physiology phenotype", + "decreased size of the organ", + "decreased size of the endochondral bone", + "Chronic kidney disease", + "renal system phenotype", + "multicellular anatomical structure physiology phenotype", + "body proper", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", + "male organism", + "renal system physiology phenotype", + "multicellular anatomical structure phenotype", + "Renal insufficiency", + "Abnormality of the kidney", + "material anatomical entity physiology phenotype", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "multicellular anatomical structure atresia", + "excretory system", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "absent autopodial extension", + "Fetal ultrasound soft marker", + "closing of the material anatomical entity", + "circulatory system", "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the genital system", - "intramembranous bone", + "main body axis", + "localised multicellular anatomical structure", + "lateral structure physiology phenotype", + "renal system", + "digestive system morphology phenotype", + "Abnormality of the urinary system", + "renal/urinary system phenotype", + "anatomical entity hypoplasia", + "forelimb bone", + "upper urinary tract phenotype", + "decreased length of digit 1 or 5", + "decreased length of forelimb bone", + "decreased length of bone element", + "limb long bone morphology phenotype", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "forelimb long bone", + "Abnormal forearm morphology", + "testis phenotype", + "negative regulation of biosynthetic process", + "material entity", + "long bone", "structure with developmental contribution from neural crest", - "bone of craniocervical region", - "abnormal head bone morphology", - "abnormal manus", - "bone element hypoplasia in face", + "Abnormality of the hand", + "radius bone", + "heart", + "Limb undergrowth", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "decreased length of skeletal element", + "decreased size of the material anatomical entity", + "decreased size of the long bone", + "forelimb zeugopod bone hypoplasia", + "decreased size of the bone of pectoral complex", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Hydronephrosis", + "decreased length of organism subdivision", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "Abnormal testis morphology", + "cardiovascular system phenotype", + "decreased size of the bone of free limb or fin", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased size of the limb bone", + "multi-tissue structure", + "limb long bone phenotype", + "forelimb zeugopod bone", + "decreased length of manual digit 1 or 5", + "decreased length of multicellular anatomical structure", + "kidney", + "Growth delay", + "radius bone phenotype", + "decreased length of digit 1", + "alimentary part of gastrointestinal system morphology phenotype", + "decreased length of forelimb zeugopod bone", + "acropodium region", + "decreased size of the limb endochondral element", + "appendage musculature phenotype", + "forelimb bone phenotype", + "decreased length of limb endochondral element", + "Short forearm", + "delayed biological_process", + "decreased length of material anatomical entity", + "Abnormal upper limb bone morphology", + "closing of the anatomical system", + "decreased size of the arm bone", + "decreased size of the bone of appendage girdle complex", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "bone of pectoral complex morphology phenotype", + "negative regulation of metabolic process phenotype", "Short finger", + "organ", + "decreased size of the anatomical structure", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the endochondral element", + "decreased length of forelimb endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "long bone phenotype", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "increased size of the anatomical structure", + "primary circulatory organ", + "localised organ", + "thoracic segment organ", + "renal pelvis/ureter", + "phenotype", + "Fetal pyelectasis", + "embryonic development/birth phenotype", + "Abnormal fetal genitourinary system morphology", + "organ part", + "external genitalia phenotype", + "multicellular organism phenotype", + "decreased length of autopodial extension", + "organ part phenotype", + "Abnormal renal morphology", + "increased size of the organ part", + "Fetal anomaly", + "renal pelvis morphology phenotype", + "anatomical cluster", + "manual digitopodium region", + "Abnormality of the male genitalia", + "upper urinary tract", + "decreased length of digit", + "anatomical conduit", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Dilatation of the renal pelvis", + "Gastrointestinal atresia", + "late embryo", + "limb", + "increased size of the anatomical entity", + "increased size of the material anatomical entity", + "biological_process", + "genitourinary system phenotype", + "dilated anatomical entity", + "embryo", + "increased size of the anatomical conduit", + "anus atresia", + "Short long bone", + "reproductive organ", + "Abnormal fetal morphology", + "increased size of the multicellular anatomical structure", + "decreased length of bone of appendage girdle complex", + "Abnormal male external genitalia morphology", + "Abnormality of the genital system", + "testis", + "large intestine morphology phenotype", + "localised reproductive structure", + "reproductive system phenotype", + "Cryptorchidism", + "heart plus pericardium", + "subdivision of tube", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "reproductive structure phenotype", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "external genitalia", + "disconnected anatomical group", + "male reproductive organ", + "gonad phenotype", + "reproductive structure", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "external male genitalia phenotype", + "decreased size of the organism subdivision", "anterior region of body", "decreased length of manual digit 1", + "rectum phenotype", + "paired limb/fin", + "decreased size of the digit", + "Short thumb", "Short digit", - "Abnormal nasal tip morphology", - "Abnormal external nose morphology", - "anatomical point", - "olfactory organ", - "Abnormality of the nose", - "entire sense organ system", - "abnormal external nose morphology", - "immaterial anatomical entity", - "nose", - "aplastic anatomical entity", - "Bulbous nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "abnormal erythrocyte morphology", + "decreased size of the forelimb bone", + "deviation of manual digit 1", "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "3-D shape anatomical entity", - "abnormal renal system", - "concave 3-D shape anatomical entity", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "excretory system", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "upper urinary tract", - "Abnormality of the kidney", - "Horseshoe kidney", - "abnormal renal system morphology", - "developmental process", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "shape kidney", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "abnormal pigmentation", - "Abnormality of the head", - "organic substance metabolic process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "cellular component organization" + "Deviation of the hand or of fingers of the hand", + "deviation of manual digit", + "Growth abnormality", + "cardiovascular system morphology phenotype", + "decreased size of the skeletal element", + "reproductive organ phenotype", + "viscus", + "circulatory organ", + "heart morphology phenotype", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", + "tube", + "Abnormality of body height", + "size of multicellular organism phenotype", + "arm bone phenotype", + "delayed growth", + "number of anatomical enitites of type anatomical structure phenotype", + "decreased size of the multicellular organism", + "regulation of cellular process", + "decreased height of the anatomical entity", + "growth phenotype", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth" ], - "has_phenotype_count": 20, + "has_phenotype_count": 15, "highlight": null, "score": null }, { - "id": "MONDO:0013248", + "id": "MONDO:0013499", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "name": "Fanconi anemia complementation group P", "full_name": null, "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": [ + "DOID:0111092", + "GARD:15731", + "MEDGEN:854020", + "OMIM:613951", + "UMLS:C3469542" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCO", - "Fanconi Anemia, complementation group type O", - "Fanconi anaemia caused by mutation in RAD51C", - "Fanconi anaemia caused by mutation in Rad51C", - "Fanconi anaemia complementation group type O", - "Fanconi anemia caused by mutation in RAD51C", - "Fanconi anemia caused by mutation in Rad51C", - "Fanconi anemia complementation group type O", - "Fanconi anemia, complementation group O", - "RAD51C Fanconi anaemia", - "RAD51C Fanconi anemia", - "Rad51C Fanconi anaemia", - "Rad51C Fanconi anemia" + "FANCP", + "Fanconi Anemia, complementation group type P", + "Fanconi anaemia caused by mutation in SLX4", + "Fanconi anaemia caused by mutation in Slx4", + "Fanconi anaemia complementation group type P", + "Fanconi anemia caused by mutation in SLX4", + "Fanconi anemia caused by mutation in Slx4", + "Fanconi anemia complementation group type P", + "Fanconi anemia, complementation group P", + "SLX4 Fanconi anaemia", + "SLX4 Fanconi anemia", + "Slx4 Fanconi anaemia", + "Slx4 Fanconi anemia" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0002984", "HP:0009777", - "HP:0001627", - "HP:0001245", - "HP:0002023", - "HP:0000126", + "HP:0002860", + "HP:0000252", + "HP:0002984", + "HP:0000581", + "HP:0001876", + "HP:0000347", "HP:0000028", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", - "HP:0004322", - "HP:0003774", - "HP:0025023" - ], - "has_phenotype_label": [ - "Chromosome breakage", - "Hypoplasia of the radius", - "Absent thumb", - "Abnormal heart morphology", - "Small thenar eminence", - "Anal atresia", - "Hydronephrosis", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", - "Short stature", - "Stage 5 chronic kidney disease", - "Rectal atresia" - ], - "has_phenotype_closure": [ - "HP:0012732", - "UBERON:0012361", - "UPHENO:0002714", + "HP:0001510", + "HP:0000125", + "HP:0000414", + "HP:0000957", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", + "HP:0004322", + "HP:0000365", + "HP:0001045" + ], + "has_phenotype_label": [ + "Absent thumb", + "Squamous cell carcinoma", + "Microcephaly", + "Hypoplasia of the radius", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", + "Cryptorchidism", + "Short thumb", + "Growth delay", + "Pelvic kidney", + "Bulbous nose", + "Cafe-au-lait spot", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Vitiligo" + ], + "has_phenotype_closure": [ + "UPHENO:0052160", + "UPHENO:0050106", + "UPHENO:0050620", + "HP:0000364", + "UPHENO:0002267", + "GO:0007605", + "UPHENO:0002386", + "UPHENO:0005596", + "UBERON:0002105", + "UPHENO:0052159", + "UPHENO:0052970", + "UPHENO:0050625", + "UPHENO:0049699", + "HP:0031704", + "UPHENO:0005512", + "GO:0050954", + "UPHENO:0002211", + "UPHENO:0005518", + "UPHENO:0052178", + "UPHENO:0005517", + "UPHENO:0081423", + "UPHENO:0002949", + "UPHENO:0080351", + "UPHENO:0075159", + "GO:0005623", + "UPHENO:0049775", + "UPHENO:0050784", + "UPHENO:0050126", + "HP:0001939", + 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"UBERON:0010314", + "HP:0001873", + "HP:0005561", + "HP:0010987", + "HP:0011893", + "UPHENO:0053644", + "UPHENO:0046397", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "GO:0042592", + "UPHENO:0049743", + "UPHENO:0081786", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0002813", + "UPHENO:0002732", + "HP:0002818", + "HP:0000277", + "UBERON:0011158", + "UPHENO:0087501", + "UPHENO:0076800", + "UPHENO:0002550", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", + "UBERON:0003457", + "UPHENO:0002832", + "UPHENO:0080010", + "HP:0032251", + "UPHENO:0002988", + "HP:0034261", "HP:0009777", "UBERON:0004921", - "UBERON:0000160", - "HP:0025023", - "HP:0002034" + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0002971", + "UPHENO:0088116", + "UPHENO:0002838", + "HP:0009122", + "UPHENO:0049904", + "HP:0025031", + "HP:0000347", + "UPHENO:0076803", + "UPHENO:0002815", + "UBERON:0010313", + "UBERON:0004288", + "UPHENO:0002830", + "UPHENO:0046405", + "UBERON:0011595", + "UBERON:0012360", + "HP:0011821", + "UBERON:0001710", + "UBERON:0013522", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0000473", + "UPHENO:0053563", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UPHENO:0003055" ], "has_phenotype_closure_label": [ - "Anorectal anomaly", - "rectum atresia", - "Rectal atresia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "internal anal region", - "abnormal rectum", - "Metazoa", - "lower digestive tract", - "intestine", - "rectum", - "large intestine", - "Morphological abnormality of the gastrointestinal tract", - "abnormal alimentary part of gastrointestinal system", - "subdivision of tube", - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormality of the gastrointestinal tract", - "Abnormal renal physiology", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", - "Chronic kidney disease", - "Abnormality of the urinary system physiology", - "Abnormality of body height", + "ear", + "sensory perception", + "sense organ physiology phenotype", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "material anatomical entity physiology phenotype", + "Abnormal ear physiology", + "sensory perception of sound", + "multicellular organismal process", + "decreased sensory perception of sound", + "decreased qualitatively system process", + "nervous system process phenotype", + "decreased qualitatively sensory perception of sound", + "multicellular organismal process phenotype", + "sensory perception phenotype", + "Hearing abnormality", + "system process", + "decreased qualitatively sensory perception of mechanical stimulus", + "multicellular anatomical structure physiology phenotype", + "ear physiology phenotype", + "vestibulo-auditory system", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "nervous system process", + "Hearing impairment", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "Short stature", + "size of multicellular organism phenotype", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", + "regulation of biological process", + "programmed DNA elimination by chromosome breakage", + "negative regulation of gene expression", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal cellular physiology", + "negative regulation of cellular process phenotype", "decreased height of the anatomical entity", - "digestive system element", + "regulation of cellular process", + "negative regulation of biological process", + "negative regulation of macromolecule metabolic process phenotype", + "3-D shape anatomical entity", + "concave 3-D shape anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", + "decreased size of the anatomical conduit", + "decreased length of ectoderm-derived structure", + "decreased length of palpebral fissure", + "decreased sensory perception", + "decreased length of orifice", + "erythroid lineage cell morphology phenotype", + "Abnormal skin morphology", + "increased biological_process", + "biological_process rate phenotype", + "pigmentation", + "increased qualitatively biological_process", + "Localized skin lesion", + "Hypermelanotic macule", + "Hyperpigmentation of the skin", + "regulation of cellular metabolic process", + "pigmentation phenotype", + "Cafe-au-lait spot", + "Macule", + "nose phenotype", + "increased size of the multicellular anatomical structure", + "Abnormality of the nose", + "nose", + "increased size of the organ", + "olfactory organ", + "immaterial anatomical entity", + "external nose morphology phenotype", + "increased size of the sense organ", + "Abnormal nasal tip morphology", + "nose tip morphology phenotype", + "increased size of the anatomical structure", + "external nose", + "increased size of the organism subdivision", + "sense organ phenotype", + "Abnormality of chromosome stability", + "immaterial entity", + "increased volume of nose", + "Abnormal external nose morphology", + "upper urinary tract phenotype", + "abdomen element phenotype", + "renal system", + "excretory system", + "trunk", + "abdominal segment element", + "Abnormality of the kidney", + "localised cavitated compound organ", + "localised lateral structure", + "negative regulation of gene expression phenotype", + "localised compound organ", + "Chromosome breakage", + "trunk region element phenotype", + "compound organ phenotype", + "biological regulation", + "abdominal segment of trunk", + "localised trunk region element", + "Abnormal localization of kidney", + "cavitated compound organ phenotype", + "renal system phenotype", + "Abnormal renal morphology", + "Abnormality of the upper urinary tract", + "abdomen element", + "process", + "occurrent", + "growth phenotype", + "kidney", "Growth delay", - "growth", - "decreased size of the multicellular organism", - "Renal cyst", - "intestine atresia", - "Proximal placement of thumb", - "deviation of manual digit", + "delayed biological_process", + "trunk region element", + "decreased size of the manual digit", + "decreased length of digit 1", "Short digit", - "Eumetazoa", - "Eukaryota", + "decreased length of manual digit 1 or 5", + "Short thumb", "decreased length of manual digit", - "decreased length of manual digit 1", + "decreased size of the organism subdivision", + "negative regulation of metabolic process phenotype", "Short finger", - "Abnormality of the genital system", - "abnormal reproductive system", - "internal male genitalia", - "testis", - "abnormally localised testis", - "Azoospermia", - "Abnormality of the male genitalia", + "multicellular organism phenotype", + "decreased length of anatomical conduit", + "external genitalia phenotype", + "Abnormal external genitalia", + "localised testis", + "external male genitalia phenotype", + "male reproductive organ phenotype", + "Irregular hyperpigmentation", "male organism", - "obsolete multicellular organism reproduction", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "male germ cell", - "abnormality of multicellular organism height", - "male gamete", - "semen", - "absent anatomical entity in the semen", - "abnormal multicellular organismal reproductive process", - "developmental process", - "reproductive process", - "abnormal number of anatomical enitites of type sperm", - "abnormally localised anatomical entity in independent continuant", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormal internal genitalia", - "abnormal number of anatomical enitites of type cell", - "external genitalia", - "internal genitalia", - "gonad", - "organism substance", - "abnormal gamete", - "sperm", - "reproduction", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", - "absent gamete", - "germ cell", - "Abnormality of reproductive system physiology", - "gamete", "reproductive structure", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "male reproductive system", - "spermatogenesis", - "gamete generation", - "abnormally localised anatomical entity", - "abnormal male reproductive system", - "decreased developmental process", - "reproductive organ", - "developmental process involved in reproduction", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal spermatogenesis", - "absent germ cell", - "changed biological_process rate", - "abnormal renal system morphology", - "abnormally dilated renal pelvis", - "abnormal late embryo", - "Fetal pyelectasis", - "renal pelvis/ureter", - "Abnormal renal pelvis morphology", - "Abnormal fetal morphology", - "multi-tissue structure", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of the kidney", - "embryo", - "renal pelvis", - "kidney", - "sexual reproduction", - "abnormal genitourinary system", - "decreased length of digit", - "anatomical cluster", - "increased size of the anatomical entity in independent continuant", - "late embryo", - "abdominal segment of trunk", - "abnormal renal pelvis", - "abdomen", - "disconnected anatomical group", - "Abnormality of prenatal development or birth", - "Abnormal fetal genitourinary system morphology", - "abnormal renal system", - "Abnormal renal morphology", - "renal system", - "organ part", - "increased size of the renal pelvis", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", - "abnormal external male genitalia", - "Fetal anomaly", - "upper urinary tract", - "Anal atresia", - "Dilatation of the renal pelvis", - "anus atresia", - "anus", - "abnormal digestive system", - "abnormal closing of the anatomical entity", - "Neoplasm by anatomical site", - "deviation of manual digit 1", - "digestive tract", - "abnormal digestive system morphology", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "abnormal anus", - "multicellular organismal reproductive process", - "anatomical conduit", - "digestive system", - "Abnormality of the musculature of the limbs", - "musculature of manus", - "abnormal musculature of limb", - "cavitated compound organ", - "abnormal musculature of upper limb", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "tube", - "abnormal muscle organ morphology", - "Abnormality of the musculature of the hand", - "musculature of body", - "haploid cell", - "appendage musculature", - "Abnormality of the musculature of the upper limbs", - "Abnormal rectum morphology", + "localised material anatomical entity", + "genitourinary system", + "reproductive system", + "gonad phenotype", + "reproductive system phenotype", + "external genitalia", + "localised abdomen element", "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "Abnormal palm morphology", - "musculature", - "Abnormality of the thenar eminence", - "germ line cell", - "thenar eminence hypoplasia", - "abnormal musculature", - "musculature of upper limb", - "excretory system", - "Fetal ultrasound soft marker", - "circulatory system", - "abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "delayed growth", - "abnormal cardiovascular system", - "Abnormal heart morphology", - "circulatory organ", - "viscus", - "Gastrointestinal atresia", - "trunk", - "decreased spermatogenesis", - "abnormal kidney morphology", + "localised male reproductive organ", + "localised organ", + "multicellular organism morphology phenotype", + "sensory system", + "craniocervical region phenotype", "main body axis", - "subdivision of organism along main body axis", - "Cryptorchidism", - "heart plus pericardium", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "forelimb long bone", - "limb segment", - "abnormal anatomical entity morphology in the independent continuant", + "localised multicellular anatomical structure", + "Growth abnormality", + "axial skeletal system", + "head phenotype", + "skeleton phenotype", + "organism", + "Neoplasm of the skin", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "decreased length of bone of pectoral complex", + "nose tip", + "subdivision of organism along main body axis phenotype", + "craniocervical region", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of telencephalon", + "decreased multicellular organismal process", + "root", + "appendage", + "anatomical entity phenotype", + "decreased length of organ", + "forebrain morphology phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "Decreased head circumference", + "central nervous system morphology phenotype", + "Abnormality of the nervous system", + "anatomical conduit phenotype", + "postcranial axial skeleton", + "number of hematopoietic cell phenotype", + "nervous system phenotype", + "All", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "anatomical conduit", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "craniocervical region morphology phenotype", + "aplasia or hypoplasia of skeleton", + "Neoplasm", + "ectoderm-derived structure phenotype", + "skin of body phenotype", + "negative regulation of metabolic process", + "shape kidney", + "manual digit 1 or 5", + "nervous system morphology phenotype", + "digit 1 phenotype", + "digit phenotype", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "visual system", + "kidney morphology phenotype", + "postcranial axial skeletal system", + "limb phenotype", + "paired limb/fin skeleton", + "subdivision of skeletal system phenotype", + "renal system morphology phenotype", + "radius bone morphology phenotype", + "Abnormal myeloid cell morphology", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "facial skeleton", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "membrane bone phenotype", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", + "entity", + "endochondral bone phenotype", + "absent material anatomical entity in the limb", + "dermal bone", + "size of anatomical entity phenotype", + "Abnormality of skin pigmentation", + "bone of jaw phenotype", + "phenotypic effect", + "autopod region morphology phenotype", + "cellular organisms", + "number of cell phenotype", + "Metazoa", + "Abnormal hand morphology", + "external soft tissue zone", + "skeletal system phenotype", + "digit plus metapodial segment", + "mouth", + "Absent thumb", + "bone of free limb or fin", + "Bulbous nose", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "manual digit morphology in the manus phenotype", + "forelimb zeugopod morphology phenotype", + "decreased number of anatomical structure", + "head bone phenotype", + "skeleton of pectoral complex", + "erythrocyte morphology phenotype", + "paired limb/fin segment", + "Opisthokonta", + "decreased length of endochondral bone", + "compound organ", + "eye", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "decreased size of the palpebral fissure", + "cranial skeletal system", + "multicellular anatomical structure phenotype", + "bone element phenotype", + "dermatocranium", + "pectoral complex", + "absent multicellular anatomical structure in the multicellular organism", + "head", + "upper limb segment phenotype", + "endochondral element phenotype", + "manual digit 1 morphology phenotype", + "forebrain", + "regional part of brain phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "orbital region phenotype", + "skeleton of limb", + "skin of body morphology phenotype", + "material anatomical entity", + "structure with developmental contribution from neural crest phenotype", + "integument phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "absent anatomical structure in the forelimb", + "bone marrow cell", + "bone of pectoral complex phenotype", + "increased size of the ectoderm-derived structure", + "localised kidney", + "absent anatomical structure", + "reproductive organ phenotype", + "decreased size of the skeletal element", + "appendicular skeleton", + "upper limb segment", + "arm phenotype", + "hematopoietic system", + "segment of manus", + "protein-containing material entity", + "manual digit plus metapodial segment", + "anatomical system phenotype", + "sense organ", + "limb endochondral element", + "agenesis of anatomical entity", + "skeleton of manus", + "musculoskeletal system", + "Aplasia/Hypoplasia of facial bones", + "phenotype", + "Abnormal cell morphology", + "head bone morphology phenotype", + "Abnormal limb bone morphology", + "absent digit", + "arm", + "autopodial extension phenotype", + "manual digit", + "subdivision of trunk", + "Abnormal thumb morphology", + "continuant", + "entire sense organ system", + "absent material anatomical entity in the forelimb", + "Abnormal appendicular skeleton morphology", + "limb segment phenotype", + "Abnormal cerebral morphology", + "arm bone", + "absent organism subdivision in the multicellular organism", + "autopod region phenotype", + "increased pigmentation", + "material anatomical entity phenotype", + "forelimb long bone phenotype", + "skeletal system", + "motile cell", + "decreased size of the digit", + "paired limb/fin", + "Hypoplasia of the radius", + "manus phenotype", "multicellular anatomical structure", - "forelimb endochondral element", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "abnormality of internal male genitalia physiology", - "organism subdivision", - "anatomical entity hypoplasia in independent continuant", - "decreased length of forelimb zeugopod bone", - "musculature of limb", - "negative regulation of biosynthetic process", - "Abnormality of the anus", - "organ system subdivision", - "radius endochondral element", - "abnormal arm", "absent anatomical entity in the forelimb", - "external soft tissue zone", - "palmar/plantar part of autopod", - "Abnormality of limb bone", - "Abnormality of the musculoskeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "terminal part of digestive tract", - "absent anatomical entity in the limb", - "abnormal forelimb morphology", - "abnormal skeletal system", + "regulation of metabolic process", + "decreased size of the ectoderm-derived structure", "autopodial extension", - "abnormal long bone morphology", - "forelimb zeugopod bone", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "subdivision of organism along appendicular axis", - "radius bone hypoplasia", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "programmed DNA elimination", - "digit", - "anatomical entity", - "palmar part of manus", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the palmar part of manus", - "subdivision of trunk", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "Aplasia/Hypoplasia of the mandible", + "mesoderm-derived structure phenotype", + "neoplasm phenotype", + "aplasia or hypoplasia of mandible", + "bone element", + "intramembranous bone phenotype", + "lateral structure", + "Squamous cell carcinoma", + "mesoderm-derived structure", + "organ system subdivision", + "erythrocyte", + "musculature", + "regional part of brain", + "number of anatomical enitites of type organism subdivision phenotype", + "limb endochondral element phenotype", + "anatomical structure", + "anatomical entity physiology phenotype", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "forelimb endochondral element", + "Abnormality of the skin", + "paired limb/fin phenotype", + "taxon specific phenotype", + "regional part of nervous system phenotype", + "skeletal element", + "regulation of biosynthetic process phenotype", + "zeugopod", "absent manual digit", - "abnormal phenotype by ontology source", - "Growth abnormality", - "abnormal palmar part of manus morphology", - "programmed DNA elimination by chromosome breakage", - "abnormal cell", - "regulation of macromolecule biosynthetic process", - "alimentary part of gastrointestinal system", - "Abnormal reproductive system morphology", - "muscle organ", - "abnormal anatomical entity length", - "orifice", - "DNA metabolic process", - "organ", - "occurrent", - "upper limb segment", - "appendicular skeleton", - "obsolete heterocycle metabolic process", - "non-functional anatomical entity", - "thoracic segment organ", - "aplasia or hypoplasia of radius bone", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormal upper limb bone morphology", - "abnormality of kidney physiology", - "negative regulation of cellular biosynthetic process", - "root", - "appendage", - "Abnormal internal genitalia", - "regulation of cellular process", - "abnormal growth", + "limb segment", + "forelimb morphology phenotype", + "decreased sensory perception of mechanical stimulus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "nose morphology phenotype", + "Pelvic kidney", + "telencephalon phenotype", + "male reproductive system phenotype", + "sensory perception of mechanical stimulus phenotype", "independent continuant", - "reproductive system", - "organic cyclic compound metabolic process", - "segment of autopod", - "abnormal intestine morphology", + "facial skeleton morphology phenotype", "aplastic manual digit 1", - "deviation of anatomical entity", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "obsolete cellular aromatic compound metabolic process", - "Abnormality of limbs", - "male reproductive organ", - "cellular component organization or biogenesis", - "abnormal testis morphology", - "forelimb zeugopod", - "continuant", - "Chromosome breakage", - "abnormal chromatin organization", - "decreased size of the anatomical entity in the pectoral complex", + "dentary", + "anatomical entity morphology in the manus phenotype", + "segment of autopod", + "anatomical system", + "absent multicellular anatomical structure in the forelimb", + "limb bone morphology phenotype", + "palpebral fissure", + "decreased size of the forelimb endochondral element", + "bone element hypoplasia in face", + "Abnormal forebrain morphology", "forelimb", "Abnormal skeletal morphology", - "material entity", - "abnormal spatial pattern of anatomical entity", - "protein-containing complex organization", - "limb bone", - "increased size of the anatomical entity", - "abnormal limb bone", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "metabolic process", - "musculature of pectoral complex", - "thoracic cavity element", - "multicellular organism", - "absent anatomical entity in the multicellular organism", - "abnormal organelle organization", - "cellular organisms", - "Abnormality of the musculature", - "thoracic segment of trunk", - "abnormal digit", - "obsolete nitrogen compound metabolic process", - "abnormal limb bone morphology", - "phenotype", - "nucleobase-containing compound metabolic process", - "absent digit", - "decreased height of the multicellular organism", - "Short long bone", - "male gamete generation", - "skeleton", - "Abnormal external genitalia", - "negative regulation of biological process", - "Abnormal large intestine morphology", - "abnormal anatomical entity morphology", - "arm bone", - "specifically dependent continuant", + "decreased size of the anatomical entity in the pectoral complex", + "size of skull phenotype", + "Abnormal facial skeleton morphology", + "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "bone of appendage girdle complex phenotype", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abdomen", + "manual digit 1 plus metapodial segment", + "dermal skeletal element phenotype", + "paired limb/fin segment phenotype", + "ectoderm-derived structure", + "decreased length of limb bone", + "Abnormal digit morphology", + "head morphology phenotype", + "forelimb skeleton", + "Aplasia/hypoplasia involving the skeleton", "decreased qualitatively biological_process", - "abnormal cellular component organization", - "Deviation of the hand or of fingers of the hand", - "abnormal primary metabolic process", - "pectoral appendage", + "ear phenotype", + "anatomical entity", + "pectoral appendage skeleton", + "Vitiligo", + "Short palpebral fissure", + "decreased size of the limb endochondral element", + "acropodium region", + "bone marrow", + "dermal skeletal element", + "subdivision of organism along main body axis", + "kidney phenotype", + "skeletal system morphology phenotype", + "manus", + "increased size of the material anatomical entity", + "increased size of the anatomical entity", + "limb", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "Abnormality of limbs", + "number of anatomical enitites of type material anatomical entity phenotype", "body proper", - "alimentary part of gastrointestinal system atresia", - "cellular component organization", - "Deviation of finger", - "negative regulation of metabolic process", - "Aplasia/hypoplasia involving bones of the upper limbs", - "cellular metabolic process", - "abnormal forelimb zeugopod morphology", - "anatomical entity hypoplasia", - "Short stature", - "decreased biological_process", + "regulation of gene expression", + "pectoral appendage", + "Microcephaly", + "multi-tissue structure phenotype", + "Abnormality of the musculoskeletal system", + "increased size of the nose", + "Abnormal cellular immune system morphology", + "absent multicellular anatomical structure in the limb", + "digit morphology phenotype", + "Abnormality of the ocular adnexa", + "decreased number of cell", + "Micrognathia", + "Abnormal mandible morphology", "Aplasia/hypoplasia of the extremities", - "negative regulation of cellular process", - "decreased qualitatively reproductive process", - "genitourinary system", - "forelimb skeleton", - "absent sperm in the semen", - "Hydronephrosis", - "decreased length of anatomical entity", - "abnormal cellular process", - "heart", - "abnormal manual digit morphology in the manus", - "radius bone", - "abnormal DNA metabolic process", - "organic substance metabolic process", - "Abnormal cellular physiology", - "acropodium region", - "regulation of biological process", - "changed developmental process rate", - "lateral structure", - "Non-obstructive azoospermia", - "biological regulation", - "regulation of cellular biosynthetic process", - "forelimb zeugopod skeleton", - "abnormal limb morphology", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "abnormality of renal system physiology", + "Hypoplastic facial bones", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "absent organism subdivision", + "skeleton", + "immune system phenotype", + "anatomical collection phenotype", "quality", - "Small thenar eminence", - "obsolete cellular nitrogen compound metabolic process", - "organelle organization", - "regulation of gene expression", - "abdomen element", - "negative regulation of cellular metabolic process", - "appendicular skeletal system", - "anatomical structure", - "Abnormal anus morphology", - "protein-DNA complex organization", - "arm", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal manus", - "appendage girdle complex", - "macromolecule metabolic process", - "Abnormality of digestive system morphology", - "thenar eminence", - "abnormal limb", - "manus", - "abnormal biological_process", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "negative regulation of gene expression", - "Abnormality of the digestive system", - "regulation of macromolecule metabolic process", - "Abnormal long bone morphology", - "skeleton of limb", - "pectoral appendage musculature", - "abnormal metabolic process", - "external male genitalia", - "chromatin organization", - "muscle structure", - "material anatomical entity", - "biological_process", - "abdominal segment element", - "abnormal thenar eminence", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "Hypoplasia of the radius", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "abnormal cellular metabolic process", - "All", - "anatomical collection", - "abnormal programmed DNA elimination by chromosome breakage", - "process", - "nucleic acid metabolic process", - "zeugopod", - "skeletal element", - "abnormality of anatomical entity height", + "decreased number of platelet", + "organ physiology phenotype", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "absent autopodial extension", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal upper urinary tract", - "musculoskeletal system", - "Limb undergrowth", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "long bone", - "primary metabolic process", - "decreased length of long bone", - "skeletal system", - "abnormal size of multicellular organism", - "bone element", - "endochondral element", - "multi-limb segment region", - "Opisthokonta", - "paired limb/fin segment", - "abnormal cardiovascular system morphology", - "bone element hypoplasia in independent continuant", - "negative regulation of macromolecule biosynthetic process", "Aplasia/hypoplasia involving bones of the hand", - "subdivision of digestive tract", - "delayed biological_process", - "Short forearm", - "limb endochondral element", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "mesoderm-derived structure", - "cell", - "Abnormality of the upper limb", - "limb", - "aplasia or hypoplasia of skeleton", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "Upper limb undergrowth", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "manual digit plus metapodial segment", - "abnormal radius bone morphology", + "absent material anatomical entity", + "digit 1 plus metapodial segment", + "telencephalon morphology phenotype", + "integumental system", + "absent anatomical entity", + "anatomical entity morphology in the pectoral complex phenotype", + "musculature phenotype", + "aplasia or hypoplasia of skull", + "number of anatomical enitites of type anatomical entity phenotype", + "external male genitalia", + "organism subdivision", + "digit 1 or 5 phenotype", + "telencephalon", + "multi-limb segment region", + "regulation of gene expression phenotype", "system", - "aplasia or hypoplasia of manual digit 1", - "subdivision of skeleton", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "anatomical system", - "anal region", - "paired limb/fin skeleton", - "compound organ", - "obsolete cell", + "brain morphology phenotype", + "Abnormality of the integument", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "brain", + "regional part of nervous system", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "Abnormality of head or neck", + "Abnormal skull morphology", + "decreased number of hematopoietic cell", + "skeleton of lower jaw", + "Abnormal brain morphology", + "testis phenotype", + "mandible", + "location of anatomical entity phenotype", + "limb skeleton subdivision", + "skull", + "bone of pectoral complex", + "decreased length of anatomical entity", + "primary subdivision of cranial skeletal system", + "homeostatic process phenotype", + "Abnormality of limb bone", + "central nervous system", + "decreased length of forelimb bone", + "decreased length of bone element", + "limb long bone morphology phenotype", + "increased biological_process in skin of body", + "localised anatomical entity", + "decreased size of the multicellular anatomical structure", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "Forearm undergrowth", + "decreased size of the anatomical entity", "zeugopodial skeleton", "limb long bone", - "Abnormality of the urinary system", + "forelimb long bone", + "Abnormal forearm morphology", + "Anemia", + "Abnormality of the hand", + "radius bone", + "Limb undergrowth", + "radius endochondral element", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "camera-type eye", + "decreased length of skeletal element", + "Abnormality of the orbital region", + "forelimb zeugopod bone hypoplasia", + "decreased size of the organ", + "decreased size of the endochondral bone", + "forelimb zeugopod", + "decreased size of the bone of pectoral complex", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "decreased size of the bone of free limb or fin", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased length of anatomical structure", + "renal/urinary system phenotype", "forelimb bone", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "manual digit", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormal appendicular skeleton morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "digit 1", - "aplasia or hypoplasia of manual digit", - "organism", - "autopod region", - "digit plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "manual digit 1 plus metapodial segment", - "cardiovascular system", + "anatomical entity hypoplasia", + "axial skeleton plus cranial skeleton", + "decreased size of the limb bone", + "oxygen accumulating cell", + "multi-tissue structure", + "limb long bone phenotype", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "nervous system", + "forelimb zeugopod bone", + "appendage girdle complex", + "subdivision of head", + "decreased length of multicellular anatomical structure", + "digestive system element", + "radius bone phenotype", + "Abnormality of the head", + "multi organ part structure phenotype", + "negative regulation of macromolecule metabolic process", + "decreased length of mesoderm-derived structure", + "decreased length of forelimb zeugopod bone", + "size of palpebral fissure phenotype", + "forelimb bone phenotype", + "Short forearm", + "regulation of cellular biosynthetic process phenotype", + "subdivision of digestive tract", + "decreased length of material anatomical entity", + "neural crest-derived structure", + "digestive system element phenotype", + "decreased size of the long bone", + "decreased size of the material anatomical entity", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "decreased size of the forelimb bone", + "Abnormal size of the palpebral fissures", + "delayed growth", + "arm bone phenotype", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "decreased size of the arm bone", + "Abnormality of the genitourinary system", + "blood cell", + "head bone", + "decreased size of the bone of appendage girdle complex", + "bone of craniocervical region phenotype", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "increased volume of anatomical entity", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "membrane bone", + "bone of pectoral complex morphology phenotype", + "organ", + "decreased size of the anatomical structure", + "decreased length of forelimb endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "U-shaped anatomical entity", + "long bone phenotype", + "olfactory organ phenotype", + "reproductive organ", + "Short long bone", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "face morphology phenotype", + "aplasia or hypoplasia of manual digit 1", + "dermal skeleton", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "multi organ part structure", + "multi-limb segment region phenotype", + "hemolymphoid system", + "male reproductive organ", + "disconnected anatomical group", + "eyelid morphology phenotype", + "orifice phenotype", + "palpebral fissure phenotype", + "non-connected functional system", + "orifice", + "decreased size of the endochondral element", + "orbital region", + "Blepharophimosis", + "face phenotype", + "camera-type eye morphology phenotype", + "Abnormality of the palpebral fissures", + "ocular adnexa phenotype", + "Abnormal eyelid morphology", + "Abnormal ocular adnexa morphology", + "decreased system process", + "organ part", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "eyelid", + "ocular adnexa", + "decreased size of the material anatomical entity in the pectoral complex", + "Abnormality of the face", + "shape of continuant phenotype", + "anucleate cell", + "reproductive structure phenotype", + "nucleate cell", + "eukaryotic cell", + "craniofacial/craniocervical phenotype", + "serotonin secreting cell", + "anatomical point", + "decreased number of anatomical entity", + "obsolete cell", + "programmed DNA elimination", + "decreased length of long bone", + "anatomical entity morphology phenotype", + "digestive system", + "platelet", + "Ectopic kidney", + "immune system morphology phenotype", + "cavitated compound organ", + "Abnormal leukocyte count", + "Abnormal cellular phenotype", + "integument", + "platelet phenotype", + "number of myeloid cell phenotype", + "number of platelet phenotype", + "Abnormal immune system morphology", + "decreased number of material anatomical entity", + "decreased number of myeloid cell", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "number of anatomical enitites of type anatomical structure phenotype", + "Abnormal bone marrow cell morphology", + "digestive system phenotype", + "Abnormal platelet count", + "subdivision of head phenotype", + "blood cell phenotype", + "limb bone phenotype", + "secretory cell", + "hematopoietic system phenotype", + "forelimb zeugopod bone morphology phenotype", + "tissue", + "leukocyte", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "upper urinary tract", + "decreased length of digit", + "Abnormality of the male genitalia", "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "anterior region of body", - "aplastic anatomical entity", - "abnormal autopod region morphology", - "bone of free limb or fin", - "Absent thumb", - "pectoral appendage skeleton", - "abnormal manus morphology", - "skeleton of manus", - "abnormal digit morphology", - "digit 1 plus metapodial segment", - "agenesis of anatomical entity", - "Abnormality of the hand", - "Abnormal finger morphology", - "cellular process", - "Abnormal digit morphology", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "absent anatomical entity", - "Short thumb", - "abnormal manual digit 1 morphology", - "abnormal manual digit morphology in the independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "primary circulatory organ", + "Abnormality of blood and blood-forming tissues", + "organ phenotype", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "decreased length of organism subdivision", + "bone of lower jaw", + "mandible hypoplasia", + "anatomical structure physiology phenotype", + "facial bone phenotype", + "Abnormality of the digestive system", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "digestive system morphology phenotype", + "decreased size of the autopodial extension", + "Abnormal jaw morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "increased size of the olfactory organ", + "decreased length of autopodial extension", + "organ part phenotype", + "cell phenotype", + "anatomical entity hypoplasia in face", + "skull phenotype", + "Abnormal digestive system morphology", + "decreased length of limb endochondral element", + "dentary phenotype", + "jaw skeleton morphology phenotype", + "digestive tract", + "limb bone", + "subdivision of digestive tract phenotype", + "U-shaped kidney", "digit 1 or 5", - "abnormal male reproductive organ morphology", - "autopodial skeleton", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "Finger aplasia", - "pectoral complex", - "trunk region element" + "bone of jaw", + "manus morphology phenotype", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "biological_process", + "genitourinary system phenotype", + "mouth morphology phenotype", + "neural crest-derived structure phenotype", + "decreased size of the orifice", + "immune system", + "facial bone", + "gonad", + "localised gonad", + "Upper limb undergrowth", + "Abnormality of thrombocytes", + "jaw skeleton", + "lateral structure phenotype", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "mandible phenotype", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", + "mandible morphology phenotype", + "bone of lower jaw phenotype", + "Abnormality of body height", + "tube", + "mouth phenotype", + "localised abdominal segment element", + "primary subdivision of skull", + "absent anatomical structure in the limb", + "dermal bone phenotype", + "subdivision of tube phenotype", + "Abnormal oral morphology", + "cell", + "Abnormality of the mouth", + "lower jaw region", + "Pancytopenia", + "subdivision of organism along appendicular axis phenotype", + "jaw region", + "localised anatomical structure", + "Abnormal reproductive system morphology", + "decreased length of bone of appendage girdle complex", + "Abnormal male external genitalia morphology", + "intramembranous bone", + "Abnormality of the genital system", + "testis", + "skull morphology phenotype", + "localised reproductive structure", + "Cryptorchidism", + "subdivision of tube", + "localised reproductive organ", + "male reproductive system" ], - "has_phenotype_count": 15, + "has_phenotype_count": 20, "highlight": null, "score": null }, @@ -11364,7 +13572,12 @@ "full_name": null, "deprecated": null, "description": null, - "xref": ["DOID:0080757", "OMIM:134600"], + "xref": [ + "DOID:0080757", + "MEDGEN:1635492", + "OMIM:134600", + "UMLS:C4551503" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, @@ -11385,10 +13598,10 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ + "HP:0002749", "HP:0001942", "HP:0003648", - "HP:0001324", - "HP:0002749", + "HP:0003155", "HP:0002148", "HP:0000124", "HP:0003109", @@ -11396,17 +13609,17 @@ "HP:0002748", "HP:0034359", "HP:0003076", - "HP:0003155", + "HP:0000083", "HP:0003355", "HP:0004322", "HP:0003126", - "HP:0000083" + "HP:0001324" ], "has_phenotype_label": [ + "Osteomalacia", "Metabolic acidosis", "Lacticaciduria", - "Muscle weakness", - "Osteomalacia", + "Elevated circulating alkaline phosphatase concentration", "Hypophosphatemia", "Renal tubular dysfunction", "Hyperphosphaturia", @@ -11414,714 +13627,730 @@ "Rickets", "Impaired renal tubular reabsorption of phosphate", "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", + "Renal insufficiency", "Aminoaciduria", "Short stature", "Low-molecular-weight proteinuria", - "Renal insufficiency" + "Muscle weakness" ], "has_phenotype_closure": [ + "UPHENO:0002359", + "HP:0003011", + "UPHENO:0080555", + "HP:0001324", + "HP:0000093", + "CHEBI:16541", "CHEBI:37622", - "UPHENO:0068247", "UPHENO:0068565", - "CHEBI:16541", - "CHEBI:32988", - "CHEBI:15841", "CHEBI:16670", - "UPHENO:0020584", + "CHEBI:15841", + "UPHENO:0075195", + "UPHENO:0069327", "GO:0040007", - "UPHENO:0049874", "UPHENO:0081424", - "UPHENO:0000541", + "UPHENO:0069062", "UPHENO:0069254", - "UPHENO:0086132", - "UPHENO:0075195", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0000541", + "UPHENO:0049874", "UPHENO:0075159", - "UPHENO:0051670", - "CHEBI:35605", - "CHEBI:36587", - "UPHENO:0068538", - "UPHENO:0068040", - "UPHENO:0068169", "HP:0003355", - "CHEBI:24651", - "CHEBI:33575", - "UPHENO:0068495", + "CHEBI:33674", "UPHENO:0046286", - "CHEBI:33608", "UPHENO:0068144", - "UPHENO:0068091", + "UPHENO:0068169", "HP:0031980", + "CHEBI:33575", "CHEBI:33709", - "CHEBI:50047", - "HP:0004379", - "UPHENO:0081777", - "UPHENO:0068971", - "CHEBI:33695", - "UPHENO:0082943", - "PR:000064867", - "CHEBI:35352", - "UPHENO:0075666", - "CHEBI:51143", - "CHEBI:33694", - "UPHENO:0046362", - "HP:0012379", - "PR:000018263", + "CHEBI:33608", + "CHEBI:24651", + "CHEBI:72695", + "CHEBI:35605", + "HP:0025745", + "CHEBI:18133", + "CHEBI:36962", + "CHEBI:25806", + "UPHENO:0068054", + "CHEBI:35381", "UPHENO:0080658", "UPHENO:0000543", "HP:0003076", - "HP:0000002", - "HP:0033354", - "UPHENO:0068054", - "CHEBI:33285", - "CHEBI:50860", - "CHEBI:36962", - "CHEBI:25806", - "CHEBI:18133", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0051960", - "GO:0050801", - "BFO:0000003", - "HP:0002148", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0050080", - "GO:0001503", - "HP:0000118", - "UBERON:0001434", - "UBERON:0002204", - "HP:0011849", - "UPHENO:0048707", + "HP:0034359", + "UPHENO:0051191", + "GO:0003014", + "CHEBI:33917", + "HP:0011038", + "HP:0011036", + "UPHENO:0050106", + "UPHENO:0049703", + "UPHENO:0051280", "GO:0003008", - "HP:0004349", - "BFO:0000040", - "UPHENO:0082834", - "UPHENO:0034391", - "HP:0004360", - "UPHENO:0002964", - "UPHENO:0082542", - "HP:0000119", - "HP:0003330", - "HP:0034684", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "UPHENO:0082835", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", - "HP:0000093", - "GO:0055062", + "CHEBI:25367", + "HP:0011042", + "UPHENO:0089770", + "UPHENO:0089756", + "CHEBI:60242", + "CHEBI:36586", + "CHEBI:33521", + "CHEBI:24835", "UPHENO:0034253", + "UBERON:0005090", + "UBERON:0000468", "UBERON:0002417", "CHEBI:22314", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0068292", - "UBERON:0000468", - "UBERON:0005090", - "HP:0000083", - "GO:0032501", - "HP:0011804", - "UPHENO:0052008", + "HP:0004379", + "HP:0000079", + "CHEBI:50860", + "UPHENO:0068971", + "CHEBI:33695", + "GO:0001503", + "CHEBI:36357", + "PR:000018263", + "HP:0012379", + "BFO:0000020", + "UPHENO:0068491", + "CHEBI:36360", + "UPHENO:0066964", + "CHEBI:50047", + "HP:0012337", + "CHEBI:33675", + "UPHENO:0003047", + "CHEBI:33694", "CHEBI:23367", - "UPHENO:0076289", - "HP:0001324", - "UBERON:0011216", - "CHEBI:33504", + "PR:000064867", + "UBERON:0009773", + "HP:6000531", + "UPHENO:0068352", + "CHEBI:35352", + "UPHENO:0002963", + "HP:0100529", + "UBERON:0006555", "BFO:0000004", "UPHENO:0080352", "UBERON:0000179", - "UPHENO:0051635", - "UBERON:0000383", - "UPHENO:0001005", - "UPHENO:0004459", - "GO:0098771", - "UPHENO:0077821", - "CHEBI:36357", - "UBERON:0001630", - "HP:0033127", - "CHEBI:33259", - "UBERON:0001088", - "UPHENO:0002442", - "PATO:0000001", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0084653", - "UPHENO:0002320", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "UPHENO:0046283", - "HP:0011277", "CHEBI:33302", + "UPHENO:0002269", "UBERON:8450002", - "UPHENO:0051801", "CHEBI:60911", + "CHEBI:32988", + "UPHENO:0081581", "HP:0000001", - "UPHENO:0001002", - "CHEBI:60242", - "UPHENO:0086128", - "UPHENO:0049587", - "GO:0008152", + "GO:0070293", + "UBERON:0004111", + "UPHENO:0046383", + "HP:0032943", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0002731", + "UPHENO:0002426", "UPHENO:0046284", - "HP:0004348", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0075666", + "UPHENO:0002411", + "UPHENO:3000004", + "UPHENO:0002427", + "HP:0000119", + "UPHENO:0002964", + "UBERON:0001088", "HP:0012072", - "CHEBI:36080", - "UBERON:0006314", - "UBERON:0001015", - "CHEBI:37247", + "CHEBI:36587", + "UPHENO:0089294", + "UBERON:0004120", + "HP:0001939", + "GO:0008152", + "UPHENO:0002385", + "UPHENO:0049587", + "HP:0004360", + "CHEBI:51143", + "UPHENO:0002346", + "HP:0001942", "UPHENO:0068511", "BFO:0000002", - "HP:0001942", - "CHEBI:33238", - "UPHENO:0049628", - "UBERON:0000174", - "HP:0000924", - "BFO:0000020", - "UPHENO:0012541", - "UPHENO:0068491", - "CHEBI:36360", + "UPHENO:0002559", + "UPHENO:0049904", + "UBERON:0001434", + "UPHENO:0081777", + "UPHENO:0002636", + "UPHENO:0002525", + "UPHENO:0002870", + "CHEBI:33285", "UPHENO:0001003", - "HP:0003155", "UPHENO:0080556", + "HP:0003155", "HP:0002900", + "UPHENO:0076703", + "UPHENO:0066939", + "UBERON:0002204", + "UPHENO:0002526", + "UPHENO:0068110", + "UBERON:0003103", + "UBERON:0001231", + "UPHENO:0002320", + "UPHENO:0084653", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000118", + "UBERON:0000178", + "HP:0004349", + "UPHENO:0082834", + "UPHENO:0003022", + "BFO:0000040", + "UBERON:0000174", + "HP:0000924", + "UPHENO:0034199", + "PR:000000001", + "UPHENO:0002976", + "UPHENO:0066954", + "HP:0003330", + "UPHENO:0001001", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0002252", + "UBERON:0011216", + "UBERON:0001062", + "UBERON:0000062", + "HP:0011842", + "UBERON:0001630", + "HP:0033127", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", + "UPHENO:0048707", + "UPHENO:0004791", + "HP:0011849", + "UPHENO:0051763", + "GO:0008150", + "UPHENO:0066960", + "UPHENO:0005285", + "UPHENO:0002530", + "UBERON:0001015", + "UPHENO:0003088", + "BFO:0000015", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "CHEBI:60004", + "UPHENO:0002536", + "UPHENO:0076692", + "GO:0042592", + "CHEBI:33582", + "UBERON:0000465", + "UBERON:0000489", "UBERON:0000467", "UBERON:0004765", - "UPHENO:0081550", - "UPHENO:0001001", + "CHEBI:15693", + "UPHENO:0081544", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "UPHENO:0051635", + "UBERON:0000383", + "HP:0011804", + "HP:0000083", + "GO:0032501", + "UBERON:0004211", + "UPHENO:0001002", "CHEBI:24833", "UBERON:0001008", "CHEBI:33839", "CHEBI:26079", - "GO:0042592", - "UPHENO:0082539", - "UPHENO:0082538", - "UBERON:0000489", - "BFO:0000001", - "PR:000050567", - "CHEBI:59999", - "UPHENO:0080555", - "UBERON:0000178", - "UPHENO:0068094", - "UPHENO:0081546", - "UPHENO:0051640", - "UPHENO:0051280", - "HP:0032943", - "BFO:0000015", - "GO:0008150", - "UPHENO:0051763", - "UBERON:0001062", - "CHEBI:72695", - "UPHENO:0068064", - "HP:0001939", - "CHEBI:35381", + "HP:0002749", + "UPHENO:0002668", + "UPHENO:0082835", "CHEBI:64709", + "UPHENO:0002267", "UBERON:0003914", - "UPHENO:0079536", - "UPHENO:0024906", - "HP:0003011", - "HP:0012337", - "HP:0002749", - "CHEBI:23906", - "UPHENO:0068089", - "HP:0011842", - "UPHENO:0075696", + "HP:0002148", + "HP:0032180", + "CHEBI:33318", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33241", + "BFO:0000001", + "UPHENO:0002554", + "UBERON:0002193", + "UPHENO:0002422", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", "HP:0001871", - "UPHENO:0002536", - "UPHENO:0076692", - "UBERON:0001231", - "UPHENO:0068110", - "UBERON:0003103", - "UBERON:0004111", - "GO:0070293", - "UBERON:0000062", - "UPHENO:0082875", - "UBERON:0001474", - "UBERON:0002100", - "CHEBI:28358", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "UPHENO:0051960", + "UPHENO:0066739", + "UPHENO:0075902", "HP:0001507", "CHEBI:37577", "HP:0001510", "HP:0003109", - "HP:0012591", - "HP:0000079", - "CHEBI:60004", - "CHEBI:33241", - "CHEBI:26082", - "HP:0100529", - "UPHENO:0034217", - "CHEBI:24870", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", + "UPHENO:0051900", + "CHEBI:33238", + "CHEBI:33259", + "HP:0011277", + "UPHENO:0046283", "UBERON:0000064", - "CHEBI:33675", - "UBERON:0002193", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0051937", - "UPHENO:0049904", - "UPHENO:0066739", - "UPHENO:0075902", - "CHEBI:33250", - "UBERON:0002113", - "HP:0032180", - "CHEBI:25367", - "HP:0011042", - "UBERON:0004120", - "CHEBI:17234", - "GO:0048878", - "HP:0040156", - "UBERON:0000463", - "CHEBI:26020", - "UPHENO:0002816", - "UBERON:0011143", - "HP:0011036", + "CHEBI:26082", + "UPHENO:0002287", + "UBERON:0004122", + "HP:0010935", + "UPHENO:0002246", + "UPHENO:0005141", + "UPHENO:0002859", "CHEBI:78616", "HP:0000077", - "UBERON:0013702", - "CHEBI:33304", - "HP:0010930", - "UPHENO:0051847", - "UBERON:0005177", - "UBERON:0005173", + "UPHENO:0002564", + "UBERON:0007684", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002909", "CHEBI:16646", "HP:0000124", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "GO:0003014", - "UBERON:0004819", - "UPHENO:0082543", "UBERON:0000483", - "CHEBI:24431", - "HP:0003111", - "CHEBI:33318", - "UBERON:0004122", - "HP:0010935", - "UBERON:0015212", + "UBERON:0005173", + "UPHENO:0066950", + "UPHENO:0066903", + "UBERON:0005177", + "UPHENO:0002210", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", "HP:0012211", - "UPHENO:0002411", - "UBERON:0000916", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0009773", - "HP:6000531", - "UPHENO:0068352", - "UBERON:0005172", + "UBERON:0015212", + "HP:0004348", + "UPHENO:0002311", + "UPHENO:0002308", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0009569", + "HP:0000002", + "HP:0033354", + "UPHENO:0066921", "HP:0001992", - "UBERON:0010000", "UPHENO:0051709", + "UBERON:0010000", "UBERON:0002390", "UPHENO:0066943", "HP:0004322", + "UPHENO:0002568", "CHEBI:26216", - "UPHENO:0049709", + "UPHENO:0082875", + "CHEBI:28358", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0003430", + "UPHENO:0002360", + "UPHENO:0024906", + "CHEBI:17234", + "UPHENO:0066946", + "CHEBI:24870", + "UPHENO:0003941", + "UPHENO:0002377", + "UPHENO:0002754", + "UBERON:0004819", + "UPHENO:0003094", + "HP:0012591", + "UPHENO:0066925", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0002248", + "UBERON:0000916", + "UPHENO:0002386", "PR:000003968", "UBERON:0000479", "UPHENO:0051686", "CHEBI:36915", + "UPHENO:0066959", + "UPHENO:0066913", "UBERON:0000475", + "UBERON:0013701", + "UBERON:0001285", "HP:0012599", - "UPHENO:0051898", - "PR:000000001", - "UPHENO:0034199", - "UBERON:0006555", - "GO:0055080", - "CHEBI:36914", - "CHEBI:36586", - "CHEBI:33521", - "UPHENO:0081544", - "CHEBI:15693", - "UPHENO:0051645", - "CHEBI:33296", + "UPHENO:0005201", "HP:0010929", - "UPHENO:0034438", - "CHEBI:26217", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0051930", - "CHEBI:33559", "UPHENO:0081547", - "CHEBI:25414", - "UBERON:0000061", - "CHEBI:36916", + "UBERON:0002113", + "CHEBI:33250", + "CHEBI:33559", + "UPHENO:0051645", + "CHEBI:36914", "UPHENO:0079822", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0080659", - "CHEBI:25213", - "UPHENO:0051958", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "CHEBI:29103", - "HP:0003126", - "UPHENO:0002832", - "UPHENO:0002803", - "HP:0002748", - "UPHENO:0051191", - "HP:0034359", - "UBERON:0000465", - "CHEBI:33582", - "CHEBI:33917", - "HP:0011038", - "CHEBI:33674", - "UPHENO:0068058" + "UBERON:0000061", + "CHEBI:36916" ], "has_phenotype_closure_label": [ - "Renal insufficiency", - "non-functional kidney", - "non-functional anatomical entity", - "peptide", + "decreased muscle organ strength", + "muscle structure physiology phenotype", + "muscle structure phenotype", + "Abnormality of the musculature", + "muscle organ physiology phenotype", + "muscle organ", "increased level of protein polypeptide chain in urine", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "Low-molecular-weight proteinuria", - "abnormal independent continuant protein polypeptide chain level", - "carboxamide", + "peptide", "Abnormal urine protein level", - "Abnormality of body height", + "Low-molecular-weight proteinuria", "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the independent continuant", - "delayed growth", - "Growth delay", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", "growth", - "decreased size of the anatomical entity in the independent continuant", - "Growth abnormality", - "carboxylic acid", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "Elevated urinary carboxylic acid", - "increased level of organic acid in independent continuant", - "carbonyl compound", + "growth phenotype", + "decreased height of the anatomical entity", + "Growth delay", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "s-block molecular entity", "molecule", + "amino acid level phenotype", + "Elevated urinary carboxylic acid", "Organic aciduria", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of organic acid in urine", + "Abnormal urine amino acid level", "hydroxides", "organic molecule", - "abnormal urine amino acid level", - "increased level of amino acid in urine", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of protein", - "protein", - "macromolecule", - "nitrogen molecular entity", - "protein-containing molecular entity", - "alkaline phosphatase, tissue-nonspecific isozyme", - "Abnormal circulating enzyme concentration or activity", - "organic amino compound", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", + "increased level of organic acid in urine", + "amino acid", + "carbonyl compound", + "carboxylic acid", + "urine amino acid level phenotype", + "Renal insufficiency", + "aldohexose", + "hexose", "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", - "increased level of monosaccharide in urine", - "organic molecular entity", - "oxygen molecular entity", - "increased level of organic molecular entity in independent continuant", - "Abnormal urine metabolite level", + "aldose", + "glucose", + "organooxygen compound", + "monosaccharide", + "urine glucose level phenotype", + "carbohydrates and carbohydrate derivatives", + "renal absorption", + "renal absorption phenotype", + "Abnormality of renal excretion", + "renal system process", + "cation", + "inorganic ion", + "decreased level of potassium atom in blood", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "role bodily fluid level phenotype", + "Abnormal blood monovalent inorganic cation concentration", + "potassium atom level phenotype", "Hypophosphatemia", "monoatomic ion", - "decreased size of the anatomical entity", - "blood", - "inorganic ion", + "protein", + "macromolecule", + "organic molecular entity", + "kidney phenotype", + "cavitated compound organ physiology phenotype", "pnictogen molecular entity", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "organism substance", - "primary amide", - "elemental molecular entity", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "abnormal renal absorption", - "skeletal system", - "abnormal size of multicellular organism", - "bone element", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "abnormal anatomical entity mass density", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "epithelium", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "abnormal monoatomic cation homeostasis", - "abnormal bone element mass density", - "decreased role independent continuant level", - "skeletal element", - "increased level of rac-lactic acid in independent continuant", - "cavitated compound organ", - "Abnormality of the upper urinary tract", - "musculature of body", - "monoatomic cation", - "organ part", - "Muscle weakness", - "abdominal segment of trunk", - "decreased muscle organ strength", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", - "abnormal potassium atom level", - "abnormal renal system process", - "abnormal musculature", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "abnormality of muscle organ physiology", - "urine", - "anatomical system", - "Abnormal bone structure", - "potassium(1+)", - "abnormal blood chemical entity level", - "phosphate ion homeostasis", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "heteroatomic molecular entity", + "tube phenotype", + "increased level of glucose in urine", + "blood phosphate level phenotype", + "nitrogen molecular entity level phenotype", + "body proper", + "alkaline phosphatase, tissue-nonspecific isozyme level phenotype", + "anatomical system phenotype", + "musculature phenotype", + "organic amino compound", + "material entity", + "Abnormality of alkaline phosphatase level", + "excretory system", + "abdomen element phenotype", + "alkaline phosphatase, tissue-nonspecific isozyme", + "nephron epithelium", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "polyatomic entity", "racemate", - "Aminoaciduria", - "organ system subdivision", - "abnormal genitourinary system", - "abnormal chemical homeostasis", + "renal system physiology phenotype", + "rac-lactic acid", + "amide", + "chemical entity level phenotype", + "trunk region element", + "chemical substance", + "organic oxo compound", + "excreta", + "Abnormality of the urinary system", + "Aciduria", + "renal system phenotype", + "metal atom", + "Abnormality of the urinary system physiology", + "increased level of chemical entity in urine", + "increased urine role level", "decreased anatomical entity strength", "mixture", "epithelial tube", - "chemical substance", + "Abnormality of acid-base homeostasis", + "tube", + "Metabolic acidosis", "chemical entity", - "increased independent continuant acid level", - "abnormal blood monoatomic ion level", - "increased bodily fluid acid level", - "process", - "All", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "increased level of amino acid in independent continuant", - "Abnormality of the musculature", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal role urine level", - "abnormal chemical entity level", - "increased level of rac-lactic acid in urine", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "abnormal urine glucose level", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "multicellular anatomical structure", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Abnormality of the genitourinary system", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", + "Short stature", + "inorganic molecular entity", "Acidosis", - "material entity", - "abnormal independent continuant potassium atom level", + "upper urinary tract phenotype", + "increased level of chemical entity", + "inorganic cation", + "alkali metal atom", + "bone element mass density phenotype", + "Abnormal blood cation concentration", + "Growth abnormality", + "anatomical entity morphology phenotype", + "Abnormal skeletal morphology", + "skeletal system phenotype", + "carbon group molecular entity", + "main group molecular entity", + "Elevated circulating alkaline phosphatase concentration", "protein polypeptide chain", + "system process phenotype", "continuant", - "nephron", "amino acid chain", + "anatomical system physiology phenotype", "tissue", - "monoatomic ion homeostasis", - "abnormal urine chemical entity level", - "biomacromolecule", - "p-block molecular entity", - "inorganic cation", - "increased level of chemical entity", - "renal absorption", - "homeostatic process", - "Abnormal enzyme concentration or activity", - "organochalcogen compound", + "nephron", + "skeletal element", + "cavitated compound organ", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "muscle organ phenotype", + "anatomical structure", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical conduit", "Abnormal muscle physiology", + "organochalcogen compound", "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "oxygen molecular entity", + "urine chemical entity level phenotype", + "Abnormality of the musculoskeletal system", + "musculature of body", + "Abnormal bone structure", + "anatomical system", + "role urine level phenotype", + "muscle structure", + "material anatomical entity", + "entity", + "metabolic process", "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", + "taxon specific phenotype", "Abnormal blood ion concentration", + "multicellular organismal process phenotype", "increased level of alkaline phosphatase, tissue-nonspecific isozyme", "main group element atom", - "carbon group molecular entity", - "metabolic process", - "bodily fluid", - "abnormal urine phosphate level", - "abnormal acid bodily fluid level", - "organic oxo compound", - "excreta", - "monoatomic monocation", - "Abnormality of the urinary system physiology", + "Abnormal renal tubular resorption", + "renal/urinary system phenotype", + "anatomical entity", + "p-block molecular entity", + "biomacromolecule", + "Hypokalemia", + "anatomical structure phenotype", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "renal tubule phenotype", + "nephron tubule phenotype", + "Abnormality of the skeletal system", + "Impaired renal tubular reabsorption of phosphate", + "hematopoietic system", + "multicellular organism", + "abdominal segment element physiology phenotype", + "protein-containing molecular entity", + "tissue phenotype", + "Aminoaciduria", + "organ system subdivision", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "process", + "bone element", + "mesoderm-derived structure phenotype", + "Lacticaciduria", + "multicellular anatomical structure phenotype", + "anatomical entity physiology phenotype", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "skeletal system", + "lateral structure physiology phenotype", + "Abnormality of metabolism/homeostasis", + "decreased size of the anatomical entity", + "blood", + "heteroorganic entity", + "multicellular organismal process", + "Muscle weakness", + "organ part", + "multicellular anatomical structure", + "specifically dependent continuant", "organ", "occurrent", - "abnormal anatomical entity", - "Metabolic acidosis", - "decreased level of potassium atom in blood", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", + "All", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "anatomical entity height phenotype", + "atom", "carbohydrate", - "increased bodily fluid role level", "biological_process", "renal tubule", - "genitourinary system", - "atom", - "muscle structure", - "material anatomical entity", - "abnormal growth", + "nitrogen molecular entity", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", + "epithelial tube physiology phenotype", + "potassium atom", + "musculoskeletal system", + "hydrogen molecular entity", + "nephron tubule", + "anatomical entity phenotype", + "organonitrogen compound", "independent continuant", - "abnormal renal system", + "skeletal element phenotype", + "organ phenotype", + "bodily fluid", + "material anatomical entity phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "excretory tube phenotype", + "upper urinary tract", + "Abnormality of urine homeostasis", + "decreased functionality of the kidney epithelium", "Phenotypic abnormality", "Hyperphosphaturia", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", - "renal system", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "Abnormality of the urinary system", - "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "abnormal role bodily fluid level", - "abnormal biological_process", - "potassium atom", - "trunk", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "polyatomic entity", - "ion", - "phosphorus molecular entity", - "chemical homeostasis", - "heteroatomic molecular entity", - "abnormal acid independent continuant level", - "monoatomic entity", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "multicellular organismal process", - "abnormal blood phosphate level", + "homeostatic process phenotype", + "trunk region element physiology phenotype", + "material anatomical entity physiology phenotype", + "urine phosphate level phenotype", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "information biomacromolecule", + "decreased size of the material anatomical entity", + "abdominal segment element phenotype", + "biological_process phenotype", "organic acid", "ossification", "Abnormal circulating metabolite concentration", + "size of anatomical entity phenotype", + "phenotypic effect", + "organ physiology phenotype", "main body axis", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormality of renal system physiology", + "organism substance", + "Rickets", + "hemolymphoid system", + "Abnormal urine pH", + "bone element phenotype", + "decreased functionality of the epithelial tube", + "haemolymphatic fluid", + "phosphate", + "primary amide", + "elemental molecular entity", + "ion", + "increased level of rac-lactic acid in urine", + "blood chemical entity level phenotype", + "blood potassium atom level phenotype", + "hematopoietic system phenotype", "quality", "phosphoric acid derivative", - "Elevated circulating alkaline phosphatase concentration", - "abnormality of kidney physiology", - "main group molecular entity", - "haemolymphatic fluid", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "abnormal homeostatic process", - "Renal tubular dysfunction", - "trunk region element", - "musculoskeletal system", - "abnormal upper urinary tract", - "uriniferous tubule", - "subdivision of organism along main body axis", - "organism subdivision", - "hematopoietic system", - "multicellular organism", - "Impaired renal tubular reabsorption of phosphate", - "abnormal kidney", - "abdomen", - "excretory tube", + "Abnormal urine carboxylic acid level", + "system process", + "decreased level of chemical entity", + "decreased level of chemical entity in blood", + "genitourinary system phenotype", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "phosphorus molecular entity", + "tissue physiology phenotype", + "trunk", + "Proteinuria", + "protein-containing material entity", + "phosphate level phenotype", + "blood cation level phenotype", + "blood monoatomic ion level phenotype", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "monoatomic entity", + "subdivision of trunk", + "decreased functionality of the nephron tubule", + "chalcogen molecular entity", + "Abnormal renal physiology", + "kidney physiology phenotype", + "organ system subdivision phenotype", + "epithelium phenotype", + "lateral structure", + "decreased functionality of the excretory tube", + "abdomen element", + "epithelium physiology phenotype", + "decreased functionality of the material anatomical entity", + "epithelium", + "decreased functionality of the tube", + "Abnormality of the upper urinary tract", + "tube physiology phenotype", + "cavitated compound organ phenotype", + "Renal tubular dysfunction", + "decreased functionality of the renal tubule", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", + "homeostatic process", + "excretory tube physiology phenotype", + "decreased functionality of the tissue", "Abnormal blood phosphate concentration", "phosphorus oxoacids and derivatives", "kidney epithelium", "compound organ", - "lateral structure", - "Abnormality of urine homeostasis", - "upper urinary tract", - "kidney", - "aldose", - "glucose", + "abdominal segment of trunk", + "abdomen", + "increased level of amino acid in urine", + "compound organ phenotype", + "decreased functionality of the anatomical conduit", + "trunk region element phenotype", + "decreased functionality of the anatomical structure", "Abnormality of the kidney", - "chalcogen molecular entity", - "Abnormal renal physiology", - "nephron epithelium", - "Short stature", - "inorganic molecular entity", - "abnormally decreased functionality of the anatomical entity", - "carbohydrates and carbohydrate derivatives", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "aldohexose", + "excretory tube", + "decreased functionality of the multicellular anatomical structure", + "uriniferous tubule", + "epithelial tube phenotype", + "renal system process phenotype", + "anatomical entity dysfunction in independent continuant", + "nephron epithelium phenotype", + "decreased functionality of the epithelium", + "decreased functionality of the nephron epithelium", + "kidney", "oxoacid derivative", + "compound organ physiology phenotype", "increased level of phosphate in urine", - "Abnormal blood cation concentration", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "Abnormal blood monovalent inorganic cation concentration", - "elemental potassium", - "s-block molecular entity", + "anatomical conduit phenotype", + "blood monovalent inorganic cation level phenotype", "s-block element atom", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "carbon oxoacid", - "Abnormal blood potassium concentration", - "Hypokalemia", - "monoatomic cation homeostasis", - "cation", - "alkali metal atom", - "abnormal blood potassium(1+) level", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", "musculature", "decreased role blood level", - "hemolymphoid system", - "Rickets", - "abnormal independent continuant amino acid level", - "renal system process", - "anatomical entity", - "Abnormal renal tubular resorption", - "abnormal independent continuant chemical entity level", - "Abnormality of renal excretion", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", - "abnormal phosphate level", - "decreased level of chemical entity", - "system process", - "information biomacromolecule", - "Abnormal bone ossification", - "abdominal segment element", - "Glycosuria", - "monosaccharide", - "hexose", - "organooxygen compound", - "heteroorganic entity", - "body proper", - "increased level of glucose in urine" + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "role blood level phenotype", + "monovalent inorganic cation" ], "has_phenotype_count": 16, "highlight": null, @@ -12134,7 +14363,13 @@ "full_name": null, "deprecated": null, "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.", - "xref": ["DOID:0111080", "GARD:16213", "OMIM:617243", "UMLS:C4310652"], + "xref": [ + "DOID:0111080", + "GARD:16213", + "MEDGEN:934619", + "OMIM:617243", + "UMLS:C4310652" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, @@ -12176,2101 +14411,2446 @@ "Short stature" ], "has_phenotype_closure": [ + "UPHENO:0000543", "HP:0000002", "GO:0040007", - "UPHENO:0049874", - "UPHENO:0081424", - "UPHENO:0000543", "HP:0001510", "HP:0001507", - "UPHENO:0012541", - "UPHENO:0088162", - "CL:0000329", - "CL:0000764", + "UPHENO:0081424", + "UPHENO:0069062", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0049874", "HP:0001877", "HP:0012130", + "CL:0000329", + "UPHENO:0088162", "GO:0005623", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", + "UPHENO:0049757", + "UPHENO:0050007", + "UPHENO:0050126", "GO:0010468", "GO:0010558", "GO:0031327", - "GO:0006325", - "UPHENO:0049748", - "GO:0031049", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "GO:0071840", + "UPHENO:0050065", + "UPHENO:0049642", "GO:0050794", "GO:0019222", "GO:0048519", - "GO:0006139", - "GO:1901360", - "GO:0043170", - "GO:0046483", - "UPHENO:0078606", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", "GO:0060255", - "GO:0009889", "GO:0048523", - "GO:0043933", - "UPHENO:0050845", - "CHEBI:33256", - "CHEBI:37622", - "CHEBI:50047", - "GO:0006725", - "UBERON:0001893", - "HP:0000924", - "HP:0010987", - "UPHENO:0081435", + "UPHENO:0050025", + "UPHENO:0050435", + "UPHENO:0049868", + "UPHENO:0050063", + "HP:0003220", + "GO:0031049", + "UPHENO:0078606", + "GO:0031052", + "GO:0009890", + "GO:0031324", + "HP:0003221", + "GO:0010629", + "UPHENO:0050040", + "CL:0000764", + "UPHENO:0050778", + "UPHENO:0081566", + "HP:0006254", + "UPHENO:0076799", + "UBERON:0000481", + "HP:0000152", + "UPHENO:0087907", + "GO:0031323", + "UBERON:0011138", + "UPHENO:0000541", + "HP:0001874", + "UPHENO:0069327", + "UBERON:0010323", + "HP:0012145", "UPHENO:0088170", - "GO:0044238", "UPHENO:0001001", - "UBERON:0034923", - "GO:0010605", - "GO:0009892", - "UPHENO:0080079", - "NCBITaxon:2759", - "HP:0004322", - "UBERON:0003129", - "UBERON:0001434", - "HP:0033127", - "UPHENO:0087123", - "UPHENO:0087089", - "HP:0000234", - "UPHENO:0088338", - "UBERON:0011676", - "UBERON:0000061", + "CHEBI:37622", + "HP:0040195", + "UPHENO:0001003", + "GO:0010556", + "PR:000050567", + "UPHENO:0080010", + "HP:0001911", + "UPHENO:0002764", + "PATO:0000001", "UPHENO:0075159", "HP:0100547", + "UPHENO:0075804", "UPHENO:0086019", "UPHENO:0011498", "UPHENO:0077822", - "UBERON:0011216", - "HP:0009121", - "CHEBI:15841", - "UPHENO:0020584", - "UPHENO:0087518", - "OBI:0100026", - "CL:0000766", - "HP:0002060", - "CL:0000988", - "BFO:0000020", - "HP:0011991", - "GO:0044237", - "HP:0002977", - "GO:0071704", - "CL:0000219", - "HP:0040012", - "UBERON:0004765", - "UBERON:0000467", - "UPHENO:0086005", + "UPHENO:0087123", + "HP:0011842", "UPHENO:0076703", - "UPHENO:0085354", - "PR:000018263", - "UBERON:0002193", - "CL:0001035", + "UPHENO:0063794", + "UPHENO:0049904", + "UPHENO:0077391", + "HP:0032251", + "UBERON:0001474", + "HP:0002011", + "UPHENO:0003004", + "UBERON:0002204", + "UPHENO:0049743", + "UPHENO:0001002", + "UBERON:0001434", + "UPHENO:0077418", + "UPHENO:3000000", + "HP:0009121", + "BFO:0000004", + "CHEBI:36962", + "UPHENO:0002948", + "CHEBI:33256", + "UPHENO:0076805", + "HP:0025461", + "UBERON:0034923", + "UBERON:0004288", "UPHENO:0081423", "UBERON:0015203", - "UPHENO:0022529", - "UBERON:0004120", - "UPHENO:0088166", - "BFO:0000001", - "UBERON:0007811", - "CL:0000255", - "CL:0000738", - "UPHENO:0049700", - "HP:0001911", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0002405", - "UBERON:0000179", - "GO:0006807", - "UPHENO:0006910", - "CL:0002242", - "GO:0010556", - "PR:000050567", - "UPHENO:0085076", - "BFO:0000003", + "CHEBI:36963", + "UPHENO:0002816", + "HP:0000001", "UPHENO:0085356", + "UPHENO:0002530", + "UBERON:0001893", + "UPHENO:0077399", + "UBERON:0001015", + "UPHENO:0077817", + "CL:0002242", "UPHENO:0076675", - "CHEBI:36962", - "UPHENO:0002948", + "UPHENO:0003025", "HP:0001871", - "HP:0011842", - "UPHENO:0075696", "CL:0000000", - "UPHENO:0086045", - "UBERON:0010323", "UPHENO:0086016", - "HP:0032251", - "UPHENO:0000541", - "HP:0001874", - "GO:0031323", - "UBERON:0011138", - "UPHENO:0004459", - "CL:0000233", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0076702", - "UBERON:0000481", - "UPHENO:0076799", - "CL:0000763", - "CL:0000458", - "HP:0000001", - "UPHENO:0051612", - "UPHENO:0085189", - "UPHENO:0076805", - "HP:0025461", - "CHEBI:33304", - "UBERON:0013702", - "HP:0001873", - "CHEBI:36963", - "GO:0090304", - "UPHENO:0015280", - "HP:0045056", - "HP:0025354", - "UPHENO:0082943", - "UPHENO:0085371", - "CL:0000457", - "UBERON:0000073", - "HP:0000929", - "UBERON:0000955", - "UPHENO:0085344", - "HP:0001881", "UBERON:0004121", - "UPHENO:0088335", - "GO:0006996", - "HP:0001939", - "HP:0032309", + "NCBITaxon:2759", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0002405", + "GO:0009892", + "GO:0010605", + "UPHENO:0080079", + "UPHENO:0077348", + "UPHENO:0002525", "GO:0065007", - "UPHENO:0085070", "HP:0010974", + "UPHENO:0002553", "HP:0012443", - "UPHENO:0088318", - "UPHENO:0084928", - "HP:0000118", - "UBERON:0000033", - "UBERON:0000178", + "UBERON:0011216", + "HP:0040012", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0000061", + "UPHENO:0085344", + "HP:0001881", "UPHENO:0063722", "HP:0001872", "HP:0032180", - "UPHENO:0086176", - "UPHENO:0004523", - "UPHENO:0002764", - "UPHENO:0085405", - "HP:0011875", + "HP:0000924", + "HP:0010987", + "UBERON:0000383", + "CL:0000766", + "UBERON:0011137", + "BFO:0000020", "HP:0430071", - "UPHENO:0085042", - "GO:0050789", - "UBERON:0013701", - "UPHENO:0001003", + "UPHENO:0002963", + "HP:0002715", + "UPHENO:0002736", + "CL:0001035", + "UBERON:0002193", + "CL:0002092", + "HP:0020047", + "HP:0011893", + "GO:0009889", + "UPHENO:0002548", + "PR:000064867", + "HP:0033127", + "UBERON:0000062", + "CL:0000219", "UPHENO:0080200", "UBERON:0001890", - "UPHENO:0046362", - "CL:0000094", - "HP:0007364", - "CHEBI:24431", "UBERON:0000468", - "UPHENO:0075195", - "GO:0034641", - "HP:0011893", - "PR:000064867", - "PATO:0000001", - "UBERON:0001062", - "UPHENO:0088321", - "UBERON:0010314", - "UPHENO:0085118", - "HP:0002715", - "UPHENO:0001002", - "UPHENO:0049587", - "UPHENO:0002844", - "NCBITaxon:33154", - "UPHENO:0076791", - "UPHENO:0086589", + "UPHENO:0085371", + "CL:0000457", + "HP:0025354", + "UBERON:0000178", + "UBERON:0000033", + "HP:0001875", + "UPHENO:0002964", + "UPHENO:0004459", + "CL:0000233", + "UPHENO:0080351", + "UPHENO:0076286", + "UBERON:0004120", + "HP:0000118", + "UPHENO:0011536", + "UBERON:0002371", "NCBITaxon:33208", "UPHENO:0076692", "UPHENO:0002536", - "UPHENO:0085984", - "CHEBI:51143", - "HP:0001875", - "UPHENO:0077426", + "UPHENO:0088166", + "BFO:0000001", + "UPHENO:0002554", + "CL:0000081", + "CHEBI:35352", + "UPHENO:0006894", + "UBERON:0010314", + "UBERON:0001062", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0003129", + "CL:0000738", + "UBERON:0000479", + "CL:0000255", + "UPHENO:0051612", + "UPHENO:0085354", + "PR:000018263", + "CHEBI:15841", + "UPHENO:0049775", + "HP:0032309", + "HP:0033405", + "BFO:0000040", + "UPHENO:0063787", "UBERON:0002390", "UBERON:0010000", "HP:0000252", - "UPHENO:0081566", - "HP:0006254", + "CL:0000763", + "CL:0000458", + "NCBITaxon:6072", "GO:0031326", "UBERON:0002090", "CHEBI:23367", - "UPHENO:0002964", - "UPHENO:0086172", - "HP:0000707", - "HP:0000152", - "UPHENO:0087907", + "UPHENO:0003001", + "UPHENO:0002746", + "UPHENO:0086176", + "UPHENO:0004523", "NCBITaxon:131567", - "UBERON:0011137", - "UBERON:0002204", - "UPHENO:0001005", - "HP:0040195", - "NCBITaxon:6072", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0051936", - "GO:0016043", - "HP:0002011", - "HP:0012145", - "BFO:0000002", - "HP:0012639", - "UPHENO:0051804", + "HP:0005561", + "UBERON:0000153", + "HP:0011991", + "UPHENO:0002902", + "UPHENO:0076791", + "UPHENO:0086589", + "UBERON:0011676", + "CHEBI:36357", + "UBERON:0001016", + "GO:0050789", + "UBERON:0013701", + "UPHENO:0050784", + "CL:0000094", + "HP:0007364", + "CHEBI:24431", + "NCBITaxon:33154", + "CL:0000988", + "HP:0002060", + "UPHENO:0087518", + "OBI:0100026", + "CHEBI:33304", + "UBERON:0013702", + "HP:0001873", + "UBERON:0007811", + "HP:0000234", + "UPHENO:0076702", + "UPHENO:0075195", "HP:0000240", "UBERON:0000475", - "HP:0001903", - "UPHENO:0088176", - "UBERON:0005944", - "UBERON:0034925", - "BFO:0000040", - "HP:0033405", + "UPHENO:0051804", + "UPHENO:0046383", + "BFO:0000002", + "HP:0012639", + "UPHENO:0089764", "CL:0000775", "UBERON:0000075", - "UPHENO:0051680", "CL:0000225", "UBERON:0010912", - "UBERON:0000062", - "UPHENO:0086049", - "HP:0011017", - "PR:000000001", + "HP:0000929", + "UBERON:0000955", + "UBERON:0000073", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0002926", + "UPHENO:0069254", + "UPHENO:0075220", "UPHENO:0086173", + "HP:0011875", + "HP:0002977", + "UPHENO:0089759", + "UPHENO:0085302", + "UPHENO:0077373", "CL:0000151", "CL:0000232", + "UPHENO:0011531", "HP:0011873", - "UPHENO:0085302", - "UPHENO:0084987", - "UPHENO:0048707", - "HP:0020047", - "CL:0002092", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0087355", - "UPHENO:0049873", - "UBERON:0000153", - "HP:0005561", - "UPHENO:0085195", - "UPHENO:0087339", - "GO:0006259", - "UBERON:0001474", - "UBERON:0002371", - "UBERON:0004288", - "UPHENO:0085144", "HP:0005528", - "UPHENO:0035025", - "UBERON:0000479", - "CHEBI:33839", - "UBERON:0006314", - "CHEBI:36080", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0085330", + "GO:0008152", + "UBERON:0000463", + "UPHENO:0081581", + "CHEBI:32988", + "CHEBI:33285", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:33694", + "UPHENO:0077826", + "PR:000003809", + "UPHENO:0046378", + "NCBITaxon:1", + "CHEBI:33302", "UBERON:0000465", "CHEBI:33582", "CHEBI:16670", - "NCBITaxon:1", - "UPHENO:0046378", - "CHEBI:33302", - "UPHENO:0076289", - "UPHENO:0077826", - "PR:000003809", + "CHEBI:50047", + "UPHENO:0049620", + "UBERON:0006314", + "CHEBI:36080", "UBERON:0002616", "UPHENO:0048751", - "UBERON:0001016", - "CHEBI:36357", - "UPHENO:0077821", - "UBERON:0000463", - "HP:0010876", - "UPHENO:0085330", - "GO:0008152", + "UPHENO:0051763", + "BFO:0000003", "UPHENO:0046284", - "CHEBI:33694", - "CHEBI:25806", - "CHEBI:50860", - "UPHENO:0051801", - "CL:0000081", - "CHEBI:35352", - "UPHENO:0085068", - "CHEBI:32988", - "GO:0009987", - "CHEBI:33285", + "HP:0045056", + "CHEBI:33579", + "UPHENO:0048707", "BFO:0000015", + "CHEBI:33839", + "HP:0011017", + "UPHENO:0002976", + "PR:000000001", "CHEBI:33675", + "HP:0001903", + "UBERON:0005944", + "UBERON:0034925", + "UPHENO:0088176", + "GO:0042592", "CHEBI:16541", "UPHENO:0068971", "CHEBI:33695", - "UPHENO:0051763", - "UBERON:0001017", - "UPHENO:0081547", - "UPHENO:0020888", - "UPHENO:0077813", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "HP:0001939", "GO:0008150", + "HP:0010876", "HP:0004364" ], "has_phenotype_closure_label": [ - "Abnormality of body height", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "decreased size of the anatomical structure", + "growth", "Short stature", - "delayed biological_process", - "delayed growth", + "decreased height of the anatomical entity", "Growth delay", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "abnormal erythroid lineage cell morphology", - "abnormal erythrocyte morphology", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "delayed biological_process", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "Anemia", "Abnormal erythrocyte morphology", - "programmed DNA elimination", - "obsolete cell", - "abnormal metabolic process", - "Growth abnormality", - "programmed DNA elimination by chromosome breakage", - "negative regulation of biosynthetic process", - "protein-DNA complex organization", + "erythrocyte morphology phenotype", + "erythroid lineage cell morphology phenotype", "regulation of macromolecule metabolic process", "regulation of biosynthetic process", + "negative regulation of cellular process", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "biological regulation", + "regulation of cellular biosynthetic process", + "negative regulation of cellular metabolic process", + "Chromosome breakage", + "negative regulation of biological process phenotype", + "regulation of cellular process phenotype", + "negative regulation of gene expression phenotype", + "regulation of metabolic process phenotype", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "negative regulation of biological process", + "obsolete cell", + "regulation of cellular biosynthetic process phenotype", + "programmed DNA elimination", + "aplasia or hypoplasia of telencephalon", + "multi-tissue structure", + "craniocervical region morphology phenotype", + "Abnormal neutrophil count", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "blood cell", + "anatomical structure", + "musculature of body", + "nitrogen molecular entity", + "decreased size of the multicellular organism", + "telencephalon morphology phenotype", + "immune system morphology phenotype", + "multicellular organism height phenotype", + "cranial skeletal system", + "nucleate cell", + "postcranial axial skeletal system", + "multicellular anatomical structure phenotype", + "decreased number of granulocyte", + "negative regulation of biosynthetic process", + "blood cell phenotype", + "neutrophil", + "cell", + "negative regulation of macromolecule metabolic process phenotype", + "Morphological central nervous system abnormality", + "independent continuant", + "Abnormal granulocyte morphology", + "anatomical collection", + "nervous system phenotype", + "All", + "mesoderm-derived structure phenotype", + "bone element", + "skull phenotype", + "biological regulation phenotype", + "Abnormality of skull size", + "multicellular anatomical structure", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "material entity", + "organic amino compound", + "decreased number of material anatomical entity", + "hemolymphoid system", + "number of myeloid cell phenotype", "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "abnormal cellular metabolic process", - "abnormal organelle organization", - "cellular process", - "regulation of cellular biosynthetic process", - "biological regulation", - "regulation of gene expression", - "chromatin organization", - "abnormal cellular process", - "abnormal chromatin organization", - "Chromosome breakage", - "regulation of cellular metabolic process", - "regulation of metabolic process", + "musculature phenotype", + "Abnormal nervous system morphology", + "anatomical system phenotype", + "Neutropenia", + "musculoskeletal system", + "hematopoietic cell", + "decreased size of the anatomical entity", + "blood", + "growth phenotype", + "Abnormal granulocyte count", + "non-connected functional system", + "neutrophil phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "organism subdivision", + "number of anatomical enitites of type anatomical structure phenotype", + "negative regulation of gene expression", + "Phenotypic abnormality", + "blood organic molecular entity level phenotype", "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "macromolecule metabolic process", - "obsolete cellular aromatic compound metabolic process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "Abnormal skeletal morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", + "craniofacial/craniocervical phenotype", + "decreased number of hematopoietic cell", + "skull morphology phenotype", + "biological_process", + "granulocyte", + "skeletal system phenotype", "Abnormal leukocyte morphology", - "Morphological central nervous system abnormality", - "cell", - "neutrophil", - "abnormal postcranial axial skeleton morphology", + "decreased number of leukocyte", "Abnormality of the skeletal system", - "Abnormal granulocyte count", - "abnormally decreased number of neutrophil", - "abnormal craniocervical region morphology", - "regional part of nervous system", - "forebrain", - "abnormal biological_process", - "abnormal role bodily fluid level", - "multi-tissue structure", - "abnormal skeletal system", - "anterior region of body", - "craniocervical region", - "haemolymphatic fluid", - "body proper", - "aplasia or hypoplasia of telencephalon", - "anatomical entity", - "abnormal phenotype by ontology source", + "decreased number of cell", + "erythrocyte", + "organ system subdivision", "immune system", "myeloid cell", "organonitrogen compound", + "anatomical entity phenotype", "root", - "mesoderm-derived structure", - "macromolecule", - "organism", - "anatomical system", - "abnormal hematopoietic cell morphology", - "Abnormal neutrophil count", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal skull morphology", - "increased level of protein", - "organism subdivision", - "abnormally decreased number of leukocyte in the independent continuant", - "negative regulation of cellular biosynthetic process", - "main group molecular entity", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal hematopoietic system", - "disconnected anatomical group", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal immune system", - "Abnormal leukocyte count", - "decreased size of the anatomical entity in the independent continuant", - "secretory cell", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "abnormally decreased number of granulocyte in the independent continuant", - "non-connected functional system", - "granulocyte", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular anatomical structure", - "Abnormality of neutrophils", - "Abnormality of skull size", - "quality", - "musculoskeletal system", - "Abnormal cell morphology", - "phenotype", - "Abnormal nervous system morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "bone element", - "abnormal cell", - "abnormal programmed DNA elimination by chromosome breakage", - "organochalcogen compound", - "oxygen accumulating cell", - "protein", - "abnormally decreased number of cell", - "oxygen molecular entity", - "nervous system", - "anatomical collection", - "All", + "chemical entity", + "structure with developmental contribution from neural crest phenotype", + "material anatomical entity", + "Abnormal platelet count", "Decreased head circumference", - "abnormal granulocyte morphology", - "abnormal brain morphology", + "Abnormal myeloid leukocyte morphology", + "skull", + "anatomical structure phenotype", + "Abnormality of the head", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "eukaryotic cell", + "hematopoietic system phenotype", + "ectoderm-derived structure phenotype", + "blood chemical entity level phenotype", + "blood oxygen molecular entity level phenotype", "Abnormal cellular immune system morphology", - "tissue", - "amino acid chain", - "abnormal axial skeleton plus cranial skeleton morphology", + "myeloid leukocyte", + "telencephalon phenotype", "organic molecular entity", "hematopoietic system", "multicellular organism", "primary amide", - "abnormal cell morphology", - "abnormal nervous system morphology", - "negative regulation of macromolecule biosynthetic process", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal alpha-fetoprotein level", - "material entity", - "organic amino compound", - "abnormal immune system morphology", - "protein-containing molecular entity", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal circulating organic compound concentration", - "nitrogen molecular entity", - "anatomical structure", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "myeloid leukocyte", - "biological_process", - "phenotype by ontology source", - "anucleate cell", - "abnormally decreased number of cell in the independent continuant", - "Neutropenia", - "structure with developmental contribution from neural crest", - "abnormal neutrophil", - "ectoderm-derived structure", - "abnormally decreased number of hematopoietic cell", - "pnictogen molecular entity", - "main body axis", - "regulation of macromolecule biosynthetic process", - "abnormally decreased number of granulocyte", - "Abnormal circulating metabolite concentration", - "abnormal nervous system", - "abnormal number of anatomical enitites of type neutrophil", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", - "abnormal DNA metabolic process", - "blood cell", - "chemical entity", - "abnormal myeloid cell morphology", - "erythrocyte", - "organ system subdivision", - "abnormal blood cell", - "eukaryotic cell", - "hematopoietic cell", - "abnormal blood alpha-fetoprotein level", - "hemolymphoid system", - "skeletal system", - "motile cell", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "Abnormal granulocyte morphology", "subdivision of organism along main body axis", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "Elevated circulating alpha-fetoprotein concentration", - "skull", - "Abnormality of brain morphology", + "material anatomical entity phenotype", + "blood nitrogen molecular entity level phenotype", + "anatomical entity", + "disconnected anatomical group", + "bone marrow", + "immune system phenotype", + "skeleton", + "postcranial axial skeleton", + "number of hematopoietic cell phenotype", + "subdivision of skeletal system phenotype", + "Abnormal myeloid cell morphology", + "number of anatomical enitites of type neutrophil phenotype", + "Abnormal leukocyte count", + "secretory cell", + "motile cell", + "skeletal system", + "regulation of cellular metabolic process phenotype", + "pnictogen molecular entity", + "Eumetazoa", + "Eukaryota", + "bone marrow cell", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "blood alpha-fetoprotein level phenotype", + "leukocyte morphology phenotype", + "decreased number of anatomical structure", + "regulation of gene expression phenotype", + "bone cell", + "polypeptide", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "size of skull phenotype", + "anatomical entity morphology phenotype", + "skeletal system morphology phenotype", + "cell phenotype", + "mesoderm-derived structure", + "macromolecule", + "granulocyte morphology phenotype", + "organism substance", + "taxon specific phenotype", + "regulation of macromolecule metabolic process phenotype", + "Bone marrow hypocellularity", + "skeletal element", + "regional part of nervous system phenotype", + "phenotype", + "Abnormal cell morphology", + "number of anatomical enitites of type material anatomical entity phenotype", "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", + "Abnormal bone marrow cell morphology", "information biomacromolecule", - "nucleate cell", - "postcranial axial skeletal system", - "material anatomical entity", - "Abnormal platelet count", - "abnormal platelet morphology", - "growth", - "abnormally decreased number of anatomical entity in the independent continuant", - "serotonin secreting cell", - "Opisthokonta", - "telencephalon", - "axial skeletal system", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormality of head or neck", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "abnormal bone marrow morphology", - "skeleton", - "bone marrow", + "number of anatomical enitites of type granulocyte phenotype", + "Abnormal cellular phenotype", + "negative regulation of cellular process phenotype", + "decreased number of anatomical entity", + "decreased number of platelet", + "quality", + "anatomical system", + "Abnormality of thrombocytes", + "number of cell phenotype", "cellular organisms", + "Abnormal brain morphology", "polyatomic entity", + "Abnormality of neutrophils", + "multi-tissue structure phenotype", + "central nervous system", + "tissue", + "amino acid chain", + "craniocervical region", + "haemolymphatic fluid", + "regulation of biosynthetic process phenotype", + "subdivision of organism along main body axis phenotype", + "homeostatic process phenotype", + "brain morphology phenotype", + "aplasia or hypoplasia of anatomical entity", + "protein-containing material entity", + "regional part of brain phenotype", + "forebrain", + "regional part of nervous system", + "organism", + "Microcephaly", + "Aplasia/Hypoplasia involving the central nervous system", + "head morphology phenotype", + "phenotypic effect", + "size of anatomical entity phenotype", + "regulation of biological process", + "nervous system morphology phenotype", + "telencephalon", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "central nervous system morphology phenotype", + "axial skeletal system", + "specifically dependent continuant", + "Abnormal cerebral morphology", "Metazoa", - "Abnormality of the nervous system", "axial skeleton plus cranial skeleton", - "decreased size of the anatomical entity", - "blood", - "postcranial axial skeleton", - "abnormal craniocervical region", - "Eumetazoa", - "Eukaryota", - "subdivision of skeleton", - "abnormal telencephalon morphology", - "central nervous system", + "Abnormality of the nervous system", + "organism subdivision phenotype", + "role blood level phenotype", + "nervous system", + "anterior region of body", + "myeloid leukocyte phenotype", + "main body axis", + "decreased size of the material anatomical entity", + "biological_process phenotype", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "Abnormal circulating metabolite concentration", + "multicellular organism morphology phenotype", + "Aplasia/Hypoplasia of the cerebrum", + "blood protein polypeptide chain level phenotype", + "musculature", + "decreased number of neutrophil", "regional part of brain", - "abnormal anatomical entity morphology in the independent continuant", "brain", - "abnormal size of skull", - "Abnormal forebrain morphology", - "Abnormality of the immune system", - "Thrombocytopenia", - "Abnormality of the head", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "abnormal blood chemical entity level", - "abnormal platelet", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "Bone marrow hypocellularity", - "skeletal element", - "Anemia", - "abnormal bone marrow cell", - "Abnormality of bone marrow cell morphology", - "bone cell", - "polypeptide", - "bone marrow cell", - "abnormal blood protein polypeptide chain level", - "abnormal hematopoietic system morphology", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abnormal role independent continuant level", - "abnormal number of anatomical enitites of type hematopoietic cell", - "process", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "DNA metabolic process", - "carboxamide", - "Abnormal circulating alpha-fetoprotein concentration", + "subdivision of skeleton", + "Abnormality of head or neck", + "Abnormal skull morphology", + "Opisthokonta", + "anucleate cell", + "platelet phenotype", + "programmed DNA elimination by chromosome breakage phenotype", + "bodily fluid", + "Abnormal immune system morphology", + "number of platelet phenotype", + "blood organic amino compound level phenotype", + "biogenic amine secreting cell", + "Chromosomal breakage induced by crosslinking agents", + "forebrain morphology phenotype", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "negative regulation of cellular biosynthetic process", + "main group molecular entity", "Abnormality of metabolism/homeostasis", - "abnormal role blood level", - "increased level of alpha-fetoprotein", - "abnormal head morphology", - "abnormal independent continuant protein polypeptide chain level", - "chalcogen molecular entity", "Abnormal cellular physiology", - "organic substance metabolic process", "increased level of chemical entity", - "organ", - "occurrent", - "Abnormality of multiple cell lineages in the bone marrow", - "carbon group molecular entity", - "abnormal independent continuant chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant alpha-fetoprotein level", - "abnormal independent continuant protein level", "head", + "chemical entity level phenotype", "amide", + "number of leukocyte phenotype", "platelet", "organooxygen compound", - "abnormal multicellular organism chemical entity level", - "abnormal chemical entity level", - "organism substance", - "biogenic amine secreting cell", - "cellular metabolic process", - "continuant", - "protein polypeptide chain", + "peptide", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "body proper", + "nitrogen molecular entity level phenotype", + "Abnormal circulating nitrogen compound concentration", + "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "serotonin secreting cell", + "homeostatic process", + "oxygen accumulating cell", + "protein", + "increased level of alpha-fetoprotein", + "Abnormal circulating alpha-fetoprotein concentration", "p-block molecular entity", "biomacromolecule", "heteroorganic entity", "Abnormal platelet morphology", "alpha-fetoprotein", - "entity", + "chalcogen molecular entity", + "role bodily fluid level phenotype", + "metabolic process", + "continuant", + "protein polypeptide chain", + "alpha-fetoprotein level phenotype", + "organ", + "occurrent", + "regulation of biological process phenotype", "subdivision of skeletal system", + "entity", "Abnormal circulating protein concentration", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal protein level", - "metabolic process", - "bodily fluid", - "abnormal blood nitrogen molecular entity level", + "decreased number of myeloid cell", "Abnormal circulating organic amino compound concentration", - "peptide", - "cellular component organization or biogenesis" + "process", + "craniocervical region phenotype", + "Elevated circulating alpha-fetoprotein concentration" ], "has_phenotype_count": 8, "highlight": null, "score": null }, { - "id": "MONDO:0012565", + "id": "MONDO:0014987", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group N", + "name": "Fanconi anemia complementation group U", "full_name": null, "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", "xref": [ - "DOID:0111094", - "GARD:15500", - "MESH:C563657", - "OMIM:610832", - "UMLS:C1835817" + "DOID:0111085", + "GARD:16215", + "MEDGEN:934618", + "OMIM:617247", + "UMLS:C4310651" ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCN", - "Fanconi Anemia, complementation group type N", - "Fanconi anaemia caused by mutation in PALB2", - "Fanconi anaemia complementation group type N", - "Fanconi anemia caused by mutation in PALB2", - "Fanconi anemia complementation group N", - "Fanconi anemia complementation group type N", - "Fanconi anemia, complementation group N", - "PALB2 Fanconi anaemia", - "PALB2 Fanconi anemia" + "FANCU", + "Fanconi Anemia, complementation group U", + "Fanconi Anemia, complementation group type U", + "Fanconi anaemia caused by mutation in XRCC2", + "Fanconi anaemia complementation group type U", + "Fanconi anemia caused by mutation in XRCC2", + "Fanconi anemia complementation group type U", + "Fanconi anemia, complementation GROUP U", + "XRCC2 Fanconi anaemia", + "XRCC2 Fanconi anemia" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0000470", - "HP:0002984", "HP:0009777", - "HP:0002667", - "HP:0000252", - "HP:0004808", - "HP:0002885", - "HP:0001631", - "HP:0009778", - "HP:0000125", - "HP:0000568", - "HP:0001518", - "HP:0001915", - "HP:0003221", - "HP:0003006", + "HP:0040012", "HP:0000086", - "HP:0000957", - "HP:0002023", - "HP:0000316", - "HP:0008897", - "HP:0000953", - "HP:0001629", - "HP:0000085", - "HP:0000122", - "HP:0000286" + "HP:0000252", + "HP:0002984", + "HP:0003974", + "HP:0001510", + "HP:0001643", + "HP:0012799", + "HP:0010035", + "HP:0011835" ], "has_phenotype_label": [ - "Short neck", - "Hypoplasia of the radius", "Absent thumb", - "Nephroblastoma", - "Microcephaly", - "Acute myeloid leukemia", - "Medulloblastoma", - "Atrial septal defect", - "Short thumb", - "Pelvic kidney", - "Microphthalmia", - "Small for gestational age", - "Aplastic anemia", - "Chromosomal breakage induced by crosslinking agents", - "Neuroblastoma", + "Chromosome breakage", "Ectopic kidney", - "Cafe-au-lait spot", - "Anal atresia", - "Hypertelorism", - "Postnatal growth retardation", - "Hyperpigmentation of the skin", - "Ventricular septal defect", - "Horseshoe kidney", - "Unilateral renal agenesis", - "Epicanthus" + "Microcephaly", + "Hypoplasia of the radius", + "Absent radius", + "Growth delay", + "Patent ductus arteriosus", + "Unilateral facial palsy", + "Aplasia of the 1st metacarpal", + "Absent scaphoid" ], "has_phenotype_closure": [ - "UPHENO:0076761", - "UBERON:0001457", - "UPHENO:0021791", - "UPHENO:0087058", - "UPHENO:0087307", - "UBERON:0013766", - "UBERON:0000014", - "UPHENO:0075878", - "UPHENO:0087928", - "UBERON:0001711", - "HP:0032039", - "UBERON:0034921", - "HP:0000286", - "HP:0030669", - "HP:0000492", - "UPHENO:0025100", - "UPHENO:0026980", - "UPHENO:0008593", - "HP:0000122", - "UPHENO:0041075", - "HP:0000085", - "UPHENO:0041821", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", - "UPHENO:0041629", - "UPHENO:0033604", - "HP:0010438", - "UPHENO:0015282", - "HP:0008897", - "HP:0001510", - "UPHENO:0018424", - "UBERON:0006800", - "UPHENO:0072195", - "UBERON:0000015", - "UPHENO:0072194", - "UPHENO:0055730", - "HP:0100886", - "UBERON:0000466", - "UBERON:0000161", - "HP:0004378", - "UBERON:0001555", - "UBERON:0010222", - "UPHENO:0063599", - "UPHENO:0076803", - "HP:0025031", - "HP:0011121", - "HP:0000104", - "HP:0011355", - "GO:0043473", - "UPHENO:0060026", - "UPHENO:0074589", - "HP:0001000", - "UPHENO:0080662", - "UPHENO:0059829", - "UPHENO:0082682", - "UBERON:0002097", - "UBERON:0002416", - "HP:0001574", - "UPHENO:0054957", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0054970", - "HP:0001034", - "HP:0030061", - "HP:0030063", - "BFO:0000141", - "HP:0003006", - "HP:0030067", - "HP:0004376", - "HP:0030060", - "UPHENO:0000543", - "HP:0030065", - "GO:0005623", - "UBERON:8450002", - "HP:0025033", - "HP:0010786", - "UBERON:0008785", - "GO:0010558", - "UBERON:0011138", - "UBERON:0002513", - "GO:0031323", + "HP:0003019", + "UPHENO:0002619", + "UPHENO:0026314", + "UPHENO:0002723", + "UPHENO:0002696", + "HP:0009810", + "UPHENO:0009291", + "UPHENO:0002673", + "HP:0011835", + "UPHENO:0002973", + "UBERON:0009880", + "UPHENO:0009330", + "HP:0006502", + "UPHENO:0002835", + "HP:0001191", + "UPHENO:0080173", + "UBERON:0004770", + "UBERON:0017750", + "UPHENO:0009335", + "UBERON:0000982", + "UPHENO:0002858", + "UBERON:0001427", + "HP:0004231", + "UPHENO:0002590", + "UPHENO:0009367", + "UPHENO:0009430", + "HP:0004243", + "UBERON:0014395", + "UBERON:0015049", + "UBERON:0003656", + "UPHENO:0081524", + "UBERON:0015078", + "UPHENO:0026144", + "UPHENO:0003015", + "UPHENO:0025103", + "UPHENO:0026127", + "UPHENO:0026076", + "HP:0010048", + "UBERON:0001480", + "UPHENO:0025651", + "UPHENO:0076767", + "UPHENO:0002845", + "UPHENO:0002638", + "HP:0009851", + "UPHENO:0025593", + "UPHENO:0002950", + "HP:0005916", + "UPHENO:0026715", + "UPHENO:0025342", + "UPHENO:0084447", + "UPHENO:0025118", + "UPHENO:0026650", + "UPHENO:0026330", + "UPHENO:0084458", + "UBERON:0015063", + "UBERON:5106048", + "UBERON:0010688", + "UPHENO:0002613", + "UPHENO:0002640", + "UPHENO:0009302", + "UPHENO:0081515", + "UPHENO:0025701", + "UPHENO:0003012", + "UPHENO:0002752", + "UPHENO:0009326", + "UPHENO:0025452", + "UBERON:0015023", + "UBERON:0011250", + "UBERON:0015024", + "UBERON:5101463", + "HP:0009802", + "UPHENO:0009303", + "HP:0009767", + "UPHENO:0076755", + "UPHENO:0002652", + "UBERON:0003821", + "UBERON:0010546", + "UBERON:0012150", + "HP:0005918", + "HP:0009658", + "UPHENO:0025456", + "UPHENO:0080191", + "UPHENO:0025441", + "HP:0010026", + "UBERON:0004302", + "HP:0009834", + "UPHENO:0002898", + "UPHENO:0025556", + "UPHENO:0025527", + "UPHENO:0009383", + "UBERON:0003221", + "UBERON:0012357", + "UBERON:0002374", + "UBERON:0015043", + "UPHENO:0025647", + "UPHENO:0009363", + "UPHENO:0027061", + "UPHENO:0002267", + "UPHENO:0002570", + "UPHENO:0076710", + "HP:0006824", + "UPHENO:0002269", + "UBERON:0000122", + "HP:0011805", + "UPHENO:0002386", + "UBERON:0011779", + "UPHENO:0005116", + "UBERON:0015789", + "UBERON:0014892", + "HP:0012799", + "HP:0031910", + "UPHENO:0002385", + "UPHENO:0002562", + "UPHENO:0002359", + "HP:0011799", + "HP:0045010", + "UBERON:0005090", + "UPHENO:0026045", + "UPHENO:0003587", + "UPHENO:0002759", + "HP:0003011", + "UBERON:0001577", + "UBERON:0010959", + "UPHENO:0080556", + "HP:0010827", + 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"UBERON:0004111", + "UBERON:0011137", + "UPHENO:0087907", + "HP:0006501", + "UBERON:0015410", + "UPHENO:0002736", + "UBERON:0001893", "UPHENO:0026181", "UPHENO:0002964", - "UBERON:0001032", "UBERON:0002616", "HP:0012443", - "HP:0004377", - "UPHENO:0002948", - "HP:0002715", - "CL:0000255", - "CL:0002242", - "UPHENO:0002832", - "HP:0032251", - "HP:0025354", - "HP:0001629", - "UBERON:0034923", - "HP:0001871", - "HP:0009601", - "HP:0002885", - "HP:0040070", - "HP:0100006", - "HP:0004375", - "HP:0001626", - "GO:0010629", - "HP:0001631", - "UBERON:0010314", - "HP:0001873", - "UBERON:0011584", - "UPHENO:0084987", - "UPHENO:0015303", - "UPHENO:0050113", - "UBERON:0002099", - "HP:0011994", - "UPHENO:0049874", - "UPHENO:0015329", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "HP:0000464", - "UBERON:0000915", - "UPHENO:0002833", - "UPHENO:0010763", - "UBERON:0005181", - "UBERON:0005944", - "UPHENO:0003020", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0015228", - "UPHENO:0080362", - "NCBITaxon:6072", + "UPHENO:0002553", + "UPHENO:0033580", "UPHENO:0076776", - "UBERON:0001009", - "HP:0030680", - "GO:0009889", - "UBERON:0007100", - "HP:0011927", - "GO:0006325", - "UPHENO:0046411", - "UBERON:0004381", - "UPHENO:0011498", - "UPHENO:0046624", - "HP:0009381", - "UPHENO:0087427", - "UPHENO:0076779", - "UPHENO:0085344", - "UBERON:0004765", - "UPHENO:0053588", - "UPHENO:0063722", - "HP:0004808", - "UPHENO:0049367", - "UPHENO:0075997", - "UBERON:0002371", - "UBERON:0002471", - "UPHENO:0081755", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "HP:0000086", + "NCBITaxon:6072", + "HP:0000924", + "UBERON:0004121", + "UPHENO:0002641", + "HP:0000252", + "UPHENO:0003001", + "UPHENO:0069047", + "UPHENO:0068838", + "UPHENO:0002746", "HP:0006503", - "UBERON:0002104", - "HP:0008056", - "UBERON:0010230", + "UPHENO:0002764", + "UPHENO:0025652", + "HP:0009115", + "UPHENO:0004523", + "NCBITaxon:33154", + "UPHENO:0009338", + "UPHENO:0026808", "HP:0002060", - "HP:0012372", - "HP:0000315", - "UPHENO:0085189", - "UPHENO:0020041", - "HP:0000271", - "UBERON:0001474", - "CL:0000329", - "HP:0000125", - "UPHENO:0002910", - "HP:0000478", - "UBERON:0001456", - "UPHENO:0069523", - "UBERON:5001463", - "UPHENO:0021474", - "UBERON:0000025", - "UBERON:0004088", - "UPHENO:0075219", - "UPHENO:0077426", - "HP:0000568", - "CL:0000458", - "UPHENO:0054299", - "HP:0100547", - "HP:0001518", - "BFO:0000003", - "HP:0001507", - "UPHENO:0049587", - "BFO:0000015", - "UPHENO:0031839", - "HP:0004325", - "HP:0004323", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "HP:0012145", - "UPHENO:0081466", - "CL:0002092", - "HP:0020047", - "UPHENO:0087355", - "CL:0000457", - "UBERON:0000064", - "CL:0000081", - "CL:0000763", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "CL:0000233", - "UPHENO:0086854", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0085984", - "HP:0034915", - "UPHENO:0087339", - "UPHENO:0087089", - "CL:0000764", - "UBERON:0015410", - "UPHENO:0086173", - "UPHENO:0063565", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0084761", - "HP:0001872", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "HP:0000929", - "GO:0034641", - "UPHENO:0085070", + "UBERON:0007811", + "UPHENO:0002816", + "UPHENO:0002902", + "UBERON:0001017", + "UPHENO:0003026", + "HP:0000234", + "UBERON:0000475", + "UPHENO:0002559", + "UPHENO:0076702", + "UBERON:0002049", + "UPHENO:0011533", + "UBERON:0001016", + "UBERON:0000033", + "UPHENO:0079876", + "UPHENO:0008865", + "UPHENO:0003066", + "UBERON:0005985", + "UPHENO:0025845", + "UPHENO:0075195", + "HP:0009121", + "UPHENO:0080164", + "UPHENO:0075804", + "UPHENO:0081521", + "UPHENO:0086635", + "HP:0000240", + "HP:0001367", + "UPHENO:0002916", + "UPHENO:0075220", + "UPHENO:0068898", + "UPHENO:0046531", + "UBERON:0001423", + "UPHENO:0046554", + "UBERON:0013768", + "UPHENO:0046505", + "UPHENO:0068921", + "HP:0005773", + "UPHENO:0008709", + "UPHENO:0069266", + "UPHENO:0026317", + "UPHENO:0086956", + "UBERON:0034921", + "UPHENO:3000004", + "UPHENO:0025508", + "UPHENO:0046594", + "UPHENO:0069030", + "UPHENO:0069046", + "UPHENO:0008668", + "UPHENO:0068971", + "UPHENO:0082875", + "UBERON:0001981", + "UPHENO:0011492", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0003466", + "UPHENO:0050007", + "UPHENO:0053601", + "HP:0003026", + "UBERON:0003607", + "UPHENO:0046460", + "UPHENO:0087501", + "UPHENO:0002594", + "UPHENO:0046465", + "UBERON:0003606", + "UPHENO:0081313", + "UPHENO:0069064", + "UPHENO:0049757", + "UPHENO:0069125", + "UPHENO:0086797", + "UBERON:0001015", + "UPHENO:0069062", + "UBERON:0010912", + "UPHENO:0046479", + "HP:0040072", + "UPHENO:0075944", + "UPHENO:0046540", + "UBERON:0000955", + "UBERON:0010703", + "HP:0009826", + "UBERON:0002389", + "UPHENO:0087349", + "UBERON:0000468", + "UPHENO:0046538", + "UPHENO:0079872", + "UPHENO:0009341", + "UPHENO:0046445", + "UPHENO:0002637", + "UPHENO:0081091", + "UPHENO:0046392", + "UPHENO:0080160", + "UPHENO:0046397", + "UBERON:0009878", + "UBERON:0005162", + "UPHENO:0088186", + "UPHENO:0025852", + "UPHENO:0076791", + "UPHENO:0046403", + "UPHENO:0076754", + "UPHENO:0069194", + "UBERON:0001647", + "HP:0009824", + "UPHENO:0001002", + "UPHENO:0012308", + "GO:0040007", + "UPHENO:0069163", + "HP:0002813", + "HP:0002818", + "UPHENO:0015281", + "UPHENO:0026098", + "UPHENO:0025497", + "UBERON:0010544", + "HP:0005927", + "UPHENO:0026486", + "UPHENO:0011573", + "UPHENO:0011568", + "UPHENO:0009295", + "UPHENO:0008703", + "HP:0410008", + "UPHENO:0002433", + "UPHENO:0026097", + "UBERON:0004473", + "UPHENO:0068912", + "HP:0003953", + "UPHENO:0009304", + "UPHENO:0009344", + "UPHENO:0026023", + "UPHENO:0011563", + "UPHENO:0026312", + "UPHENO:0069292", + "UPHENO:0009115", + "UPHENO:0026806", + "UPHENO:0025882", + "UPHENO:0008487", + "UPHENO:0025136", + "UPHENO:0026183", + "UPHENO:0026344", "GO:0065007", - "UBERON:0000479", - "UPHENO:0002896", - "GO:0043933", - "HP:0008678", - "GO:0006996", - "UPHENO:0050845", - "HP:0001939", - "HP:0000079", - "GO:0048523", - "GO:0060255", + "UPHENO:0025855", + "UPHENO:0009010", + "UPHENO:0026074", + "UPHENO:0025544", + "UPHENO:0076810", + "UPHENO:0004507", + "UPHENO:0025961", + "UPHENO:0008475", "HP:0003220", - "GO:0043170", - "GO:0006139", - "UBERON:0002094", - "GO:0019222", - "GO:0050794", - "GO:0008152", - "GO:0071824", - "GO:0031324", - "GO:0009890", - "UBERON:0002075", - "GO:0031049", - "HP:0000707", - "UPHENO:0049748", - "UPHENO:0000541", + "UPHENO:0026811", + "UBERON:0001630", + "UPHENO:0008604", + "UPHENO:0053643", + "HP:0009825", + "UPHENO:0008430", + "UPHENO:0025808", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UPHENO:0026095", + "UPHENO:0025545", + "UPHENO:0025955", + "UPHENO:0025883", + "UBERON:0001637", + "UPHENO:0025547", + "UPHENO:0008640", + "UBERON:0001436", "GO:0010468", - "UBERON:0012180", - "HP:0003221", - "UPHENO:0050116", - "UPHENO:0050021", - "UPHENO:0050121", - "UPHENO:0049990" + "UPHENO:0012440", + "UPHENO:0000541", + "UBERON:0010543", + "HP:0001507", + "UPHENO:0000543", + "UBERON:0005177", + "UPHENO:0087334", + "UBERON:0008785", + "UPHENO:0002668", + "HP:0000118", + "UBERON:0003834", + "HP:0010242", + "UBERON:0007100", + "UBERON:0003620", + "UPHENO:0033603", + "UBERON:0013630", + "UBERON:0034923", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0005181" ], "has_phenotype_closure_label": [ - "skin of head", - "eyelid", - "increased length of the epicanthal fold", - "ocular adnexa", - "abnormal zone of skin morphology", - "abnormal skin of face morphology", - "Abnormal eyelid morphology", - "abnormal skin of head morphology", - "upper eyelid", - "Abnormal ocular adnexa morphology", - "epicanthal fold", - "abnormal ocular adnexa", - "Abnormality of the ocular adnexa", - "absent anatomical entity in the renal system", - "Renal agenesis", - "absent kidney", - "Horseshoe kidney", - "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", - "Abnormal ventricular septum morphology", - "interventricular septum", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal interventricular septum morphology", - "delayed biological_process", - "Postnatal growth retardation", - "anatomical line", - "immaterial anatomical entity", - "abnormal location of eyeball of camera-type eye", + "Abnormality of the wrist", + "absent proximal mesopodial bone", + "Carpal bone aplasia", + "carpal bone phenotype", + "proximal mesopodial endochondral element phenotype", + "Aplasia/Hypoplasia involving the carpal bones", + "absent mesopodium bone", + "proximal mesopodial bone phenotype", + "absent proximal carpal endochondral element", + "aplastic carpal bone", + "mesopodium bone phenotype", + "skeletal joint phenotype", + "skeletal joint morphology in the pectoral complex phenotype", + "absent mesopodium bone in the limb", + "carpal region phenotype", + "absent proximal carpal bone", + "Abnormality of the scaphoid", + "carpal region", + "absent radiale", + "absent short bone in the limb", + "mesopodium region phenotype", + "carpus endochondral element", + "skeletal joint", "multi organ part structure", - "increased length of the anatomical line between pupils", - "Hypertelorism", - "increased anatomical entity length in independent continuant", - "Abnormality of globe location", - "tube", - "abnormal closing of the anatomical entity", - "Abnormality of the anus", - "digestive tract", - "anatomical entity atresia", - "abnormal integument", - "abnormal pigmentation in independent continuant", - "changed biological_process rate in independent continuant", - "absent kidney in the renal system", - "Hypermelanotic macule", - "Abnormality of skin morphology", - "abnormal skin of body", - "pigmentation", - "Macule", - "Abnormality of skin pigmentation", - "increased qualitatively biological_process", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "increased pigmentation in independent continuant", - "Localized skin lesion", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "integument", - "integumental system", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased biological_process in skin of body", - "increased biological_process", - "changed biological_process rate", - "limb long bone", + "carpal bone morphology phenotype", + "Absent scaphoid", + "proximal mesopodial bone", + "proximal carpal endochondral element", + "short bone", + "Abnormality of upper limb joint", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "absent autopod endochondral element in the limb", + "absent skeletal element in the metacarpus region", + "absent anatomical structure in the metacarpus region", + "absent carpus endochondral element in the limb", + "absent autopod bone in the metacarpus region", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Aplasia of the proximal phalanges of the hand", + "metapodium bone 1 phenotype", + "manual digit 1 metacarpus endochondral element phenotype", + "metacarpal bone morphology phenotype", + "manual digit bone phenotype", + "Abnormal finger phalanx morphology", + "absent metapodium bone", + "aplasia or hypoplasia of phalanx of manus", + "proximal carpal endochondral element phenotype", + "absent digitopodium bone", + "phalanx of manus phenotype", + "Abnormal metacarpal morphology", + "absent manual digitopodium bone in the metacarpus region", + "aplastic metacarpal bone of digit 1", + "absent endochondral bone in the metacarpus region", + "absent metacarpal bone in the metacarpus region", + "absent bone of appendage girdle complex in the metacarpus region", + "Aplasia of metacarpal bones", + "absent manus bone in the metacarpus region", + "manual digit 1 phalanx endochondral element phenotype", + "metapodium bone phenotype", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "metapodium bone 1", + "proximal phalanx", + "proximal phalanx of manus", + "Partial absence of thumb", + "Aplasia of the 1st metacarpal", + "autopod bone phenotype", + "absent anatomical entity in the metacarpus region", + "absent limb endochondral element in the metacarpus region", + "absent manus bone in the limb", + "manual digit phalanx endochondral element phenotype", + "autopod endochondral element phenotype", + "absent limb long bone in the metacarpus region", + "phalanx phenotype", + "absent manus bone", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "absent bone of pectoral complex in the metacarpus region", + "Abnormality of thumb phalanx", + "phalanx endochondral element", + "manual digit metacarpus endochondral element", + "manual digit phalanx endochondral element", + "absent long bone in the metacarpus region", + "proximal carpal bone", + "digitopodium bone phenotype", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "absent autopod bone in the limb", + "manual digit 1 metacarpus endochondral element", + "manual digit 1 phalanx phenotype", + "absent manual digit metacarpus endochondral element in the metacarpus region", + "metacarpal bone of digit 1", + "skeleton of manual acropodium", + "digitopodium bone", + "metapodium bone", + "skeleton of digitopodium", + "absent mesoderm-derived structure in the metacarpus region", + "absent metapodium bone in the metacarpus region", + "facial nerve", + "cranial neuron projection bundle", + "decreased muscle organ strength", + "Abnormal seventh cranial physiology", + "peripheral nervous system", + "neuron projection bundle", + "muscle structure physiology phenotype", + "lateral structure physiology phenotype", + "nerve phenotype", + "muscle organ phenotype", + "material anatomical entity physiology phenotype", + "multi cell part structure phenotype", + "muscle organ morphology phenotype", + "Cranial nerve paralysis", + "neuron projection bundle phenotype", + "axial musculature", + "face phenotype", + "Unilateral facial palsy", + "skeletal muscle organ, vertebrate phenotype", + "paralysed anatomical entity", + "Aplasia/Hypoplasia involving the metacarpal bones", + "Abnormality of facial soft tissue", + "metapodial skeleton", + "cranial neuron projection bundle phenotype", + "skeletal musculature", + "muscle structure", + "multicellular anatomical structure physiology phenotype", + "paralysed cranial nerve", + "cranial muscle phenotype", + "Abnormality of the musculature", + "Abnormal skeletal muscle morphology", + "cranial or facial muscle phenotype", + "cranial or facial muscle", + "Abnormal peripheral nerve morphology by anatomical site", + "Weakness of facial musculature", + "skeletal joint morphology phenotype", + "facial muscle", + "absent autopod endochondral element", + "craniocervical muscle", + "anatomical structure physiology phenotype", + "Abnormal cranial nerve physiology", + "peripheral nervous system phenotype", + "Abnormal nervous system physiology", + "muscle organ physiology phenotype", + "musculature of face", + "skeletal musculature of head", + "cranial nerve physiology phenotype", + "anatomical system physiology phenotype", + "aplastic manual digit 1 phalanx", + "muscle organ", + "craniocervical muscle phenotype", + "decreased anatomical entity strength", + "subdivision of head phenotype", + "nervous system physiology phenotype", + "manual digit bone", + "Abnormal morphology of the great vessels", + "material anatomical entity morphology in the heart phenotype", + "artery morphology phenotype", + "Abnormal heart morphology", + "Congenital malformation of the great arteries", + "systemic arterial system", + "Abnormal cardiovascular system morphology", + "vascular system", + "heart morphology phenotype", + "Abnormality of the vasculature", + "vessel phenotype", + "incomplete closing of the coronary vessel", + "cranial nerve", + "ductus arteriosus morphology phenotype", + "circulatory organ", + "Abnormality of the cardiovascular system", + "incomplete closing of the vessel", + "incomplete closing of the heart blood vessel", + "blood vessel morphology phenotype", + "incomplete closing of the multicellular anatomical structure", + "incomplete closing of the anatomical structure", + "incomplete closing of the systemic artery", + "anatomical conduit", + "incomplete closing of the ductus arteriosus", + "manual digit 1 phalanx", + "artery phenotype", + "anatomical cluster phenotype", + "trunk blood vessel", + "arterial blood vessel", + "great vessel of heart", + "anatomical cluster", + "carpus endochondral element phenotype", + "incomplete closing of the arterial blood vessel", + "trunk blood vessel phenotype", + "anatomical conduit phenotype", + "mesopodium region", + "aplasia or hypoplasia of metacarpal bone", + "systemic artery", + "phalanx", + "vasculature of organ", + "nerve", + "heart plus pericardium", + "vasculature of trunk", + "heart blood vessel", + "arterial system", + "disconnected anatomical group", + "great vessel of heart morphology phenotype", + "heart vasculature", + "ductus arteriosus", + "incomplete closing of the thoracic segment blood vessel", + "Abnormality of the peripheral nervous system", + "compound organ", "zeugopodial skeleton", - "regional part of nervous system", - "abnormal genitourinary system", - "Neoplasm", - "excretory system", - "abnormal kidney", - "abnormal central nervous system morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "Embryonal renal neoplasm", - "Abnormality of the upper urinary tract", - "Abnormality of the eye", + "absent carpus endochondral element", + "limb long bone", + "absent organ in the multicellular organism", + "blood vessel", + "outflow tract", + "Ectopic kidney", + "Abnormal renal morphology", + "localised abdominal segment element", + "genitourinary system", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "Abnormal localization of kidney", + "programmed DNA elimination by chromosome breakage", + "size of skull phenotype", "trunk region element", "pectoral complex", - "acropodium region", - "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal immune system morphology", - "compound organ", - "eye", - "autopodial skeleton", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 1 morphology", - "Short thumb", - "absent anatomical entity", - "absent anatomical entity in the independent continuant", - "regulation of biosynthetic process", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", - "cellular process", - "Hematological neoplasm", - "Medulloblastoma", - "agenesis of anatomical entity", - "digit", - "abnormal digit morphology", - "skeleton of manus", - "abnormal digit", - "cellular organisms", - "thoracic segment of trunk", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", + "subdivision of skeletal system", + "entity", + "manual digit 1 phalanx endochondral element", + "forelimb zeugopod bone morphology phenotype", + "renal system phenotype", + "absent endochondral bone in the limb", + "short bone phenotype", + "acropodial skeleton", + "Abnormal muscle physiology", + "autopod region morphology phenotype", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "Abnormality of the upper urinary tract", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "localised multicellular anatomical structure", + "gustatory system", + "main body axis", + "negative regulation of biological process phenotype", + "Abnormal cellular phenotype", + "segment of autopod", + "opening of the anatomical entity", + "cell phenotype", + "kidney phenotype", + "skeletal system morphology phenotype", + "cell", + "limb", + "Abnormality of the upper limb", + "skeletal element", + "zeugopod", + "regulation of biosynthetic process phenotype", + "cranial muscle", + "subdivision of organism along main body axis phenotype", + "absent limb bone in the limb", + "aplasia or hypoplasia of proximal phalanx of manus", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "negative regulation of macromolecule metabolic process phenotype", + "homeostatic process", + "cardiovascular system phenotype", + "localised abdomen element", + "Muscle weakness", + "digit phenotype", + "musculature phenotype", + "Abnormal finger morphology", + "aplasia or hypoplasia of radius bone", + "absent bone of pectoral complex in the forelimb", + "phalanx morphology phenotype", + "Eumetazoa", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "articular system", + "negative regulation of biological process", + "absent material anatomical entity in the limb", + "phalanx endochondral element phenotype", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "absent carpal bone in the limb", + "metacarpal bone", + "occurrent", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "endochondral bone phenotype", + "skeletal system phenotype", + "digit plus metapodial segment", + "appendage", + "anatomical entity phenotype", + "root", + "decreased length of organ", + "musculoskeletal system", + "localised anatomical structure", + "proximal mesopodial endochondral element", "Absent thumb", - "abnormal autopod region morphology", + "cavitated compound organ phenotype", + "mesopodium bone", + "bone of free limb or fin", "aplastic anatomical entity", - "abnormal anatomical entity morphology in the manus", + "incomplete closing of the trunk blood vessel", + "anterior region of body", "cardiovascular system", - "interatrial septum", - "abnormal manus", - "Nephroblastoma", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal appendicular skeleton morphology", - "manual digit", - "Abnormal eye morphology", - "Abnormal morphology of the radius", - "zone of skin", - "forelimb skeleton", - "genitourinary system", - "forelimb zeugopod", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal digestive system", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "paired limb/fin skeleton", - "arm", - "bone of appendage girdle complex", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "manual digit plus metapodial segment", - "macromolecule metabolic process", + "absent skeletal element", + "All", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "absent carpal bone", + "nervous system phenotype", + "Aplasia involving bones of the extremities", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "manual digit morphology in the manus phenotype", + "localised cavitated compound organ", + "systemic artery phenotype", + "forelimb zeugopod morphology phenotype", + "metacarpal bone of digit 1 phenotype", + "Upper limb undergrowth", + "skeleton of pectoral complex", + "paired limb/fin segment", + "absent multicellular anatomical structure", + "Opisthokonta", + "Eukaryota", + "negative regulation of cellular metabolic process", + "abdomen element", + "incomplete closing of the artery", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "proximal carpal bone phenotype", + "manual digit metacarpus endochondral element phenotype", + "arterial blood vessel phenotype", + "absent material anatomical entity in the multicellular organism", + "forelimb endochondral element", + "Phenotypic abnormality", + "carpal bone", + "negative regulation of gene expression", + "regulation of metabolic process phenotype", + "multicellular anatomical structure phenotype", + "bone element phenotype", + "Abnormal carpal morphology", + "mesopodial skeleton", + "multi-limb segment region phenotype", + "mesoderm-derived structure morphology in the heart phenotype", + "number of anatomical enitites of type endochondral bone phenotype", + "absent autopod bone", + "regulation of macromolecule metabolic process", + "upper limb segment phenotype", + "endochondral element phenotype", + "absent organ in the metacarpus region", + "organism subdivision phenotype", + "appendage phenotype", + "skeleton of limb", + "Aplasia involving forearm bones", + "negative regulation of cellular process phenotype", + "absent manual digit metacarpus endochondral element", + "anatomical entity morphology in the skeleton of manus phenotype", + "material anatomical entity", + "structure with developmental contribution from neural crest phenotype", + "incomplete closing of the anatomical entity", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "manual digitopodium bone phenotype", + "absent anatomical structure in the forelimb", + "aplasia or hypoplasia of manual digit 1", + "bone of pectoral complex phenotype", + "viscus", + "decreased size of the skeletal element", "appendicular skeleton", - "Unilateral renal agenesis", "upper limb segment", - "head or neck skin", - "abnormal forelimb zeugopod bone", - "lateral structure", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "aplasia or hypoplasia of skeleton", - "cardiac ventricle", - "abnormal craniocervical region", - "increased size of the anatomical entity", - "limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "cell", - "mesoderm-derived structure", - "Anal atresia", + "multi cell part structure", + "limb phenotype", + "paired limb/fin skeleton", + "carpal skeleton", + "arm phenotype", + "thoracic cavity element", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "limb bone", + "absent bone element in the limb", + "absent forelimb endochondral element in the metacarpus region", + "segment of manus", + "protein-containing material entity", + "manual digit plus metapodial segment", "limb endochondral element", - "Short forearm", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "bone element hypoplasia in independent continuant", - "leukocyte", - "appendicular skeletal system", - "multi-limb segment region", - "Abnormality of head or neck", - "organism", - "irregular bone", - "postcranial axial skeleton", - "digit plus metapodial segment", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "anatomical collection", - "All", - "decreased size of the anatomical entity in the independent continuant", - "bone element", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", + "absent limb bone", + "agenesis of anatomical entity", + "absent bone element in the metacarpus region", + "absent bone of free limb or fin in the limb", + "skeleton of manus", + "skeleton phenotype", + "absent forelimb endochondral element", + "manus bone", + "radius bone", + "Abnormality of the hand", + "nerve of head region", + "phenotype", + "Abnormal limb bone morphology", + "absent digit", + "arm", + "absent limb long bone in the forelimb", + "autopodial extension phenotype", + "manual digit", + "articulation phenotype", + "manual digitopodium bone", + "localised lateral structure", + "absent multicellular anatomical structure in the skeletal system", + "continuant", + "absent material anatomical entity in the forelimb", + "regulation of cellular process phenotype", + "forelimb zeugopod", + "absent organism subdivision in the multicellular organism", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "manus morphology phenotype", + "material anatomical entity phenotype", + "incomplete closing of the mesoderm-derived structure", + "forelimb long bone phenotype", + "skeletal system", "paired limb/fin", + "metacarpus region", "Hypoplasia of the radius", - "abnormal anatomical entity", - "cervical vertebra endochondral element", - "decreased length of neck", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "aplastic manual digit 1", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", + "absent material anatomical entity in the metacarpus region", + "programmed DNA elimination by chromosome breakage phenotype", + "aplasia or hypoplasia of carpal bone", + "manus phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "cranial nerve phenotype", + "regulation of metabolic process", + "autopodial extension", + "manual digit 1", + "mesoderm-derived structure phenotype", + "decreased length of bone of appendage girdle complex", + "bone element", + "regulation of biological process", + "facial nerve phenotype", + "digit 1 phenotype", + "vessel", + "lateral structure", + "autopod bone", + "mesoderm-derived structure", + "thoracic segment organ", + "absent forelimb long bone", + "organ system subdivision", + "metacarpus skeleton", + "nerve of head region phenotype", + "musculature", + "regional part of brain", + "number of anatomical enitites of type organism subdivision phenotype", + "blood vasculature", + "limb endochondral element phenotype", + "skeletal muscle organ, vertebrate", + "anatomical structure", + "paired limb/fin phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "Abnormal hand morphology", + "Metazoa", + "taxon specific phenotype", + "absent manual digit", + "Abnormal thumb morphology", + "subdivision of trunk", + "limb segment", + "forelimb morphology phenotype", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", "independent continuant", - "abnormal leukocyte morphology", - "abnormal growth", - "Neoplasm by histology", - "endochondral element", - "abnormal neck", - "Abnormality of the neck", - "orifice", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "musculoskeletal system", - "abnormal cellular metabolic process", - "limb skeleton subdivision", - "skull", - "organ", - "abnormal cardiac septum morphology", - "occurrent", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", + "aplastic manual digit 1", + "absent bone of free limb or fin", + "articulation", + "Abnormality of facial musculature", + "anatomical entity morphology in the manus phenotype", "anatomical system", - "abnormal neck morphology", - "skeleton of limb", - "Abnormal forearm bone morphology", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "arm bone", - "increased pigmentation", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "entity", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "decreased length of anatomical entity", - "bone of pectoral complex", - "abnormal limb bone morphology", - "abnormal anatomical entity topology in independent continuant", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "thoracic segment organ", - "Abnormal cellular immune system morphology", - "skeletal element", - "zeugopod", - "U-shaped kidney", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "regulation of cellular biosynthetic process phenotype", + "limb bone morphology phenotype", + "decreased size of the forelimb endochondral element", + "Abnormal skeletal morphology", + "aplastic phalanx of manus", + "decreased size of the anatomical entity in the pectoral complex", "digit 1 or 5", - "dorsal part of neck", - "abnormal interatrial septum morphology", - "primary circulatory organ", - "Abnormal myeloid cell morphology", - "dorsum", - "cervical region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormal eyelid morphology", + "incomplete closing of the material anatomical entity", + "subdivision of skeletal system phenotype", + "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "bone of appendage girdle complex phenotype", + "negative regulation of metabolic process", + "nervous system morphology phenotype", + "manual digit 1 or 5", + "paired limb/fin segment phenotype", + "vascular system morphology phenotype", + "Abnormal digit morphology", + "negative regulation of cellular process", + "Aplasia/hypoplasia involving the skeleton", + "absent long bone", + "anatomical entity", + "phenotypic effect", + "size of anatomical entity phenotype", + "pectoral appendage skeleton", + "absent proximal mesopodial endochondral element", + "Aplasia/Hypoplasia involving the central nervous system", + "forelimb endochondral element phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "biological regulation", + "abdominal segment of trunk", "manus", - "subdivision of organism along main body axis", - "Neoplasm of the genitourinary tract", - "abnormal vertebral column", - "Abnormality of the vertebral column", - "bone of dorsum", - "bone marrow", - "Abnormal cardiac atrium morphology", - "abnormally decreased number of myeloid cell", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "vertebral column", - "telencephalon", - "abnormal opening of the anatomical entity", - "dorsal region element", - "Abnormality of skull size", + "Abnormality of limbs", + "muscle structure phenotype", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "arm bone", + "Abnormal joint morphology", "body proper", - "organ system subdivision", - "erythrocyte", - "abnormal blood cell", - "absent digit", - "nucleobase-containing compound metabolic process", - "phenotype", - "Abnormal cell morphology", - "main body axis", - "abnormal kidney morphology", - "quality", - "abnormal forelimb zeugopod morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "appendage", - "root", - "Malignant neoplasm of the central nervous system", - "abnormally decreased number of hematopoietic cell", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Microphthalmia", - "material anatomical entity", - "renal system", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", - "abnormal renal system", - "Peripheral primitive neuroectodermal neoplasm", - "abnormal anus", - "Neuroectodermal neoplasm", - "skeletal system", - "abnormal cardiac ventricle morphology", - "motile cell", - "manual digit 1 plus metapodial segment", - "abdomen", - "aplasia or hypoplasia of manual digit 1", + "absent limb endochondral element in the limb", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "multicellular organism morphology phenotype", + "absent forelimb bone in the metacarpus region", + "absent multicellular anatomical structure in the limb", + "regulation of cellular process", + "localised trunk region element", + "coronary vessel", + "digit morphology phenotype", + "aplasia or hypoplasia of skeleton", + "craniocervical region morphology phenotype", + "Abnormality of the skeletal system", + "number of anatomical enitites of type skeletal element phenotype", "system", - "circulatory system", - "bone marrow cell", - "continuant", - "neck bone", - "entire sense organ system", - "abnormal craniocervical region morphology", - "cervical vertebra", - "abnormal telencephalon morphology", - "Embryonal neoplasm", - "skeleton", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "craniocervical region", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "Abnormal thumb morphology", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "subdivision of vertebral column", - "absent manual digit", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "Abnormal finger morphology", - "abnormal digestive system morphology", - "abnormal forelimb morphology", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "Abnormal hand morphology", - "Metazoa", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "zone of organ", - "tissue", + "regulation of gene expression phenotype", + "brain morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "absent forelimb long bone in the metacarpus region", + "limb bone phenotype", "digitopodium region", "Aplasia/Hypoplasia of fingers", - "endochondral bone", - "Aplasia/Hypoplasia of the radius", - "neck", - "abnormal size of anatomical entity", - "Upper limb undergrowth", - "Abnormality of thrombocytes", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormality of the hand", - "radius bone", - "abnormal DNA metabolic process", - "forelimb zeugopod bone hypoplasia", - "skin of eyelid", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "subdivision of organism along appendicular axis", + "localised material anatomical entity", + "absent limb bone in the metacarpus region", + "absent organism subdivision", + "absent endochondral element in the metacarpus region", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "decreased length of bone of pectoral complex", + "skeleton", + "anatomical collection phenotype", + "quality", + "absent anatomical structure in the limb", + "blood vessel phenotype", + "decreased length of mesoderm-derived structure", + "negative regulation of macromolecule metabolic process", "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Abnormal neck morphology", - "negative regulation of gene expression", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "appendage girdle complex", - "subdivision of head", - "abnormal face", - "forelimb bone", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the pectoral complex", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "head", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "obsolete cellular aromatic compound metabolic process", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal limb bone", - "Abnormal nervous system morphology", - "sense organ", - "limb bone", - "Neuroblastoma", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "limb segment", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Nervous tissue neoplasm", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "Abnormality of limb bone morphology", - "manual digit 1", - "Decreased body weight", - "autopodial extension", - "regulation of metabolic process", - "regulation of cellular metabolic process", - "Abnormality of limbs", + "absent autopodial extension", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "regulation of biosynthetic process", + "bone of appendage girdle complex", + "digit 1 plus metapodial segment", + "Aplasia/hypoplasia involving bones of the extremities", + "absent mesoderm-derived structure", + "absent metacarpal bone", + "absent anatomical entity", + "process", + "Abnormality of metabolism/homeostasis", + "limb morphology phenotype", + "biological regulation phenotype", + "number of anatomical enitites of type anatomical structure phenotype", + "Abnormality of skull size", + "anatomical entity morphology in the pectoral complex phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "embryonic cardiovascular system", + "organism subdivision", + "craniocervical region musculature", + "regional part of brain phenotype", + "digit 1 or 5 phenotype", + "obsolete cell", + "anatomical entity morphology phenotype", + "decreased length of long bone", + "programmed DNA elimination", + "multi-limb segment region", + "Facial palsy", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "metacarpal bone of digit 1 morphology phenotype", + "anatomical system phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "radius bone morphology phenotype", + "absent radius endochondral element in the forelimb", + "renal system morphology phenotype", + "metacarpal bone phenotype", + "Chromosome breakage", + "trunk region element phenotype", + "Aplasia/Hypoplasia of the 1st metacarpal", + "lateral structure phenotype", + "negative regulation of gene expression phenotype", + "localised compound organ", "Abnormality of the kidney", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "blood cell", + "trunk", "Abnormality of the genitourinary system", "forebrain", - "Abnormality of the cardiovascular system", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "Renal neoplasm", - "Urinary tract neoplasm", - "abnormal anatomical entity morphology in the heart", - "Abnormal renal morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "abnormal nervous system", - "abnormal forebrain morphology", - "Neuroblastic tumor", - "multi-tissue structure", - "Aplastic anemia", - "abnormal nervous system morphology", - "Leukemia", - "abnormal cell morphology", - "abnormal anus morphology", - "Abnormality of the urinary system", + "excretory system", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "circulatory system", + "subdivision of organism along main body axis", + "renal system", "Morphological central nervous system abnormality", - "anus", - "Abnormal skull morphology", - "abnormal anatomical entity morphology in the brain", - "Primitive neuroectodermal tumor", - "visual system", + "Abnormality of the urinary system", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "upper urinary tract phenotype", + "biological_process", + "genitourinary system phenotype", + "absent multicellular anatomical structure in the metacarpus region", + "manual digitopodium region", + "upper urinary tract", + "absent bone of free limb or fin in the metacarpus region", + "regional part of nervous system", + "telencephalon morphology phenotype", + "skull phenotype", + "multi organ part structure phenotype", + "heart", + "coronary vessel morphology phenotype", + "Abnormality of the head", + "postcranial axial skeleton", + "absent radius endochondral element", + "regulation of macromolecule biosynthetic process phenotype", "Decreased head circumference", + "Abnormality of the nervous system", + "central nervous system morphology phenotype", + "Growth abnormality", + "cardiovascular system morphology phenotype", + "axial skeletal system", + "forebrain morphology phenotype", + "aplasia or hypoplasia of telencephalon", + "telencephalon phenotype", + "cellular organisms", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "manus bone phenotype", + "Abnormal morphology of the radius", + "craniocervical region", + "forelimb skeleton", + "head morphology phenotype", + "regional part of nervous system phenotype", + "ectoderm-derived structure phenotype", + "Abnormal axial skeleton morphology", + "telencephalon", + "structure with developmental contribution from neural crest", + "decreased length of limb bone", + "ectoderm-derived structure", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", "cranial skeletal system", - "abnormal head morphology", - "Pancytopenia", - "abnormal head", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", + "acropodium region", + "decreased size of the limb endochondral element", + "craniocervical region phenotype", + "brain", + "Abnormality of head or neck", + "Abnormal skull morphology", + "organ phenotype", + "absent bone of appendage girdle complex", + "skull morphology phenotype", + "Abnormal 1st metacarpal morphology", + "Abnormal brain morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "multicellular anatomical structure morphology in the heart phenotype", + "autopod endochondral element", "Abnormality of limb bone", + "homeostatic process phenotype", "central nervous system", - "skin of face", - "regional part of brain", + "absent organ in the forelimb", + "decreased length of bone element", + "limb long bone morphology phenotype", + "localised anatomical entity", + "decreased size of the multicellular anatomical structure", + "incomplete closing of the anatomical conduit", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Forearm undergrowth", + "decreased size of the anatomical entity", "forelimb long bone", - "abnormal size of skull", - "forelimb", - "Abnormal forebrain morphology", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "aplasia or hypoplasia of eyeball of camera-type eye", - "sensory system", - "anus atresia", - "Short long bone", - "abnormal skull morphology", - "abnormal immune system", - "Acute leukemia", - "camera-type eye", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "hemolymphoid system", - "nucleate cell", - "Neuroepithelial neoplasm", - "non-connected functional system", - "Abnormal immune system morphology", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Acute myeloid leukemia", - "Short digit", - "Abnormality of the immune system", - "immune system", - "disconnected anatomical group", - "abnormal cell", - "abnormal hematopoietic system", - "Neoplasm of the central nervous system", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "Ectopic kidney", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal cardiovascular system morphology", - "heart plus pericardium", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "organ part", - "abnormal incomplete closing of the anatomical entity", - "biological_process", - "cardiac atrium", - "vertebral element", - "viscus", - "circulatory organ", "Abnormal forearm morphology", - "vertebra", - "Small for gestational age", - "Abnormal heart morphology", - "abnormal cardiovascular system", - "paired limb/fin segment", - "septum", - "subdivision of skeleton", - "Abnormal cardiac septum morphology", - "aplasia or hypoplasia of radius bone", - "abnormal long bone morphology", - "abnormal heart morphology", - "abnormal incomplete closing of the interatrial septum", - "obsolete nitrogen compound metabolic process", - "abnormal cardiac atrium morphology", - "Short finger", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "cervical region of vertebral column", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "abnormally localised anatomical entity", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Abnormal anus morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "Abnormal localization of kidney", - "aplasia or hypoplasia of manual digit", - "cardiac chamber", - "face", - "abnormal orbital region", - "axial skeletal system", - "Growth abnormality", - "Pelvic kidney", - "abnormal pigmentation", - "heart", - "Abnormality of the head", - "organic substance metabolic process", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "abnormal renal system morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormality of the face", - "Abnormality of the orbital region", - "abnormal size of eyeball of camera-type eye", - "multicellular organism", - "Thrombocytopenia", - "regulation of macromolecule biosynthetic process", - "orbital region", - "abdominal segment of trunk", - "biological regulation", - "regulation of cellular biosynthetic process", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "decreased length of forelimb zeugopod bone", - "eyeball of camera-type eye", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "abnormality of anatomical entity mass", - "Short neck", - "Aplasia/Hypoplasia involving the central nervous system", - "decreased multicellular organism mass", - "Abnormal atrial septum morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormality of multicellular organism mass", - "Growth delay", + "Limb undergrowth", + "radius endochondral element", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "decreased length of skeletal element", + "decreased size of the material anatomical entity", + "decreased size of the long bone", + "forelimb zeugopod bone hypoplasia", + "decreased size of the bone of pectoral complex", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "aplasia or hypoplasia of manual digit 1 phalanx", + "decreased size of the bone of free limb or fin", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased length of anatomical structure", + "renal/urinary system phenotype", + "forelimb bone", + "anatomical entity hypoplasia", + "absent radius bone", + "axial skeleton plus cranial skeleton", + "decreased size of the limb bone", + "absent short bone", + "multi-tissue structure", + "limb long bone phenotype", + "nervous system", + "forelimb zeugopod bone", + "decreased length of multicellular anatomical structure", "kidney", - "abnormal biological_process", - "Decreased multicellular organism mass", - "abnormally decreased number of cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "myeloid cell", - "platelet", - "Abnormality of bone marrow cell morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "cardiac septum", - "anucleate cell", - "oxygen accumulating cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal myeloid cell morphology", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "cavitated compound organ", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "abnormal primary metabolic process", - "cellular component organization", - "obsolete cellular nitrogen compound metabolic process", - "postcranial axial skeletal system", - "organelle organization", - "negative regulation of biological process", - "regulation of cellular process", - "Chromosome breakage", - "abnormal chromatin organization", - "secretory cell", - "abnormal cellular process", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", + "Growth delay", + "radius bone phenotype", + "decreased length of forelimb zeugopod bone", + "forelimb bone phenotype", + "decreased length of limb endochondral element", + "Short forearm", + "delayed biological_process", + "decreased length of material anatomical entity", + "absent limb long bone", + "decreased size of the forelimb bone", + "Abnormal peripheral nervous system morphology", + "Abnormal upper limb bone morphology", + "Abnormal blood vessel morphology", + "decreased size of the arm bone", + "decreased size of the bone of appendage girdle complex", + "number of anatomical enitites of type bone element phenotype", + "Abnormal forearm bone morphology", + "absent autopod endochondral element in the metacarpus region", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "vasculature", + "bone of pectoral complex morphology phenotype", + "organ", + "decreased size of the anatomical structure", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the endochondral element", + "absent forelimb zeugopod bone", + "decreased length of forelimb endochondral element", + "metapodium region", + "Aplasia/hypoplasia involving forearm bones", + "long bone phenotype", + "forelimb zeugopod bone phenotype", + "absent arm bone in the forelimb", + "decreased length of endochondral bone", + "absent forelimb bone in the forelimb", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", + "peripheral nervous system morphology phenotype", + "Aplasia involving bones of the upper limbs", + "absent bone of appendage girdle complex in the limb", + "Abnormal cerebral morphology", + "limb segment phenotype", + "absent endochondral element in the limb", + "absent bone of pectoral complex in the limb", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "skull", + "absent material anatomical entity in the skeletal system", + "absent forelimb zeugopod bone in the forelimb", + "absent limb endochondral element in the forelimb", + "number of anatomical enitites of type organ phenotype", + "radiale", + "anatomical entity physiology phenotype", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "number of anatomical enitites of type endochondral element phenotype", + "Abnormal proximal phalanx morphology of the hand", + "absent limb bone in the forelimb", + "absent skeletal element in the limb", + "absent anatomical structure in the skeletal system", + "Patent ductus arteriosus", + "absent bone element", + "decreased size of the organ", + "decreased size of the endochondral bone", + "absent forelimb bone", + "absent manual digitopodium bone", + "absent organ", + "Absent radius", + "radiale phenotype", + "Absent forearm bone", + "Aplasia of the phalanges of the hand", + "subdivision of head", + "appendage girdle complex", + "absent mesoderm-derived structure in the forelimb", + "Abnormal appendicular skeleton morphology", + "absent bone element in the forelimb", + "absent endochondral element in the forelimb", + "absent forelimb bone in the limb", + "absent limb endochondral element", + "facial muscle phenotype", + "systemic artery morphology phenotype", + "absent organ in the limb", + "absent endochondral element", + "absent endochondral bone in the forelimb", + "skeleton of manual digitopodium", + "localised organ", + "primary circulatory organ", + "absent endochondral bone", + "autopod region phenotype", + "absent mesoderm-derived structure in the limb", + "absent radius bone in the forelimb", + "absent forelimb endochondral element in the limb", + "Short long bone", + "absent arm bone", + "manual digit 1 digitopodial skeleton", "regulation of gene expression", - "metabolic process", - "abnormal organelle organization", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal cellular component organization", - "protein-containing complex organization", - "nucleic acid metabolic process", - "abnormal limb", - "negative regulation of cellular process", - "shape kidney", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abnormal incomplete closing of the interventricular septum", - "regulation of macromolecule metabolic process", - "protein-DNA complex organization", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "material entity", - "long bone", - "negative regulation of biosynthetic process", - "abnormal metabolic process", - "digestive system", - "obsolete cell", - "decreased length of long bone", - "programmed DNA elimination" + "pectoral appendage", + "absent bone of appendage girdle complex in the forelimb", + "absent skeletal element in the forelimb", + "arm bone phenotype", + "delayed growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "growth phenotype", + "vasculature phenotype", + "decreased length of forelimb bone", + "anatomical structure morphology in the heart phenotype", + "anatomical entity morphology in the heart phenotype", + "Abnormal vascular morphology", + "absent digitopodium bone in the metacarpus region", + "forelimb", + "Abnormal forebrain morphology", + "incomplete closing of the blood vessel", + "absent bone of free limb or fin in the forelimb", + "artery", + "localised kidney", + "absent anatomical structure", + "conceptus", + "thoracic segment blood vessel" ], - "has_phenotype_count": 25, + "has_phenotype_count": 11, "highlight": null, "score": null } ], - "facet_fields": [], - "facet_queries": [] + "facet_fields": null, + "facet_queries": null } diff --git a/frontend/fixtures/entity.json b/frontend/fixtures/entity.json index 3add5ba19..cee4c2800 100644 --- a/frontend/fixtures/entity.json +++ b/frontend/fixtures/entity.json @@ -10,6 +10,7 @@ "GARD:7922", "ICD10CM:G71.0", "ICD9:359.1", + "MEDGEN:44527", "MESH:D009136", "MedDRA:10028356", "NANDO:1200486", @@ -24,13 +25,13 @@ "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": "http://purl.obolibrary.org/obo/MONDO_0020121", "iri": null, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": 0 } diff --git a/frontend/fixtures/histopheno.json b/frontend/fixtures/histopheno.json index 43176f461..30ed418f9 100644 --- a/frontend/fixtures/histopheno.json +++ b/frontend/fixtures/histopheno.json @@ -3,47 +3,42 @@ "items": [ { "label": "musculature", - "count": 1748, + "count": 2068, "id": "UPHENO:0002816" }, { "label": "nervous_system", - "count": 1097, + "count": 1126, "id": "UPHENO:0004523" }, { "label": "head_neck", - "count": 592, + "count": 597, "id": "UPHENO:0002764" }, { "label": "skeletal_system", - "count": 500, + "count": 509, "id": "UPHENO:0002964" }, { "label": "eye", - "count": 292, + "count": 297, "id": "UPHENO:0003020" }, { "label": "metabolism_homeostasis", - "count": 225, + "count": 228, "id": "HP:0001939" }, { "label": "blood", - "count": 182, + "count": 185, "id": "UPHENO:0004459" }, - { - "label": "cardiovascular_system", - "count": 181, - "id": "UPHENO:0080362" - }, { "label": "connective_tissue", - "count": 172, + "count": 175, "id": "UPHENO:0002712" }, { @@ -51,24 +46,19 @@ "count": 158, "id": "UPHENO:0004536" }, - { - "label": "neoplasm", - "count": 155, - "id": "HP:0002664" - }, { "label": "digestive_system", - "count": 149, + "count": 154, "id": "UPHENO:0002833" }, { "label": "integument", - "count": 47, + "count": 49, "id": "UPHENO:0002635" }, { "label": "genitourinary_system", - "count": 44, + "count": 49, "id": "UPHENO:0002642" }, { @@ -76,6 +66,11 @@ "count": 32, "id": "UPHENO:0049874" }, + { + "label": "immune_system", + "count": 28, + "id": "UPHENO:0002948" + }, { "label": "ear", "count": 28, @@ -86,20 +81,25 @@ "count": 25, "id": "UPHENO:0003116" }, - { - "label": "immune_system", - "count": 23, - "id": "UPHENO:0002948" - }, { "label": "prenatal_or_birth", "count": 22, "id": "UPHENO:0075949" }, + { + "label": "neoplasm", + "count": 7, + "id": "HP:0002664" + }, { "label": "breast", "count": 1, "id": "UPHENO:0003013" + }, + { + "label": "cardiovascular_system", + "count": 0, + "id": "UPHENO:0080362" } ] } diff --git a/frontend/fixtures/mappings.json b/frontend/fixtures/mappings.json index 82731b3a2..780bdee60 100644 --- a/frontend/fixtures/mappings.json +++ b/frontend/fixtures/mappings.json @@ -1,7 +1,7 @@ { "limit": 20, "offset": 0, - "total": 8, + "total": 9, "items": [ { "subject_id": "MONDO:0020121", @@ -10,7 +10,7 @@ "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "3eda4910-e721-4814-b2cd-0739f2eee579" + "id": "4f2e79ec-aeeb-4040-b382-ef6269bf2e65" }, { "subject_id": "MONDO:0020121", @@ -19,7 +19,7 @@ "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "fd45bbd0-9de7-4d93-b491-3b582dfb003c" + "id": "63c3a2fa-4183-46ec-a931-84029dccd9c0" }, { "subject_id": "MONDO:0020121", @@ -28,7 +28,7 @@ "object_id": "MEDGEN:44527", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "abafcd0b-fb7f-404a-8af3-98fba60c72bd" + "id": "f6d14347-cb93-467d-9748-2b72e07cfd53" }, { "subject_id": "MONDO:0020121", @@ -37,7 +37,7 @@ "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "7bd011ab-4a21-451d-9298-9f37ed755977" + "id": "3d4a3827-d4fc-42e5-afed-7e33a6cfa8ac" }, { "subject_id": "MONDO:0020121", @@ -46,7 +46,7 @@ "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "8fde6a2a-f907-4f74-8b7c-6fcd6103ca19" + "id": "9e915435-7914-4115-a06a-65f0052c087b" }, { "subject_id": "MONDO:0020121", @@ -55,7 +55,7 @@ "object_id": "SCTID:73297009", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "167879bf-ba1b-445c-afe7-e2db86cbe795" + "id": "0dd46d38-566d-411d-9969-f72477c4979d" }, { "subject_id": "MONDO:0020121", @@ -64,7 +64,16 @@ "object_id": "UMLS:C0026850", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "a9560c9f-0075-4117-895c-af85ef93ea46" + "id": "a3dfb55d-83e8-4c81-a08d-ca9a856adf3a" + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "icd11.foundation:1464662404", + "object_label": null, + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "633a180e-cd8f-46e9-9501-f86b04efba22" }, { "subject_id": "MONDO:0020121", @@ -73,7 +82,7 @@ "object_id": "MESH:D009136", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e9965a94-a5fb-4f32-b803-dc757b045b5d" + "id": "3a648314-ad03-4942-a741-7c181f1e7e5e" } ] } diff --git a/frontend/fixtures/node.json b/frontend/fixtures/node.json index 85bae5606..1199f4322 100644 --- a/frontend/fixtures/node.json +++ b/frontend/fixtures/node.json @@ -10,6 +10,7 @@ "GARD:7922", "ICD10CM:G71.0", "ICD9:359.1", + "MEDGEN:44527", "MESH:D009136", "MedDRA:10028356", "NANDO:1200486", @@ -24,18 +25,18 @@ "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": "http://purl.obolibrary.org/obo/MONDO_0020121", "iri": null, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": 0, "inheritance": null, "causal_gene": [], - "causes_disease": [], + "causes_disease": null, "mappings": [ { "id": "DOID:9884", @@ -65,6 +66,10 @@ "id": "UMLS:C0026850", "url": "http://identifiers.org/umls/C0026850" }, + { + "id": "icd11.foundation:1464662404", + "url": null + }, { "id": "MESH:D009136", "url": "http://identifiers.org/mesh/D009136" @@ -87,6 +92,10 @@ "id": "ICD9:359.1", "url": null }, + { + "id": "MEDGEN:44527", + "url": "http://identifiers.org/medgen/44527" + }, { "id": "MESH:D009136", "url": "http://identifiers.org/mesh/D009136" @@ -131,7 +140,7 @@ "association_counts": [ { "label": "Phenotype to Disease", - "count": 4012, + "count": 4115, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { @@ -141,7 +150,7 @@ }, { "label": "Correlated Gene", - "count": 146, + "count": 151, "category": "biolink:CorrelatedGeneToDiseaseAssociation" }, { @@ -158,225 +167,225 @@ "node_hierarchy": { "super_classes": [ { - "id": "MONDO:0100546", + "id": "MONDO:0005336", "category": "biolink:Disease", - "name": "hereditary neuromuscular disease", + "name": "myopathy", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0700223", + "id": "MONDO:0100546", "category": "biolink:Disease", - "name": "hereditary skeletal muscle disorder", + "name": "hereditary neuromuscular disease", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0005336", + "id": "MONDO:0700223", "category": "biolink:Disease", - "name": "myopathy", + "name": "hereditary skeletal muscle disorder", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null } ], "sub_classes": [ { - "id": "MONDO:0010675", + "id": "MONDO:0008028", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "muscular dystrophy, Barnes type", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0010676", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "Becker muscular dystrophy", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0010677", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "muscular dystrophy, cardiac type", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0010678", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0010679", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "muscular dystrophy, Mabry type", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0010311", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0008028", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "Duchenne muscular dystrophy", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { @@ -386,63 +395,63 @@ "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0018949", + "id": "MONDO:0019950", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "congenital muscular dystrophy", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { - "id": "MONDO:0019950", + "id": "MONDO:0018949", "category": "biolink:Disease", - "name": "congenital muscular dystrophy", + "name": "distal myopathy", "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { @@ -452,19 +461,19 @@ "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, { @@ -474,19 +483,19 @@ "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null } ] diff --git a/frontend/fixtures/phenotype-explorer-compare.json b/frontend/fixtures/phenotype-explorer-compare.json index 1b8f5d773..2e550f8db 100644 --- a/frontend/fixtures/phenotype-explorer-compare.json +++ b/frontend/fixtures/phenotype-explorer-compare.json @@ -1,12 +1,12 @@ { "subject_termset": { - "MP:0002169": { - "id": "MP:0002169", - "label": "no abnormal phenotype detected" - }, "MP:0010771": { "id": "MP:0010771", "label": "integument phenotype" + }, + "MP:0002169": { + "id": "MP:0002169", + "label": "no abnormal phenotype detected" } }, "object_termset": { diff --git a/frontend/fixtures/phenotype-explorer-multi-compare.json b/frontend/fixtures/phenotype-explorer-multi-compare.json index 389fa8c1a..14ef49949 100644 --- a/frontend/fixtures/phenotype-explorer-multi-compare.json +++ b/frontend/fixtures/phenotype-explorer-multi-compare.json @@ -7,72 +7,69 @@ "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, - "score": 8.608834726850038, + "score": 8.60883472685004, "similarity": { "subject_termset": { - "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, - "HP:0002020": { - "id": "HP:0002020", - "label": "Gastroesophageal reflux" - }, + "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" }, "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" }, + "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, "HP:0004944": { "id": "HP:0004944", "label": "Dilatation of the cerebral artery" }, "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" }, - "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" }, - "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" } + "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" }, + "HP:0002020": { "id": "HP:0002020", "label": "Gastroesophageal reflux" } }, "object_termset": { - "MP:0011960": { - "id": "MP:0011960", - "label": "abnormal eye anterior chamber depth" - }, + "MP:0001262": { "id": "MP:0001262", "label": "decreased body weight" }, + "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" }, "MP:0008489": { "id": "MP:0008489", "label": "slow postnatal weight gain" }, - "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" }, - "MP:0001262": { "id": "MP:0001262", "label": "decreased body weight" }, - "MP:0011962": { - "id": "MP:0011962", - "label": "increased cornea thickness" - }, - "MP:0003731": { - "id": "MP:0003731", - "label": "abnormal retina outer nuclear layer morphology" - }, "MP:0003291": { "id": "MP:0003291", "label": "interstinal hyperperistalsis" }, + "MP:0011960": { + "id": "MP:0011960", + "label": "abnormal eye anterior chamber depth" + }, + "MP:0011962": { + "id": "MP:0011962", + "label": "increased cornea thickness" + }, "MP:0011965": { "id": "MP:0011965", "label": "decreased total retina thickness" + }, + "MP:0003731": { + "id": "MP:0003731", + "label": "abnormal retina outer nuclear layer morphology" } }, "subject_best_matches": { "HP:0001533": { "match_source": "HP:0001533", "match_source_label": "Slender build", - "match_target": "MP:0008489", - "match_target_label": "slow postnatal weight gain", + "match_target": "MP:0001262", + "match_target_label": "decreased body weight", "score": 13.667892510789482, "match_subsumer": null, "match_subsumer_label": null, @@ -80,7 +77,7 @@ "subject_id": "HP:0001533", "subject_label": null, "subject_source": null, - "object_id": "MP:0008489", + "object_id": "MP:0001262", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0082794", @@ -89,18 +86,18 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 13.667892510789482, - "jaccard_similarity": 0.38333333333333336, + "jaccard_similarity": 0.40384615384615385, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 2.2889645684900053 + "phenodigm_score": 2.34940967514501 }, "score_metric": "ancestor_information_content" }, "HP:0001763": { "match_source": "HP:0001763", "match_source_label": "Pes planus", - "match_target": "MP:0002834", - "match_target_label": "decreased heart weight", + "match_target": "MP:0011962", + "match_target_label": "increased cornea thickness", "score": 3.066606173373863, "match_subsumer": null, "match_subsumer_label": null, @@ -108,7 +105,7 @@ "subject_id": "HP:0001763", "subject_label": null, "subject_source": null, - "object_id": "MP:0002834", + "object_id": "MP:0011962", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0015280", @@ -117,10 +114,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 3.066606173373863, - "jaccard_similarity": 0.203125, + "jaccard_similarity": 0.16049382716049382, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.7892429150563 + "phenodigm_score": 0.7015492578278222 }, "score_metric": "ancestor_information_content" }, @@ -211,8 +208,8 @@ "HP:0010749": { "match_source": "HP:0010749", "match_source_label": "Blepharochalasis", - "match_target": "MP:0003731", - "match_target_label": "abnormal retina outer nuclear layer morphology", + "match_target": "MP:0011960", + "match_target_label": "abnormal eye anterior chamber depth", "score": 6.6792078240173165, "match_subsumer": null, "match_subsumer_label": null, @@ -220,7 +217,7 @@ "subject_id": "HP:0010749", "subject_label": null, "subject_source": null, - "object_id": "MP:0003731", + "object_id": "MP:0011960", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0087924", @@ -229,10 +226,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 6.6792078240173165, - "jaccard_similarity": 0.23076923076923078, + "jaccard_similarity": 0.26865671641791045, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.2415134520802842 + "phenodigm_score": 1.3395574053669028 }, "score_metric": "ancestor_information_content" }, @@ -281,8 +278,8 @@ "object_id": "HP:0001533", "object_label": null, "object_source": null, - "ancestor_id": "UPHENO:0054299", - "ancestor_label": "decreased multicellular organism mass", + "ancestor_id": "UPHENO:0082794", + "ancestor_label": "Decreased multicellular organism mass", "ancestor_source": null, "object_information_content": null, "subject_information_content": null, @@ -309,8 +306,8 @@ "object_id": "HP:0001533", "object_label": null, "object_source": null, - "ancestor_id": "UPHENO:0054261", - "ancestor_label": "decreased anatomical entity mass", + "ancestor_id": "UPHENO:0082761", + "ancestor_label": "Decreased anatomical entity mass", "ancestor_source": null, "object_information_content": null, "subject_information_content": null, @@ -491,7 +488,7 @@ "score_metric": "ancestor_information_content" } }, - "average_score": 8.608834726850038, + "average_score": 8.60883472685004, "best_score": 13.667892510789482, "metric": "AncestorInformationContent" } @@ -504,48 +501,40 @@ "full_name": null, "deprecated": null, "description": null, - "xref": [], + "xref": null, "provided_by": null, "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [], + "synonym": null, "uri": null, "iri": null, "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": null }, - "score": 7.343905449061466, + "score": 7.343905449061465, "similarity": { "subject_termset": { - "HP:0002020": { - "id": "HP:0002020", - "label": "Gastroesophageal reflux" - }, - "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" }, "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" }, "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" }, + "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" }, "HP:0004944": { "id": "HP:0004944", "label": "Dilatation of the cerebral artery" }, - "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" } + "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, + "HP:0002020": { "id": "HP:0002020", "label": "Gastroesophageal reflux" } }, "object_termset": { "MP:0004022": { "id": "MP:0004022", "label": "abnormal cone electrophysiology" }, - "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" }, - "MP:0006264": { - "id": "MP:0006264", - "label": "decreased systemic arterial systolic blood pressure" - }, "MP:0000233": { "id": "MP:0000233", "label": "abnormal blood flow velocity" @@ -554,13 +543,13 @@ "id": "MP:0000272", "label": "abnormal aorta morphology" }, - "MP:0000230": { - "id": "MP:0000230", - "label": "abnormal systemic arterial blood pressure" + "MP:0003026": { + "id": "MP:0003026", + "label": "decreased vasoconstriction" }, - "MP:0009862": { - "id": "MP:0009862", - "label": "abnormal aorta elastic tissue morphology" + "MP:0006264": { + "id": "MP:0006264", + "label": "decreased systemic arterial systolic blood pressure" }, "MP:0004021": { "id": "MP:0004021", @@ -570,9 +559,14 @@ "id": "MP:0003070", "label": "increased vascular permeability" }, - "MP:0003026": { - "id": "MP:0003026", - "label": "decreased vasoconstriction" + "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" }, + "MP:0000230": { + "id": "MP:0000230", + "label": "abnormal systemic arterial blood pressure" + }, + "MP:0009862": { + "id": "MP:0009862", + "label": "abnormal aorta elastic tissue morphology" } }, "subject_best_matches": { @@ -635,8 +629,8 @@ "HP:0002020": { "match_source": "HP:0002020", "match_source_label": "Gastroesophageal reflux", - "match_target": "MP:0000230", - "match_target_label": "abnormal systemic arterial blood pressure", + "match_target": "MP:0004022", + "match_target_label": "abnormal cone electrophysiology", "score": 5.132448071645384, "match_subsumer": null, "match_subsumer_label": null, @@ -644,7 +638,7 @@ "subject_id": "HP:0002020", "subject_label": null, "subject_source": null, - "object_id": "MP:0000230", + "object_id": "MP:0004022", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0002332", @@ -653,10 +647,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 5.132448071645384, - "jaccard_similarity": 0.35294117647058826, + "jaccard_similarity": 0.32432432432432434, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.3459020248817237 + "phenodigm_score": 1.2901851622794578 }, "score_metric": "ancestor_information_content" }, @@ -691,8 +685,8 @@ "HP:0004944": { "match_source": "HP:0004944", "match_source_label": "Dilatation of the cerebral artery", - "match_target": "MP:0000272", - "match_target_label": "abnormal aorta morphology", + "match_target": "MP:0009862", + "match_target_label": "abnormal aorta elastic tissue morphology", "score": 9.101342047182207, "match_subsumer": null, "match_subsumer_label": null, @@ -700,7 +694,7 @@ "subject_id": "HP:0004944", "subject_label": null, "subject_source": null, - "object_id": "MP:0000272", + "object_id": "MP:0009862", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0087334", @@ -709,10 +703,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 9.101342047182207, - "jaccard_similarity": 0.2807017543859649, + "jaccard_similarity": 0.25757575757575757, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.5983624995321914 + "phenodigm_score": 1.5311058332979641 }, "score_metric": "ancestor_information_content" }, @@ -747,8 +741,8 @@ "HP:0012450": { "match_source": "HP:0012450", "match_source_label": "Chronic constipation", - "match_target": "MP:0003026", - "match_target_label": "decreased vasoconstriction", + "match_target": "MP:0004022", + "match_target_label": "abnormal cone electrophysiology", "score": 5.132448071645384, "match_subsumer": null, "match_subsumer_label": null, @@ -756,7 +750,7 @@ "subject_id": "HP:0012450", "subject_label": null, "subject_source": null, - "object_id": "MP:0003026", + "object_id": "MP:0004022", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0002332", @@ -765,10 +759,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 5.132448071645384, - "jaccard_similarity": 0.2727272727272727, + "jaccard_similarity": 0.36363636363636365, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.1831139273097055 + "phenodigm_score": 1.3661422888285077 }, "score_metric": "ancestor_information_content" } @@ -777,8 +771,8 @@ "MP:0000230": { "match_source": "MP:0000230", "match_source_label": "abnormal systemic arterial blood pressure", - "match_target": "HP:0004944", - "match_target_label": "Dilatation of the cerebral artery", + "match_target": "HP:0002616", + "match_target_label": "Aortic root aneurysm", "score": 7.3467487024345575, "match_subsumer": null, "match_subsumer_label": null, @@ -786,7 +780,7 @@ "subject_id": "MP:0000230", "subject_label": null, "subject_source": null, - "object_id": "HP:0004944", + "object_id": "HP:0002616", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0080362", @@ -795,10 +789,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.3467487024345575, - "jaccard_similarity": 0.19642857142857142, + "jaccard_similarity": 0.2558139534883721, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.2012956972635551 + "phenodigm_score": 1.3709124081630277 }, "score_metric": "ancestor_information_content" }, @@ -889,8 +883,8 @@ "MP:0003026": { "match_source": "MP:0003026", "match_source_label": "decreased vasoconstriction", - "match_target": "HP:0002616", - "match_target_label": "Aortic root aneurysm", + "match_target": "HP:0004944", + "match_target_label": "Dilatation of the cerebral artery", "score": 7.3467487024345575, "match_subsumer": null, "match_subsumer_label": null, @@ -898,7 +892,7 @@ "subject_id": "MP:0003026", "subject_label": null, "subject_source": null, - "object_id": "HP:0002616", + "object_id": "HP:0004944", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0080362", @@ -907,18 +901,18 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.3467487024345575, - "jaccard_similarity": 0.21428571428571427, + "jaccard_similarity": 0.17391304347826086, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.2547124345358316 + "phenodigm_score": 1.1303519038380736 }, "score_metric": "ancestor_information_content" }, "MP:0003070": { "match_source": "MP:0003070", "match_source_label": "increased vascular permeability", - "match_target": "HP:0002616", - "match_target_label": "Aortic root aneurysm", + "match_target": "HP:0004944", + "match_target_label": "Dilatation of the cerebral artery", "score": 7.3467487024345575, "match_subsumer": null, "match_subsumer_label": null, @@ -926,7 +920,7 @@ "subject_id": "MP:0003070", "subject_label": null, "subject_source": null, - "object_id": "HP:0002616", + "object_id": "HP:0004944", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0080362", @@ -935,10 +929,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.3467487024345575, - "jaccard_similarity": 0.32653061224489793, + "jaccard_similarity": 0.25806451612903225, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.5488506551037662 + "phenodigm_score": 1.3769296093175458 }, "score_metric": "ancestor_information_content" }, @@ -1001,8 +995,8 @@ "MP:0006264": { "match_source": "MP:0006264", "match_source_label": "decreased systemic arterial systolic blood pressure", - "match_target": "HP:0004944", - "match_target_label": "Dilatation of the cerebral artery", + "match_target": "HP:0002616", + "match_target_label": "Aortic root aneurysm", "score": 7.3467487024345575, "match_subsumer": null, "match_subsumer_label": null, @@ -1010,7 +1004,7 @@ "subject_id": "MP:0006264", "subject_label": null, "subject_source": null, - "object_id": "HP:0004944", + "object_id": "HP:0002616", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0080362", @@ -1019,10 +1013,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.3467487024345575, - "jaccard_similarity": 0.1896551724137931, + "jaccard_similarity": 0.24444444444444444, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.1804020043362502 + "phenodigm_score": 1.340101453263729 }, "score_metric": "ancestor_information_content" }, @@ -1055,7 +1049,7 @@ "score_metric": "ancestor_information_content" } }, - "average_score": 7.343905449061466, + "average_score": 7.343905449061465, "best_score": 10.484095334765613, "metric": "AncestorInformationContent" } diff --git a/frontend/fixtures/phenotype-explorer-search.json b/frontend/fixtures/phenotype-explorer-search.json index 99ff9d3ce..391b75f5a 100644 --- a/frontend/fixtures/phenotype-explorer-search.json +++ b/frontend/fixtures/phenotype-explorer-search.json @@ -31,62 +31,65 @@ "has_phenotype": ["ZP:0018569"], "has_phenotype_label": ["myeloid cell development absent, abnormal"], "has_phenotype_closure": [ - "UPHENO:0034024", "ZP:0018569", - "BFO:0000020", - "ZP:0014956", - "BFO:0000015", - "BFO:0000001", - "PATO:0000001", + "GO:0030154", + "GO:0030099", "UPHENO:0001003", "GO:0030097", + "GO:0009987", + "GO:0048468", + "GO:0032502", + "UPHENO:0001002", + "BFO:0000015", + "UPHENO:0034024", + "UPHENO:0034073", + "PATO:0000001", + "BFO:0000001", "GO:0048856", - "GO:0030099", - "GO:0030154", + "GO:0061515", + "ZP:0000000", + "GO:0048869", + "ZP:0014956", "GO:0008150", "ZP:0131284", "UPHENO:0078513", + "UPHENO:0034081", "BFO:0000002", "BFO:0000003", - "GO:0032502", - "UPHENO:0001002", - "ZP:00000000", - "GO:0048468", - "UPHENO:0001005", - "GO:0048869", - "GO:0009987", - "GO:0061515", - "UPHENO:0001001" + "UPHENO:0001001", + "BFO:0000020" ], "has_phenotype_closure_label": [ - "abnormal phenotype by ontology source", + "absent cellular process", + "process", "myeloid cell development absent, abnormal", + "occurrent", "absent myeloid cell development", - "myeloid cell differentiation", - "hemopoiesis", - "hemopoiesis quality, abnormal", - "cellular process", "developmental process", - "process", + "cellular process", + "hemopoiesis quality, abnormal", + "biological_process", + "continuant", "myeloid cell development", "entity", - "specifically dependent continuant", + "hemopoiesis", + "taxon specific phenotype", "cellular developmental process", + "specifically dependent continuant", + "phenotypic effect", + "myeloid cell differentiation", + "absent developmental process", + "cell development", + "biological_process quality, abnormal", + "Zebrafish Phenotype", + "quality", "anatomical structure development", "cell differentiation", - "quality", - "Phenotypic abnormality", - "continuant", - "biological_process", - "Zebrafish Phenotype", - "biological_process quality, abnormal", - "cell development", - "phenotype", - "phenotype by ontology source", - "occurrent", - "absent biological_process" + "absent biological_process", + "phenotype" ], - "has_phenotype_count": 1 + "has_phenotype_count": 1, + "type": ["SO:0001217"] }, "score": 7.011754466426716, "similarity": { @@ -97,8 +100,8 @@ } }, "object_termset": { - "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }, - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" } + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }, + "HP:0002104": { "id": "HP:0002104", "label": "Apnea" } }, "subject_best_matches": { "ZP:0018569": { @@ -224,91 +227,94 @@ "myeloid cell development absent, abnormal" ], "has_phenotype_closure": [ - "GO:0061515", "UPHENO:0078513", + "GO:0061515", + "UPHENO:0001003", + "UPHENO:0078511", + "BFO:0000020", + "ZP:0018569", + "UPHENO:0001001", + "GO:0009790", + "GO:0008150", + "ZP:0131284", + "GO:0048856", + "GO:0060215", "GO:0007275", - "UPHENO:0034024", + "ZP:0000000", "BFO:0000001", - "PATO:0000001", + "UPHENO:0034073", "ZP:0018568", - "GO:0009790", - "ZP:0018569", - "UPHENO:0001001", - "UPHENO:0001003", - "UPHENO:0078511", - "BFO:0000002", + "PATO:0000001", + "GO:0035162", + "UPHENO:0034081", + "BFO:0000015", + "UPHENO:0034024", "GO:0030099", "GO:0048869", - "UPHENO:0001005", + "BFO:0000002", + "ZP:0014956", + "GO:0048568", "UPHENO:0001002", "BFO:0000003", "GO:0032502", "GO:0048513", - "GO:0030154", + "GO:0032501", + "GO:0030097", "GO:0048468", "GO:0009987", - "GO:0060215", - "GO:0030097", - "GO:0032501", - "ZP:00000000", - "GO:0035162", - "GO:0048856", - "ZP:0131284", - "GO:0008150", - "BFO:0000015", - "GO:0048568", - "ZP:0014956", - "BFO:0000020" + "GO:0030154" ], "has_phenotype_closure_label": [ - "myeloid cell development", "absent myeloid cell development", + "myeloid cell development", "myeloid cell differentiation", + "cellular developmental process", "absent biological_process", "embryo development", + "absent cellular process", + "Zebrafish Phenotype", + "embryonic organ development", + "biological_process quality, abnormal", + "cell development", + "absent developmental process", + "multicellular organism development", + "process", + "occurrent", + "phenotypic effect", "specifically dependent continuant", - "cellular developmental process", + "hemopoiesis", + "embryonic hemopoiesis", "animal organ development", "entity", - "cell development", - "biological_process", - "multicellular organismal process", - "continuant", - "Zebrafish Phenotype", - "Phenotypic abnormality", - "quality", - "phenotype", - "occurrent", - "phenotype by ontology source", - "abnormal phenotype by ontology source", "absent primitive hemopoiesis", "cell differentiation", - "primitive hemopoiesis absent, abnormal", "anatomical structure development", - "process", - "myeloid cell development absent, abnormal", - "primitive hemopoiesis", - "biological_process quality, abnormal", - "embryonic organ development", - "developmental process", - "cellular process", + "primitive hemopoiesis absent, abnormal", + "multicellular organismal process", + "continuant", + "biological_process", + "phenotype", + "quality", + "taxon specific phenotype", "hemopoiesis quality, abnormal", - "multicellular organism development", - "hemopoiesis", - "embryonic hemopoiesis" + "cellular process", + "developmental process", + "myeloid cell development absent, abnormal", + "primitive hemopoiesis" ], - "has_phenotype_count": 2 + "has_phenotype_count": 2, + "type": ["SO:0001217"] }, "score": 7.011754466426716, "similarity": { "subject_termset": { - "ZP:0018569": { - "id": "ZP:0018569", - "label": "myeloid cell development absent, abnormal" - }, "ZP:0018568": { "id": "ZP:0018568", "label": "primitive hemopoiesis absent, abnormal" + }, + "ZP:0018569": { + "id": "ZP:0018569", + "label": "myeloid cell development absent, abnormal" } }, "object_termset": { @@ -459,102 +465,105 @@ "uri": "https://identifiers.org/zfin/ZDB-GENE-030131-5264", "iri": null, "namespace": "ZFIN", - "has_phenotype": ["ZP:0018568", "ZP:0018569"], + "has_phenotype": ["ZP:0018569", "ZP:0018568"], "has_phenotype_label": [ - "primitive hemopoiesis absent, abnormal", - "myeloid cell development absent, abnormal" + "myeloid cell development absent, abnormal", + "primitive hemopoiesis absent, abnormal" ], "has_phenotype_closure": [ - "GO:0061515", + "GO:0060215", + "GO:0048513", + "GO:0009790", + "UPHENO:0078511", + "GO:0035162", + "BFO:0000020", + "BFO:0000002", "UPHENO:0078513", - "GO:0007275", - "UPHENO:0034024", + "GO:0008150", + "GO:0048568", + "ZP:0014956", + "GO:0061515", + "ZP:0131284", + "GO:0048856", + "ZP:0000000", "BFO:0000001", "PATO:0000001", + "UPHENO:0034073", "ZP:0018568", - "GO:0009790", - "ZP:0018569", - "UPHENO:0001001", - "UPHENO:0001003", - "UPHENO:0078511", - "BFO:0000002", - "GO:0030099", - "GO:0048869", - "UPHENO:0001005", + "UPHENO:0034024", + "UPHENO:0034081", + "BFO:0000015", "UPHENO:0001002", "BFO:0000003", "GO:0032502", - "GO:0048513", - "GO:0030154", + "GO:0032501", + "GO:0030097", + "UPHENO:0001003", + "GO:0048869", + "GO:0030099", "GO:0048468", "GO:0009987", - "GO:0060215", - "GO:0030097", - "GO:0032501", - "ZP:00000000", - "GO:0035162", - "GO:0048856", - "ZP:0131284", - "GO:0008150", - "BFO:0000015", - "GO:0048568", - "ZP:0014956", - "BFO:0000020" + "GO:0030154", + "UPHENO:0001001", + "ZP:0018569", + "GO:0007275" ], "has_phenotype_closure_label": [ - "myeloid cell development", - "absent myeloid cell development", - "myeloid cell differentiation", + "multicellular organismal process", + "embryonic hemopoiesis", + "multicellular organism development", "absent biological_process", "embryo development", - "specifically dependent continuant", - "cellular developmental process", - "animal organ development", - "entity", - "cell development", - "biological_process", - "multicellular organismal process", - "continuant", - "Zebrafish Phenotype", - "Phenotypic abnormality", - "quality", - "phenotype", - "occurrent", - "phenotype by ontology source", - "abnormal phenotype by ontology source", "absent primitive hemopoiesis", "cell differentiation", "primitive hemopoiesis absent, abnormal", "anatomical structure development", - "process", - "myeloid cell development absent, abnormal", - "primitive hemopoiesis", - "biological_process quality, abnormal", + "phenotype", + "quality", "embryonic organ development", - "developmental process", - "cellular process", - "hemopoiesis quality, abnormal", - "multicellular organism development", + "biological_process quality, abnormal", + "cell development", + "absent developmental process", + "myeloid cell differentiation", + "phenotypic effect", + "specifically dependent continuant", + "cellular developmental process", "hemopoiesis", - "embryonic hemopoiesis" + "entity", + "myeloid cell development", + "animal organ development", + "continuant", + "biological_process", + "taxon specific phenotype", + "hemopoiesis quality, abnormal", + "cellular process", + "developmental process", + "absent myeloid cell development", + "occurrent", + "primitive hemopoiesis", + "myeloid cell development absent, abnormal", + "process", + "Zebrafish Phenotype", + "absent cellular process" ], - "has_phenotype_count": 2 + "has_phenotype_count": 2, + "type": ["SO:0001217"] }, "score": 7.011754466426716, "similarity": { "subject_termset": { - "ZP:0018569": { - "id": "ZP:0018569", - "label": "myeloid cell development absent, abnormal" - }, "ZP:0018568": { "id": "ZP:0018568", "label": "primitive hemopoiesis absent, abnormal" - } + }, + "ZP:0018569": { + "id": "ZP:0018569", + "label": "myeloid cell development absent, abnormal" + } }, "object_termset": { - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }, - "HP:0002104": { "id": "HP:0002104", "label": "Apnea" } + "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }, + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" } }, "subject_best_matches": { "ZP:0018568": { @@ -618,8 +627,8 @@ "HP:0002104": { "match_source": "HP:0002104", "match_source_label": "Apnea", - "match_target": "ZP:0018569", - "match_target_label": "myeloid cell development absent, abnormal", + "match_target": "ZP:0018568", + "match_target_label": "primitive hemopoiesis absent, abnormal", "score": 8.79057503056431, "match_subsumer": null, "match_subsumer_label": null, @@ -627,7 +636,7 @@ "subject_id": "HP:0002104", "subject_label": null, "subject_source": null, - "object_id": "ZP:0018569", + "object_id": "ZP:0018568", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0034024", @@ -707,86 +716,89 @@ "uri": "https://identifiers.org/zfin/ZDB-GENE-121214-344", "iri": null, "namespace": "ZFIN", - "has_phenotype": ["ZP:0018569", "ZP:0018568"], + "has_phenotype": ["ZP:0018568", "ZP:0018569"], "has_phenotype_label": [ - "myeloid cell development absent, abnormal", - "primitive hemopoiesis absent, abnormal" + "primitive hemopoiesis absent, abnormal", + "myeloid cell development absent, abnormal" ], "has_phenotype_closure": [ - "GO:0007275", - "GO:0060215", - "ZP:0018568", - "GO:0048513", - "GO:0009790", + "UPHENO:0078513", "GO:0061515", - "UPHENO:0001005", - "GO:0035162", - "ZP:00000000", - "UPHENO:0001002", - "GO:0032502", - "BFO:0000003", + "UPHENO:0001003", "UPHENO:0078511", - "BFO:0000002", - "UPHENO:0078513", + "BFO:0000020", + "ZP:0018569", + "UPHENO:0001001", + "GO:0009790", "GO:0008150", - "GO:0009987", - "GO:0048468", - "GO:0030154", - "GO:0048869", - "GO:0030099", "ZP:0131284", "GO:0048856", - "GO:0032501", - "GO:0030097", - "UPHENO:0001003", - "PATO:0000001", + "GO:0060215", + "GO:0007275", + "ZP:0000000", "BFO:0000001", + "UPHENO:0034073", + "ZP:0018568", + "PATO:0000001", + "GO:0035162", + "UPHENO:0034081", "BFO:0000015", - "BFO:0000020", - "UPHENO:0001001", - "ZP:0018569", "UPHENO:0034024", + "GO:0030099", + "GO:0048869", + "BFO:0000002", "ZP:0014956", - "GO:0048568" + "GO:0048568", + "UPHENO:0001002", + "BFO:0000003", + "GO:0032502", + "GO:0048513", + "GO:0032501", + "GO:0030097", + "GO:0048468", + "GO:0009987", + "GO:0030154" ], "has_phenotype_closure_label": [ - "embryonic hemopoiesis", - "multicellular organism development", - "multicellular organismal process", + "absent myeloid cell development", + "myeloid cell development", + "myeloid cell differentiation", + "cellular developmental process", "absent biological_process", "embryo development", - "occurrent", - "phenotype by ontology source", - "cell development", + "absent cellular process", + "Zebrafish Phenotype", "embryonic organ development", "biological_process quality, abnormal", - "biological_process", - "continuant", - "Zebrafish Phenotype", - "Phenotypic abnormality", - "phenotype", - "quality", - "primitive hemopoiesis absent, abnormal", - "anatomical structure development", - "cellular developmental process", - "specifically dependent continuant", - "entity", - "myeloid cell development", - "animal organ development", + "cell development", + "absent developmental process", + "multicellular organism development", "process", - "developmental process", - "cellular process", - "hemopoiesis quality, abnormal", + "occurrent", + "phenotypic effect", + "specifically dependent continuant", "hemopoiesis", - "myeloid cell differentiation", - "absent myeloid cell development", + "embryonic hemopoiesis", + "animal organ development", + "entity", "absent primitive hemopoiesis", "cell differentiation", - "abnormal phenotype by ontology source", + "anatomical structure development", + "primitive hemopoiesis absent, abnormal", + "multicellular organismal process", + "continuant", + "biological_process", + "phenotype", + "quality", + "taxon specific phenotype", + "hemopoiesis quality, abnormal", + "cellular process", + "developmental process", "myeloid cell development absent, abnormal", "primitive hemopoiesis" ], - "has_phenotype_count": 2 + "has_phenotype_count": 2, + "type": ["SO:0001217"] }, "score": 7.011754466426716, "similarity": { @@ -961,80 +973,83 @@ "primitive hemopoiesis absent, abnormal" ], "has_phenotype_closure": [ - "GO:0007275", "GO:0060215", - "ZP:0018568", "GO:0048513", "GO:0009790", - "GO:0061515", - "UPHENO:0001005", - "GO:0035162", - "ZP:00000000", - "UPHENO:0001002", - "GO:0032502", - "BFO:0000003", "UPHENO:0078511", + "GO:0035162", + "BFO:0000020", "BFO:0000002", "UPHENO:0078513", "GO:0008150", - "GO:0009987", - "GO:0048468", - "GO:0030154", - "GO:0048869", - "GO:0030099", + "GO:0048568", + "ZP:0014956", + "GO:0061515", "ZP:0131284", "GO:0048856", + "ZP:0000000", + "BFO:0000001", + "PATO:0000001", + "UPHENO:0034073", + "ZP:0018568", + "UPHENO:0034024", + "UPHENO:0034081", + "BFO:0000015", + "UPHENO:0001002", + "BFO:0000003", + "GO:0032502", "GO:0032501", "GO:0030097", "UPHENO:0001003", - "PATO:0000001", - "BFO:0000001", - "BFO:0000015", - "BFO:0000020", + "GO:0048869", + "GO:0030099", + "GO:0048468", + "GO:0009987", + "GO:0030154", "UPHENO:0001001", "ZP:0018569", - "UPHENO:0034024", - "ZP:0014956", - "GO:0048568" + "GO:0007275" ], "has_phenotype_closure_label": [ + "multicellular organismal process", "embryonic hemopoiesis", "multicellular organism development", - "multicellular organismal process", "absent biological_process", "embryo development", - "occurrent", - "phenotype by ontology source", - "cell development", - "embryonic organ development", - "biological_process quality, abnormal", - "biological_process", - "continuant", - "Zebrafish Phenotype", - "Phenotypic abnormality", - "phenotype", - "quality", + "absent primitive hemopoiesis", + "cell differentiation", "primitive hemopoiesis absent, abnormal", "anatomical structure development", - "cellular developmental process", + "phenotype", + "quality", + "embryonic organ development", + "biological_process quality, abnormal", + "cell development", + "absent developmental process", + "myeloid cell differentiation", + "phenotypic effect", "specifically dependent continuant", + "cellular developmental process", + "hemopoiesis", "entity", "myeloid cell development", "animal organ development", - "process", - "developmental process", - "cellular process", + "continuant", + "biological_process", + "taxon specific phenotype", "hemopoiesis quality, abnormal", - "hemopoiesis", - "myeloid cell differentiation", + "cellular process", + "developmental process", "absent myeloid cell development", - "absent primitive hemopoiesis", - "cell differentiation", - "abnormal phenotype by ontology source", + "occurrent", + "primitive hemopoiesis", "myeloid cell development absent, abnormal", - "primitive hemopoiesis" + "process", + "Zebrafish Phenotype", + "absent cellular process" ], - "has_phenotype_count": 2 + "has_phenotype_count": 2, + "type": ["SO:0001217"] }, "score": 7.011754466426716, "similarity": { @@ -1186,7 +1201,7 @@ "in_taxon": "NCBITaxon:7955", "in_taxon_label": "Danio rerio", "symbol": "poa", - "synonym": [], + "synonym": null, "uri": "https://identifiers.org/zfin/ZDB-GENE-070117-2249", "iri": null, "namespace": "ZFIN", @@ -1196,155 +1211,87 @@ "pigment cell quality, abnormal" ], "has_phenotype_closure": [ - "NCBITaxon:7954", - "NCBITaxon:6072", - "NCBITaxon:2743709", - "NCBITaxon:186625", - "NCBITaxon:32519", - "OBI:0100026", - "ZP:0000945", - "NCBITaxon:186626", "ZP:0107311", - "NCBITaxon:186634", - "ZFA:0009090", - "UPHENO:0034024", - "BFO:0000020", + "UPHENO:0002536", + "UPHENO:0002525", + "ZP:0000945", + "UBERON:0000061", + "ZP:0107301", + "ZP:0100294", + "GO:0008150", + "ZP:0131284", + "BFO:0000040", + "UBERON:0000465", + "UPHENO:0034007", + "GO:0007600", + "GO:0003008", "BFO:0000015", - "UPHENO:0001005", - "NCBITaxon:117571", - "NCBITaxon:2759", - "UBERON:0001062", - "ZFA:0100000", + "UPHENO:0002530", "GO:0050953", - "NCBITaxon:7742", + "UPHENO:0034008", + "BFO:0000020", + "GO:0050877", + "UPHENO:0034024", "BFO:0000002", - "UBERON:0000465", - "GO:0003008", - "NCBITaxon:33208", - "ZP:00000000", - "NCBITaxon:1489341", - "NCBITaxon:7711", - "UPHENO:0078456", - "CL:0000325", + "UBERON:0001062", "ZP:0001840", - "NCBITaxon:33511", - "GO:0032501", - "GO:0007601", + "UPHENO:0078456", + "BFO:0000003", + "PATO:0000001", + "UPHENO:0034014", + "UPHENO:0034009", "UPHENO:0001001", - "BFO:0000004", - "NCBITaxon:30727", - "GO:0050877", + "GO:0007601", + "UPHENO:0001003", "UPHENO:0001002", - "ZP:0100294", - "UBERON:0000468", - "GO:0007600", - "ZP:0131284", - "BFO:0000001", + "BFO:0000004", + "GO:0032501", "ZP:0107296", - "PATO:0000001", - "ZFA:0001094", - "CL:0000147", - "NCBITaxon:7776", - "GO:0008150", - "NCBITaxon:1", - "ZP:0100009", - "ZP:0107301", - "ZFA:0000037", - "CL:0000000", - "NCBITaxon:186627", - "NCBITaxon:7898", - "BFO:0000003", - "NCBITaxon:117570", - "NCBITaxon:89593", - "NCBITaxon:186623", - "UPHENO:0001003", - "NCBITaxon:41665", - "NCBITaxon:2743711", - "NCBITaxon:33154", - "BFO:0000040", - "ZFA:0009000", - "UBERON:0010000", - "UBERON:0000061", - "NCBITaxon:7952", - "NCBITaxon:33213", - "NCBITaxon:32443", - "UPHENO:0002536", - "NCBITaxon:131567" + "BFO:0000001", + "ZP:0000000" ], "has_phenotype_closure_label": [ - "Bilateria", - "anatomical entity", - "Cyprinoidei", - "Cypriniformes", - "Eumetazoa", - "zebrafish anatomical entity", - "Chordata", - "phenotype by ontology source", - "whole organism", - "pigment cell quality, abnormal", - "process", - "entity", - "root", - "quality", - "phenotype", - "Gnathostomata ", - "Otomorpha", - "visual perception quality, abnormal", - "sensory perception", - "Phenotypic abnormality", + "independent continuant", + "zebrafish anatomical entity quality, abnormal", + "anatomical entity phenotype", + "material anatomical entity", "anatomical structure", - "system process", - "continuant", - "absent visual perception", - "Osteoglossocephalai", - "pigment cell", - "multicellular anatomical structure", - "visual perception", - "biological_process", "cell quality, abnormal", - "Neopterygii", - "nervous system process", - "specifically dependent continuant", - "Deuterostomia", - "Opisthokonta", - "cellular organisms", - "cell", - "Cypriniphysae", - "abnormal phenotype by ontology source", - "Metazoa", - "Clupeocephala", - "Danioninae", - "sensory perception of light stimulus", + "anatomical structure phenotype", + "anatomical entity", "anatomical structure quality, abnormal", - "occurrent", - "abnormal anatomical entity", - "biological_process quality, abnormal", - "Craniata ", "absent biological_process", - "Vertebrata ", - "Ostariophysi", - "multicellular organism", - "material entity", - "Teleostomi", - "Euteleostomi", - "multicellular organismal process", - "Danionidae", - "whole organism quality, abnormal", - "independent continuant", - "zebrafish anatomical entity quality, abnormal", - "visual perception absent, abnormal", - "organism", + "biological_process", + "visual perception", "Zebrafish Phenotype", - "material anatomical entity", - "Actinopterygii", - "Teleostei", - "Actinopteri", - "Eukaryota", - "Danio", - "stuff accumulating cell", - "Otophysi" + "biological_process quality, abnormal", + "visual perception quality, abnormal", + "visual perception absent, abnormal", + "continuant", + "absent visual perception", + "sensory perception of light stimulus", + "phenotypic effect", + "multicellular organismal process", + "absent nervous system process", + "specifically dependent continuant", + "absent system process", + "absent multicellular organismal process", + "material entity", + "process", + "system process", + "taxon specific phenotype", + "nervous system process", + "entity", + "occurrent", + "quality", + "phenotype", + "absent sensory perception", + "material anatomical entity phenotype", + "sensory perception", + "pigment cell quality, abnormal" ], - "has_phenotype_count": 2 + "has_phenotype_count": 2, + "type": ["SO:0001217"] }, "score": 5.262083911717577, "similarity": { @@ -1359,8 +1306,8 @@ } }, "object_termset": { - "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }, - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" } + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }, + "HP:0002104": { "id": "HP:0002104", "label": "Apnea" } }, "subject_best_matches": { "ZP:0000945": { @@ -1452,8 +1399,8 @@ "HP:0012378": { "match_source": "HP:0012378", "match_source_label": "Fatigue", - "match_target": "ZP:0100294", - "match_target_label": "visual perception absent, abnormal", + "match_target": "ZP:0000945", + "match_target_label": "pigment cell quality, abnormal", "score": 1.6752927740139332, "match_subsumer": null, "match_subsumer_label": null, @@ -1461,7 +1408,7 @@ "subject_id": "HP:0012378", "subject_label": null, "subject_source": null, - "object_id": "ZP:0100294", + "object_id": "ZP:0000945", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0001005", @@ -1470,10 +1417,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 1.6752927740139332, - "jaccard_similarity": 0.4444444444444444, + "jaccard_similarity": 0.42105263157894735, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.8628873427211774 + "phenodigm_score": 0.8398728660718605 }, "score_metric": "ancestor_information_content" } @@ -1500,70 +1447,73 @@ "uri": "https://identifiers.org/zfin/ZDB-GENE-070117-1530", "iri": null, "namespace": "ZFIN", - "has_phenotype": ["ZP:0001841", "ZP:0015039"], + "has_phenotype": ["ZP:0015039", "ZP:0001841"], "has_phenotype_label": [ - "visual behavior quality, abnormal", - "visual behavior absent, abnormal" + "visual behavior absent, abnormal", + "visual behavior quality, abnormal" ], "has_phenotype_closure": [ - "GO:0009628", + "ZP:0000000", + "ZP:0001841", "ZP:0015039", - "UPHENO:0034024", "GO:0007632", - "BFO:0000015", - "UPHENO:0078496", + "UPHENO:0001002", + "UPHENO:0001003", + "GO:0009416", + "UPHENO:0034009", "GO:0050896", "BFO:0000002", - "UPHENO:0001005", - "GO:0009416", - "UPHENO:0001003", - "ZP:00000000", - "UPHENO:0001002", + "UPHENO:0034024", "GO:0009314", "UPHENO:0001001", "BFO:0000020", - "GO:0008150", - "ZP:0131284", - "GO:0007610", - "UPHENO:0034056", - "PATO:0000001", - "BFO:0000001", - "ZP:0001841", + "UPHENO:0078496", + "BFO:0000015", "GO:0032501", "ZP:0005465", + "UPHENO:0034012", + "PATO:0000001", + "BFO:0000001", + "UPHENO:0034056", + "GO:0007610", + "ZP:0131284", + "GO:0008150", + "ZP:0001669", "BFO:0000003", - "ZP:0001669" + "GO:0009628" ], "has_phenotype_closure_label": [ - "response to light stimulus", "response to abiotic stimulus", + "response to light stimulus quality, abnormal", + "visual behavior quality, abnormal", + "phenotype", + "occurrent", "behavior", "response to stimulus", - "process", - "absent biological_process", - "occurrent", "absent behavior", + "absent response to stimulus", + "behavior quality, abnormal", + "entity", + "taxon specific phenotype", "response to radiation", "visual behavior", + "specifically dependent continuant", "absent visual behavior", + "phenotypic effect", "visual behavior absent, abnormal", - "specifically dependent continuant", - "entity", + "absent multicellular organismal process", + "process", + "response to light stimulus", + "biological_process quality, abnormal", + "Zebrafish Phenotype", "quality", - "response to light stimulus quality, abnormal", - "Phenotypic abnormality", - "multicellular organismal process", - "biological_process", + "absent biological_process", "continuant", - "Zebrafish Phenotype", - "biological_process quality, abnormal", - "phenotype", - "visual behavior quality, abnormal", - "phenotype by ontology source", - "abnormal phenotype by ontology source", - "behavior quality, abnormal" + "multicellular organismal process", + "biological_process" ], - "has_phenotype_count": 2 + "has_phenotype_count": 2, + "type": ["SO:0001217"] }, "score": 5.232933902289122, "similarity": { @@ -1585,8 +1535,8 @@ "ZP:0001841": { "match_source": "ZP:0001841", "match_source_label": "visual behavior quality, abnormal", - "match_target": "HP:0002104", - "match_target_label": "Apnea", + "match_target": "HP:0012378", + "match_target_label": "Fatigue", "score": 1.6752927740139332, "match_subsumer": null, "match_subsumer_label": null, @@ -1594,7 +1544,7 @@ "subject_id": "ZP:0001841", "subject_label": null, "subject_source": null, - "object_id": "HP:0002104", + "object_id": "HP:0012378", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0001005", @@ -1603,10 +1553,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 1.6752927740139332, - "jaccard_similarity": 0.2962962962962963, + "jaccard_similarity": 0.47058823529411764, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.7045445650576523 + "phenodigm_score": 0.8879037504843663 }, "score_metric": "ancestor_information_content" }, @@ -1728,199 +1678,143 @@ "has_phenotype": ["ZP:0005756"], "has_phenotype_label": ["pharyngeal arch non-functional, abnormal"], "has_phenotype_closure": [ - "UBERON:0000475", - "UPHENO:0075696", + "UBERON:0013522", + "UBERON:0034944", "UBERON:0008814", "UBERON:0000922", - "UBERON:0000025", - "UPHENO:0086128", - "UBERON:0008816", + "UBERON:0010188", + "UBERON:0010000", + "UBERON:0010314", + "ZP:0000000", + "UBERON:0004111", + "BFO:0000002", + "UPHENO:0002553", "NCBITaxon:6072", - "UPHENO:0002332", - "UPHENO:0002833", "ZP:0107569", - "NCBITaxon:2743709", - "NCBITaxon:186625", - "UPHENO:0001005", - "NCBITaxon:32519", - "NCBITaxon:186634", - "OBI:0100026", - "BFO:0000020", - "NCBITaxon:186626", - "NCBITaxon:7954", - "UBERON:0000033", - "UBERON:0010000", - "ZP:0000598", - "NCBITaxon:30727", - "BFO:0000004", - "UPHENO:0002844", - "NCBITaxon:33208", - "UBERON:0000465", - "UPHENO:0082875", - "NCBITaxon:7742", - "UBERON:0013701", - "UBERON:0000062", - "UBERON:0001555", - "UBERON:0002539", - "NCBITaxon:2759", "UBERON:0000467", "UBERON:0001062", - "NCBITaxon:7776", - "UBERON:0013522", - "ZP:0000395", - "UBERON:0001007", + "NCBITaxon:2759", + "UBERON:0000061", + "UBERON:0011676", + "UBERON:0002539", + "UBERON:0000062", + "UBERON:0001555", + "UBERON:0013701", + "UBERON:0001041", "ZP:0005756", "UPHENO:0001001", "UBERON:0000481", - "ZFA:0000037", - "UBERON:0005423", - "ZP:0107311", - "UBERON:0000064", - "UBERON:0010314", - "ZFA:0100000", - "ZP:0107307", - "UBERON:0000061", - "UPHENO:0002764", - "UBERON:0011676", - "NCBITaxon:7952", - "UBERON:0013702", + "UPHENO:0003488", + "OBI:0100026", + "BFO:0000001", + "UPHENO:0002530", "NCBITaxon:1", - "ZP:0100009", "ZP:0107301", - "UBERON:0007811", - "NCBITaxon:33511", - "ZP:00000000", - "NCBITaxon:41665", - "UPHENO:0001003", - "NCBITaxon:32443", - "NCBITaxon:33213", - "UBERON:0004111", + "UBERON:0008816", "UBERON:0000468", - "NCBITaxon:117571", - "ZFA:0001094", - "UBERON:0010188", + "UBERON:0000475", + "UBERON:0034921", + "ZP:0107311", + "UBERON:0005423", + "UPHENO:0002531", + "BFO:0000020", "PATO:0000001", "UBERON:0004921", - "UBERON:0034944", - "ZFA:0001114", "UPHENO:0001002", - "BFO:0000001", - "NCBITaxon:2743711", - "BFO:0000040", - "NCBITaxon:33154", - "UBERON:0000153", - "ZFA:0001308", - "ZFA:0001488", - "UBERON:0001041", - "NCBITaxon:186627", - "NCBITaxon:117570", - "NCBITaxon:7898", - "BFO:0000002", - "ZP:0107344", + "ZP:0107307", + "UPHENO:0002525", "UBERON:0009145", "NCBITaxon:131567", - "NCBITaxon:7711", - "UBERON:0034921", - "NCBITaxon:1489341", + "UBERON:0000025", + "UPHENO:0003021", + "UPHENO:0002568", + "BFO:0000004", + "BFO:0000040", + "UBERON:0000153", + "NCBITaxon:33154", + "NCBITaxon:33208", + "UBERON:0000465", + "UBERON:0013702", "UPHENO:0002536", - "ZFA:0001306", - "NCBITaxon:89593", - "NCBITaxon:186623" + "UBERON:0007811", + "UPHENO:0002902", + "UPHENO:0001003", + "UPHENO:0003446", + "UBERON:0000064", + "UBERON:0000033", + "UBERON:0001007", + "ZP:0000395" ], "has_phenotype_closure_label": [ - "Bilateria", - "whole organism", + "pharyngeal arch", + "subdivision of tube", + "zone of organ", + "pharyngeal arch system", + "phenotypic effect", + "pharyngeal arch phenotype", "anatomical entity", - "abnormal phenotype by ontology source", - "Cypriniformes", - "Danioninae", - "Eumetazoa", - "zebrafish anatomical entity", "multi-tissue structure quality, abnormal", - "Danio", - "Otophysi", - "pharyngeal arch system", + "phenotype", + "embryo", + "taxon specific phenotype", + "multi organ part structure", + "pharyngeal arch physical object quality, abnormal", + "quality", + "root", + "independent continuant", + "zebrafish anatomical entity quality, abnormal", + "entity", + "specifically dependent continuant", + "subdivision of digestive tract", + "anatomical conduit", + "anatomical structure quality, abnormal", + "material anatomical entity phenotype", + "material anatomical entity", + "Zebrafish Phenotype", "Eukaryota", - "phenotype by ontology source", - "abnormal digestive system", - "pharyngeal arch quality, abnormal", - "Otomorpha", + "anterior region of body", + "anatomical structure", "protuberance", - "structure with developmental contribution from neural crest", - "whole organism quality, abnormal", - "embryonic head", "organism subdivision", + "embryonic head", + "pharyngeal region of foregut", + "head", "multicellular organism", - "subdivision of digestive tract", - "anatomical conduit", - "specifically dependent continuant", - "anatomical structure", - "subdivision of tube", - "Vertebrata ", - "Euteleostomi", - "abnormal anatomical entity", - "Ostariophysi", - "organ part", - "zone of organ", - "pharyngeal arch physical object quality, abnormal", - "entity", + "multi-tissue structure phenotype", + "developing anatomical structure", + "Eumetazoa", + "structure with developmental contribution from neural crest phenotype", + "Opisthokonta", + "cellular organisms", + "pharyngeal arch non-functional, abnormal", + "organ part phenotype", "body proper", - "digestive system", + "foregut", + "craniocervical region", + "pharyngeal arch quality, abnormal", + "Metazoa", + "multi-tissue structure", + "tube", + "zone of organ phenotype", + "continuant", + "anatomical structure phenotype", "anatomical system", "organ", "organism", - "multi organ part structure", - "Phenotypic abnormality", - "material anatomical entity", - "Zebrafish Phenotype", - "root", - "quality", - "phenotype", - "Gnathostomata ", - "tube", - "multi-tissue structure", - "Clupeocephala", - "Metazoa", - "anterior region of body", - "Teleostomi", - "material entity", - "abnormal craniocervical region", - "subdivision of organism along main body axis", - "Neopterygii", - "Craniata ", - "Cypriniphysae", - "main body axis", - "Actinopteri", - "non-functional anatomical entity", + "digestive system", + "multicellular anatomical structure phenotype", + "structure with developmental contribution from neural crest", "multicellular anatomical structure", - "Cyprinoidei", - "craniocervical region", - "foregut", - "independent continuant", - "zebrafish anatomical entity quality, abnormal", - "Danionidae", - "anatomical structure quality, abnormal", - "abnormality of anatomical entity physiology", + "protuberance phenotype", + "anatomical entity phenotype", "digestive tract", - "embryo", - "Actinopterygii", - "Teleostei", - "Osteoglossocephalai", - "continuant", - "Chordata", - "pharyngeal arch", - "abnormal head", - "Deuterostomia", - "Opisthokonta", - "cellular organisms", - "organism subdivision quality, abnormal", - "pharyngeal arch non-functional, abnormal", - "head", - "pharyngeal region of foregut", - "developing anatomical structure", - "head quality, abnormal" + "material entity", + "organ part", + "subdivision of organism along main body axis", + "main body axis" ], - "has_phenotype_count": 1 + "has_phenotype_count": 1, + "type": ["SO:0001217"] }, "score": 4.268159247237522, "similarity": { @@ -2054,125 +1948,61 @@ "has_phenotype": ["ZP:0001432"], "has_phenotype_label": ["whole organism morphology, abnormal"], "has_phenotype_closure": [ - "NCBITaxon:2743709", - "NCBITaxon:30727", - "UPHENO:0075696", - "NCBITaxon:6072", - "NCBITaxon:186625", + "ZP:0107311", + "ZP:0000000", + "ZP:0001432", + "BFO:0000040", "ZP:0013613", - "UPHENO:0020584", - "BFO:0000001", - "BFO:0000020", - "NCBITaxon:186627", - "NCBITaxon:186626", - "UBERON:0010000", - "NCBITaxon:186623", - "NCBITaxon:7898", - "UPHENO:0001001", - "NCBITaxon:1489341", - "NCBITaxon:131567", - "BFO:0000004", - "NCBITaxon:186634", - "UPHENO:0002536", - "NCBITaxon:2743711", - "NCBITaxon:7711", "ZP:0100009", - "NCBITaxon:33511", - "UBERON:0000468", - "NCBITaxon:33208", "UPHENO:0001002", - "NCBITaxon:7954", - "ZP:00000000", + "UPHENO:0002536", + "UPHENO:0002530", + "UBERON:0001062", + "UPHENO:0001001", + "UBERON:0000468", "UPHENO:0001003", + "UPHENO:0002949", + "BFO:0000020", + "ZP:0107301", + "UPHENO:0002568", + "UBERON:0010000", + "BFO:0000004", "BFO:0000002", "UBERON:0000061", - "ZFA:0100000", - "NCBITaxon:7776", - "ZP:0107311", - "NCBITaxon:32443", - "NCBITaxon:7952", - "ZP:0001432", - "UBERON:0000465", - "NCBITaxon:33154", - "NCBITaxon:33213", - "NCBITaxon:1", - "ZP:0107301", - "OBI:0100026", - "ZFA:0000037", - "NCBITaxon:117570", - "UPHENO:0001005", - "NCBITaxon:117571", - "ZFA:0001094", + "UPHENO:0002525", "PATO:0000001", - "UPHENO:0076692", - "NCBITaxon:7742", - "UPHENO:0015280", - "NCBITaxon:41665", - "NCBITaxon:32519", - "BFO:0000040", - "NCBITaxon:89593", - "NCBITaxon:2759", - "UBERON:0001062" + "BFO:0000001", + "UBERON:0000465" ], "has_phenotype_closure_label": [ - "Bilateria", + "phenotype", "material entity", - "anatomical entity", - "Deuterostomia", - "zebrafish anatomical entity", - "Otophysi", - "Eukaryota", - "whole organism quality, abnormal", - "independent continuant", - "Actinopteri", - "Neopterygii", - "whole organism physical object quality, abnormal", - "Teleostomi", - "multicellular organism", - "Opisthokonta", - "continuant", - "Osteoglossocephalai", - "abnormal anatomical entity morphology in the independent continuant", - "Euteleostomi", - "Ostariophysi", - "Actinopterygii", - "Vertebrata ", - "abnormal anatomical entity morphology", - "Craniata ", - "Eumetazoa", - "phenotype by ontology source", - "Chordata", - "whole organism", - "Cypriniformes", - "Danioninae", - "Teleostei", - "anatomical structure", - "root", - "whole organism morphology, abnormal", - "zebrafish anatomical entity quality, abnormal", - "entity", - "Cypriniphysae", - "cellular organisms", - "specifically dependent continuant", - "anatomical structure quality, abnormal", - "abnormal anatomical entity", "multicellular anatomical structure", - "Cyprinoidei", - "Danio", - "Danionidae", "material anatomical entity", - "phenotype", - "Otomorpha", + "entity", + "whole organism physical object quality, abnormal", + "zebrafish anatomical entity quality, abnormal", + "whole organism morphology, abnormal", + "taxon specific phenotype", + "multicellular anatomical structure phenotype", "quality", - "Gnathostomata ", - "Metazoa", - "abnormal phenotype by ontology source", - "Clupeocephala", - "Zebrafish Phenotype", - "Phenotypic abnormality", - "organism" + "anatomical entity", + "material anatomical entity phenotype", + "anatomical structure quality, abnormal", + "anatomical structure phenotype", + "anatomical entity phenotype", + "specifically dependent continuant", + "phenotypic effect", + "multicellular organism", + "independent continuant", + "multicellular organism phenotype", + "anatomical structure", + "continuant", + "whole organism quality, abnormal", + "Zebrafish Phenotype" ], - "has_phenotype_count": 1 + "has_phenotype_count": 1, + "type": ["SO:0001217"] }, "score": 2.1215912275582607, "similarity": { @@ -2183,8 +2013,8 @@ } }, "object_termset": { - "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }, - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" } + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }, + "HP:0002104": { "id": "HP:0002104", "label": "Apnea" } }, "subject_best_matches": { "ZP:0001432": { @@ -2306,125 +2136,61 @@ "has_phenotype": ["ZP:0001432"], "has_phenotype_label": ["whole organism morphology, abnormal"], "has_phenotype_closure": [ - "NCBITaxon:2743709", - "NCBITaxon:30727", - "UPHENO:0075696", - "NCBITaxon:6072", - "NCBITaxon:186625", + "ZP:0107311", + "ZP:0000000", + "ZP:0001432", + "BFO:0000040", "ZP:0013613", - "UPHENO:0020584", - "BFO:0000001", - "BFO:0000020", - "NCBITaxon:186627", - "NCBITaxon:186626", - "UBERON:0010000", - "NCBITaxon:186623", - "NCBITaxon:7898", - "UPHENO:0001001", - "NCBITaxon:1489341", - "NCBITaxon:131567", - "BFO:0000004", - "NCBITaxon:186634", - "UPHENO:0002536", - "NCBITaxon:2743711", - "NCBITaxon:7711", "ZP:0100009", - "NCBITaxon:33511", - "UBERON:0000468", - "NCBITaxon:33208", "UPHENO:0001002", - "NCBITaxon:7954", - "ZP:00000000", + "UPHENO:0002536", + "UPHENO:0002530", + "UBERON:0001062", + "UPHENO:0001001", + "UBERON:0000468", "UPHENO:0001003", + "UPHENO:0002949", + "BFO:0000020", + "ZP:0107301", + "UPHENO:0002568", + "UBERON:0010000", + "BFO:0000004", "BFO:0000002", "UBERON:0000061", - "ZFA:0100000", - "NCBITaxon:7776", - "ZP:0107311", - "NCBITaxon:32443", - "NCBITaxon:7952", - "ZP:0001432", - "UBERON:0000465", - "NCBITaxon:33154", - "NCBITaxon:33213", - "NCBITaxon:1", - "ZP:0107301", - "OBI:0100026", - "ZFA:0000037", - "NCBITaxon:117570", - "UPHENO:0001005", - "NCBITaxon:117571", - "ZFA:0001094", + "UPHENO:0002525", "PATO:0000001", - "UPHENO:0076692", - "NCBITaxon:7742", - "UPHENO:0015280", - "NCBITaxon:41665", - "NCBITaxon:32519", - "BFO:0000040", - "NCBITaxon:89593", - "NCBITaxon:2759", - "UBERON:0001062" + "BFO:0000001", + "UBERON:0000465" ], "has_phenotype_closure_label": [ - "Bilateria", + "phenotype", "material entity", - "anatomical entity", - "Deuterostomia", - "zebrafish anatomical entity", - "Otophysi", - "Eukaryota", - "whole organism quality, abnormal", - "independent continuant", - "Actinopteri", - "Neopterygii", - "whole organism physical object quality, abnormal", - "Teleostomi", - "multicellular organism", - "Opisthokonta", - "continuant", - "Osteoglossocephalai", - "abnormal anatomical entity morphology in the independent continuant", - "Euteleostomi", - "Ostariophysi", - "Actinopterygii", - "Vertebrata ", - "abnormal anatomical entity morphology", - "Craniata ", - "Eumetazoa", - "phenotype by ontology source", - "Chordata", - "whole organism", - "Cypriniformes", - "Danioninae", - "Teleostei", - "anatomical structure", - "root", - "whole organism morphology, abnormal", - "zebrafish anatomical entity quality, abnormal", - "entity", - "Cypriniphysae", - "cellular organisms", - "specifically dependent continuant", - "anatomical structure quality, abnormal", - "abnormal anatomical entity", "multicellular anatomical structure", - "Cyprinoidei", - "Danio", - "Danionidae", "material anatomical entity", - "phenotype", - "Otomorpha", + "entity", + "whole organism physical object quality, abnormal", + "zebrafish anatomical entity quality, abnormal", + "whole organism morphology, abnormal", + "taxon specific phenotype", + "multicellular anatomical structure phenotype", "quality", - "Gnathostomata ", - "Metazoa", - "abnormal phenotype by ontology source", - "Clupeocephala", - "Zebrafish Phenotype", - "Phenotypic abnormality", - "organism" + "anatomical entity", + "material anatomical entity phenotype", + "anatomical structure quality, abnormal", + "anatomical structure phenotype", + "anatomical entity phenotype", + "specifically dependent continuant", + "phenotypic effect", + "multicellular organism", + "independent continuant", + "multicellular organism phenotype", + "anatomical structure", + "continuant", + "whole organism quality, abnormal", + "Zebrafish Phenotype" ], - "has_phenotype_count": 1 + "has_phenotype_count": 1, + "type": ["SO:0001217"] }, "score": 2.1215912275582607, "similarity": { diff --git a/frontend/fixtures/search.json b/frontend/fixtures/search.json index 43bb51fe1..9d99f7441 100644 --- a/frontend/fixtures/search.json +++ b/frontend/fixtures/search.json @@ -1,7 +1,7 @@ { "limit": 20, "offset": 0, - "total": 118, + "total": 122, "items": [ { "id": "MONDO:0019391", @@ -14,6 +14,7 @@ "DOID:13636", "GARD:6425", "ICD9:284.09", + "MEDGEN:41967", "MESH:D005199", "MedDRA:10055206", "NANDO:1200303", @@ -44,43 +45,34 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0010469", - "HP:0000377", + "HP:0000047", "HP:0002575", "HP:0000483", "HP:0000238", "HP:0001249", + "HP:0001000", "HP:0100587", "HP:0100026", "HP:0040071", - "HP:0012639", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0002245", - "HP:0002023", - "HP:0001824", - "HP:0001646", "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000453", - "HP:0000047", - "HP:0007874", - "HP:0002650", "HP:0000252", - "HP:0001882", - "HP:0001510", - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0002863", "HP:0100867", "HP:0100760", "HP:0100542", + "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", @@ -94,17 +86,23 @@ "HP:0002827", "HP:0002823", "HP:0002251", + "HP:0002245", + "HP:0002023", "HP:0002007", + "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", + "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", + "HP:0001510", "HP:0001347", "HP:0001199", "HP:0000813", @@ -116,6 +114,7 @@ "HP:0000492", "HP:0000486", "HP:0000478", + "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -134,7 +133,9 @@ "HP:0000010", "HP:0012745", "HP:0012210", + "HP:0007874", "HP:0002664", + "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -145,50 +146,41 @@ "HP:0003220", "HP:0002817", "HP:0001903", + "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", - "HP:0001053", - "HP:0001000" + "HP:0001053" ], "has_phenotype_label": [ - "Absent testis", - "Abnormal pinna morphology", + "Hypospadias", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", "Intellectual disability", + "Abnormality of skin pigmentation", "Abnormal preputium morphology", "Arteriovenous malformation", "Abnormal morphology of ulna", - "Abnormal nervous system morphology", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Meckel diverticulum", - "Anal atresia", - "Weight loss", - "Abnormal aortic valve morphology", "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", "Microcephaly", - "Leukopenia", - "Growth delay", - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", - "Oligohydramnios", + "Myelodysplasia", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", + "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", @@ -200,19 +192,25 @@ "Clinodactyly of the 5th finger", "Hypoplasia of the ulna", "Hip dislocation", - "Abnormality of femur morphology", + "Abnormal femur morphology", "Aganglionic megacolon", + "Meckel diverticulum", + "Anal atresia", "Frontal bossing", + "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", + "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", + "Growth delay", "Hyperreflexia", "Triphalangeal thumb", "Bicornuate uterus", @@ -224,6 +222,7 @@ "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", + "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -242,7 +241,9 @@ "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", + "Almond-shaped palpebral fissure", "Neoplasm", + "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -253,3170 +254,3806 @@ "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", + "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", - "Hypopigmented skin patches", - "Abnormality of skin pigmentation" + "Hypopigmented skin patches" ], "has_phenotype_closure": [ "HP:0001010", - "UPHENO:0084987", - "UPHENO:0085070", "HP:0001873", - "UPHENO:0086173", - "CL:0000458", - "UPHENO:0085189", - "UPHENO:0086049", - "CL:0000233", + "UPHENO:0080010", "CL:0000457", + "UPHENO:0077373", + "CL:0000233", + "CL:0000458", "UPHENO:0085344", "HP:0011875", - "HP:0001939", + "UPHENO:0086173", + "HP:0011893", + "CL:0000738", + "UPHENO:0088166", + "UPHENO:0035160", + "UPHENO:0088319", + "UPHENO:0076675", + "UBERON:0000179", + "CL:0000255", + "CL:0000219", + "UBERON:0000178", + "UPHENO:0077348", + "UPHENO:0085410", + "UPHENO:0049904", "GO:0008152", "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0048871", - "UPHENO:0088162", - "UPHENO:0088170", - "CL:0000329", "HP:0010972", - "HP:0020047", - "CL:0000764", - "HP:0005522", - "HP:0001877", - "HP:0025461", - "UPHENO:0084928", - "GO:0030218", + "GO:0030099", + "GO:0030097", + "CL:0000988", + "GO:0048872", + "GO:0042592", "GO:0002376", "GO:0009987", - "GO:0042592", - "GO:0048869", + "HP:0001877", "CL:0000232", - "GO:0048872", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", - "HP:0002818", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "UPHENO:0088170", + "CL:0000764", + "CL:0001035", + "GO:0030218", + "UPHENO:0088162", + "HP:0025461", "UBERON:0015001", "UPHENO:0080187", - "HP:0012745", + "HP:0002650", + "HP:0200005", + "UPHENO:0041462", + "UPHENO:0069119", + "UPHENO:0046755", "UPHENO:0075198", + "UPHENO:0069562", "HP:0000010", "UPHENO:0002263", + "UPHENO:0002948", + "UPHENO:0053561", + "CL:0000329", + "UPHENO:0053632", + "UPHENO:0002940", + "UPHENO:0053647", "UPHENO:0053644", + "UPHENO:0053572", "HP:0000028", + "UPHENO:0053559", + "UBERON:0000056", + "UPHENO:0002636", "UBERON:0036295", + "HP:0000072", "UBERON:0006555", - "UPHENO:0002806", + "UPHENO:0003101", "HP:0025633", - "UBERON:0000056", - "UPHENO:0086132", + "UPHENO:0002859", + "UPHENO:0002426", + "UPHENO:0002377", + "UPHENO:0002427", "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", - "HP:0000083", + "UPHENO:0002422", "HP:0000135", + "UPHENO:0003056", + "UPHENO:0002381", + "UPHENO:0066972", + "UPHENO:0066945", + "UPHENO:0033589", + "UPHENO:0002806", + "UPHENO:0033612", "HP:5201015", - "UPHENO:0034110", - "UPHENO:0063513", + "UPHENO:0077399", + "UPHENO:0001392", + "HP:0000218", + "UPHENO:0063518", + "UPHENO:0063524", "UPHENO:0081423", + "UPHENO:0063529", + "UPHENO:0063519", "HP:0000268", - "UPHENO:0001208", "UPHENO:0072402", - "UBERON:0001084", + "UPHENO:0072332", "UPHENO:0087058", - "UBERON:0013766", - "UPHENO:0087928", "UBERON:1000021", + "UPHENO:0087928", + "UPHENO:0072266", + "UBERON:0013766", + "UPHENO:0072293", + "UBERON:0001084", "UPHENO:0084734", "HP:0001999", "HP:0000324", - "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0076704", + "UPHENO:0041151", "UPHENO:0041083", - "UPHENO:0081786", - "UBERON:0004768", - "HP:0004322", - "HP:0030791", - "HP:0000277", - "UPHENO:0083646", - "UPHENO:0081314", - "UPHENO:0084457", + "HP:0000347", "HP:0000286", "HP:0009118", - "UPHENO:0088116", + "UPHENO:0081314", "CL:0000081", "UBERON:0012360", + "UPHENO:0002732", + "UBERON:0001710", + "UPHENO:0076780", + "UPHENO:0002815", + "HP:0011873", + "UPHENO:0081788", + "UPHENO:0088116", + 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"UPHENO:0002828", - "UBERON:0007375", + "UBERON:0002544", + "UPHENO:0076695", + "UBERON:0000060", + "UPHENO:0087585", + "UBERON:0011159", + "UPHENO:0079872", + "UBERON:0000982", + "UPHENO:0002807", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", "UBERON:0012240", "UBERON:0001734", "UBERON:0005944", "UBERON:0000079", "UBERON:0001716", + "UBERON:0000949", + "UBERON:0001733", + "UPHENO:0087806", + "UPHENO:0002828", + "UPHENO:0003095", + "UBERON:0034768", "UBERON:0002553", - "UPHENO:0076786", - "UBERON:0001703", - "UPHENO:0078215", + "HP:0010293", "UBERON:0004089", - "UPHENO:0088088", - "UBERON:0034768", - "HP:0031816", + "UPHENO:0063514", + "UPHENO:0081570", + "UPHENO:0076781", + "UPHENO:0004476", "UPHENO:0075843", "HP:0000172", - "UPHENO:0081570", + "UBERON:0007375", + "HP:0031816", "HP:0008678", "HP:0012372", "UBERON:0005179", - "UPHENO:0021670", + "HP:0010674", + "HP:0001217", + "UPHENO:0071332", + "UBERON:0001766", + "HP:0001155", + "UBERON:0003101", + "UPHENO:0080201", "HP:0000553", - "UPHENO:0041664", - "UPHENO:0086817", + "GO:0009605", + "UBERON:0004088", + "UPHENO:0088049", + "UBERON:0001464", + "UPHENO:0005231", + "UPHENO:0063794", "UBERON:0000063", + "UPHENO:0001147", "UBERON:0007273", "HP:0008056", - "UBERON:0001272", "GO:0005623", "UBERON:0006311", - "UBERON:0011892", - "UPHENO:0088183", - "UBERON:0004121", - "HP:0000525", - "UBERON:5002544", - "UBERON:0001769", - "HP:0008062", - "UPHENO:0081313", - "UPHENO:0082356", - "UBERON:0001766", - "GO:0009605", - "UBERON:0004088", - "UPHENO:0088049", "UPHENO:0071334", "UPHENO:0080209", - "UPHENO:0079826", - "UPHENO:0072814", + "UBERON:5002544", + "UBERON:0001769", "HP:0000593", + "UBERON:5002389", + "BFO:0000040", + "UPHENO:0071317", + "HP:0034261", + "UPHENO:0076692", + "UPHENO:0046445", + "HP:0008053", + "UPHENO:0054957", + "UPHENO:0074575", + "CL:0000225", + "UPHENO:0054970", "UBERON:0001359", "UPHENO:0074584", "UBERON:0000167", "UBERON:0001442", "HP:0001034", - "CL:0000225", - "UPHENO:0054970", - "UPHENO:0080221", - "UPHENO:0022529", - "HP:0008053", - "UPHENO:0054957", - "UPHENO:0078736", - "HP:0031105", - "UBERON:0002416", - "HP:0000309", - "UPHENO:0082682", - "HP:0012210", - "UPHENO:0059829", - "UPHENO:0074575", - "UPHENO:0080601", - "UPHENO:0086172", - "UPHENO:0074589", - "UPHENO:0084511", - "UPHENO:0066927", - "UBERON:0010000", - "UBERON:0010230", - "HP:0011121", + "UPHENO:0085371", + "UPHENO:0076723", "UBERON:0002384", "UBERON:0012141", - "UBERON:0003101", - "UPHENO:0080201", - "HP:0001155", + "UBERON:0005451", + "UPHENO:0084653", + "HP:0005922", + "UBERON:0002355", + "HP:0006265", + "UPHENO:0046487", "UPHENO:0049940", "UPHENO:0084761", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0085371", - "UPHENO:0076723", - "HP:0045060", - "CL:0000151", - "HP:0001510", - "HP:0001167", + "HP:0000483", + "UPHENO:0001360", + "UPHENO:0003799", "HP:0008373", "HP:0005927", - "UPHENO:0084766", - "UPHENO:0084653", - "UBERON:0005451", - "HP:0005922", - "UPHENO:0082671", + "HP:0045060", + "UPHENO:0076760", + "UPHENO:0084448", + "GO:0007275", + "UPHENO:0078288", + "HP:0001159", "UPHENO:0078179", - "UPHENO:0082835", - "HP:0011849", - "HP:0010469", - "UBERON:0008202", + "UPHENO:0053330", "UPHENO:0082834", "HP:0004209", - "UPHENO:0087203", "UBERON:0002412", "GO:0001503", - "HP:0009179", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", + "HP:0011849", + "UPHENO:0082835", "UPHENO:0076736", - "HP:0000377", - "HP:0004097", + "UBERON:5003625", + "UPHENO:0001031", "HP:0011446", "HP:0030084", + "HP:0000377", + "HP:0004097", + "HP:0001770", + "UPHENO:0086143", "UBERON:0012357", "UPHENO:0084842", "HP:0009824", - "UBERON:5003625", - "UPHENO:0080369", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UBERON:0002094", + "UPHENO:0046552", + "UPHENO:0068839", + "HP:0000478", + "UPHENO:0046554", + "UPHENO:0076804", + "UPHENO:0046505", + "HP:0001763", + "UPHENO:0068921", + "UPHENO:0087612", + "UPHENO:0046594", + "HP:0410014", + "UPHENO:0069292", + "UPHENO:0081581", "UPHENO:0012274", - "UPHENO:0012541", - "UPHENO:0081790", + "CL:0002092", + "UPHENO:0046484", + "HP:0000568", + "UPHENO:0069064", + "UPHENO:0069125", + "UPHENO:0087892", + "UPHENO:0001001", + "UPHENO:0012440", + "UPHENO:0002987", + "UPHENO:0002866", + "UPHENO:0069030", + "UPHENO:0046483", + "UBERON:0001005", + "UPHENO:0046472", + "UBERON:0003126", + "UPHENO:0002967", + "UPHENO:0068838", "UBERON:0012180", + "UPHENO:0063588", "UPHENO:0068971", - "UPHENO:0053580", - "HP:0040019", - "UPHENO:0069293", - "HP:0200007", - "HP:0009821", - "UBERON:0001464", - "UPHENO:0087602", - "UBERON:0001271", - "UBERON:0010425", - "UBERON:0007823", - "UPHENO:0087974", - "UBERON:0004770", + "UPHENO:0046397", + "UPHENO:0012312", + "UPHENO:0002902", + "UPHENO:0076754", + "UPHENO:0069194", + "UPHENO:0003015", + "UBERON:0003828", "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0005913", - "UBERON:0000982", - "HP:0002644", + "UBERON:0003463", + "UPHENO:0066905", + "UBERON:0003840", "HP:0000504", "UPHENO:0002813", + "UPHENO:0046465", "UPHENO:0087980", - "UBERON:0001457", - "UBERON:0008907", - "UPHENO:0079871", - "UBERON:0003463", - "UPHENO:0060026", + "UBERON:0011595", + "UPHENO:0081598", + "UPHENO:0081608", + "UPHENO:0003021", "HP:0001367", - "UBERON:0003828", - "UPHENO:0075945", - "UPHENO:0001001", - "UPHENO:0087892", - "UBERON:0008114", - "UBERON:0007828", - "UBERON:0003840", - "HP:0000271", - "UBERON:0005893", - "UBERON:5002389", - "UPHENO:0087558", - "UBERON:0001712", - "UBERON:0001950", - "UBERON:0003826", - "HP:0012331" + "UBERON:0007832" ], "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation in independent continuant", "decreased biological_process in multicellular organism", - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "decreased qualitatively biological_process in independent continuant", "Hypopigmentation of the skin", + "Abnormal platelet morphology", "Thrombocytopenia", "Abnormal platelet count", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of platelet", - "abnormal platelet", + "decreased number of platelet", + "number of platelet phenotype", + "serotonin secreting cell", "anucleate cell", - "secretory cell", - "abnormal blood cell", - "obsolete cell", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "Abnormal cellular immune system morphology", + "decreased number of hematopoietic cell", + "leukocyte", + "decreased number of anatomical structure in the multicellular organism", + "decreased number of leukocyte in the blood", + "decreased number of anatomical structure", + "Leukopenia", + "nucleate cell", + "motile cell", + "decreased number of anatomical entity in the blood", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "Abnormality of body height", + "decreased height of the multicellular organism", "decreased size of the multicellular organism", - "serotonin secreting cell", - "abnormal size of multicellular organism", + "size of multicellular organism phenotype", + "cellular developmental process", + "decreased number of anatomical entity in the multicellular organism", + "blood cell", + "Pyridoxine-responsive sideroblastic anemia", + "Abnormal bone marrow cell morphology", + "Sideroblastic anemia", + "homeostatic process", + "immune system process", + "cellular process", + "erythrocyte differentiation", + "Abnormal erythroid lineage cell morphology", + "cell development", "Abnormal myeloid cell morphology", "Anemia of inadequate production", - "erythrocyte differentiation", - "Sideroblastic anemia", - "myeloid cell differentiation", "hemopoiesis", "erythroid lineage cell", - "abnormal erythroid lineage cell morphology", - "immune system process", - "cellular process", - "homeostatic process", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", - "erythrocyte", - "myeloid cell", - "blood cell", - "erythrocyte homeostasis", "homeostasis of number of cells", - "cellular developmental process", - "Abnormal morphology of the radius", - "abnormal radius bone morphology", + "erythrocyte homeostasis", + "bone cell", "aplasia or hypoplasia of radius bone", - "radius bone", + "Abnormal morphology of the radius", + "radius bone phenotype", + "radius bone morphology phenotype", "Neurodevelopmental delay", + "shape palpebral fissure", + "Abnormal shape of the palpebral fissure", + "decreased size of the anatomical conduit", + "decreased size of the orifice", + "decreased length of ectoderm-derived structure", "decreased length of palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal size of palpebral fissure", - "abnormality of immune system physiology", - "Abnormality of immune system physiology", - "abnormally localised testis", - "abnormally localised anatomical entity in independent continuant", + "decreased size of the palpebral fissure", + "decreased length of orifice", + "decreased length of anatomical conduit", + "immune system physiology phenotype", + "Unusual infection", + "localised male reproductive organ", + "localised organ", "Cryptorchidism", + "localised anatomical structure", "ureter", + "excretory tube phenotype", "Abnormal ureter morphology", "Abnormality of the ureter", - "abnormal ureter morphology", - "Abnormal renal physiology", "Hypopigmented skin patches", "Abnormality of the urinary system physiology", - "abnormally decreased functionality of the gonad", + "cavitated compound organ physiology phenotype", + "abdominal segment element physiology phenotype", + "kidney physiology phenotype", + "Abnormal renal physiology", + "gonad physiology phenotype", + "decreased functionality of the gonad", + "decreased functionality of the reproductive structure", "Cleft palate", + "incomplete closing of the structure with developmental contribution from neural crest", "Craniofacial cleft", - "increased height of anatomical entity in independent continuant", - "increased height of the anatomical entity", + "incomplete closing of the multi-tissue structure", + "increased size of the structure with developmental contribution from neural crest", + "anatomical entity height phenotype", + "increased height of the anatomical structure", "High palate", - "increased size of the head", - "Increased head circumference", - "skin of head", + "increased height of the material anatomical entity", + "increased height of the roof of mouth", + "increased height of the anatomical entity", + "immune system morphology phenotype", + "increased height of the multicellular anatomical structure", + "increased height of the ectoderm-derived structure", + "increased size of the neural crest-derived structure", + "increased height of the multi-tissue structure", + "number of leukocyte phenotype", + "increased length of the ectoderm-derived structure", + "increased length of the organ part", "increased length of the epicanthal fold", "Epicanthus", - "head or neck skin", - "abnormal skin of face morphology", "upper eyelid", + "skin of head morphology phenotype", + "head or neck skin", "skin of face", "zone of skin", - "abnormal asymmetry of anatomical entity", - "abnormal shape of forehead", + "increased size of the zone of organ", + "skin of head", + "asymmetry of anatomical entity phenotype", + "Abnormal leukocyte count", + "Facial asymmetry", + "asymmetry of face phenotype", + "Sloping forehead", + "forehead morphology phenotype", "sloped anatomical entity", - "mandible hypoplasia", - "bone element hypoplasia in face", - "decreased size of the mandible", - "bone of lower jaw", "lower jaw region", - "facial skeleton", - "facial bone", + "dermal bone phenotype", + "increased height of the structure with developmental contribution from neural crest", + "intramembranous bone phenotype", + "bone element hypoplasia in face", + "secretory cell", + "bone of lower jaw phenotype", + "mandible morphology phenotype", "mandible", - "Abnormal mandible morphology", + "dentary phenotype", "facial bone hypoplasia", + "bone of lower jaw", "anatomical entity hypoplasia in face", - "abnormal mandible morphology", - "Hypoplastic facial bones", - "abnormal facial skeleton morphology", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Hearing abnormality", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "mandible hypoplasia", + "sensory perception of sound", "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "abnormal sensory perception of sound", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", + "Hearing abnormality", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased system process", + "Hearing impairment", + "nose phenotype", + "naris", + "olfactory organ", + "compound organ physiology phenotype", + "posterior nasal aperture morphology phenotype", + "naris atresia", + "posterior nasal aperture", "Abnormal conjugate eye movement", "Strabismus", - "abnormal sensory perception", + "visual perception", "sensory perception of light stimulus", + "decreased qualitatively system process", "decreased qualitatively visual perception", - "visual perception", - "abnormal sensory perception of light stimulus", - "abnormally protruding eyeball of camera-type eye", + "sensory perception phenotype", + "decreased qualitatively nervous system process", "Abnormality of globe size", - "cell development", - "abnormal size of eyeball of camera-type eye", - "cranial nerve related reflex", - "Abnormal vestibular function", - "Abnormality of eye movement", - "abnormality of ear physiology", + "sensory perception of light stimulus phenotype", + "size of eyeball of camera-type eye phenotype", + "decreased size of the ectoderm-derived structure", + "internal ear physiology phenotype", "eye movement", - "abnormal eye movement", - "abnormal physiologic nystagmus", - "abnormal vestibulo-ocular reflex", + "vestibulo-ocular reflex phenotype", "Abnormal vestibulo-ocular reflex", - "internal female genitalia", - "abnormal internal female genitalia morphology", + "Abnormality of eye movement", + "multi organ part structure physiology phenotype", + "Abnormal vestibular function", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", "female organism", - "abnormal uterus", - "abnormal female reproductive system", - "bicornuate anatomical entity", - "Abnormality of the female genitalia", - "Abnormality of the uterus", + "internal female genitalia morphology phenotype", + "decreased functionality of the organ", + "oviduct", "uterus", + "bicornuate anatomical entity", "shape uterus", - "oviduct", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", - "abnormal anatomical entity morphology in the skeleton of manus", - "manual digit 1", + "female reproductive organ morphology phenotype", + "Abnormality of the uterus", + "subdivision of oviduct phenotype", + "internal female genitalia", "Abnormal finger phalanx morphology", - "manual digit 1 digitopodial skeleton", - "abnormal manual digit 1 morphology", "Triphalangeal thumb", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", + "manual digitopodium bone", + "digit 1", + "manual digit 1 morphology phenotype", + "decreased sensory perception", + "manual digit bone", + "number of anatomical entities of type anatomical entity in blood phenotype", + "manual digit 1", + "ureter morphology phenotype", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Abnormality of the immune system", + "manual digit phalanx endochondral element", + "facial bone phenotype", + "manual digit 1 digitopodial skeleton", "manus bone", "excretory tube", "manual digit 1 phalanx endochondral element", - "abnormal incomplete closing of the secondary palate", "phalanx of manus", - "abnormal female reproductive system morphology", - "digit 1 digitopodial skeleton", - "skeleton of manual acropodium", - "skeleton of manual digitopodium", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", - "body part movement", + "manual digit 1 plus metapodial segment", "neuromuscular process", - "voluntary musculoskeletal movement", "kinesthetic behavior", - "multicellular organismal movement", - "Abnormality of movement", - "abnormal voluntary musculoskeletal movement", + "voluntary musculoskeletal movement", + "voluntary movement behavior phenotype", + "system process phenotype", + "reflex phenotype", + "increased response to stimulus", "Recurrent urinary tract infections", "involuntary movement behavior", - "Bicornuate uterus", - "abnormal behavior", - "Hyperreflexia", - "increased qualitatively response to stimulus", + "response to external stimulus phenotype", "reflex", - "abnormal response to external stimulus", + "increased qualitatively response to stimulus", + "Global developmental delay", + "reflexive behavior", + "behavior phenotype", + "Hyperreflexia", + "multicellular organismal movement phenotype", "decreased embryo development", - "abnormal embryo development", - "herniated abdominal wall", - "Abnormality of connective tissue", - "Abnormality of the abdominal wall", + "decreased qualitatively multicellular organismal process", + "anatomical structure development phenotype", + "multicellular organismal process phenotype", + "Growth delay", + "decreased qualitatively anatomical structure development", + "decreased qualitatively embryo development", + "delayed growth", + "embryo development rate phenotype", + "embryo development phenotype", + "Abnormality of vision", + "anatomical wall phenotype", "Hernia", - "herniated anatomical entity", - "Hernia of the abdominal wall", - "Abnormal umbilicus morphology", - "umbilicus", + "Abnormality of connective tissue", + "digit 1 digitopodial skeleton", + "tissue phenotype", + "herniated abdominal wall", "connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", - "abnormal cardiac atrium morphology", + "erythrocyte morphology phenotype", + "umbilicus", + "abdominal wall phenotype", + "herniated anatomical entity", + "facial skeleton", + "abdominal viscera", + "incomplete closing of the organ part", + "embryo phenotype", + "organism substance phenotype", + "Renal insufficiency", + "late embryo", + "Abnormality of prenatal development or birth", + "uterus phenotype", + "Oligohydramnios", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "embryonic development/birth phenotype", + "cardiac atrium morphology phenotype", + "metabolic process", + "Abnormal cardiac septum morphology", "interatrial septum", - "abnormal interatrial septum morphology", - "abnormal cardiac atrium morphology in the independent continuant", "Abnormal atrial septum morphology", - "abnormally increased volume of anatomical entity", - "Abnormal ventricular septum morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "hypertrophic cardiac ventricle", "cardiac septum", - "metabolic process", - "Abnormal cardiac septum morphology", - "increased size of the heart right ventricle", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "abnormal pulmonary valve morphology", - "interventricular septum", - "abnormal cardiac septum morphology", - "Abnormal pulmonary valve physiology", - "abnormality of cardiovascular system physiology", - "skin of eyelid", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "hypertrophic heart right ventricle", - "heart layer", - "Abnormal myocardium morphology", + "increased size of the cardiac ventricle", + "incomplete closing of the interventricular septum", + "Abnormality of thumb phalanx", + "increased size of the mesoderm-derived structure", + "cardiac septum morphology phenotype", + "right cardiac chamber phenotype", + "cardiac septum phenotype", + "increased size of the lateral structure", + "size of cardiac ventricle phenotype", + "interventricular septum morphology phenotype", + "heart right ventricle morphology phenotype", + "cardiac ventricle phenotype", + "septum phenotype", + "incomplete closing of the cardiac septum", + "cardiac chamber morphology in the heart phenotype", + "hypertrophic cardiac ventricle", + "cardiac chamber phenotype", + "septum", + "increased size of the cardiac chamber", + "incomplete closing of the septum", + "Intrauterine growth retardation", + "decreased functionality of the multicellular anatomical structure", + "mesoderm-derived structure physiology phenotype", + "anatomical entity dysfunction in independent continuant", + "decreased nervous system process", + "decreased functionality of the organ component layer", + "Abnormality of the abdominal wall", + "organ component layer physiology phenotype", + "heart layer phenotype", + "layer of muscle tissue phenotype", + "Abnormal choanae morphology", "layer of muscle tissue", - "abnormal myocardium morphology", - "abnormal abdominal wall", + "decreased functionality of the material anatomical entity", + "Hypertrophic cardiomyopathy", + "Abnormal myocardium morphology", + "decreased multicellular organism development", + "heart layer", + "decreased functionality of the anatomical entity", + "decreased multicellular organismal process", + "incomplete closing of the trunk blood vessel", + "material anatomical entity morphology in the heart phenotype", + "systemic artery phenotype", + "blood vessel phenotype", + "nervous system process phenotype", + "incomplete closing of the coronary vessel", + "coronary vessel morphology phenotype", + "mesoderm-derived structure morphology in the heart phenotype", + "incomplete closing of the heart blood vessel", + "incomplete closing of the systemic artery", + "incomplete closing of the ductus arteriosus", "embryonic cardiovascular system", - "heart vasculature", - "response to stimulus", - "ductus arteriosus", - "abnormal number of anatomical enitites of type myeloid cell", - "thoracic segment blood vessel", - "coronary vessel", - "abnormal coronary vessel morphology", "aplasia or hypoplasia of mandible", "trunk blood vessel", - "abnormal incomplete closing of the ductus arteriosus", + "trunk blood vessel phenotype", "vasculature of organ", - "abnormal female reproductive organ morphology", - "abnormally decreased functionality of the anatomical entity", "vasculature of trunk", "heart blood vessel", + "vessel phenotype", + "arterial blood vessel phenotype", + "heart vasculature", + "sensory perception of sound phenotype", + "response to stimulus", + "ductus arteriosus", + "incomplete closing of the artery", + "incomplete closing of the thoracic segment blood vessel", + "thoracic segment blood vessel", + "myeloid cell", + "incomplete closing of the blood vessel", + "anatomical entity morphology in the heart phenotype", "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", - "aorta", + "anatomical structure morphology in the heart phenotype", + "hematopoietic cell", + "semi-lunar valve", + "neuromuscular process phenotype", + "heart", + "aortic valve morphology phenotype", + "platelet phenotype", + "Abnormal heart morphology", + "Abnormal heart valve morphology", + "semi-lunar valve morphology phenotype", + "heart morphology phenotype", + "internal ear", + "heart left ventricle", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "cardiac valve", "bone of jaw", "aortic system", + "aortic valve", + "thoracic cavity blood vessel", "great vessel of heart", "Abnormal aortic morphology", - "shape longitudinal arch of pes", - "flattened anatomical entity", + "aorta morphology phenotype", + "decreased functionality of the anatomical structure", + "great vessel of heart morphology phenotype", + "aorta", + "decreased number of material anatomical entity in the multicellular organism", "longitudinal arch of pes", - "flattened anatomical entity in independent continuant", "Pes planus", "flat anatomical entity", - "Toe syndactyly", - "abnormally fused anatomical entity and pedal digit", - "abnormal shape of frontal cortex", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal head bone morphology", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "trunk region element physiology phenotype", + "Toe syndactyly", + "fused anatomical entity and pedal digit", + "incomplete closing of the anatomical wall", + "pedal digit phenotype", + "anatomical entity morphology in the pelvic complex phenotype", + "platelet", + "Growth abnormality", + "multicellular organism mass phenotype", + "growth", + "radius bone", + "growth phenotype", + "Weight loss", + "obsolete cell", + "material anatomical entity mass phenotype", + "Decreased body weight", + "Abnormality of body weight", + "incomplete closing of the arterial blood vessel", + "decreased material anatomical entity mass", + "anatomical structure mass phenotype", + "decreased multicellular anatomical structure mass", + "Abnormal calvaria morphology", + "frontal cortex morphology phenotype", + "neurocranium morphology phenotype", + "olfactory system morphology phenotype", + "cranium morphology phenotype", "Puberty and gonadal disorders", "central nervous system cell part cluster", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", "lobe of cerebral hemisphere", - "cerebral hemisphere", - "manual digit 1 plus metapodial segment", - "abnormal cerebral hemisphere morphology", - "vault of skull", - "female reproductive system", - "dermal skeleton", + "shape of frontal cortex phenotype", "primary subdivision of skull", - "primary subdivision of cranial skeletal system", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", - "Hearing impairment", - "abnormal neurocranium morphology", + "cranium", + "frontal cortex", "gray matter", "dermal bone", "aplasia or hypoplasia of skull", "frontal lobe", "pallium", - "abnormal vault of skull", - "Abnormality of the forehead", + "prominent forehead", + "brain gray matter phenotype", "forehead", - "abnormal frontal cortex morphology", "tetrapod frontal bone", + "neurocranium bone", + "gray matter of forebrain phenotype", + "decreased number of cell", + "gray matter phenotype", + "cortex of cerebral lobe", + "primary subdivision of cranial skeletal system", + "vault of skull", + "cardiovascular system physiology phenotype", + "prominent anatomical entity", "neurocranium", - "abnormal great vessel of heart morphology", - "frontal cortex", - "abnormal forehead", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", - "abnormal anus", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "skeleton of lower jaw", - "abnormal small intestine", - "abnormal nose morphology", - "abnormal eyelid morphology", - "manus", - "dermatocranium", - "Abnormal axial skeleton morphology", - "neural tube", - "presumptive structure", - "vertebra", - "abnormal ileum morphology", - "neural tube closure", - "cranium", + "bone of craniocervical region", + "cranial bone", + "intramembranous bone", + "membrane bone", + "heart plus pericardium", + "gray matter of forebrain", + "anus", + "closing of the multicellular anatomical structure", + "material anatomical entity atresia", + "jaw skeleton morphology phenotype", + "multicellular anatomical structure atresia", + "closing of the anatomical structure", + "anus morphology phenotype", + "bone marrow", + "anus atresia", + "anus phenotype", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "closing of the ectoderm-derived structure", + "Abnormal ileum morphology", + "parasympathetic nervous system", + "large intestine morphology phenotype", + "autonomic nervous system", + "Abnormal peripheral nervous system ganglion morphology", + "Abnormal autonomic nervous system morphology", + "ganglion of peripheral nervous system", + "Abnormal large intestine morphology", + "interatrial septum morphology phenotype", + "Abnormality of the autonomic nervous system", + "haemolymphatic fluid", + "ganglion morphology phenotype", + "enteric nervous system", + "Aganglionic megacolon", + "enteric ganglion", + "Megacolon", + "lower digestive tract", + "Abnormal ganglion morphology", + "stylopod", + "late embryo phenotype", + "valve", + "Abnormal femur morphology", + "decreased qualitatively pigmentation", + "increased length of the head or neck skin", + "innominate bone", + "hip joint morphology phenotype", + "Aplasia/Hypoplasia of the radius", + "protruding anatomical entity", + "Abnormal pelvic girdle bone morphology", + "pelvic region of trunk", + "hip", + "appendage girdle region", + "girdle skeleton", "trunk bone", - "Aplasia/hypoplasia involving bones of the extremities", - "entire sense organ system", - "abnormal response to stimulus", - "embryo development ending in birth or egg hatching", + "Lower extremity joint dislocation", + "Abnormal hip bone morphology", + "skeletal joint morphology phenotype", + "heart layer morphology phenotype", + "hip dislocation", + "skeletal joint phenotype", + "synovial joint morphology phenotype", + "girdle bone/zone", + "decreased number of material anatomical entity", + "articular system", + "Hip dislocation", + "outflow part of left ventricle morphology phenotype", "vertebral column", - "Abnormality of the vasculature", + "tube closure phenotype", + "ileum", + "embryonic tissue", + "forehead phenotype", + "neural tube closure", + "dermatocranium", + "Abnormal axial skeleton morphology", "Vertebral arch anomaly", - "face", - "aplasia or hypoplasia of manual digit", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "abnormal neural tube morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal heart valve morphology", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", - "abnormal vertebral column", - "abnormal spinal cord morphology", - "Aganglionic megacolon", - "tube formation", + "increased number of brain ventricle in the cerebrospinal fluid", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "incomplete closing of the material anatomical entity", + "anatomical structure morphogenesis", + "Abnormal ear physiology", + "ecto-epithelium", + "Abnormality of the vasculature", + "incomplete closing of the anatomical entity", + "postcranial axial skeleton", + "localised multicellular anatomical structure", "anatomical structure formation involved in morphogenesis", - "abnormal aortic valve morphology", - "Abnormality of the inner ear", - "abnormal vertebral column morphology", - "abnormal common carotid artery plus branches morphology", - "Abnormal anus morphology", - "abnormal anatomical entity mass density", - "abnormal systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "epithelium development", - "abnormal head", - "artery", - "jaw region", - "arterial system", - "Decreased bone element mass density", - "Abnormal cranial nerve physiology", + "tube formation", + "eyelid morphology phenotype", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "incomplete closing of the vessel", + "presumptive structure", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "entire sense organ system", + "formed organ part", + "bony vertebral centrum", "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", "Clubbing", + "head bone", + "shape digit", + "peripheral nervous system morphology phenotype", + "Abnormal spinal cord morphology", + "nerve phenotype", + "developmental process", + "increased size of the heart right ventricle", + "nervous system morphology phenotype", + "ectoderm-derived structure physiology phenotype", + "manual digit 1 or 5", + "abdominal segment bone", + "Cranial nerve paralysis", + "increased number of multicellular anatomical structure", "Spinal dysraphism", - "decreased qualitatively pigmentation", - "decreased multicellular organism mass", - "innominate bone", "Frontal bossing", "nerve", - "gray matter of forebrain", - "heart plus pericardium", - "Abnormality of the orbital region", - "roof of mouth", - "Pulmonic stenosis", - "Abnormal peripheral nervous system morphology", - "Atypical behavior", - "Abnormal upper limb bone morphology", - "chemosensory system", - "abnormally decreased number of anatomical entity", - "paralysed cranial nerve", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "neural tube formation", - "postcranial axial skeletal system", - "Clubbing of toes", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "skeletal system", - "curved anatomical entity in independent continuant", - "hindlimb skeleton", - "endochondral bone", - "subdivision of skeleton", + "esophagus morphology phenotype", + "cranial nerve", + "internal naris atresia", + "musculature of body", + "nerve of head region", + "phenotype", + "anatomical space", + "pelvic appendage", + "body part movement", + "cranial nerve phenotype", + "artery phenotype", + "autopodial extension", + "Abnormal cranial nerve physiology", "appendage girdle complex", - "subdivision of head", - "ulna endochondral element", - "abnormal shape of cornea", - "abnormal forebrain morphology", + "Abnormal limb bone morphology", + "reproductive process", + "kidney phenotype", + "limb morphology phenotype", + "cognition", + "leukocyte morphology phenotype", + "skeletal element phenotype", + "nerve of head region phenotype", + "decreased functionality of the myocardium", + "limb bone phenotype", + "face", + "multicellular anatomical structure mass phenotype", + "aplasia or hypoplasia of manual digit", + "bone of pectoral complex morphology phenotype", + "increased number of brain ventricle/choroid plexus", + "vertebral column phenotype", + "Hernia of the abdominal wall", + "autopodial extension phenotype", + "Abnormal forearm bone morphology", + "forelimb zeugopod morphology phenotype", "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "Abnormal morphology of ulna", + "femur", + "skull", + "cerebral hemisphere", + "bone of pectoral complex phenotype", + "vault of skull phenotype", + "epithelium development", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "cerebral hemisphere gray matter", + "skin of body", + "Abnormal peripheral nervous system morphology", + "arm bone phenotype", + "olfactory organ phenotype", + "multi-limb segment region phenotype", + "Nystagmus", + "esophagus", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "endochondral element phenotype", + "forelimb bone phenotype", + "bone element", + "decreased reproductive process", + "skeletal element", + "zeugopod", + "system development", "pectoral appendage", "deviation of manual digit 5 towards the middle", - "abnormal opening of the anatomical entity", - "bone element", - "Abnormality of limbs", - "abnormal number of anatomical enitites of type platelet", - "abnormal forelimb zeugopod morphology", - "Abnormal forebrain morphology", - "paired limb/fin", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "septum", - "Abnormality of limb bone morphology", - "developing anatomical structure", - "skeleton of limb", - "forelimb zeugopod skeleton", - "prepuce", - "subdivision of oviduct", - "limb bone", - "pectoral appendage skeleton", - "Abnormal forearm bone morphology", - "morphogenesis of an epithelium", + "bony vertebral centrum morphology phenotype", + "Abnormality of the upper limb", + "reproductive system morphology phenotype", + "olfactory system", + "Neoplasm by anatomical site", + "limb", + "increased size of the material anatomical entity", + "respiratory system", + "hip joint", + "Small intestinal stenosis", + "flat longitudinal arch of pes", + "neuron projection bundle phenotype", + "Abnormal morphology of ulna", + "multicellular organismal reproductive process", "Abnormality of the musculoskeletal system", "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "abnormal digestive system morphology", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "spinal cord", - "appendicular skeleton", - "zeugopod", - "skeletal element", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Abnormal long bone morphology", - "absent sperm in the semen", - "vasculature", - "Spina bifida", - "circulatory system", - "embryonic morphogenesis", - "abnormal liver", + "pectoral appendage skeleton", + "alimentary part of gastrointestinal system phenotype", + "ulna endochondral element", + "localised gonad", + "paired limb/fin", + "incomplete closing of the skeletal element", + "absent sperm", + "subdivision of skeleton", + "shape of forehead phenotype", + "endochondral bone", + "decreased number of anatomical entity", + "Abnormal forebrain morphology", + "Abnormal forearm morphology", + "vertebra", + "multicellular organism height phenotype", + "forelimb long bone", + "vertebral element", + "pelvic region element phenotype", + "viscus", + "reproductive organ phenotype", + "decreased size of the skeletal element", + "bone of free limb or fin", + "arch of centrum of vertebra phenotype", + "limb endochondral element", + "neural tube formation", + "neuron projection bundle", + "digestive system gland phenotype", + "increased length of the skin of eyelid", + "internal male genitalia phenotype", + "Abnormal appendicular skeleton morphology", + "paired limb/fin phenotype", + "Abnormal internal genitalia", + "localised testis", + "decreased qualitatively sensory perception of light stimulus", + "forelimb morphology phenotype", + "Myelodysplasia", "Abnormal blood vessel morphology", - "decreased pigmentation in independent continuant", - "tissue development", - "venous blood vessel", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal blood vessel morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal embryo morphology", - "Abnormal venous morphology", - "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "cortex of cerebral lobe", - "abnormal vascular system morphology", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", - "cardiovascular system", - "blood vasculature", - "tube development", + "parasympathetic ganglion", + "formed ectoderm-derived structure", + "decreased size of the arm bone", + "cardiovascular system phenotype", + "anatomical cluster phenotype", + "blood", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "Functional abnormality of male internal genitalia", "acropodium region", + "coronary vessel", + "cranial nerve physiology phenotype", + "ventricle of nervous system", + "paralysed anatomical entity", + "multi-limb segment region", "blood vessel", - "germ cell", + "compound organ", + "eye", + "venous system", "outflow tract", - "abnormal vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", - "penis", - "Orofacial cleft", - "digestive system element", - "intromittent organ", - "vein", - "multi cell part structure", - "abnormal prepuce of penis morphology", - "myocardium", - "external ear", - "abnormal telencephalon morphology", + "germ cell", + "Abnormal long bone morphology", + "vasculature", + "upper urinary tract phenotype", "Abnormal jaw morphology", "Meckel diverticulum", "irregular bone", "organism", "secondary palate", - "autopod bone", - "Neurodevelopmental abnormality", - "manual digit phalanx endochondral element", - "Abnormality of the immune system", - "abnormal skin of head morphology", - "abnormal neural tube closure", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "nervous system process", + "male reproductive organ morphology phenotype", "skeleton of digitopodium", + "myeloid cell homeostasis", + "glans penis", + "synovial joint of pelvic girdle morphology phenotype", "Abnormal preputium morphology", - "forelimb bone", - "Abnormal uvula morphology", - "abnormal central nervous system morphology", - "ventricular system of central nervous system", + "penis morphology phenotype", + "immune system phenotype", + "digit phenotype", + "mouth phenotype", + "Abnormality of limbs", + "craniocervical region phenotype", + "cornea morphology phenotype", + "leg bone", + "Abnormal skin morphology", + "multi-tissue structure phenotype", + "opaque anatomical entity", + "decreased anatomical structure mass", + "forelimb zeugopod bone phenotype", + "pigmentation", + "developing anatomical structure", + "skeleton of limb", + "Abnormality of skin pigmentation", + "female reproductive system", + "dermal skeleton", + "phenotypic effect", + "aplasia or hypoplasia of iris", + "pigmentation phenotype", + "heart left ventricle morphology phenotype", + "individual digit of digitopodial skeleton", + "Umbilical hernia", + "Arteriovenous malformation", + "increased size of the multi-tissue structure", + "head bone morphology phenotype", + "Abnormal eye morphology", + "incomplete closing of the secondary palate", + "increased length of the material anatomical entity", + "subdivision of skeletal system phenotype", + "integument", + "Abnormal connection of the cardiac segments", + "leg phenotype", + "cardiac atrium", + "Abnormality of the integument", + "genitourinary system phenotype", + "Abnormality of the forehead", + "mouth morphology phenotype", + "multicellular organismal process", + "bone of pelvic complex", + "system process", + "sensory perception", + "number of anatomical enitites of type anatomical entity phenotype", + "Neurodevelopmental abnormality", + "nervous system physiology phenotype", + "process", "Abnormal shape of the frontal region", "central nervous system", - "abnormal arm", "Abnormality of limb bone", "autopod endochondral element", - "cognition", - "ventricular system of brain", "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", + "mandible phenotype", + "autonomic ganglion", + "axial skeletal system", + "brain", + "ventricular system of central nervous system", + "neural crest-derived structure, curved phenotype", + "number of anatomical enitites of type organ part phenotype", + "musculature phenotype", + "reproductive system physiology phenotype", + "myeloid cell differentiation", + "increased number of organ part", + "decreased biological_process in skin of body", + "alimentary part of gastrointestinal system morphology phenotype", + "eyeball of camera-type eye", "decreased length of forelimb zeugopod bone", - "abnormally increased number of anatomical entity", - "Facial asymmetry", - "Abnormal leukocyte count", - "anatomical entity dysfunction in independent continuant", - "abnormal brain morphology", - "abnormal heart layer morphology", - "Abnormal frontal bone morphology", - "Abnormality of lower limb joint", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "cerebrospinal fluid", - "Abnormal cardiovascular system physiology", + "digit 1 plus metapodial segment", + "Abnormality of the anus", + "cerebrospinal fluid morphology phenotype", + "synovial joint", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "increased number of anatomical entity in the cerebrospinal fluid", + "facial bone", + "increased number of brain ventricle", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "size of heart right ventricle phenotype", + "Abnormality of the urinary system", + "incomplete closing of the neural crest-derived structure", "Abnormal cerebrospinal fluid morphology", - "Hydrocephalus", + "external soft tissue zone", + "Abnormal mandible morphology", + "skeletal system phenotype", + "male gamete generation phenotype", + "digit plus metapodial segment", + "head", + "internal genitalia phenotype", + "bone of appendage girdle complex phenotype", + "Abnormal esophagus morphology", + "increased number of anatomical structure in the cerebrospinal fluid", + "organism subdivision", + "multicellular organismal-level homeostasis", + "chordate embryonic development", + "anterior segment of eyeball", + "Abnormal morphology of the great vessels", + "pectoral complex", + "Abnormality of the peripheral nervous system", + "trunk region element", + "endoderm-derived structure", + "lateral structure", + "Orofacial cleft", + "digestive system element", + "Abnormal digestive system morphology", + "Tracheoesophageal fistula", + "spinal cord morphology phenotype", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "nervous system process", + "limb bone morphology phenotype", + "Aplasia/Hypoplasia affecting the eye", + "Abnormal gastrointestinal tract morphology", + "embryonic morphogenesis", + "phalanx of pes morphology phenotype", + "body proper", + "opening of the anatomical entity", + "cell phenotype", + "tracheobronchial tree morphology phenotype", + "subdivision of organism along main body axis phenotype", + "tunica fibrosa of eyeball", + "anatomical structure physiology phenotype", + "mesoderm-derived structure phenotype", + "appendage", + "Abnormal facial shape", + "location of anatomical entity phenotype", + "tube morphogenesis", + "camera-type eye morphology phenotype", + "brain gray matter", + "embryo development", + "Abnormal tracheobronchial morphology", + "eukaryotic cell", + "Abnormal brain morphology", + "size of brain ventricle phenotype", + "limb phenotype", + "Abnormal anterior eye segment morphology", + "organ subunit", + "absent sperm in the semen", + "increased number of material anatomical entity in the cerebrospinal fluid", + "connective tissue phenotype", + "increased biological_process", + "digestive tract", + "face morphology phenotype", + "Abnormal external genitalia", + "arm phenotype", + "digestive system phenotype", + "Abnormal respiratory system physiology", + "reproductive structure physiology phenotype", + "Short stature", + "Abnormality of the vertebral column", + "reproductive organ physiology phenotype", + "anatomical structure formation involved in morphogenesis phenotype", + "male reproductive organ", + "sensory perception of mechanical stimulus phenotype", + "internal naris phenotype", + "disconnected anatomical group", + "cerebral cortex", + "tracheobronchial tree", + "decreased size of the forelimb bone", + "tube development", + "multicellular anatomical structure phenotype", + "Abnormal toe morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "Abnormality of the urethra", + "immaterial entity", + "Abnormal systemic arterial morphology", + "renal system", + "peripheral nervous system", + "Abnormal anterior chamber morphology", + "zeugopodial skeleton", + "head morphology phenotype", + "forelimb skeleton", + "immune system", + "endocrine system", + "sense organ physiology phenotype", + "ear physiology phenotype", + "uterus morphology phenotype", + "Abnormal neural tube morphology", + "Abnormal enteric ganglion morphology", + "excretory system", + "craniocervical region morphology phenotype", + "tube", + "increased number of ventricle of nervous system", + "male reproductive system", + "forelimb endochondral element", + "physiologic nystagmus", + "hemolymphoid system", + "organ subunit phenotype", + "respiratory tract", + "amniotic fluid phenotype", + "respiratory tube", + "glans", + "erythrocyte", + "anatomical entity physiology phenotype", + "developmental process phenotype", + "limb endochondral element phenotype", + "blood vasculature", + "ectoderm-derived structure, asymmetrically curved phenotype", + "increased reflex", + "long bone", + "material entity", + "cardiovascular system", + "number of sperm phenotype", + "skin of body phenotype", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "decreased length of limb bone", + "structure with developmental contribution from neural crest", + "intromittent organ phenotype", + "Abnormal cerebral ventricle morphology", + "pelvic girdle bone/zone morphology phenotype", "Neural tube defect", + "prepuce", + "decreased male gamete generation", "organ system subdivision", - "abnormal nervous system morphology", + "Syndactyly", + "skeletal system morphology phenotype", + "increased number of ventricle of nervous system in the cerebrospinal fluid", + "Abnormal peripheral nerve morphology by anatomical site", + "independent continuant", + "anatomical line between pupils", + "reproductive system", + "thoracic cavity element", + "skeleton", + "multicellular organism", + "Abnormality of the orbital region", + "decreased size of the limb endochondral element", + "roof of mouth", + "neural tube development", + "external genitalia", + "camera-type eye", + "decreased number of myeloid cell", + "Abnormality of mental function", + "external male genitalia phenotype", + "increased number of organ component layer in the cerebrospinal fluid", "forelimb zeugopod bone", + "head phenotype", + "vascular system morphology phenotype", + "Abnormal digit morphology", + "penis phenotype", + "structure with developmental contribution from neural crest physiology phenotype", + "bone of pectoral complex", + "decreased length of anatomical entity", + "anatomical entity mass phenotype", + "Decreased anatomical entity mass", + "entity", + "Abnormal form of the vertebral bodies", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "gray matter of telencephalon", + "urethral meatus", + "dorsal region element", + "Abnormality of the cardiovascular system", + "central nervous system gray matter layer", + "pedal digit bone", + "increased length of the non-material anatomical boundary", + "chamber of eyeball", + "Clinodactyly", + "palatine uvula", + "reproductive structure phenotype", + "quality", + "central nervous system cell part cluster phenotype", + "anatomical collection phenotype", "Abnormal toe phalanx morphology", "arch of centrum of vertebra", - "abnormality of internal male genitalia physiology", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal nervous system", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "Abnormal nervous system morphology", - "sense organ", - "material entity", - "increased reflex", - "long bone", - "internal male genitalia", - "curved anatomical entity", - "digestive system", - "decreased length of long bone", - "abnormal anatomical entity morphology in the brain", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "anatomical line between pupils", - "abnormal neocortex morphology", - "decreased biological_process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal heart morphology", - "appendage girdle region", - "dorsum", - "cranial nerve", - "testis", + "Abnormal leukocyte morphology", + "axial skeleton plus cranial skeleton", + "increased length of the skin of face", + "decreased size of the limb bone", + "central nervous system morphology phenotype", + "shape of external ear phenotype", + "anatomical conduit phenotype", + "skeleton of lower jaw", + "common carotid artery plus branches morphology phenotype", + "eyelid", + "endochondral bone phenotype", + "Abnormality of the ear", + "decreased qualitatively developmental process involved in reproduction", + "Abnormal male urethral meatus morphology", + "reproductive structure", + "epithelial tube", + "decreased height of the anatomical entity", + "decreased developmental process involved in reproduction", + "Abnormality of the eye", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "decreased anatomical structure development", + "anatomical structure phenotype", "anatomical system", "upper digestive tract", - "Small intestinal stenosis", - "male gamete generation", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "Abnormality of blood and blood-forming tissues", - "abnormality of multicellular organism height", - "abnormal limb morphology", - "upper urinary tract", - "right cardiac chamber", - "manual digitopodium region", - "abnormal enteric nervous system morphology", - "Abnormality of male external genitalia", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal voluntary movement behavior", - "tissue", - "absent anatomical entity in the semen", + "sense organ phenotype", + "multicellular anatomical structure morphology in the heart phenotype", + "Abnormality of reproductive system physiology", + "appendicular skeleton morphology phenotype", + "occurrent", + "pedal digit phalanx endochondral element", + "organ", + "pedal digit plus metapodial segment", + "Phenotypic abnormality", + "multicellular anatomical structure physiology phenotype", + "increased number of organ component layer", + "nervous system", + "anatomical projection phenotype", + "anatomical system physiology phenotype", + "Displacement of the urethral meatus", + "organ part physiology phenotype", + "skin of body morphology phenotype", + "voluntary musculoskeletal movement phenotype", + "brain ventricle phenotype", + "material anatomical entity", + "Abnormality of immune system physiology", + "localised anatomical entity", + "organ system subdivision phenotype", + "simple eye phenotype", + "homeostatic process phenotype", + "behavior", + "abdomen element", + "protruding eyeball of camera-type eye", + "embryonic epithelial tube formation", + "respiratory airway", + "subdivision of trunk", + "multicellular organismal movement", + "fused anatomical entity and anatomical entity", + "neural tube", + "male urethra", + "organ part", + "Decreased bone element mass density", + "material anatomical entity phenotype", + "Short palpebral fissure", + "umbilicus morphology phenotype", + "Abnormal skeletal morphology", + "increased pigmentation", + "Abnormality of the genital system", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "shape of continuant phenotype", + "deviation of digit towards the middle", + "lower urinary tract", + "Abnormality of globe location", + "jaw region", + "artery", + "telencephalon phenotype", + "curved anatomical entity", + "anatomical entity morphology phenotype", + "decreased length of long bone", "subdivision of organism along appendicular axis", + "decreased length of endochondral element", + "Abnormal cell morphology", + "Abnormal palate morphology", + "articulation", + "cornea, curved phenotype", + "mesoderm-derived structure", + "autopod bone", + "system", + "anatomical structure, curved phenotype", + "brain morphology phenotype", + "subdivision of head", + "increased number of ectoderm-derived structure", + "musculoskeletal movement phenotype", + "anterior chamber of eyeball morphology phenotype", + "transparent eye structure", + "dentary", + "behavior process phenotype", + "femur endochondral element", + "organ component layer phenotype", + "subdivision of tube", + "Abnormality of the inner ear", + "vertebra morphology phenotype", + "Decreased fertility in males", + "taxon specific phenotype", + "anatomical structure", + "subdivision of oviduct", + "limb bone", + "subdivision of digestive tract phenotype", + "cerebral cortex morphology phenotype", + "urethra phenotype", + "Abnormality of the lower urinary tract", + "Hypogonadism", + "urethral opening", + "arm bone", + "skeleton of pectoral complex", + "specifically dependent continuant", + "decreased length of arm bone", + "increased size of the zone of skin", + "cornea phenotype", + "formed chamber of eyeball", + "Decreased head circumference", + "anatomical entity", + "localised material anatomical entity", + "ear phenotype", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "increased volume of anatomical entity", + "forelimb bone", + "Abnormal uvula morphology", + "endochondral element", + "anatomical entity hypoplasia", + "Intellectual disability", + "embryonic structure", + "endoderm-derived structure phenotype", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "Abnormal penis morphology", + "appendage phenotype", + "Hypoplastic facial bones", + "organism subdivision phenotype", + "arm", + "forelimb zeugopod skeleton", + "male reproductive organ phenotype", + "ocular surface region", + "thoracic segment of trunk", + "bone of jaw phenotype", + "number of anatomical enitites of type material anatomical entity phenotype", + "tetrapod frontal bone morphology phenotype", + "pes bone", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "Abnormality of the respiratory system", + "segment of autopod", + "ductus arteriosus morphology phenotype", + "increased pigmentation in skin of body", + "cranial neuron projection bundle phenotype", "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "abnormal amniotic fluid", - "system process", - "male gamete", - "abnormal arch of centrum of vertebra", + "reproductive organ", + "Abnormality of the digestive system", + "anatomical structure development", + "arterial blood vessel", + "decreased spermatogenesis", + "limb segment", + "external genitalia phenotype", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "size of palpebral fissure phenotype", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "Abnormal curvature of the vertebral column", + "multi cell part structure phenotype", + "ureter phenotype", + "hematopoietic system", + "multicellular anatomical structure", + "reproductive system phenotype", + "hindlimb endochondral element", + "ventricular system of brain", + "innominate bone morphology phenotype", + "eye phenotype", + "structure with developmental contribution from neural crest phenotype", + "Abnormal vertebral morphology", + "Abnormal male external genitalia morphology", + "localised reproductive organ", + "glandular system", + "myocardium", + "external ear", + "decreased length of bone of appendage girdle complex", "bone of appendage girdle complex", "anatomical wall", - "embryo", - "Absent testis", - "abnormal limb bone", - "anatomical structure morphogenesis", - "Aplasia/Hypoplasia affecting the uvea", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "vessel", - "lateral structure", - "abnormal blood cell morphology", - "abnormal cell", - "male reproductive organ", - "disconnected anatomical group", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "Anal atresia", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "anterior region of body", - "Abnormality of the upper limb", - "entity", - "Decreased anatomical entity mass", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "All", - "Abnormal bone structure", - "system development", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "manual digit", - "abnormal reproductive process", - "abnormal shape of continuant", - "pulmonary valve", - "cellular organisms", - "vertebral element", - "viscus", - "bone of free limb or fin", - "abnormal pedal digit morphology", - "abnormal ear", - "Abnormal external genitalia", - "material anatomical entity", - "abnormal internal naris", - "Cranial nerve paralysis", - "developmental process", - "abnormal ureter", - "absent anatomical entity in the independent continuant", - "manual digit 1 or 5", - "abdominal segment bone", - "gonad", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "ganglion", + "closing of the material anatomical entity", + "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid", "sensory system", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "absent sperm in the independent continuant", - "pelvic region element", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "abnormal internal genitalia", - "ocular surface region", - "internal genitalia", - "limb", - "respiratory system", - "hip joint", + "Scoliosis", + "multicellular anatomical structure, curved phenotype", + "Almond-shaped palpebral fissure", + "response to stimulus phenotype", + "Abdominal wall defect", + "material anatomical entity physiology phenotype", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "cerebrospinal fluid", + "main body axis", + "tissue development", + "venous blood vessel", + "camera-type eye phenotype", + "physiologic nystagmus phenotype", + "increased size of the immaterial anatomical entity", + "manus", + "chemosensory system", + "organ physiology phenotype", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "renal system phenotype", + "bone marrow cell", + "multicellular organism phenotype", + "upper limb segment", + "biological_process", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "camera-type eye physiology phenotype", + "blood vessel morphology phenotype", + "zone of skin morphology phenotype", + "ganglion", + "subdivision of head phenotype", + "Abnormality of the curvature of the cornea", "cell", - "abnormal interventricular septum morphology", "Abnormality of the mouth", - "abnormal ductus arteriosus morphology", "Finger syndactyly", - "abnormal peripheral nervous system morphology", - "bodily fluid", - "multi-tissue structure", - "abnormal ear morphology", - "abnormal number of anatomical enitites of type sperm", - "hepatobiliary system", - "subdivision of skeletal system", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "dorsal region element", - "Abnormality of the cardiovascular system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "exocrine system", - "Abnormality of the genitourinary system", - "shape digit", - "head bone", - "absent germ cell", - "Abnormal heart valve physiology", - "changed biological_process rate", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal systemic arterial morphology", - "spermatogenesis", - "abnormal shape of palpebral fissure", + "lower respiratory tract", + "visual system", + "uvea morphology phenotype", + "bone of craniocervical region phenotype", + "structure with developmental contribution from neural crest, curved phenotype", + "renal system physiology phenotype", + "multicellular organism morphology phenotype", + "anatomical structure, asymmetrically curved phenotype", + "Hypermelanotic macule", + "simple eye", + "Abnormality of the skeletal system", + "zone of organ phenotype", + "trachea", + "Deviation of finger", + "subdivision of digestive tract", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "number of anatomical enitites of type organ component layer phenotype", + "Abnormal lens morphology", + "simple eye physiology phenotype", + "Anal atresia", + "anatomical conduit", + "Abnormality of the head", + "Abnormal enteric nervous system morphology", + "future central nervous system", + "absent anatomical structure in the multicellular organism", + "craniofacial/craniocervical phenotype", + "fused pedal digit and pedal digit", + "ocular surface region morphology phenotype", + "decreased length of anatomical structure", + "cornea", + "abdominal wall", + "3-D shape anatomical entity", + "external male genitalia", + "brain ventricle/choroid plexus morphology phenotype", + "orifice", + "shape cornea", + "multicellular organism development phenotype", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal vascular morphology", + "Abnormality of skull size", + "decreased length of bone of pectoral complex", + "ventricle of nervous system phenotype", + "increased number of anatomical structure", "delayed biological_process", "systemic artery", - "developmental process involved in reproduction", - "Abnormality of the nose", "organism substance", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "neural tube development", - "external genitalia", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "hematopoietic system", - "multicellular anatomical structure", - "abnormal leukocyte morphology", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormal heart morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "Abnormal spinal cord morphology", - "neuron projection bundle", - "Abnormal esophagus morphology", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "abnormal bone element mass density", - "main body axis", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal cardiac atrium morphology in the heart", - "morphogenesis of embryonic epithelium", - "haploid cell", - "conceptus", - "abnormal vertebra morphology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "epithelial tube morphogenesis", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "abnormal male reproductive organ morphology", - "occurrent", - "pedal digit phalanx endochondral element", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormal small intestine morphology", - "Azoospermia", - "platelet", - "Growth abnormality", - "hip", - "primary neural tube formation", - "renal pelvis/ureter", - "male urethral meatus", - "reproductive organ", - "anus atresia", - "abnormal skull morphology", - "Short long bone", - "Ventricular septal defect", - "small intestine", - "subdivision of organism along main body axis", - "prominent forehead", - "abnormal incomplete closing of the arch of centrum of vertebra", - "segment of manus", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "aplasia or hypoplasia of anatomical entity", - "limb long bone", - "compound organ", - "eye", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "external male genitalia", - "Hypogonadism", - "urethral opening", - "arm bone", - "Abnormal reflex", - "hindlimb joint", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Short palpebral fissure", - "Abnormal skeletal morphology", - "increased pigmentation", - "skeleton of pectoral complex", - "specifically dependent continuant", - "abnormal autonomic nervous system morphology", - "ganglion of peripheral nervous system", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", - "Abnormal ear physiology", - "ecto-epithelium", - "abnormal closing of the anatomical entity", - "reproductive structure", - "tunica fibrosa of eyeball", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "upper limb segment", - "biological_process", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "absent gamete", - "naris", - "iris", - "abnormal number of anatomical enitites of type anatomical entity", - "organ", - "pedal digit plus metapodial segment", - "reproduction", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "Abnormality of the peripheral nervous system", - "trunk region element", - "cerebral cortex", - "tracheobronchial tree", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "abnormal synovial joint morphology", - "reproductive system", - "multi-limb segment region", - "ventricle of nervous system", - "paralysed anatomical entity", - "pelvic appendage", - "abnormal eyeball of camera-type eye", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "body proper", - "abnormal respiratory tube morphology", - "Abnormal morphology of female internal genitalia", - "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", - "process", - "vestibulo-auditory system", - "anterior uvea", - "abnormality of camera-type eye physiology", - "organism subdivision", - "Dolichocephaly", - "common carotid artery plus branches", - "drooping eyelid", - "Abnormal cardiac ventricle morphology", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", - "external soft tissue zone", - "digit plus metapodial segment", - "head", - "abnormal reproductive system", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of body height", + "decreased size of the mesoderm-derived structure", + "neural crest-derived structure, asymmetrically curved phenotype", + "non-material anatomical boundary", "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "ileum", - "embryonic tissue", - "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "Syndactyly", - "abnormal head morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Sloping forehead", - "abnormal manual digit 5 morphology", + "cardiac chamber", + "eye physiology phenotype", + "lower urinary tract phenotype", "non-connected functional system", - "digestive tract", - "subdivision of digestive tract", - "Abnormal pinna morphology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "abnormality of cranial nerve physiology", - "independent continuant", - "abnormal pigmentation", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "Abnormal ear morphology", - "Abnormal morphology of the great vessels", - "pectoral complex", - "venous system", - "musculoskeletal movement", - "decreased qualitatively biological_process", - "anatomical entity", - "abnormal trachea morphology", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "behavior process", - "anterior chamber of eyeball", - "abnormal development of anatomical entity", - "increased biological_process", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "embryonic epithelial tube formation", - "respiratory airway", - "abnormal secondary palate morphology", - "subdivision of tube", - "Abnormal respiratory system morphology", - "Abnormal lens morphology", - "Multiple cafe-au-lait spots", - "system", - "transparent eye structure", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", - "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", - "brain gray matter", - "embryo development", - "Abnormal tracheobronchial morphology", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormal postcranial axial skeleton morphology", - "multicellular organismal-level homeostasis", - "chordate embryonic development", - "anterior segment of eyeball", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal palpebral fissure", - "abnormal tube formation", - "thoracic segment of trunk", - "pes bone", - "abnormal bone of pelvic complex morphology", - "arm", - "Short stature", - "Abnormality of the vertebral column", - "abnormal digestive system", - "flat longitudinal arch of pes", - "abnormal bone of pectoral complex morphology", - "orifice", - "craniocervical region", - "abnormal developmental process", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", - "Nystagmus", - "esophagus", - "physiologic nystagmus", - "hemolymphoid system", - "Lower extremity joint dislocation", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "Hip dislocation", - "skeleton", - "multicellular organism", - "thoracic cavity element", - "Abnormal penis morphology", - "Intellectual disability", - "abnormal ocular adnexa", - "embryonic structure", - "brain ventricle/choroid plexus", - "proximo-distal subdivision of respiratory tract", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "organ subunit", - "Abnormal neural tube morphology", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of the testes", - "left cardiac chamber", - "Slanting of the palpebral fissure", - "Abnormal anterior eye segment morphology", - "cornea", - "abdominal wall", - "3-D shape anatomical entity", - "shape cornea", - "lower respiratory tract", - "visual system", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "Abnormality of the ear", - "eyelid", - "abnormally decreased number of leukocyte", + "increased number of anatomical entity", + "increased height of the neural crest-derived structure", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "anatomical system phenotype", + "incomplete closing of the abdominal wall", + "Clinodactyly of the 5th finger", + "sense organ", "orbital region", - "abnormal alimentary part of gastrointestinal system", - "Abnormal carotid artery morphology", - "Astigmatism", + "hypertrophic heart right ventricle", + "vasculature phenotype", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "anterior segment of eyeball morphology phenotype", + "face phenotype", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "curvature anatomical entity", + "increased number of material anatomical entity", + "skeletal system", + "hindlimb skeleton", + "protein-containing material entity", + "anatomical entity phenotype", + "gamete generation", + "organ part phenotype", + "male organism", + "fused pedal digit and anatomical entity", + "Irregular hyperpigmentation", + "lateral structure phenotype", "pelvic girdle region", "paired limb/fin segment", "multicellular organism development", "Ventriculomegaly", - "abnormal posterior nasal aperture morphology", - "curvature anatomical entity", - "abnormal camera-type eye morphology", - "abnormal orbital region", - "abnormal bony vertebral centrum morphology", - "simple eye", - "anus", - "Abnormal skull morphology", - "sensory perception", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Weight loss", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "growth", - "cardiac valve", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Decreased body weight", - "autopodial extension", - "abnormal forelimb zeugopod bone", - "valve", - "endochondral element", - "anatomical entity hypoplasia", - "abnormal cardiac ventricle morphology", - "motile cell", - "abnormal leg", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "internal ear", - "heart left ventricle", - "epithelium", - "autopodial skeleton", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "Opisthokonta", - "Abnormality of digestive system morphology", - "Abnormality of the ocular adnexa", + "urethra", + "thoracic segment organ", + "Astigmatism", + "Abnormal carotid artery morphology", + "anterior region of body", + "Abnormal reproductive system morphology", + "lateral structure physiology phenotype", + "synovial joint of pelvic girdle", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "upper leg bone", + "multicellular anatomical structure, asymmetrically curved phenotype", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "asymmetrically curved cornea", + "decreased qualitatively reproductive process", + "dermal skeletal element phenotype", + "neural crest-derived structure", + "incomplete closing of the interatrial septum", + "epithelial tube formation", + "digestive system element phenotype", + "brain ventricle morphology phenotype", + "Abnormal umbilicus morphology", + "increased number of organ part in the cerebrospinal fluid", + "Abnormal joint morphology", + "transudate", + "increased number of ectoderm-derived structure in the cerebrospinal fluid", + "multi cell part structure", + "vein", + "limb long bone morphology phenotype", + "bodily fluid", + "multi-tissue structure", + "facial skeleton morphology phenotype", + "limb long bone phenotype", + "All", + "Abnormal bone structure", + "naris phenotype", + "lens of camera-type eye morphology phenotype", + "nervous system phenotype", + "postcranial axial skeletal system", + "Clubbing of toes", + "arterial system", + "bone of pelvic complex morphology phenotype", + "kidney morphology phenotype", + "dorsum", + "nervous system development", + "tube formation phenotype", + "peripheral nervous system phenotype", + "tissue", + "cell differentiation", + "forelimb zeugopod bone morphology phenotype", + "brain ventricle", + "future nervous system", + "regional part of nervous system phenotype", + "Reduced bone mineral density", + "circulatory system", + "Spina bifida", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "appendicular skeleton", + "spinal cord", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "manual digit 1 phalanx", + "orifice phenotype", + "neocortex morphology phenotype", "gamete", "upper jaw region", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", + "palpebral fissure phenotype", "Upslanted palpebral fissure", "manual digit plus metapodial segment", "Abnormal bone ossification", - "Abnormal facial skeleton morphology", - "multi organ part structure", - "increased length of the anatomical line between pupils", - "Abnormal ocular adnexa morphology", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", "Abnormal eyelid morphology", + "palpebral fissure", "female reproductive organ", "ocular adnexa", - "palpebral fissure", - "abnormal lens of camera-type eye morphology", + "opaque lens of camera-type eye", + "blood cell phenotype", + "decreased number of leukocyte", + "lens of camera-type eye phenotype", + "Abnormality of the gastrointestinal tract", + "transparent eye structure phenotype", "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "opaque anatomical entity", - "clavate digit", - "shape eyelid", "Atrial septal defect", "drooping anatomical entity", + "eyelid phenotype", + "large intestine", "Ptosis", "Abnormal cornea morphology", "gland", - "myeloid cell homeostasis", - "glans penis", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", - "olfactory organ", + "clavate digit", + "decreased size of the anatomical structure", + "shape eyelid", + "decreased qualitatively sensory perception", + "incomplete closing of the multicellular anatomical structure", + "Hydrocephalus", + "telencephalon morphology phenotype", + "hindlimb morphology phenotype", + "anatomical projection", + "number of hematopoietic cell phenotype", + "Eumetazoa", + "phalanx morphology phenotype", + "Eukaryota", + "Metazoa", + "Abnormal hand morphology", + "forebrain morphology phenotype", + "root", + "aplasia or hypoplasia of telencephalon", + "Abnormality of the male genitalia", + "increased size of the organ part", + "cellular organisms", + "size of skull phenotype", + "increased length of the multicellular anatomical structure", + "Bicornuate uterus", + "regional part of brain phenotype", + "limb long bone", + "aplasia or hypoplasia of anatomical entity", + "systemic artery morphology phenotype", + "decreased biological_process", + "size of anatomical entity phenotype", + "female reproductive system morphology phenotype", + "telencephalon", "cranial skeletal system", "nose", + "decreased size of the endochondral element", "endocrine gland", - "sperm", - "internal naris", - "Neoplasm by anatomical site", - "olfactory system", - "Abnormality of the nervous system", - "pedal digit digitopodial skeleton", - "pelvic region of trunk", - "bony vertebral centrum", - "abnormal olfactory system morphology", - "abnormal nose", - "Abnormal male urethral meatus morphology", - "renal system", - "male urethra", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "abnormal urethra", - "excretory system", - "posterior nasal aperture atresia", - "Hypospadias", - "epicanthal fold", - "hindlimb long bone", - "abnormal lower urinary tract", - "segment of pes", - "voluntary movement behavior", - "Renal hypoplasia/aplasia", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", - "thoracic segment organ", - "urethra", - "gray matter of telencephalon", - "urethral meatus", - "Abnormality of prenatal development or birth", - "nervous system", - "abnormal face", - "Displacement of the urethral meatus", - "abnormal spermatogenesis", - "Abnormal shape of the palpebral fissure", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "root", - "regional part of nervous system", - "Abnormal midface morphology", - "Decreased head circumference", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "Abnormal pulmonary valve morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anterior chamber of eyeball morphology", - "telencephalon", - "Abnormal vascular morphology", - "Abnormality of skull size", - "Eukaryota", - "Deviation of the 5th finger", - "regional part of brain", - "Visual impairment", - "ulna", - "abdomen", - "deviation of manual digit towards the middle", - "Eumetazoa", "tube closure", + "ocular adnexa phenotype", "Aplasia/Hypoplasia of the cerebrum", + "autonomic nervous system phenotype", "Abnormality of the abdominal organs", + "vertebral column morphology phenotype", "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", - "abnormality of renal system physiology", - "abnormal esophagus morphology", - "abnormal size of anatomical entity", - "digit 1 plus metapodial segment", - "synovial joint", - "Abnormality of the anus", - "abnormal immune system", - "pedal digitopodium region", - "abnormally decreased number of cell", - "Functional abnormality of the inner ear", - "pedal digit", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "axial skeleton plus cranial skeleton", - "Abnormal leukocyte morphology", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "Leukopenia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal kidney", - "abnormal number of anatomical enitites of type leukocyte", - "abnormally decreased number of leukocyte in the blood", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "haemolymphatic fluid", - "abnormal hematopoietic system", - "delayed growth", - "abnormal immune system morphology", - "Hematological neoplasm", - "Reduced bone mineral density", - "Myelodysplasia", - "Abnormality of vision", - "Non-obstructive azoospermia", - "increased size of the anatomical entity in independent continuant", - "central nervous system gray matter layer", - "chamber of eyeball", - "pedal digit bone", - "cardiac atrium", - "Abnormality of the integument", - "abnormal size of brain ventricle", + "Deviation of the 5th finger", + "regional part of brain", + "regional part of nervous system", + "interventricular septum", + "increased length of the anatomical line", + "ganglion of peripheral nervous system morphology phenotype", + "Abnormal midface morphology", + "Abnormal skull morphology", + "skull morphology phenotype", + "oral cavity", + "Abnormality of the ocular adnexa", + "Opisthokonta", + "testis", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Abnormality of the testis size", + "gonad", + "palatine uvula morphology phenotype", + "Decreased anatomical entity mass density", + "embryo", + "Absent testis", + "integument phenotype", + "vision/eye phenotype", + "secondary palate morphology phenotype", + "decreased length of forelimb bone", + "long bone phenotype", + "Abnormality of the outer ear", + "number of myeloid cell phenotype", + "absent germ cell", + "ear morphology phenotype", + "bone element phenotype", + "male reproductive system phenotype", + "vestibulo-auditory system", + "anterior uvea", + "Abnormality of blood and blood-forming tissues", + "external ear phenotype", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "increased size of the non-material anatomical boundary", + "incomplete closing of the organ", + "Abnormal pinna morphology", + "Abnormal ear morphology", + "ear", + "artery morphology phenotype", + "developmental process involved in reproduction phenotype", + "male reproductive organ physiology phenotype", + "internal male genitalia", + "anatomical entity morphology in the brain phenotype", + "incomplete closing of the ectoderm-derived structure", + "eyeball of camera-type eye phenotype", + "increased size of the anatomical structure", + "multi organ part structure phenotype", + "increased size of the ventricle of nervous system", + "epicanthal fold", + "hindlimb long bone", + "decreased length of multicellular anatomical structure", + "abdomen element phenotype", + "increased size of the organ component layer", + "Abnormal nasal morphology", + "internal male genitalia physiology phenotype", + "duodenum morphology phenotype", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "paralysed cranial nerve", + "increased size of the ectoderm-derived structure", + "abdomen element physiology phenotype", + "increased length of the zone of organ", + "absent anatomical structure", + "trunk", + "manual digit 5 plus metapodial segment", + "female reproductive system phenotype", "zone of organ", + "skull phenotype", "increased size of the brain ventricle", - "liver", - "abnormal endocrine system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", + "increased size of the multicellular anatomical structure", + "visual perception phenotype", + "craniocervical region", + "endocrine system phenotype", + "structure with developmental contribution from neural crest, asymmetrically curved phenotype", + "digestive system morphology phenotype", + "exocrine gland phenotype", "Decreased fertility", - "Abnormality of the endocrine system", - "forelimb", - "skeleton of pelvic complex", + "Abnormality of the genitourinary system", + "exocrine system", + "decreased length of forelimb endochondral element", + "intromittent organ", + "respiratory system morphology phenotype", + "gland phenotype", + "Abnormality of the liver", + "fused anatomical entity and manual digit", + "incomplete closing of the roof of mouth", + "liver", + "abdominal segment element phenotype", "abdominal segment of trunk", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "trunk region element phenotype", "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "Abnormality of the liver", - "behavior", - "abdomen element", - "glandular system", - "abnormal hypothalamus-pituitary axis", - "non-material anatomical boundary", - "abnormally fused pedal digit and anatomical entity", - "abnormal location of anatomical entity", - "Renal insufficiency", - "late embryo", - "Cardiomyopathy", - "flat bone", - "increased anatomical entity length in independent continuant", + "gonad phenotype", + "internal ear phenotype", + "liver phenotype", + "decreased functionality of the mesoderm-derived structure", + "gamete generation phenotype", + "subdivision of skeletal system", + "hepatobiliary system", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "behavior process", + "cardiovascular system morphology phenotype", + "anterior chamber of eyeball", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "material anatomical entity, curved phenotype", + "endocrine gland phenotype", + "increased size of the right cardiac chamber", + "hypothalamus-pituitary axis phenotype", + "posterior nasal aperture phenotype", + "hypothalamus-pituitary axis", + "Abnormal reflex", + "hindlimb joint", + "anatomical line phenotype", + "penis", + "increased size of the anatomical line", + "tube phenotype", "Hypertelorism", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", - "immaterial anatomical entity", - "abnormal anatomical entity, curved", + "increased length of the anatomical entity", "anatomical line", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "Oligohydramnios", - "amniotic fluid", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "duodenum", - "cavitated compound organ", - "Abnormal duodenum morphology", - "abnormal hindlimb morphology", - "clavate anatomical entity", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "shape forehead", - "posterior region of body", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal digit", - "skeleton of pedal digitopodium", - "skeleton of pedal acropodium", - "vertebral centrum element", - "pelvic appendage skeleton", - "hindlimb endochondral element", + "immaterial anatomical entity phenotype", + "non-material anatomical boundary phenotype", + "increased length of the immaterial anatomical entity", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "intestine", + "ectoderm-derived structure phenotype", + "immaterial anatomical entity", + "anatomical entity length phenotype", + "decreased qualitatively multicellular organism development", + "digit", + "location of eyeball of camera-type eye phenotype", + "decreased size of the sense organ", + "vessel", + "spermatogenesis phenotype", + "anatomical entity atresia", + "Abnormal spermatogenesis", + "absent material anatomical entity in the multicellular organism", + "morphogenesis of embryonic epithelium", + "haploid cell", + "germ line cell", + "Cafe-au-lait spot", + "gamete phenotype", + "absent material anatomical entity", + "spermatogenesis", + "internal naris", + "sperm", + "erythroid lineage cell morphology phenotype", + "limb segment phenotype", + "number of cell phenotype", + "decreased qualitatively developmental process", + "reproductive process phenotype", + "male gamete", + "prepuce of penis morphology phenotype", + "absent gamete", + "decreased sensory perception of mechanical stimulus", + "iris", + "integumental system", + "semen", + "Aplasia/Hypoplasia affecting the uvea", + "decreased gamete generation", + "absent anatomical entity in the semen", + "subdivision of skeleton phenotype", + "male reproductive system physiology phenotype", + "conceptus", + "decreased multicellular organismal reproductive process", + "Abnormal cellular phenotype", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "internal genitalia", "skeleton of pes", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", - "Duodenal stenosis", + "pes morphology phenotype", + "organ part morphology in the heart phenotype", + "reproduction", + "closing of the anatomical conduit", + "developmental process rate phenotype", + "epithelium", + "autopodial skeleton", + "outflow tract of ventricle", + "increased size of the brain ventricle/choroid plexus", + "Abnormality of the skin", + "biological_process rate phenotype", + "Abnormality of the palpebral fissures", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "oxygen accumulating cell", + "manual digit phenotype", + "multicellular organismal reproductive process phenotype", + "Abnormality of the nose", + "developmental process involved in reproduction", + "sexual reproduction", + "male gamete generation", + "fused anatomical entity and digit", + "hematopoietic system phenotype", + "small intestine morphology phenotype", + "small intestine", + "cavitated compound organ", + "Abnormal duodenum morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "small intestine phenotype", "Abnormal foot morphology", - "Hypermelanotic macule", + "Duodenal stenosis", + "testis phenotype", + "Abnormality of movement", + "intestine morphology phenotype", + "subdivision of tube phenotype", + "increased length of the skin of head", + "Azoospermia", + "Abnormal small intestine morphology", + "clavate anatomical entity", + "Hydroureter", + "membrane bone phenotype", + "Abnormal uterus morphology", + "myocardium phenotype", + "Abnormal oral morphology", + "Choanal atresia", + "acropodial skeleton", + "autopod region morphology phenotype", + "continuant", + "hindlimb", + "Functional abnormality of the inner ear", + "pedal digit", "leg", - "abnormally decreased number of anatomical entity in the blood", + "neoplasm phenotype", "phalanx of pes", - "abnormal long bone morphology", + "cardiac valve morphology phenotype", + "orifice atresia", "digitopodium bone", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal iris morphology", "phalanx", - "abnormal phalanx of pes morphology", - "3-D shape anatomical entity in independent continuant", - "abnormal digit morphology", - "Choanal atresia", - "acropodial skeleton", - "digit", - "abnormal phalanx morphology", - "pes", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "Abnormal digit morphology", - "phalanx endochondral element", - "abnormal autopod region morphology", "Abnormality of the lower limb", - "individual digit of digitopodial skeleton", + "jaw skeleton", + "exocrine gland", + "hindlimb bone", + "phalanx endochondral element", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "pes", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "localised reproductive structure", "digitopodium region", - "genitourinary system", - "Limb undergrowth", - "abnormal kidney morphology", - "skull", - "femur", + "fused manual digit and manual digit", + "pedal digitopodium region", + "material anatomical entity, asymmetrically curved phenotype", + "lower limb segment", + "increased length of the anatomical structure", + "pedal digitopodium bone", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "digit morphology phenotype", + "pelvic complex", + "duodenum", + "formed organ subunit", + "long bone morphology phenotype", + "incomplete closing of the mesoderm-derived structure", + "decreased size of the forelimb zeugopod bone", + "joint of girdle morphology phenotype", + "Proptosis", + "hindlimb stylopod", + "lower limb segment phenotype", + "pelvic girdle skeleton", + "pedal digit morphology phenotype", + "posterior region of body", + "Abnormal lower limb bone morphology", + "incomplete closing of the arch of centrum of vertebra", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "radius endochondral element", + "skin of face morphology phenotype", + "Abnormal renal morphology", + "subdivision of organism along appendicular axis phenotype", + "Abnormal cardiovascular system morphology", + "Abnormal ocular adnexa morphology", + "cavitated compound organ phenotype", + "Abnormal localization of kidney", "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", + "Abnormal anus morphology", + "compound organ phenotype", + "decreased functionality of the reproductive organ", + "Abnormality of the female genitalia", + "cardiac ventricle morphology phenotype", + "renal system morphology phenotype", + "male reproductive system morphology phenotype", + "orbital region phenotype", "Abnormality of the kidney", - "Decreased fertility in males", - "prominent anatomical entity", - "abnormal roof of mouth morphology", - "anatomical projection", - "abnormal midface morphology", + "neural tube closure phenotype", + "kidney", "mouth", "Aplasia/Hypoplasia of the iris", + "midface morphology phenotype", + "oral cavity morphology phenotype", + "morphological feature phenotype", + "myocardium morphology phenotype", + "incomplete closing of the anatomical structure", "Abnormal oral cavity morphology", + "roof of mouth morphology phenotype", + "anatomical cavity", "Abnormal aortic valve morphology", + "increased number of multicellular anatomical structure in the cerebrospinal fluid", "midface", - "abnormal soft palate morphology", - "palatine uvula", "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", "soft palate", - "abnormal oral cavity morphology", - "abnormal mouth", + "soft palate morphology phenotype", + "Abnormal soft palate morphology", "primary circulatory organ", + "ectoderm-derived structure, curved phenotype", "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", - "Abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "anatomical cavity", - "absent sperm", - "abnormally formed anatomical entity", - "nervous system cell part layer", - "abnormal pes morphology", - "aplasia or hypoplasia of uvea", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal anterior uvea morphology", - "abnormal artery morphology in the independent continuant", - "abnormal penis morphology", - "abnormal cranium morphology", - "Abnormality iris morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "Abnormal uvea morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", "malformed anatomical entity", - "circulatory organ", - "uvea", + "subdivision of organism along main body axis", + "formed anterior chamber of eyeball", "Abnormal hip joint morphology", "aplasia or hypoplasia of eyeball of camera-type eye", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", + "fused digit and digit", + "decreased length of organ", + "formed multicellular anatomical structure", + "iris phenotype", + "decreased qualitatively multicellular organismal reproductive process", + "formed anatomical structure", + "formed material anatomical entity", + "decreased length of mesoderm-derived structure", + "systemic arterial system", + "Abnormal cerebral morphology", + "palatine uvula phenotype", + "Joint dislocation", + "Abnormal uvea morphology", + "Abnormality iris morphology", + "circulatory organ", + "uvea", + "anatomical collection", + "Macule", "increased biological_process in skin of body", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "integument", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", - "abnormal cardiac valve morphology", + "posterior nasal aperture atresia", + "cerebral hemisphere morphology phenotype", + "Hypospadias", + "fused manual digit and anatomical entity", + "decreased size of the multicellular anatomical structure", + "musculature", "Localized skin lesion", "Abnormal 5th finger morphology", "Abnormal thumb morphology", "aplasia or hypoplasia of ulna", - "increased pigmentation in independent continuant", - "manual digit bone", - "abnormal biological_process in independent continuant", - "non-functional kidney", - "decreased size of the anatomical entity", - "Abnormal cerebral cortex morphology", - "forebrain", - "increased qualitatively biological_process", - "abnormal cell morphology", - "anatomical collection", - "Macule", - "abnormal cornea, curved", - "pigmentation", - "eyeball of camera-type eye", - "abnormal upper urinary tract", - "abnormal skin of body", - "Abnormality of skin morphology", - "abnormality of kidney physiology", - "changed biological_process rate in independent continuant", - "abnormal asymmetry of face", - "abnormal integument", - "abnormal manus", - "abnormal manus morphology", - "Aplasia/hypoplasia involving bones of the hand", + "Abnormal size of the palpebral fissures", + "autopod region phenotype", + "Finger clinodactyly", + "anatomical entity morphology in the manus phenotype", + "manual digit", + "skeleton phenotype", + "manus morphology phenotype", + "number of anatomical enitites of type anatomical structure phenotype", "skeleton of manus", - "Aplasia/Hypoplasia of fingers", - "abnormal cardiac valve morphology in the heart", + "segment of manus", + "vascular system", + "aplasia or hypoplasia of skeleton", "Abnormality of the hand", + "bone of hip region", + "external ear morphology phenotype", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "Aplasia/hypoplasia involving bones of the hand", + "amniotic fluid", + "anatomical entity morphology in the pectoral complex phenotype", + "neural crest-derived structure phenotype", + "manual digit morphology in the manus phenotype", "decreased pigmentation in skin of body", + "incomplete closing of the anatomical conduit", "Abnormal finger morphology", - "vascular system", - "abnormal anterior segment of eyeball morphology", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", "Aplasia/hypoplasia involving the skeleton", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", - "male reproductive system", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "appendage", - "abnormally fused digit and digit", - "Clinodactyly of the 5th finger", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", + "fused digit and anatomical entity", + "anatomical entity mass density phenotype", + "pelvic girdle bone/zone", + "eye movement phenotype", + "respiratory system phenotype", + "Abnormality of bone mineral density", + "brain ventricle/choroid plexus phenotype", + "bone element mass density phenotype", "biogenic amine secreting cell", "ossification", - "Abnormality of bone mineral density", - "cardiac chamber", - "abnormal spatial pattern of anatomical entity", - "abnormal late embryo", - "Deviation of the hand or of fingers of the hand", "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of digit towards the middle", + "digit 1 or 5", + "cranial nerve related reflex", + "manual digit 5 morphology phenotype", + "manual digit 5", + "spatial pattern of anatomical entity phenotype", + "digit 1 or 5 phenotype", + "digit 5 plus metapodial segment", + "digestive system", + "decreased length of endochondral bone", + "Deviation of the hand or of fingers of the hand", "appendicular skeletal system", - "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", "deviation of manual digit", - "trunk", - "manual digit 5 plus metapodial segment", - "digit 1 or 5", - "manual digit 5", - "hypertrophic multicellular anatomical structure", - "dermal skeletal element", - "decreased length of anatomical entity in independent continuant", + "decreased functionality of the organ part", + "upper limb segment phenotype", + "decreased length of bone element", + "ulna phenotype", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "organ phenotype", + "Forearm undergrowth", + "genitourinary system", + "Limb undergrowth", + "decreased size of the forelimb endochondral element", + "cardiac ventricle morphology in the heart phenotype", + "decreased size of the anatomical entity", + "Upper limb undergrowth", + "decreased length of material anatomical entity", + "decreased length of skeletal element", + "decreased size of the long bone", + "decreased size of the material anatomical entity", + "decreased size of the endochondral bone", + "Hematological neoplasm", + "decreased size of the organ", + "ulna hypoplasia", + "head bone phenotype", + "decreased size of the bone of pectoral complex", + "Short long bone", + "decreased length of bone of free limb or fin", + "decreased size of the bone of free limb or fin", + "increased response to external stimulus", + "forelimb zeugopod bone hypoplasia", + "forelimb long bone phenotype", "paired limb/fin skeleton", + "respiratory system physiology phenotype", "Abnormal nervous system physiology", "Hypoplasia of the ulna", - "Upper limb undergrowth", - "forelimb zeugopod bone hypoplasia", - "abnormal incomplete closing of the interatrial septum", - "intestine", - "Decreased multicellular organism mass", - "Aplasia/Hypoplasia of the ulna", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", + "decreased size of the bone element", "Short forearm", + "decreased length of limb endochondral element", + "decreased size of the anatomical entity in the pectoral complex", + "decreased size of the bone of appendage girdle complex", + "increased length of the zone of skin", "Aplasia/hypoplasia involving forearm bones", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "increased height of the secondary palate", - "Tetralogy of Fallot", - "Forearm undergrowth", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", + "Cardiomyopathy", + "flat bone", + "pelvic region element", + "Hyperpigmentation of the skin", + "limb joint", + "anatomical conduit atresia", + "joint of girdle", + "manus phenotype", + "hindlimb joint phenotype", + "zone of bone organ", + "skeletal joint", + "articulation phenotype", "Micrognathia", "anatomical entity dislocation", - "Abnormal localization of kidney", - "abnormal skeletal joint morphology", - "articulation", - "cerebral hemisphere gray matter", - "skin of body", - "abnormal pelvic girdle bone/zone morphology", - "skeletal joint dislocation", - "peripheral nervous system", - "abnormal hip joint morphology", - "articular system", - "abnormal embryonic tissue morphology", - "zone of bone organ", - "Abnormal hip bone morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", - "stylopod", - "upper leg bone", - "abnormal femur morphology", - "abnormal hindlimb stylopod morphology", - "dentary", - "femur endochondral element", - "Abnormality of femur morphology", - "Abnormality of enteric ganglion morphology", - "abnormal intestine morphology", - "abnormal face morphology", - "axial skeletal system", - "autonomic ganglion", - "enteric ganglion", - "parasympathetic ganglion", - "enteric nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "autonomic nervous system", - "Unusual infection", - "abnormal enteric ganglion morphology", - "neurocranium bone", - "parasympathetic nervous system", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal autonomic nervous system morphology" + "skeletal joint dislocation" ], "has_phenotype_count": 106, "highlight": null, "score": null }, + { + "id": "MONDO:1011502", + "category": "biolink:Disease", + "name": "Fanconi syndrome, cattle", + "full_name": null, + "deprecated": null, + "description": "Fanconi syndrome that occurs in cattle.", + "xref": ["OMIA:000366-9913"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": null, + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, { "id": "MONDO:0001083", "category": "biolink:Disease", @@ -3427,10 +4064,12 @@ "xref": [ "DOID:1062", "GARD:9120", + "MEDGEN:4653", "MESH:D005198", "NANDO:2100027", "NANDO:2200187", "NCIT:C3034", + "SCTID:236466005", "SCTID:40488004", "UMLS:C0015624" ], @@ -3455,10 +4094,10 @@ "uri": null, "iri": null, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": 0, "highlight": null, "score": null @@ -3472,6 +4111,7 @@ "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", "xref": [ "DOID:0090066", + "MEDGEN:56237", "MESH:C536855", "OMIM:227850", "SCTID:236469003", @@ -3486,451 +4126,488 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0002754", - "HP:0002783", "HP:0005939", + "HP:0002754", "HP:0001876", + "HP:0002783", "HP:0007606" ], "has_phenotype_label": [ - "Osteomyelitis", - "Recurrent lower respiratory tract infections", "Multiple bilateral pneumothoraces", + "Osteomyelitis", "Pancytopenia", + "Recurrent lower respiratory tract infections", "Multiple cutaneous malignancies" ], "has_phenotype_closure": [ - "HP:0002664", + "UPHENO:3000003", + "HP:0001574", "UBERON:0004121", - "UPHENO:0002635", + "HP:0011793", + "HP:0007606", "UBERON:0002097", "UBERON:0002199", "UBERON:0002416", - "HP:0001574", - "HP:0007606", - "HP:0011793", - "UBERON:0000479", - "UPHENO:0084987", + "UPHENO:0002635", + "HP:0002664", + "HP:0032101", + "HP:0011947", + "HP:0002783", + "HP:0002719", "UPHENO:0011498", - "HP:0025354", - "UPHENO:0085118", "UPHENO:0086172", - "UPHENO:0085144", - "HP:0001876", - "UBERON:0002371", - "UPHENO:0085302", - "HP:0032251", - "CL:0002242", - "CL:0001035", - "UBERON:0002193", - "CL:0000225", - "HP:0011873", - "CL:0000151", - "CL:0000255", - "UPHENO:0077426", - "UPHENO:0086173", - "HP:0011893", - "HP:0020047", - "UPHENO:0085195", - "HP:0001872", - "UPHENO:0063722", - "CL:0000219", - "UPHENO:0086005", - "UPHENO:0084928", - "UPHENO:0085068", - "UPHENO:0006910", - "UPHENO:0086049", - "UPHENO:0085984", - "UPHENO:0076675", - "CL:0000232", - "CL:0000458", - "CL:0000763", + "UPHENO:0080010", "CL:0000738", - "UPHENO:0086045", - "HP:0005561", - "UPHENO:0087355", + "UBERON:0000479", "UPHENO:0087123", "HP:0011842", + "UPHENO:0063794", + "HP:0011873", + "CL:0000151", + "UPHENO:0077418", "CL:0002092", - "HP:0012145", + "CL:0000232", + "UPHENO:0076675", + "HP:0005561", "CL:0000233", "UPHENO:0004459", + "UPHENO:0063787", + "HP:0001876", + "CL:0000763", + "CL:0000458", + "UBERON:0002371", + "UBERON:0002193", + "CL:0001035", + "CL:0000255", + "CL:0002242", + "CL:0000219", + "CL:0000225", + "UPHENO:0002554", + "UPHENO:0085302", "HP:0011875", "UPHENO:0088166", "UPHENO:0076703", "CL:0000457", "UPHENO:0085371", - "HP:0002107", - "NCBITaxon:6072", + "UPHENO:0077391", + "HP:0032251", + "HP:0012145", + "UPHENO:0086173", + "HP:0025354", + "UPHENO:0002548", + "HP:0011893", + "HP:0020047", + "UPHENO:0011536", + "HP:0001872", + "UPHENO:0063722", + "UPHENO:0011531", + "UPHENO:0074682", + "UBERON:0001015", + "UBERON:0000383", + "UBERON:0003103", + "UPHENO:0076692", + "CL:0000081", + "UBERON:0009569", + "UBERON:0004119", + "BFO:0000001", "HP:0008069", "UBERON:0001474", "HP:0005939", - "BFO:0000040", - "UPHENO:0074624", - "UBERON:0015212", - "NCBITaxon:33154", - "UBERON:0010000", - "HP:0010978", - "HP:0002754", - "UPHENO:0002964", - "HP:0000951", - "HP:0012252", - "UPHENO:0083263", - "UBERON:0000468", - "UPHENO:0001005", - "BFO:0000020", - "UBERON:0002204", - "UPHENO:0002536", - "UPHENO:0002448", - "HP:0000118", - "UBERON:0001062", - "UPHENO:0080377", - "UBERON:0000042", - "UPHENO:0080693", - "UPHENO:0074687", - "UBERON:0004120", - "UPHENO:0080662", - "UPHENO:0049587", - "UPHENO:0081440", - "UBERON:0004765", - "UBERON:0034923", - "UBERON:0000481", - "UPHENO:0080221", - "UPHENO:0074685", - "UPHENO:0001002", - "CL:0000000", - "UPHENO:0054970", - "HP:0002719", - "HP:0011843", - "HP:0002088", - "BFO:0000002", - "PATO:0000001", - "UBERON:0000915", - "UBERON:0000061", - "HP:0001881", - "UPHENO:0085344", - "HP:0002205", - "UBERON:0000065", - "UPHENO:0003811", - "UPHENO:0082682", - "BFO:0000004", - "UBERON:0001005", - "UPHENO:0001001", - "UPHENO:0086908", - "UPHENO:0002263", - "UPHENO:0001003", - "UBERON:0002390", - "GO:0006954", - "GO:0006952", - "HP:0002715", - "UBERON:0000025", - "CL:0000329", - "HP:0012647", - "UPHENO:0081590", - "UPHENO:0002332", - "HP:0033127", "BFO:0000015", "CL:0000988", "UBERON:0000465", - "UBERON:0000064", - "BFO:0000001", - "UBERON:0015203", - "UBERON:0005906", - "UPHENO:0059829", - "UBERON:0002405", - "NCBITaxon:2759", + "UPHENO:0002963", + "BFO:0000020", + "UBERON:0010000", + "HP:0002205", + "UPHENO:0085344", + "HP:0001881", + "UBERON:0000065", + "UBERON:0000061", + "OBI:0100026", + "UBERON:0000171", + "UBERON:0000481", + "UBERON:0000468", + "UPHENO:0083263", "CL:0000764", - "UPHENO:0074572", "NCBITaxon:1", - "UBERON:0001434", - "UBERON:0000467", - "UBERON:0002100", - "UBERON:0011216", - "UPHENO:0082875", - "UPHENO:0002948", - "UPHENO:0049588", - "UBERON:0002048", - "UPHENO:0076684", - "UBERON:0001558", - "HP:0032101", - "HP:0001871", - "UPHENO:0049586", - "UPHENO:0075696", - "HP:0002103", - "UBERON:0000171", - "UBERON:0005177", - "UPHENO:0085070", - "UPHENO:0076692", - "UBERON:0001004", - "UBERON:0013522", - "BFO:0000003", - "PR:000050567", + "UPHENO:0002530", + "UBERON:0005906", + "UBERON:0015203", + "UBERON:0011676", + "UBERON:0000072", + "UPHENO:0002267", "UBERON:0013701", - "CL:0000081", - "UBERON:0009569", - "HP:0002086", - "HP:0002783", - "UBERON:0004119", - "UBERON:0000170", - "HP:0001873", - "UBERON:0013702", - "UPHENO:0019970", + "GO:0006952", + "UPHENO:0002525", "GO:0008150", "HP:0002795", - "UPHENO:0004536", "UBERON:0005181", - "UPHENO:0085189", "HP:0025461", "NCBITaxon:33208", "UBERON:0000077", - "UBERON:0002075", - "UPHENO:0087339", - "UPHENO:0087433", - "UPHENO:0082723", - "UPHENO:0015280", - "UPHENO:0020748", - "UBERON:0000475", - "HP:0011947", - "OBI:0100026", - "UPHENO:0020584", - "UBERON:0011676", - "UBERON:0000072", + "NCBITaxon:33154", + "UBERON:0015212", + "BFO:0000040", + "UPHENO:0074624", + "UBERON:0000170", + "UBERON:0034925", + "UBERON:0000064", + "UBERON:0001062", + "UBERON:0000042", + "UPHENO:0077373", + "UPHENO:0080377", + "HP:0001873", + "UBERON:0013702", + "HP:0000118", "HP:0000001", "UBERON:0004111", "UBERON:0005178", - "UBERON:0034925", - "UBERON:0003103", - "UPHENO:0049584", - "GO:0050896", - "HP:0012649", - "UBERON:0000060", + "UPHENO:0081581", "UBERON:0000062", + "UPHENO:0002269", + "UPHENO:0002536", + "UPHENO:0002448", + "HP:0033127", + "UPHENO:0055024", + "HP:0002086", + "UPHENO:0002526", + "UPHENO:0004536", + "BFO:0000002", + "UBERON:0005177", + "HP:0002088", + "UPHENO:0002816", + "HP:0011843", "UBERON:0009778", + "UBERON:0002075", + "NCBITaxon:6072", + "UPHENO:0001003", + "UPHENO:0074681", + "BFO:0000004", + "UBERON:0001005", + "UBERON:0002048", + "UPHENO:0077348", + "UPHENO:0076684", + "UBERON:0001558", + "UPHENO:0087433", + "UBERON:0001004", + "HP:0000951", + "HP:0012252", + "NCBITaxon:2759", + "UBERON:0002405", + "UPHENO:0002964", + "HP:0002754", + "HP:0010978", + "UBERON:0000915", + "PATO:0000001", + "CL:0000000", + "UPHENO:0054970", + "UBERON:0000475", + "UBERON:0013522", + "HP:0002107", + "UPHENO:0082875", "HP:0010987", - "HP:0000924", "UBERON:0000977", + "HP:0000924", + "UBERON:0000025", + "HP:0002715", + "UBERON:0004765", + "UBERON:0034923", + "UPHENO:0081440", + "UPHENO:0002976", + "UPHENO:0074751", + "UBERON:0004120", + "UPHENO:0080662", + "UPHENO:0002385", + "UPHENO:0049587", + "UPHENO:0002948", + "UPHENO:0049588", + "UBERON:0000467", + "UBERON:0002100", + "UBERON:0011216", + "UPHENO:0005092", + "UPHENO:0080693", + "UPHENO:0074687", + "UPHENO:0001002", + "UPHENO:0049585", + "CL:0000329", + "UPHENO:0081590", + "HP:0012647", + "UPHENO:0003811", + "UPHENO:0002568", + "PR:000050567", + "BFO:0000003", + "NCBITaxon:131567", "GO:0006950", - "NCBITaxon:131567" + "UBERON:0000060", + "HP:0012649", + "GO:0050896", + "UPHENO:0049584", + "HP:0001871", + "HP:0002103", + "UPHENO:0049586", + "UPHENO:0001001", + "UPHENO:0002263", + "UBERON:0001434", + "UBERON:0002204", + "UBERON:0002390", + "GO:0006954" ], "has_phenotype_closure_label": [ - "Abnormality of the skin", - "Neoplasm by anatomical site", - "Neoplasm", - "integumental system", "Multiple cutaneous malignancies", "Neoplasm of the skin", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "bone marrow", - "cell", + "integument phenotype", + "Neoplasm", + "skin of body phenotype", + "Neoplasm by anatomical site", + "Respiratory tract infection", + "Recurrent lower respiratory tract infections", + "Recurrent infections", + "Unusual infection", "Abnormal immune system morphology", + "Abnormal platelet morphology", + "decreased number of hematopoietic cell", + "decreased number of cell", + "leukocyte", "Pancytopenia", - "serotonin secreting cell", - "abnormal myeloid cell morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormally decreased number of platelet", - "abnormal number of anatomical enitites of type platelet", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal platelet", "Abnormality of blood and blood-forming tissues", - "bone element", - "abnormal bone marrow cell morphology", - "abnormal leukocyte morphology", - "nucleate cell", - "oxygen accumulating cell", - "hemolymphoid system", - "hematopoietic cell", - "Abnormal leukocyte count", - "secretory cell", - "abnormal hematopoietic system morphology", + "Abnormal bone marrow cell morphology", + "number of platelet phenotype", + "number of myeloid cell phenotype", "Abnormal cellular phenotype", + "Abnormal myeloid cell morphology", + "secretory cell", + "Abnormal leukocyte count", + "cell phenotype", + "skeletal element", + "blood cell phenotype", + "cell", + "decreased number of anatomical structure", + "integumental system", + "immune system morphology phenotype", + "Abnormal skeletal morphology", + "number of hematopoietic cell phenotype", + "number of anatomical enitites of type material anatomical entity phenotype", "bone marrow cell", - "bone cell", - "Abnormality of bone marrow cell morphology", - "abnormal bone marrow cell", - "Abnormal cell morphology", - "abnormally decreased number of anatomical entity", - "platelet", "Abnormal cellular immune system morphology", "erythrocyte", - "leukocyte", - "abnormal bone marrow morphology", - "increased biological_process in bone element", - "non-connected functional system", - "increased qualitatively inflammatory response", - "subdivision of tube", - "Abnormal leukocyte morphology", - "response to stimulus", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "anatomical system", - "Abnormality of thrombocytes", - "organ", - "organism", - "abnormal platelet morphology", - "Abnormal platelet count", - "material anatomical entity", - "abnormal integument", - "abnormal biological_process", - "increased inflammatory response", - "abnormal number of anatomical enitites of type cell", - "increased inflammatory response in independent continuant", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "abnormal phenotype by ontology source", - "abnormality of musculoskeletal system physiology", - "trunk", - "phenotype", - "biogenic amine secreting cell", - "Abnormal musculoskeletal physiology", - "organ system subdivision", - "response to stress", - "ectoderm-derived structure", - "proximo-distal subdivision of respiratory tract", - "increased qualitatively biological_process", - "pleural sac", - "material entity", - "motile cell", - "independent continuant", - "Increased inflammatory response", - "quality", - "abnormal cell morphology", - "myeloid cell", - "immune system", - "root", - "Abnormal skeletal morphology", - "abnormal response to stimulus", - "Abnormal inflammatory response", - "abnormal inflammatory response", - "Thrombocytopenia", - "Abnormality of immune system physiology", - "increased qualitatively biological_process in independent continuant", - "viscus", - "occurrent", - "abnormal anatomical entity", - "entity", - "disconnected anatomical group", + "ectoderm-derived structure phenotype", + "hematopoietic system phenotype", + "platelet", + "Abnormal cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", + "serotonin secreting cell", + "hematopoietic cell", + "number of cell phenotype", + "bone marrow", + "decreased number of material anatomical entity", + "hemolymphoid system", + "bone cell", "integument", "eukaryotic cell", - "increased qualitatively inflammatory response in independent continuant", - "inflammatory response", - "specifically dependent continuant", - "biological_process", + "nucleate cell", + "anucleate cell", + "increased defense response in bone element", + "Abnormality of the respiratory system", + "oxygen accumulating cell", + "material anatomical entity phenotype", + "Phenotypic abnormality", + "Abnormal respiratory system physiology", + "organism", + "Abnormality of thrombocytes", + "organ", + "anatomical system", "tissue", "continuant", - "erythroid lineage cell", - "multicellular anatomical structure", - "abnormal skeletal system", - "increased biological_process", - "abnormal immune system morphology", - "Eumetazoa", - "defense response", + "thoracic segment of trunk", + "anatomical entity morphology phenotype", "Abnormality of the integument", "protein-containing material entity", + "multicellular organism", + "anatomical entity physiology phenotype", "skin of body", "skeletal system", - "abnormal skin of body", - "musculoskeletal system", - "Abnormal pleura morphology", + "Metazoa", + "trunk region element", + "blood cell", + "respiration organ", + "body proper", + "tube", + "Pneumothorax", + "increased response to stress in bone element", + "mesoderm-derived structure", + "decreased number of platelet", + "phenotypic effect", + "anatomical system physiology phenotype", + "neoplasm phenotype", + "Increased inflammatory response", + "decreased number of myeloid cell", + "thoracic cavity element", + "respiratory system morphology phenotype", + "anatomical entity", + "lateral structure", "hematopoietic system", "Abnormality of the skeletal system", - "increased qualitatively response to stimulus", - "anatomical structure", - "anatomical conduit", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "Eukaryota", - "abnormality of immune system physiology", - "Abnormal myeloid cell morphology", - "changed biological_process rate", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology", - "lateral structure", - "multicellular organism", - "anucleate cell", - "phenotype by ontology source", - "abnormal cell", - "Abnormal respiratory system physiology", - "Osteomyelitis", - "increased inflammatory response in bone element", - "abnormally decreased number of myeloid cell", + "cellular organisms", + "Opisthokonta", + "mixed endoderm/mesoderm-derived structure", + "ectoderm-derived structure", + "proximo-distal subdivision of respiratory tract", + "entity", + "disconnected anatomical group", + "Abnormal platelet count", + "material anatomical entity", "compound organ", - "anatomical entity", - "body proper", - "blood cell", - "respiration organ", - "pair of lungs", - "trunk region element", - "thoracic segment organ", - "anatomical collection", - "abnormal respiratory system morphology", - "main body axis", - "abnormally decreased number of hematopoietic cell", + "increased inflammatory response in bone element", + "organ phenotype", + "pleura morphology phenotype", + "pleural sac", + "increased qualitatively biological_process", + "mesoderm-derived structure phenotype", + "bone element", + "anatomical entity phenotype", + "anatomical structure physiology phenotype", + "Eukaryota", + "Abnormality of the musculoskeletal system", "serous membrane", - "abnormal biological_process in independent continuant", - "Unusual infection", - "Abnormality of the immune system", + "multicellular organism morphology phenotype", + "respiratory system phenotype", + "material entity", "multi-tissue structure", - "Metazoa", - "abnormal blood cell", - "abnormal response to stress", + "Abnormality of the immune system", + "phenotype", + "Abnormal pleura morphology", + "musculoskeletal system", + "quality", + "endoderm-derived structure", + "multicellular anatomical structure phenotype", + "defense response", + "Eumetazoa", + "material anatomical entity physiology phenotype", + "Multiple bilateral pneumothoraces", + "Recurrent respiratory infections", + "respiratory system", + "response to stress phenotype", "subdivision of trunk", "Abnormal respiratory system morphology", "organ part", - "Recurrent respiratory infections", - "respiratory system", - "Multiple bilateral pneumothoraces", - "All", - "abnormal lung morphology", - "tube", - "Pneumothorax", - "Recurrent infections", - "abnormally decreased number of cell", - "abnormal immune system", - "thoracic segment of trunk", - "abnormal respiratory system", "Abnormality of multiple cell lineages in the bone marrow", - "abnormal number of anatomical enitites of type anatomical entity", + "leukocyte morphology phenotype", "serous sac", - "Abnormality of the respiratory system", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Recurrent lower respiratory tract infections", - "endoderm-derived structure", - "subdivision of organism along main body axis", - "lung", - "respiratory airway", - "thoracic cavity element", - "abnormal anatomical entity morphology in the independent continuant", - "organism subdivision", - "respiratory tract", - "abnormality of respiratory system physiology", - "cellular organisms", - "Opisthokonta", - "Abnormal lung morphology", - "Respiratory tract infection", - "lower respiratory tract", - "anatomical wall", - "abnormality of anatomical entity physiology", - "abnormal pleura morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "mixed endoderm/mesoderm-derived structure", - "process", - "pleura", - "mesoderm-derived structure", - "skeletal element" - ], + "erythroid lineage cell", + "multicellular anatomical structure", + "taxon specific phenotype", + "anatomical collection", + "biological_process rate phenotype", + "thoracic segment organ", + "biogenic amine secreting cell", + "Abnormal musculoskeletal physiology", + "decreased number of anatomical entity", + "viscus", + "anatomical structure", + "musculoskeletal system phenotype", + "anatomical conduit", + "musculature", + "increased qualitatively response to stimulus", + "Thrombocytopenia", + "Abnormality of immune system physiology", + "trunk", + "myeloid cell", + "root", + "immune system", + "response to stress", + "organ system subdivision", + "All", + "Abnormal lung morphology", + "motile cell", + "independent continuant", + "number of anatomical enitites of type anatomical entity phenotype", + "respiratory tract", + "organism subdivision", + "main body axis", + "biological_process phenotype", + "anatomical structure phenotype", + "defense response phenotype", + "respiratory airway", + "lower respiratory tract", + "anatomical wall", + "subdivision of tube", + "non-connected functional system", + "increased qualitatively inflammatory response", + "respiratory system physiology phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "lung", + "increased inflammatory response", + "Abnormal inflammatory response", + "specifically dependent continuant", + "inflammatory response", + "increased response to stimulus in bone element", + "Osteomyelitis", + "biological_process", + "increased biological_process in bone element", + "skeletal system phenotype", + "inflammatory response phenotype", + "anatomical system phenotype", + "musculature phenotype", + "Abnormal leukocyte morphology", + "response to stimulus", + "platelet phenotype", + "increased response to stimulus", + "immune system physiology phenotype", + "occurrent", + "pleura", + "process", + "Abnormality of the skin", + "musculature of body", + "organ system subdivision phenotype", + "response to stimulus phenotype", + "increased biological_process", + "immune system phenotype", + "pair of lungs", + "musculoskeletal system physiology phenotype" + ], "has_phenotype_count": 5, "highlight": null, "score": null }, + { + "id": "MONDO:0060779", + "category": "biolink:Disease", + "name": "acquired Fanconi syndrome", + "full_name": null, + "deprecated": null, + "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "xref": [ + "MEDGEN:90966", + "NCIT:C78296", + "SCTID:236467001", + "UMLS:C0341702" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": ["acquired Fanconi syndrome"], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, { "id": "MONDO:0060778", "category": "biolink:Disease", "name": "adult Fanconi syndrome", "full_name": null, "deprecated": null, - "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", - "xref": ["NCIT:C4377"], + "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.", + "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, @@ -3940,45 +4617,33 @@ "iri": null, "namespace": "MONDO", "has_phenotype": ["HP:0003581"], - "has_phenotype_label": ["Adult onset"], - "has_phenotype_closure": [ - "HP:0003674", - "HP:0012823", - "HP:0003581", - "HP:0000001", - "HP:0031797" - ], - "has_phenotype_closure_label": [ - "Clinical course", - "Onset", - "Clinical modifier", - "Adult onset", - "All" - ], + "has_phenotype_label": null, + "has_phenotype_closure": ["HP:0003581"], + "has_phenotype_closure_label": null, "has_phenotype_count": 1, "highlight": null, "score": null }, { - "id": "MONDO:0060779", + "id": "MONDO:1011504", "category": "biolink:Disease", - "name": "acquired Fanconi syndrome", + "name": "Fanconi syndrome, horse", "full_name": null, "deprecated": null, - "description": "Fanconi Syndrome caused by exposure to noxious agents.", - "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], + "description": "Fanconi syndrome that occurs in horse.", + "xref": ["OMIA:000366-9796"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": ["acquired Fanconi syndrome"], + "synonym": null, "uri": null, "iri": null, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, "has_phenotype_count": 0, "highlight": null, "score": null @@ -3990,7 +4655,13 @@ "full_name": null, "deprecated": null, "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.", - "xref": ["GARD:9118", "NCIT:C123229", "Orphanet:3337"], + "xref": [ + "GARD:9118", + "MEDGEN:341765", + "NCIT:C123229", + "Orphanet:3337", + "UMLS:C1857395" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, @@ -4004,17 +4675,14 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", "HP:0002749", + "HP:0000117", "HP:0003774", - "HP:0002150", - "HP:0001944", + "HP:0004918", "HP:0002206", "HP:0001943", + "HP:0002150", + "HP:0001944", "HP:0012622", "HP:0012606", "HP:0004912", @@ -4025,15391 +4693,12814 @@ "HP:0002659", "HP:0002653", "HP:0002148", + "HP:0001824", + "HP:0001324", "HP:0032943", - "HP:0004918", + "HP:0004910", "HP:0003646", "HP:0003149", "HP:0003126", "HP:0003076", "HP:0002909", - "HP:0002049" + "HP:0002049", + "HP:0001510" ], "has_phenotype_label": [ - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", "Osteomalacia", + "Renal phosphate wasting", "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", + "Hyperchloremic metabolic acidosis", "Pulmonary fibrosis", "Hypoglycemia", + "Hypercalciuria", + "Dehydration", "Chronic kidney disease", "Renal sodium wasting", "Hypophosphatemic rickets", "Hypouricemia", - "Decreased plasma carnitine", + "Decreased circulating carnitine concentration", "Increased urinary potassium", "Hypokalemia", "Increased susceptibility to fractures", "Bone pain", "Hypophosphatemia", + "Weight loss", + "Muscle weakness", "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", + "Bicarbonate-wasting renal tubular acidosis", "Bicarbonaturia", "Hyperuricosuria", "Low-molecular-weight proteinuria", "Glycosuria", "Generalized aminoaciduria", - "Proximal renal tubular acidosis" + "Proximal renal tubular acidosis", + "Growth delay" ], "has_phenotype_closure": [ - 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"UPHENO:0051801", + "UPHENO:0002422", + "UBERON:0002193", + "UPHENO:0089735", + "HP:0000924", + "UBERON:0000174", + "UPHENO:0066939", + "HP:0002086", + "HP:0003119", + "CHEBI:26401", + "UBERON:0000062", "CHEBI:32988", - "UBERON:0001285", - "UPHENO:0068565", - "UPHENO:0068247", - "CHEBI:50047", - "UPHENO:0080658", - "CHEBI:33709", - "UPHENO:0068091", - "UPHENO:0049618", - "UPHENO:0068144", - "UPHENO:0046286", - "UPHENO:0068495" - ], - "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "Abnormal circulating organic compound concentration", - "abnormal mitochondrion", - "molecular entity", - "heteroorganic entity", - "abnormal chemical homeostasis", - "abnormal urine organic anion level", - "Abnormal urine metabolite level", - "abnormal monocarboxylic acid metabolic process", - "primary metabolic process", - "abnormal blood glucose level", - "Decreased plasma carnitine", - "Abnormal lung morphology", - "proximo-distal subdivision of respiratory tract", - "abnormal homeostatic process", - "abnormal anatomical entity morphology in the independent continuant", - "thoracic cavity element", - "multicellular organism", - "respiratory airway", - "pair of lungs", - "regulation of biological quality", - "abnormal respiratory system", - "viscus", - "abnormal respiratory system morphology", - "monocarboxylic acid metabolic process", - "lung fibrosis", - "subdivision of tube", - "abnormality of multicellular organism mass", - "organic substance metabolic process", - "increased level of chemical entity", - "Abnormal cellular physiology", - "inorganic cation", - "epithelial tube", - "increased bodily fluid acid level", - "Bicarbonaturia", - "oxygen molecular entity", - "organooxygen compound", - "Abnormality of fluid regulation", - "Abnormality of the skeletal system", - "lung", - "abnormal independent continuant phosphate level", - "Hypercalciuria", - "s-block element atom", - "metal atom", - "uric acid", - "Stage 5 chronic kidney disease", - "Abnormal urinary electrolyte concentration", - "mesoderm-derived structure", - "non-functional anatomical entity", - "thoracic segment organ", - "skeletal system", - "hydrides", - "increased level of potassium atom in urine", - "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "bone element", - "Decreased bone element mass density", - "Decreased anatomical entity mass density", - "abnormal lung morphology", - "alkaline earth metal atom", - "Abnormal skeletal morphology", - "abnormal glucose homeostasis", - "decreased level of phosphate in independent continuant", - "mancude organic heterobicyclic parent", - "hemolymphoid system", - "delayed biological_process", - "oxoacid", - "carbohydrates and carbohydrate derivatives", - "thoracic segment of trunk", - "increased level of amino acid in independent continuant", - "abnormally decreased functionality of the anatomical entity", - "inorganic molecular entity", - "abdomen element", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Proteinuria", - "abnormal role bodily fluid level", - "abnormal lipid metabolic process", - "blood", - "Metabolic acidosis", - "increased level of glucose in independent continuant", - "aldose", - "lateral structure", - "abnormal phenotype by ontology source", - "abnormal growth", - "main group molecular entity", - "abnormality of renal system physiology", - "monosaccharide", - "nucleobase-containing small molecule metabolic process", - "hematopoietic system", - "purines", - "abnormal purine nucleobase metabolic process", - "heteroatomic molecular entity", - "abnormal genitourinary system", - "Abnormality of urine homeostasis", - "organ system subdivision", - "Aminoaciduria", - "abnormality of respiratory system physiology", - "abnormality of anatomical entity mass", - "polyatomic entity", - "trunk", - "metabolic process", - "carbon group molecular entity", - "carbohydrate metabolic process", - "Pulmonary fibrosis", - "abnormal independent continuant chemical entity level", - "abnormal skeletal system", - "Abnormal renal physiology", - "Weight loss", - "organic cyclic compound", - "Hyperchloremic acidosis", - "organ", - "occurrent", - "Hypoglycemia", - "decreased level of carnitine in independent continuant", - "Chronic kidney disease", - "material anatomical entity", - "muscle structure", - "aldohexose", - "subdivision of organism along main body axis", - "cellular anatomical entity", - "atom", - "genitourinary system", - "renal tubule", - "biological_process", - "increased bodily fluid role level", - "Decreased body weight", - "lipid", - "carbohydrate", - "renal system", - "oxopurine", - "respiratory system", - "abnormal sodium atom level", - "abnormal amino-acid betaine level", - "organochalcogen compound", - "Abnormal homeostasis", - "Abnormal muscle physiology", - "Increased susceptibility to fractures", - "Abnormal respiratory system physiology", - "potassium molecular entity", - "homeostatic process", - "abnormal carbohydrate metabolic process", - "p-block molecular entity", - "abnormal chemical entity level", - "Abnormality of metabolism/homeostasis", - "nephron", - "tissue", - "continuant", - "Abnormal circulating nucleobase concentration", - "protein polypeptide chain", - "monoatomic ion homeostasis", - "increased independent continuant role level", - "entity", - "subdivision of trunk", - "pnictogen molecular entity", - "Abnormality of the urinary system", - "Aciduria", - "Osteomalacia", - "Abnormality of the musculature", - "decreased role independent continuant level", - "ossification", - "abnormal carbohydrate homeostasis", - "increased level of calcium atom in urine", - "phosphorus oxoacid derivative", - "abnormal regulation of body fluid levels", - "excretory tube", - "compound organ", - "kidney epithelium", - "abnormal urine chemical entity level", - "phosphorus oxoacids and derivatives", - "Abnormal blood phosphate concentration", - "Abnormal bone structure", - "All", - "anatomical collection", - "Abnormality of the respiratory system", - "Abnormality of the urinary system physiology", - "increased level of potassium atom in independent continuant", - "excreta", - "abnormal metabolic process", - "organic oxo compound", - "abnormal acid bodily fluid level", - "regulation of body fluid levels", - "abnormal blood chemical entity level", - "decreased level of chemical entity", - "abnormal anatomical entity", - "Dehydration", - "polyatomic ion", - "Renal insufficiency", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "carboxylic acid metabolic process", - "phosphate", - "abnormal multicellular organism chemical entity level", - "alkali metal cation", - "phosphoric acid derivative", - "abnormal renal system", - "Abnormal circulating metabolite concentration", - "abnormal independent continuant calcium atom level", - "nucleobase", - "increased level of carboxylic acid in urine", - "abnormal musculature", - "hexose", - "multicellular anatomical structure", - "abnormal primary metabolic process", - "body proper", - "increased level of glucose in urine", - "organic acid", - "abnormal metabolite independent continuant level", - "excretory system", - "abnormal small molecule metabolic process", - "abnormal independent continuant monoatomic ion level", - "material entity", - "anatomical entity", - "Decreased multicellular organism mass", - "abnormal independent continuant organic anion level", - "monoatomic entity", - "uriniferous tubule", - "abnormal upper urinary tract", - "abnormal cellular metabolic process", - "musculoskeletal system", - "carnitine", - "cytoplasm", - "nephron epithelium", - "Abnormality of body weight", - "growth", - "heteropolycyclic compound", - "decreased muscle organ strength", - "bicyclic compound", - "cellular_component", - "abnormal monoatomic ion homeostasis", - "nephron tubule", - "hydrogen molecular entity", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "anatomical entity dysfunction in independent continuant", - "muscle organ", - "dipolar compound", - "Increased urinary potassium", - "ammonium betaine", - "increased level of uric acid in independent continuant", - "increased independent continuant base level", - "abnormal calcium atom level", - "musculature of body", - "Abnormality of the upper urinary tract", - "Bone pain", - "decreased anatomical entity strength", - "carbohydrate homeostasis", - "increased level of chemical entity in independent continuant", - "Renal tubular dysfunction", - "abnormal role independent continuant level", - "metal cation", - "decreased level of phosphate in blood", - "abnormal phosphate level", - "tube", - "organic aromatic compound", - "endoderm-derived structure", - "trunk region element", - "Abnormal pulmonary interstitial morphology", - "Renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", - "upper urinary tract", - "Abnormal respiratory system morphology", - "multicellular organismal process", - "abnormal blood phosphate level", - "obsolete cellular aromatic compound metabolic process", - "organ part", - "Muscle weakness", - "organism substance", - "Bicarbonate-wasting renal tubular acidosis", - "increased level of calcium atom in independent continuant", - "increased independent continuant acid level", - "biological regulation", - "abdominal segment of trunk", - "abnormal urine calcium atom level", - "abnormality of kidney physiology", - "epithelium", - "respiratory tract", - "organism subdivision", - "organic ion", - "phosphorus molecular entity", - "anatomical structure", - "Abnormal circulating carbohydrate concentration", - "musculature", - "calcium atom", - "decreased role blood level", - "anatomical conduit", - "Acidosis", - "purine", - "decreased anatomical entity mass", - "abdomen", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "skeletal element", - "cavitated compound organ", - "abnormal bone element mass density", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "Abnormal cellular phenotype", - "Abnormal glucose homeostasis", - "abnormal urine phosphate level", - "bodily fluid", - "glucose homeostasis", - "process", - "abnormal independent continuant glucose level", - "Abnormal blood glucose concentration", - "organonitrogen compound metabolic process", - "abnormal role urine level", - "haemolymphatic fluid", - "abnormal hematopoietic system", - "abnormal independent continuant sodium atom level", - "oxoacid derivative", - "Abnormal urine sodium concentration", - "lower respiratory tract", - "abnormal independent continuant nitrogen molecular entity level", - "sodium atom", - "Renal sodium wasting", - "delayed growth", - "decreased level of carnitine in blood", - "alkali metal atom", - "Abnormal musculoskeletal physiology", - "Abnormal urine potassium concentration", - "abnormal blood monoatomic ion level", - "intracellular anatomical structure", - "decreased level of uric acid in independent continuant", - "Azotemia", - "decreased level of chemical entity in blood", - "decreased level of chemical entity in independent continuant", - "Abnormality of mitochondrial metabolism", - "Decreased anatomical entity mass", - "inorganic ion homeostasis", - "Hypophosphatemia", - "Renal phosphate wasting", - "Abnormal circulating monocarboxylic acid concentration", - "Hypophosphatemic rickets", - "Abnormal blood ion concentration", - "elemental molecular entity", - "ion", - "fatty acid", - "Abnormality of urine calcium concentration", - "organic cyclic compound metabolic process", - "phosphate ion homeostasis", - "Hypouricemia", - "cellular metabolic process", - "obsolete nitrogen compound metabolic process", - "small molecule metabolic process", - "obsolete heterocycle metabolic process", - "non-functional kidney", - "heterocyclic organic fundamental parent", - "chemical entity", - "Abnormal circulating carboxylic acid concentration", - "abnormal nucleobase metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "nucleobase-containing compound metabolic process", - "Decreased circulating purine concentration", - "anatomical system", - "mitochondrion", - "abnormal independent continuant carnitine level", - "Hypokalemia", - "abnormal cellular process", - "Abnormal circulating carnitine concentration", - "mancude ring", - "elemental potassium", - "increased level of purines in independent continuant", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "decreased level of uric acid in blood", - "decreased multicellular organism mass", - "abnormal blood uric acid level", - "s-block molecular entity", - "Abnormal urine phosphate concentration", - "organic hydride", - "Abnormality of urinary uric acid level", - "aromatic compound", - "nitrogen molecular entity", - "polycyclic compound", - "respiration organ", - "abnormality of muscle organ physiology", - "organic molecule", - "cyclic compound", - "mancude organic heterocyclic parent", - "Abnormal circulating purine concentration", - "Abnormal urine protein level", - "cellular process", - "amino-acid betaine", - "increased level of organic acid in urine", - "phenotype", - "decreased level of potassium atom in independent continuant", - "nucleobase metabolic process", - "main group element atom", - "molecule", - "abnormal biological_process", - "kidney", - "Growth delay", - "organic mancude parent", - "Reduced bone mineral density", - "abnormal blood nitrogen molecular entity level", - "Abnormality of the kidney", - "abnormal independent continuant carbohydrate level", - "decreased level of purines", - "cation", - "purine nucleobase metabolic process", - "Abnormality of the genitourinary system", - "organic heterocyclic compound", - "heterobicyclic compound", - "abnormal independent continuant uric acid level", - "abnormal blood carnitine level", - "increased level of chemical entity in blood", - "heteroarene", - "organic molecular entity", - "abnormal anatomical entity mass density", - "increased level of organic molecular entity in independent continuant", - "organic heteropolycyclic compound", - "organonitrogen heterocyclic compound", - "abnormal fatty acid metabolic process", - "onium betaine", - "glucose", - "fatty acid anion", - "polyatomic anion", - "urine", - "Abnormality of acid-base homeostasis", - "quaternary nitrogen compound", - "increased level of monosaccharide in independent continuant", - "Hyperchloremic metabolic acidosis", - "amino acid derivative", - "cellular lipid metabolic process", - "cellular modified amino acid metabolic process", - "organic fundamental parent", - "organic acid metabolic process", - "lipid metabolic process", - "quality", - "carboxylic acid", - "abnormal amino acid derivative level", - "phenotype by ontology source", - "oxoanion", - "carboxylic acid anion", - "abnormal cellular_component", - "abnormal carboxylic acid metabolic process", - "Abnormal circulating nitrogen compound concentration", - "intracellular membrane-bounded organelle", - "oxide", - "organic anion", - "hydroxides", - "heterocyclic compound", - "abnormal cell", - "Abnormal circulating fatty-acid anion concentration", - "abnormal carnitine metabolic process", - "abnormal role blood level", - "organelle", - "Abnormal urine carboxylic acid level", - "Abnormal circulating fatty-acid concentration", - "fatty acid metabolic process", - "Abnormality of bone mineral density", - "organic heterobicyclic compound", - "hydrogencarbonate", - "oxoacid metabolic process", - "abnormal urine sodium atom level", - "carboxamide", - "Generalized aminoaciduria", - "amino-acid betaine metabolic process", - "intracellular organelle", - "membrane-bounded organelle", - "anion", - "decreased level of amino-acid betaine", - "Abnormality of the mitochondrion", - "primary amide", - "carnitine metabolic process", - "zwitterion", - "carbonyl compound", - "monocarboxylic acid anion", - "purine-containing compound metabolic process", - "carbon oxoacid", - "obsolete cell", - "Abnormal blood potassium concentration", - "cell", - "monocarboxylic acid", - "chalcogen molecular entity", - "abnormal potassium atom level", - "abnormal independent continuant potassium atom level", - "chemical homeostasis", - "main body axis", - "potassium atom", - "Abnormal bone ossification", - "abnormal urine potassium atom level", - "abnormal kidney", - "Abnormal blood cation concentration", - "Abnormal blood monovalent inorganic cation concentration", - "abnormal urine hydrogencarbonate level", - "alkali metal molecular entity", - "abnormal blood potassium atom level", - "monovalent inorganic cation", - "monoatomic monocation", - "monoatomic cation", - "increased level of nitrogen molecular entity in blood", - "abnormal monoatomic cation homeostasis", - "polypeptide", - "decreased level of potassium atom in blood", - "monoatomic cation homeostasis", - "inorganic ion", - "abnormal blood potassium(1+) level", - "potassium(1+)", - "Growth abnormality", - "abnormality of musculoskeletal system physiology", - "abnormal independent continuant carboxylic acid level", - "carbon oxoanion", - "Constitutional symptom", - "anatomical entity fibrosis", - "Pain", - "independent continuant", - "Abnormal urine pH", - "abnormal hydrogencarbonate level", - "increased level of hydrogencarbonate in urine", - "imidazopyrimidine", - "increased level of hydrogencarbonate in independent continuant", - "Abnormal urinary organic compound level", - "Abnormality of urine bicarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "Hyperuricosuria", - "Rickets", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal urine uric acid level", - "abnormal acid independent continuant level", - "organic amino compound", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "amide", - "increased level of protein polypeptide chain in independent continuant", - "increased level of protein polypeptide chain in urine", - "macromolecule", - "peptide", - "abnormal urine glucose level", - "increased level of monosaccharide in urine", - "abnormal amino acid level", - "increased level of uric acid in urine", - "increased level of amino acid in urine", - "monoatomic ion", - "abnormal urine amino acid level", - "Organic aciduria", - "increased level of organic acid in independent continuant", - "Elevated urinary carboxylic acid" - ], - "has_phenotype_count": 29, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0100238", - "category": "biolink:Disease", - "name": "inherited Fanconi renotubular syndrome", - "full_name": null, - "deprecated": null, - "description": "An instance of Fanconi renotubular syndrome that is inherited.", - "xref": ["OMIMPS:134600"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": ["hereditary Fanconi renotubular syndrome"], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0013247", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 2", - "full_name": null, - "deprecated": null, - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", - "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FRTS2", - "Fanconi renotubular syndrome 2", - "Fanconi renotubular syndrome type 2", - "Fanconi syndrome caused by mutation in SLC34A1", - "SLC34A1 Fanconi syndrome" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0000117", - "HP:0002749", - "HP:0002148", - "HP:0000114", - "HP:0002757", - "HP:0002748", - "HP:0000938", - "HP:0002909", - "HP:0031415", - "HP:0000093", - "HP:0003076", - "HP:0003165", - "HP:0004322", - "HP:0002653", - "HP:0012213", - "HP:0000083", - "HP:0002150" - ], - "has_phenotype_label": [ - "Renal phosphate wasting", - "Osteomalacia", - "Hypophosphatemia", - "Proximal tubulopathy", - "Recurrent fractures", - "Rickets", - "Osteopenia", - "Generalized aminoaciduria", - "High serum calcitriol", - "Proteinuria", - "Glycosuria", - "Elevated circulating parathyroid hormone level", - "Short stature", - "Bone pain", - "Decreased glomerular filtration rate", - "Renal insufficiency", - "Hypercalciuria" - ], - "has_phenotype_closure": [ - "HP:0011280", - "UPHENO:0068134", - "UPHENO:0046344", - "HP:0002150", - "UPHENO:0051678", - "HP:0025142", - "UPHENO:0020584", - "GO:0040007", - "HP:0004322", - "UPHENO:0049874", - "UPHENO:0081424", - "UPHENO:0000541", - "HP:0001510", - "UPHENO:0069254", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0075159", - "UPHENO:0051936", - "HP:0012337", - "UPHENO:0077826", - "HP:0001948", - "UPHENO:0068174", - "UPHENO:0051648", - "UPHENO:0068971", - "CHEBI:33695", - "UPHENO:0051741", - "UPHENO:0082943", - "PR:000064867", - "UPHENO:0068477", - "CHEBI:33694", - "UBERON:0001969", - "UPHENO:0082536", - "UPHENO:0068472", - "UPHENO:0068068", - "HP:0002152", - "HP:0004360", - "UPHENO:0068442", - "PR:000018263", - "PR:000000001", - "UPHENO:0068104", - "UPHENO:0081550", - "HP:0012212", - "UBERON:0001977", - "UPHENO:0051635", - "UPHENO:0080658", - "UPHENO:0068054", - "HP:6000531", - "CHEBI:33917", - "CHEBI:18133", - "CHEBI:17234", - "HP:0010876", - "CHEBI:35381", - "UPHENO:0052116", - "UPHENO:0068247", - "UPHENO:0068565", - "CHEBI:16541", - "CHEBI:32988", - "UPHENO:0051801", - "CHEBI:15841", - "CHEBI:16670", - "PR:000013429", - "HP:0100508", - "UPHENO:0049873", - "UBERON:0034923", - "UPHENO:0051628", - "UPHENO:0068047", - "HP:0000818", - "CHEBI:26191", - "CHEBI:35350", - "CHEBI:22313", - "CHEBI:51958", - "UPHENO:0081547", - 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"HP:0012211", - "HP:0033331", - "UBERON:0006555", - "UPHENO:0024906", - "UPHENO:0002411", - "UPHENO:0051864", - "UBERON:0000916", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0009773", - "UPHENO:0052038", - "UBERON:0005172", - "UBERON:0002390", - "HP:0001992", - "HP:0003117", - "UPHENO:0051709", - "UBERON:0010000", - "UPHENO:0066943", - "UBERON:0000479", - "UBERON:0000475", - "UPHENO:0076293", - "HP:0032245", - "HP:0002757", - "HP:0002659", - "HP:0011843", - "UBERON:0002204", - "UPHENO:0081440", - "HP:0032943", - "UPHENO:0002832", - "UPHENO:0002803", - "HP:0002748", - "HP:0000938", - "UPHENO:0049723", - "CHEBI:22984", - "UBERON:0000463", - "CHEBI:26020", - "HP:0040156", - "CHEBI:25367", - "CHEBI:33285", - "UBERON:0000465", - "CHEBI:33582", - "HP:0031980", - "CHEBI:33559", - "UPHENO:0051930", - "HP:0003355", - "UPHENO:0068144", - "CHEBI:33608", - "UPHENO:0046286", - "UPHENO:0001002", - "HP:0100511", - "UPHENO:0082540", - "UPHENO:0076289", - "HP:0012072", - "UPHENO:0046281", - "UPHENO:0076287", - "CHEBI:25806", - "CHEBI:36962", - "CHEBI:50860", - "UPHENO:0079534", - "UPHENO:0051900", - "UPHENO:0051739", - "UBERON:0003914", - "UPHENO:0079536", - "CHEBI:64709", - "UPHENO:0068058", - "UPHENO:0068313", - "CHEBI:33674", - "CHEBI:36587", - "UPHENO:0068384", - "UBERON:0001008", - "CHEBI:24833", - "HP:0000002", - "HP:0002157", - "HP:0033354", - "CHEBI:33521", - "UPHENO:0082541", - "CHEBI:36586", - "UPHENO:0051612", - "UPHENO:0068089", - "UPHENO:0051670", - "CHEBI:33575", - "CHEBI:50047", - "UPHENO:0068251", - "GO:0008202", - "UPHENO:0082834", - "GO:0042359", - "UPHENO:0068102", - "UPHENO:0000543", - "HP:0003076", - "CHEBI:27300", - "GO:0006629", - "GO:1901615", - "UBERON:0000178", - "GO:0006766", - "UPHENO:0001001", - "GO:0044238", - "UPHENO:0081423", - "UPHENO:0002642", - "HP:0002909", - "UBERON:0015203", - "UPHENO:0051712", - "UPHENO:0086128", - "UPHENO:0049587", - "CHEBI:33595", - "CHEBI:18059", - "UPHENO:0048711" - ], - "has_phenotype_closure_label": [ - "alkaline earth metal atom", - "Hypercalciuria", - "s-block element atom", - "main group element atom", - "increased level of calcium atom in independent continuant", - "Abnormality of urine calcium concentration", - "abnormal calcium atom level", - "atom", - "Renal insufficiency", - "non-functional kidney", - "Abnormal glomerular filtration rate", - "Decreased glomerular filtration rate", - "Pain", - "Constitutional symptom", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the independent continuant", - "delayed growth", - "Growth delay", - "growth", - "abnormal urine calcium atom level", - "decreased size of the anatomical entity in the independent continuant", - "metal atom", - "abnormality of anatomical entity height", - "Growth abnormality", - "Hyperproteinemia", - "Abnormal circulating nitrogen compound concentration", - "increased level of protein", - "Abnormal circulating organic amino compound concentration", - "protein", - "increased level of parathyroid hormone in independent continuant", - "calcium atom", - "increased blood serum role level", - "increased level of chemical entity in blood serum", - "abnormal blood serum chemical entity level", - "Elevated circulating parathyroid hormone level", - "parathyroid hormone", - "increased level of nitrogen molecular entity in blood", - "abnormal independent continuant protein level", - "abnormal role blood serum level", - "blood serum", - "increased level of protein in blood", - "Alkalosis", - "blood plasma", - "increased level of calcium atom in urine", - "abnormal blood protein polypeptide chain level", - "abnormal blood parathyroid hormone level", - "Acute phase response", - "abnormal acid bodily fluid level", - "Abnormality of acid-base homeostasis", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", - "increased level of monosaccharide in urine", - "abnormal urine glucose level", - "aldohexose", - "glucose", - "aldose", - "hexose", - "monosaccharide", - "peptide", - "macromolecule", - "increased level of protein polypeptide chain in urine", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "abnormal independent continuant protein polypeptide chain level", - "abnormal lipid level", - "Abnormality of vitamin metabolism", - "calcitriol", - "increased level of chemical entity in blood", - "Abnormal urine protein level", - "abnormal hormone blood level", - "increased blood role level", - "abnormal vitamin D metabolic process", - "increased level of parathyroid hormone in blood", - "hydroxy steroid", - "abnormal vitamin D level", - "vitamin D metabolic process", - "steroid metabolic process", - "abnormal hormone independent continuant level", - "Abnormal circulating hormone concentration", - "trunk region element", - "Renal tubular dysfunction", - "abnormal homeostatic process", - "abnormal monoatomic ion homeostasis", - "Abnormality of metabolism/homeostasis", - "non-functional anatomical entity", - "Osteopenia", - "abnormal role blood level", - "main body axis", - "Abnormal circulating calcium-phosphate regulating hormone concentration", - "seco-steroid", - "bodily fluid", - "abnormal urine phosphate level", - "abdomen element", - "Hypophosphatemia", - "monoatomic ion", - "abnormal blood chemical entity level", - "monoatomic entity", - "abnormal acid independent continuant level", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "abnormal blood plasma chemical entity level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "organism substance", - "primary amide", - "elemental molecular entity", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", - "skeletal system", - "phosphate ion homeostasis", - "decreased size of the anatomical entity", - "blood", - "abnormal size of multicellular organism", - "bone element", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "abnormal anatomical entity mass density", - "epithelium", - "abnormal protein level", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "Alkalemia", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "increased blood serum base level", - "abnormal blood phosphate level", - "multicellular organismal process", - "organ part", - "abnormal bone element mass density", - "chemical homeostasis", - "glandular system", - "primary metabolic process", - "skeletal element", - "cavitated compound organ", - "increased level of lipid in blood", - "uriniferous tubule", - "anatomical entity", - "material entity", - "organic amino compound", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "increased bodily fluid base level", - "increased level of glucose in urine", - "body proper", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "Elevated urinary carboxylic acid", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "increased level of monosaccharide in independent continuant", - "D3 vitamins", - "multicellular anatomical structure", - "haemolymphatic fluid", - "abnormal skeletal system", - "abnormal blood nitrogen molecular entity level", - "increased level of lipid", - "organic hydroxy compound metabolic process", - "Bone pain", - "Abnormality of the upper urinary tract", - "vitamin D", - "abnormal small molecule metabolic process", - "abnormal renal system", - "abnormal multicellular organism chemical entity level", - "phosphate", - "non-connected functional system", - "Azotemia", - "abnormal blood monoatomic ion level", - "Abnormal urine metabolite level", - "process", - "abnormal role independent continuant level", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "hydroxycalciol", - "Abnormality of the urinary system physiology", - "All", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "Abnormal circulating lipid concentration", - "Phenotypic abnormality", - "information biomacromolecule", - "Glycosuria", - "Abnormal bone ossification", - "abdominal segment element", - "pnictogen molecular entity", - "hematopoietic system", - "multicellular organism", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "increased level of parathyroid hormone in blood serum", - "Abnormal circulating protein concentration", - "entity", - "abnormal blood lipid level", - "monoatomic ion homeostasis", - "abnormal urine chemical entity level", - "protein polypeptide chain", - "continuant", - "nephron", - "amino acid chain", - "tissue", - "biomacromolecule", - "p-block molecular entity", - "triol", - "increased level of amino acid in independent continuant", - "homeostatic process", - "Abnormal homeostasis", - "Increased susceptibility to fractures", - "organochalcogen compound", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "carbon oxoacid", - "Organic aciduria", - "Abnormal metabolism", - "increased level of calcitriol in independent continuant", - "abnormal upper urinary tract", - "musculoskeletal system", - "fat-soluble vitamin metabolic process", - "hydrogen molecular entity", - "nephron tubule", - "Abnormality of vitamin D metabolism", - "increased level of protein in independent continuant", - "renal system", - "phenotype", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "Hyperlipidemia", - "genitourinary system", - "organic cyclic compound", - "Abnormal bone structure", - "anatomical system", - "chemical entity", - "polyol", - "increased independent continuant acid level", - "subdivision of organism along main body axis", - "small molecule metabolic process", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "occurrent", - "organ", - "delayed biological_process", - "Osteomalacia", - "oxoacid", - "abnormal independent continuant chemical entity level", - "carbon group molecular entity", - "metabolic process", - "oxoacid derivative", - "trunk", - "abnormality of musculoskeletal system physiology", - "abnormal role bodily fluid level", - "abnormal biological_process", - "Recurrent fractures", - "carbonyl compound", - "abnormal chemical entity level", - "polyatomic entity", - "abnormal chemical homeostasis", - "Aminoaciduria", - "organ system subdivision", - "abnormal genitourinary system", - "heteroatomic molecular entity", - "decreased level of phosphate in independent continuant", - "Abnormal skeletal morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "urine", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "abnormal growth", - "independent continuant", - "ion", - "organic cyclic compound metabolic process", - "abnormality of kidney physiology", - "main group molecular entity", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "increased level of lipid in independent continuant", - "Proximal tubulopathy", - "organism subdivision", - "abnormal kidney", - "abdomen", - "abdominal segment of trunk", - "excretory tube", - "Abnormal blood phosphate concentration", - "phosphorus oxoacids and derivatives", - "kidney epithelium", - "compound organ", - "epithelial tube", - "lateral structure", - "Abnormality of urine homeostasis", - "upper urinary tract", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "Renal phosphate wasting", - "abnormal endocrine system", - "kidney", - "tube", - "Abnormal musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", - "nephron epithelium", - "hemolymphoid system", - "Rickets", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "carboxylic acid", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "increased level of amino acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "organic polycyclic compound", - "Abnormal renal physiology", - "chalcogen molecular entity", - "abnormal urine amino acid level", - "nitrogen molecular entity", - "increased independent continuant hormone level", - "protein-containing molecular entity", - "increased level of vitamin D", - "Abnormal circulating organic compound concentration", - "High serum calcitriol", - "organic substance metabolic process", - "increased level of chemical entity", - "carboxamide", - "Generalized aminoaciduria", - "Short stature", - "abnormally decreased functionality of the anatomical entity", - "endocrine system", - "organonitrogen compound", - "organooxygen compound", - "heteroorganic entity", - "Abnormal circulating metabolite concentration", - "ossification", - "organic acid", - "Abnormal urine phosphate concentration", - "increased level of carboxylic acid in urine", - "abnormal metabolic process", - "excreta", - "organic oxo compound", - "increased level of organic molecular entity in independent continuant", - "increased level of chemical entity in blood plasma", - "s-block molecular entity", - "organic molecule", - "Abnormality of the urinary system", - "Aciduria", - "hydroxides", - "increased level of organic acid in urine", - "increased level of nitrogen molecular entity in independent continuant", - "increased independent continuant base level", - "oxygen molecular entity", - "organic molecular entity", - "increased independent continuant role level", - "molecule", - "amino acid", - "abnormality of multicellular organism height", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "increased level of organic acid in independent continuant", - "increased level of carboxylic acid in independent continuant", - "abnormal role urine level", - "hydroxy seco-steroid", - "lipid metabolic process", - "vitamin metabolic process", - "disconnected anatomical group", - "Abnormality of the kidney", - "abnormal lipid metabolic process", - "Abnormality of the endocrine system", - "material anatomical entity", - "lipid", - "abnormal primary metabolic process", - "increased level of calcitriol in blood", - "polycyclic compound", - "carbohydrates and carbohydrate derivatives", - "organic hydroxy compound", - "steroid", - "cyclic compound", - "phosphorus molecular entity", - "abnormal independent continuant lipid level", - "abnormal independent continuant calcium atom level", - "abnormal independent continuant parathyroid hormone level", - "abnormal vitamin metabolic process" - ], - "has_phenotype_count": 17, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0024525", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", - "full_name": null, - "deprecated": null, - "description": null, - "xref": ["DOID:0080757", "OMIM:134600"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "DeToni-Debré-Fanconi syndrome", - "FRTS1", - "Fanconi renotubular syndrome", - "Fanconi renotubular syndrome 1", - "Fanconi syndrome without cystinosis", - "Luder-Sheldon syndrome", - "adult Fanconi syndrome", - "primary Fanconi renal syndrome", - "primary Fanconi renotubular syndrome", - "renal Fanconi syndrome" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001942", - "HP:0003648", - "HP:0001324", - "HP:0002749", - "HP:0002148", - "HP:0000124", - "HP:0003109", - "HP:0002900", - "HP:0002748", - "HP:0034359", - "HP:0003076", - "HP:0003155", - "HP:0003355", - "HP:0004322", - "HP:0003126", - "HP:0000083" - ], - "has_phenotype_label": [ - "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", - "Osteomalacia", - "Hypophosphatemia", - "Renal tubular dysfunction", - "Hyperphosphaturia", - "Hypokalemia", - "Rickets", - "Impaired renal tubular reabsorption of phosphate", - "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", - "Short stature", - "Low-molecular-weight proteinuria", - "Renal insufficiency" - ], - "has_phenotype_closure": [ - "CHEBI:37622", - "UPHENO:0068247", - "UPHENO:0068565", - "CHEBI:16541", - "CHEBI:32988", - "CHEBI:15841", - "CHEBI:16670", - "UPHENO:0020584", - "GO:0040007", - "UPHENO:0049874", - "UPHENO:0081424", - "UPHENO:0000541", - "UPHENO:0069254", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0075159", - "UPHENO:0051670", - "CHEBI:35605", - "CHEBI:36587", - "UPHENO:0068538", - "UPHENO:0068040", - "UPHENO:0068169", - "HP:0003355", - "CHEBI:24651", - "CHEBI:33575", - "UPHENO:0068495", - "UPHENO:0046286", - 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"HP:0000119", - "HP:0003330", - "HP:0034684", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "UPHENO:0082835", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", - "HP:0000093", - "GO:0055062", - "UPHENO:0034253", - "UBERON:0002417", - "CHEBI:22314", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0068292", - "UBERON:0000468", - "UBERON:0005090", - "HP:0000083", - "GO:0032501", - "HP:0011804", - "UPHENO:0052008", - "CHEBI:23367", - "UPHENO:0076289", - "HP:0001324", - "UBERON:0011216", - "CHEBI:33504", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0000179", - "UPHENO:0051635", - "UBERON:0000383", - "UPHENO:0001005", - "UPHENO:0004459", - "GO:0098771", - "UPHENO:0077821", - "CHEBI:36357", - "UBERON:0001630", - "HP:0033127", - "CHEBI:33259", - "UBERON:0001088", - "UPHENO:0002442", - "PATO:0000001", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0084653", - "UPHENO:0002320", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "UPHENO:0046283", - "HP:0011277", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0051801", - "CHEBI:60911", - "HP:0000001", - "UPHENO:0001002", - "CHEBI:60242", - "UPHENO:0086128", - "UPHENO:0049587", - "GO:0008152", - "UPHENO:0046284", - "HP:0004348", - "HP:0012072", - "CHEBI:36080", - "UBERON:0006314", - "UBERON:0001015", - "CHEBI:37247", - "UPHENO:0068511", - "BFO:0000002", - "HP:0001942", - "CHEBI:33238", - "UPHENO:0049628", - "UBERON:0000174", - "HP:0000924", - "BFO:0000020", - "UPHENO:0012541", - "UPHENO:0068491", - "CHEBI:36360", - "UPHENO:0001003", - "HP:0003155", - "UPHENO:0080556", - "HP:0002900", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0081550", - "UPHENO:0001001", - "CHEBI:24833", - "UBERON:0001008", - "CHEBI:33839", - "CHEBI:26079", - "GO:0042592", - "UPHENO:0082539", - "UPHENO:0082538", - "UBERON:0000489", - "BFO:0000001", - "PR:000050567", - "CHEBI:59999", - "UPHENO:0080555", - "UBERON:0000178", - "UPHENO:0068094", - "UPHENO:0081546", - "UPHENO:0051640", - "UPHENO:0051280", - "HP:0032943", - "BFO:0000015", - "GO:0008150", - "UPHENO:0051763", - "UBERON:0001062", - "CHEBI:72695", - "UPHENO:0068064", - "HP:0001939", - "CHEBI:35381", - "CHEBI:64709", - "UBERON:0003914", - "UPHENO:0079536", - "UPHENO:0024906", - "HP:0003011", - "HP:0012337", - "HP:0002749", - "CHEBI:23906", - "UPHENO:0068089", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "UPHENO:0002536", - "UPHENO:0076692", - "UBERON:0001231", - "UPHENO:0068110", - "UBERON:0003103", - "UBERON:0004111", - "GO:0070293", - "UBERON:0000062", - "UPHENO:0082875", - "UBERON:0001474", - "UBERON:0002100", - "CHEBI:28358", - "HP:0001507", - "CHEBI:37577", - "HP:0001510", - "HP:0003109", - "HP:0012591", - "HP:0000079", - "CHEBI:60004", - "CHEBI:33241", - "CHEBI:26082", - "HP:0100529", - "UPHENO:0034217", - "CHEBI:24870", - "UBERON:0000064", - "CHEBI:33675", - "UBERON:0002193", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0051937", - "UPHENO:0049904", - "UPHENO:0066739", - "UPHENO:0075902", - "CHEBI:33250", - "UBERON:0002113", - "HP:0032180", - "CHEBI:25367", - "HP:0011042", - "UBERON:0004120", - "CHEBI:17234", - "GO:0048878", - "HP:0040156", - "UBERON:0000463", - "CHEBI:26020", - "UPHENO:0002816", - "UBERON:0011143", - "HP:0011036", - "CHEBI:78616", - "HP:0000077", - "UBERON:0013702", - "CHEBI:33304", - "HP:0010930", - "UPHENO:0051847", - "UBERON:0005177", - "UBERON:0005173", - "CHEBI:16646", - "HP:0000124", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "GO:0003014", - "UBERON:0004819", - "UPHENO:0082543", - "UBERON:0000483", - "CHEBI:24431", - "HP:0003111", - "CHEBI:33318", - "UBERON:0004122", - "HP:0010935", - "UBERON:0015212", - "HP:0012211", - "UPHENO:0002411", - "UBERON:0000916", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0009773", - "HP:6000531", - "UPHENO:0068352", - "UBERON:0005172", - "HP:0001992", - "UBERON:0010000", - "UPHENO:0051709", - "UBERON:0002390", - "UPHENO:0066943", - "HP:0004322", - "CHEBI:26216", - "UPHENO:0049709", - "PR:000003968", - "UBERON:0000479", - "UPHENO:0051686", - "CHEBI:36915", - "UBERON:0000475", - "HP:0012599", - "UPHENO:0051898", - "PR:000000001", - "UPHENO:0034199", - "UBERON:0006555", - "GO:0055080", - "CHEBI:36914", - "CHEBI:36586", - "CHEBI:33521", - "UPHENO:0081544", - "CHEBI:15693", - "UPHENO:0051645", - "CHEBI:33296", - "HP:0010929", - "UPHENO:0034438", - "CHEBI:26217", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0051930", - "CHEBI:33559", - "UPHENO:0081547", - "CHEBI:25414", - "UBERON:0000061", - "CHEBI:36916", - "UPHENO:0079822", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0080659", - "CHEBI:25213", - "UPHENO:0051958", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "CHEBI:29103", - "HP:0003126", - "UPHENO:0002832", - "UPHENO:0002803", - "HP:0002748", - "UPHENO:0051191", - "HP:0034359", - "UBERON:0000465", - "CHEBI:33582", - "CHEBI:33917", - "HP:0011038", - "CHEBI:33674", - "UPHENO:0068058" - ], - "has_phenotype_closure_label": [ - "Renal insufficiency", - "non-functional kidney", - "non-functional anatomical entity", - "peptide", - "increased level of protein polypeptide chain in urine", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "Low-molecular-weight proteinuria", - "abnormal independent continuant protein polypeptide chain level", - "carboxamide", - "Abnormal urine protein level", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the independent continuant", - "delayed growth", - "Growth delay", - "growth", - "decreased size of the anatomical entity in the independent continuant", - "Growth abnormality", - "carboxylic acid", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "Elevated urinary carboxylic acid", - "increased level of organic acid in independent continuant", - "carbonyl compound", - "molecule", - "Organic aciduria", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of organic acid in urine", - "hydroxides", - "organic molecule", - "abnormal urine amino acid level", - "increased level of amino acid in urine", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of protein", - "protein", - "macromolecule", - "nitrogen molecular entity", - "protein-containing molecular entity", - "alkaline phosphatase, tissue-nonspecific isozyme", - "Abnormal circulating enzyme concentration or activity", - "organic amino compound", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", - "increased level of monosaccharide in urine", - "organic molecular entity", - "oxygen molecular entity", - "increased level of organic molecular entity in independent continuant", - "Abnormal urine metabolite level", - "Hypophosphatemia", - "monoatomic ion", - "decreased size of the anatomical entity", - "blood", - "inorganic ion", - "pnictogen molecular entity", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "organism substance", - "primary amide", - "elemental molecular entity", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "abnormal renal absorption", - "skeletal system", - "abnormal size of multicellular organism", - "bone element", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "abnormal anatomical entity mass density", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "epithelium", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "abnormal monoatomic cation homeostasis", - "abnormal bone element mass density", - "decreased role independent continuant level", - "skeletal element", - "increased level of rac-lactic acid in independent continuant", - "cavitated compound organ", - "Abnormality of the upper urinary tract", - "musculature of body", - "monoatomic cation", - "organ part", - "Muscle weakness", - "abdominal segment of trunk", - "decreased muscle organ strength", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", - "abnormal potassium atom level", - "abnormal renal system process", - "abnormal musculature", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "abnormality of muscle organ physiology", - "urine", - "anatomical system", - "Abnormal bone structure", - "potassium(1+)", - "abnormal blood chemical entity level", - "phosphate ion homeostasis", - "racemate", - "Aminoaciduria", - "organ system subdivision", - "abnormal genitourinary system", - "abnormal chemical homeostasis", - "decreased anatomical entity strength", - "mixture", - "epithelial tube", - "chemical substance", - "chemical entity", - "increased independent continuant acid level", - "abnormal blood monoatomic ion level", - "increased bodily fluid acid level", - "process", - "All", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "increased level of amino acid in independent continuant", - "Abnormality of the musculature", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal role urine level", - "abnormal chemical entity level", - "increased level of rac-lactic acid in urine", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "abnormal urine glucose level", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "multicellular anatomical structure", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Abnormality of the genitourinary system", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", - "Acidosis", - "material entity", - "abnormal independent continuant potassium atom level", - "protein polypeptide chain", - "continuant", - "nephron", - "amino acid chain", - "tissue", - "monoatomic ion homeostasis", - "abnormal urine chemical entity level", - "biomacromolecule", - "p-block molecular entity", - "inorganic cation", - "increased level of chemical entity", - "renal absorption", - "homeostatic process", - "Abnormal enzyme concentration or activity", - "organochalcogen compound", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "main group element atom", - "carbon group molecular entity", - "metabolic process", - "bodily fluid", - "abnormal urine phosphate level", - "abnormal acid bodily fluid level", - "organic oxo compound", - "excreta", - "monoatomic monocation", - "Abnormality of the urinary system physiology", - "organ", - "occurrent", - "abnormal anatomical entity", - "Metabolic acidosis", - "decreased level of potassium atom in blood", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "genitourinary system", - "atom", - "muscle structure", - "material anatomical entity", - "abnormal growth", - "independent continuant", - "abnormal renal system", - "Phenotypic abnormality", - "Hyperphosphaturia", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", - "renal system", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "Abnormality of the urinary system", - "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "abnormal role bodily fluid level", - "abnormal biological_process", - "potassium atom", - "trunk", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "polyatomic entity", - "ion", - "phosphorus molecular entity", - "chemical homeostasis", - "heteroatomic molecular entity", - "abnormal acid independent continuant level", - "monoatomic entity", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "multicellular organismal process", - "abnormal blood phosphate level", - "organic acid", - "ossification", - "Abnormal circulating metabolite concentration", - "main body axis", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "Elevated circulating alkaline phosphatase concentration", - "abnormality of kidney physiology", - "main group molecular entity", - "haemolymphatic fluid", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "abnormal homeostatic process", - "Renal tubular dysfunction", - "trunk region element", - "musculoskeletal system", - "abnormal upper urinary tract", - "uriniferous tubule", - "subdivision of organism along main body axis", - "organism subdivision", - "hematopoietic system", - "multicellular organism", - "Impaired renal tubular reabsorption of phosphate", - "abnormal kidney", - "abdomen", - "excretory tube", - "Abnormal blood phosphate concentration", - "phosphorus oxoacids and derivatives", - "kidney epithelium", - "compound organ", - "lateral structure", - "Abnormality of urine homeostasis", - "upper urinary tract", - "kidney", - "aldose", - "glucose", - "Abnormality of the kidney", - "chalcogen molecular entity", - "Abnormal renal physiology", - "nephron epithelium", - "Short stature", - "inorganic molecular entity", - "abnormally decreased functionality of the anatomical entity", - "carbohydrates and carbohydrate derivatives", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "aldohexose", - "oxoacid derivative", - "increased level of phosphate in urine", - "Abnormal blood cation concentration", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "Abnormal blood monovalent inorganic cation concentration", - "elemental potassium", - "s-block molecular entity", - "s-block element atom", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "carbon oxoacid", - "Abnormal blood potassium concentration", - "Hypokalemia", - "monoatomic cation homeostasis", - "cation", - "alkali metal atom", - "abnormal blood potassium(1+) level", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", - "musculature", - "decreased role blood level", - "hemolymphoid system", - "Rickets", - "abnormal independent continuant amino acid level", - "renal system process", - "anatomical entity", - "Abnormal renal tubular resorption", - "abnormal independent continuant chemical entity level", - "Abnormality of renal excretion", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", - "abnormal phosphate level", - "decreased level of chemical entity", - "system process", - "information biomacromolecule", - "Abnormal bone ossification", - "abdominal segment element", - "Glycosuria", - "monosaccharide", - "hexose", - "organooxygen compound", - "heteroorganic entity", - "body proper", - "increased level of glucose in urine" - ], - "has_phenotype_count": 16, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0014275", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", - "full_name": null, - "deprecated": null, - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", - "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "EHHADH Fanconi syndrome", - "FRTS3", - "Fanconi renotubular syndrome 3", - "Fanconi renotubular syndrome type 3", - "Fanconi syndrome caused by mutation in EHHADH" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001942", - "HP:0001510", - "HP:0003259", - "HP:0003109", - "HP:0002748", - "HP:0002979", - "HP:0003076", - "HP:0000083", - "HP:0004322", - "HP:0003355", - "HP:0003126" - ], - "has_phenotype_label": [ - "Metabolic acidosis", - "Growth delay", - "Elevated circulating creatinine concentration", - "Hyperphosphaturia", - "Rickets", - "Bowing of the legs", - "Glycosuria", - "Renal insufficiency", - "Short stature", - "Aminoaciduria", - "Low-molecular-weight proteinuria" - ], - "has_phenotype_closure": [ - "UPHENO:0068247", - "HP:0000093", - "UPHENO:0068565", - "CHEBI:16541", - "UPHENO:0051801", - "CHEBI:15841", - "CHEBI:16670", - "CHEBI:50047", - "UPHENO:0051670", - "CHEBI:36586", - "CHEBI:36587", - "UPHENO:0068169", - "HP:0003355", - "CHEBI:24651", - "CHEBI:33575", - "HP:0012072", - "HP:0032943", - "UPHENO:0068495", - "UPHENO:0046286", - "UPHENO:0068091", - "UPHENO:0051930", - "HP:0031980", - "CHEBI:33709", - "UPHENO:0081424", - "UPHENO:0068971", - "UPHENO:0069254", - "UPHENO:0075159", - "UPHENO:0075195", - "UPHENO:0086132", - "UBERON:0000916", - "HP:0012211", - "UBERON:0000489", - "UBERON:0005173", - "UBERON:0009569", - "UBERON:0013701", - "UBERON:0011676", - "UBERON:0002113", - "UBERON:0011143", - "UPHENO:0075902", - "HP:0000077", - "CHEBI:78616", - "CHEBI:18133", - "UPHENO:0081544", - "CHEBI:15693", - "CHEBI:33674", - "UPHENO:0068058", - "CHEBI:17234", - "CHEBI:35381", - "UPHENO:0052116", - "HP:0012591", - "UBERON:0002417", - "UPHENO:0082129", - "CHEBI:23443", - "UPHENO:0001001", - "CHEBI:16646", - "CHEBI:38304", - "HP:0012100", - "CHEBI:37622", - "CHEBI:24532", - "UPHENO:0077826", - "CHEBI:33661", - "UPHENO:0001002", - "UBERON:0002193", - "CHEBI:33675", - "UPHENO:0068538", - "UBERON:0004120", - "HP:0040064", - "UPHENO:0068144", - "UBERON:0010707", - "HP:0000002", - "HP:0033354", - "HP:0002157", - "UPHENO:0079534", - "CHEBI:50860", - "CHEBI:32988", - "UPHENO:0002411", - "HP:0002981", - "CHEBI:35352", - "HP:0430071", - "BFO:0000020", - "UPHENO:0068491", - "UPHENO:0012541", - "CHEBI:36360", - "UPHENO:0051640", - "UPHENO:0081546", - "HP:0004360", - "UPHENO:0068064", - "CHEBI:72695", - "GO:0008150", - "UPHENO:0076703", - "CHEBI:38101", - "UPHENO:0081550", - "UPHENO:0041573", - "UPHENO:0041098", - "UPHENO:0078550", - "HP:0004364", - "BFO:0000004", - "UPHENO:0051753", - "UPHENO:0068346", - "CHEBI:55370", - "UBERON:8450002", - "UPHENO:0051763", - "CHEBI:23367", - "HP:0003076", - "UPHENO:0000543", - "CHEBI:33256", - "CHEBI:33302", - "CHEBI:38261", - "UPHENO:0082542", - "HP:0000119", - "UBERON:0002101", - "UPHENO:0002964", - "UPHENO:0076740", - "UPHENO:0082467", - "UPHENO:0077821", - "CHEBI:36357", - "UPHENO:0051894", - "UPHENO:0086956", - "HP:0000001", - "CHEBI:33832", - "UBERON:0000468", - "GO:0008152", - "CHEBI:51143", - "UPHENO:0068049", - "CHEBI:5686", - "BFO:0000002", - "BFO:0000040", - "HP:0004349", - "UPHENO:0082834", - "UBERON:0006314", - "UPHENO:0046284", - "UBERON:0003103", - "UPHENO:0068110", - "HP:0003109", - "HP:0001510", - "HP:0006487", - "UPHENO:0051635", - "UBERON:0001977", - "UBERON:0010363", - "HP:0001942", - "CHEBI:37577", - "HP:0001507", - "UPHENO:0086128", - "UPHENO:0049587", - "CHEBI:33595", - "CHEBI:24431", - "UPHENO:0068442", - "CHEBI:36963", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0000541", - "CHEBI:33285", - "CHEBI:25367", - "UPHENO:0079873", - "UPHENO:0076727", - "UPHENO:0001003", - "HP:0001941", - "UPHENO:0051804", - "HP:0000118", - "UBERON:0000178", - "CHEBI:24833", - "UBERON:0001008", - "CHEBI:33839", - "CHEBI:26079", - "CHEBI:33670", - "UPHENO:0080351", - "UPHENO:0076286", - "PATO:0000001", - "UPHENO:0002442", - "UBERON:0000978", - "UBERON:0011249", - "UPHENO:0031193", - "GO:0040007", - "UPHENO:0082539", - "UBERON:0004769", - "UPHENO:0082538", - "PR:000050567", - "BFO:0000003", - "HP:0011844", - "UBERON:0004709", - "BFO:0000001", - "CHEBI:16737", - "UPHENO:0076289", - "CHEBI:25693", - "UBERON:0000061", - "BFO:0000015", - "UBERON:0005055", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0048707", - "HP:0011849", - "UBERON:0011216", - "UBERON:0005172", - "UPHENO:0052038", - "UBERON:0001969", - "UBERON:0001062", - "UPHENO:0001005", - "UBERON:0000465", - "CHEBI:33582", - "UPHENO:0081547", - "HP:0012337", - "HP:0032180", - "UPHENO:0082536", - "HP:0001992", - "UBERON:0002390", - "UBERON:0010000", - "UPHENO:0068089", - "HP:0001871", - "UPHENO:0049874", - "UBERON:0003823", - "HP:0001939", - "CHEBI:36962", - "UPHENO:0002830", - "CHEBI:64709", - "UPHENO:0079536", - "UPHENO:0080659", - "CHEBI:33579", - "UPHENO:0051668", - "CHEBI:24995", - "HP:0000924", - "UBERON:0000174", - "GO:0001503", - "HP:0020129", - "UPHENO:0046348", - "UBERON:0005177", - "UPHENO:0051847", - "UPHENO:0041258", - "CHEBI:33241", - "CHEBI:26082", - "UPHENO:0051686", - "HP:6000531", - "UPHENO:0068352", - "UPHENO:0051739", - "UPHENO:0051900", - "HP:0010935", - "UBERON:0004122", - "UBERON:0002100", - "UPHENO:0082875", - "UBERON:0001474", - "HP:0011277", - "HP:0012599", - "UPHENO:0081423", - "UPHENO:0002642", - "UBERON:0001088", - "UPHENO:0078554", - "UPHENO:0002332", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0084763", - "HP:0040156", - "UBERON:0000463", - "CHEBI:26020", - "UPHENO:0082835", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0068251", - "UBERON:0004288", - "UPHENO:0075696", - "HP:0011842", - "UBERON:0001434", - "HP:0000083", - "GO:0032501", - "HP:0003330", - "UPHENO:0041610", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0002748", - "UBERON:0004708", - "UBERON:0002204", - "UPHENO:0068054", - "UPHENO:0020041", - "HP:0004348", - "UPHENO:0084653", - "UBERON:0000062", - "RO:0002577", - "UPHENO:0004459", - "UBERON:0002428", - "UBERON:0005913", - "UBERON:0004381", - "UPHENO:0068472", - "UBERON:0000154", - "HP:0003259", - "UBERON:0010758", - "CHEBI:25806", - "UPHENO:0082449", - "UBERON:0000064", - "UPHENO:0086628", - "UPHENO:0077858", - "UPHENO:0080352", - "UBERON:0000179", - "UBERON:0000026", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0041226", - "HP:0002979", - "UPHENO:0082543", - "UBERON:0002471", - "CHEBI:33608", - "HP:0000940", - "UBERON:0010709", - "UPHENO:0051630", - "UPHENO:0068190", - "UBERON:0010712", - "CHEBI:35605", - "UPHENO:0041591", - "UBERON:0002091", - "UPHENO:0031310", - "UPHENO:0020584", - "UBERON:0013702", - "CHEBI:33304", - "HP:0002813", - "UBERON:0002529", - "UPHENO:0041536", - "HP:0040068", - "UPHENO:0075952", - "UPHENO:0086780", - "UPHENO:0076285", - "UBERON:0015212", - "UBERON:0006058", - "UBERON:0010538", - "HP:0002814", - "UPHENO:0003070", - "HP:0011314", - "UBERON:0011582", - "UBERON:0010912", - "HP:0004322", - "UBERON:0015061", - "CHEBI:33917", - "UBERON:0004375", - "UBERON:0002103", - "UBERON:0034944", - "UPHENO:0080300", - "UPHENO:0002896", - "UBERON:0010740", - "UPHENO:0080658", - "UBERON:0002495", - "HP:0000079", - "UBERON:0002513", - "UPHENO:0084767", - "GO:0042592", - "UBERON:0034925", - "UBERON:0000075", - "UBERON:0000475", - "UPHENO:0068040", - "UBERON:0008784" - ], - "has_phenotype_closure_label": [ - "peptide", - "macromolecule", - "increased level of protein polypeptide chain in independent continuant", - "Low-molecular-weight proteinuria", - "abnormal independent continuant protein polypeptide chain level", - "Abnormal urine protein level", - "carboxylic acid", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "increased level of organic acid in independent continuant", - "carbon oxoacid", - "carbonyl compound", - "Abnormal urine pH", - "increased independent continuant base level", - "increased level of organic acid in urine", - "hydroxides", - "increased level of amino acid in independent continuant", - "abnormal urine amino acid level", - "hydrogen molecular entity", - "increased level of amino acid in urine", - "organic amino compound", - "abnormal amino acid level", - "abnormal size of anatomical entity", - "Abnormality of body height", - "decreased height of the multicellular organism", - "Short stature", - "decreased size of the anatomical entity in the independent continuant", - "abdomen element", - "Abnormality of the kidney", - "Renal insufficiency", - "kidney", - "cavitated compound organ", - "abdominal segment of trunk", - "trunk", - "abdomen", - "abnormal kidney", - "non-functional kidney", - "non-functional anatomical entity", - "Abnormality of the upper urinary tract", - "main body axis", - "subdivision of organism along main body axis", - "trunk region element", - "increased level of glucose in independent continuant", - "abnormal role urine level", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "increased level of monosaccharide in urine", - "Abnormal urine metabolite level", - "body proper", - "increased level of glucose in urine", - "abnormal urine glucose level", - "glucose", - "aldose", - "hexose", - "organonitrogen heterocyclic compound", - "abnormal shape of continuant", - "increased level of creatinine in independent continuant", - "primary amide", - "phenotype by ontology source", - "growth", - "increased level of chemical entity in blood", - "multicellular organism", - "hematopoietic system", - "abnormality of kidney physiology", - "main group molecular entity", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "zone of bone organ", - "haemolymphatic fluid", - "heteromonocyclic compound", - "hindlimb", - "abnormal blood nitrogen molecular entity level", - "molecule", - "organic molecular entity", - "Aciduria", - "Abnormality of the urinary system", - "oxygen molecular entity", - "increased level of creatinine in blood", - "increased bodily fluid acid level", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "increased level of chemical entity in blood serum", - "urine", - "increased level of creatinine in blood serum", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "Azotemia", - "anatomical system", - "organic molecule", - "monocyclic compound", - "Abnormal bone structure", - "organic cyclic compound", - "phenotype", - "increased level of nitrogen molecular entity in blood", - "abnormal blood chemical entity level", - "imidazolidines", - "organooxygen compound", - "upper urinary tract", - "Abnormality of urine homeostasis", - "shape anatomical entity", - "Abnormal circulating creatinine concentration", - "increased level of chemical entity", - "heteroorganic entity", - "abnormal role blood serum level", - "phosphorus molecular entity", - "blood plasma", - "decreased size of the anatomical entity", - "blood", - "imidazolidinone", - "chemical entity", - "increased independent continuant acid level", - "process", - "abnormal blood plasma chemical entity level", - "abnormal role independent continuant level", - "delayed growth", - "Abnormal circulating nitrogen compound concentration", - "carbon group molecular entity", - "abnormal independent continuant chemical entity level", - "increased blood serum role level", - "p-block molecular entity", - "Elevated urinary carboxylic acid", - "skeleton", - "abnormal independent continuant creatinine level", - "s-block molecular entity", - "increased level of chemical entity in blood plasma", - "Elevated circulating creatinine concentration", - "organism substance", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "subdivision of skeletal system", - "entity", - "Abnormal urinary electrolyte concentration", - "mesoderm-derived structure", - "Abnormal circulating organic compound concentration", - "Abnormality of metabolism/homeostasis", - "abnormal role blood level", - "increased level of chemical entity in bodily fluid", - "increased level of chemical entity in urine", - "abnormal bone element mass density", - "phosphate", - "abnormal multicellular organism chemical entity level", - "Hyperphosphaturia", - "Phenotypic abnormality", - "blood serum", - "increased level of chemical entity in independent continuant", - "renal system", - "Abnormality of the urinary system physiology", - "abnormal acid bodily fluid level", - "organic oxo compound", - "excreta", - "anatomical structure", - "polypeptide", - "abnormal limb", - "Abnormality of bone mineral density", - "Bowing of the long bones", - "Acidosis", - "material entity", - "long bone", - "organic heterocyclic compound", - "organism subdivision", - "organic acid", - "Abnormal circulating metabolite concentration", - "ossification", - "abnormal hindlimb zeugopod", - "protein polypeptide chain", - "continuant", - "abnormal acid independent continuant level", - "organic heteromonocyclic compound", - "oxoacid", - "delayed biological_process", - "limb skeleton subdivision", - "abnormal blood creatinine level", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "metabolic process", - "multi-limb segment region", - "bodily fluid", - "abnormal urine phosphate level", - "Metabolic acidosis", - "multicellular anatomical structure", - "posterior region of body", - "independent continuant", - "abnormal growth", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "Abnormality of acid-base homeostasis", - "Abnormal homeostasis", - "organochalcogen compound", - "homeostatic process", - "abnormal hindlimb zeugopod morphology", - "appendage girdle complex", - "material anatomical entity", - "cyclic compound", - "appendage", - "organonitrogen compound", - "anatomical entity", - "increased blood role level", - "leg", - "Growth abnormality", - "polyatomic entity", - "abnormal role bodily fluid level", - "abnormal biological_process", - "lactam", - "increased independent continuant role level", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the appendage girdle complex", - "appendicular skeleton", - "carboxamide", - "endochondral element", - "creatinine", - "abnormal blood serum chemical entity level", - "occurrent", - "organ", - "curved long bone", - "cyclic amide", - "paired limb/fin segment", - "pnictogen molecular entity", - "Abnormal renal physiology", - "chalcogen molecular entity", - "abnormal urine chemical entity level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormal phosphate level", - "Abnormality of the skeletal system", - "Bowing of the legs", - "abnormal independent continuant phosphate level", - "Growth delay", - "diaphysis", - "All", - "anatomical collection", - "abnormal leg", - "abnormal renal system", - "hindlimb zeugopod", - "Abnormal long bone morphology", - "compound organ", - "phosphorus oxoacids and derivatives", - "abnormality of anatomical entity physiology", - "excretory system", - "genitourinary system", - "phosphorus oxoacid derivative", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "curvature anatomical entity in independent continuant", - "oxoacid derivative", - "increased level of phosphate in urine", - "abnormal genitourinary system", - "abnormal hindlimb morphology", - "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "increased level of phosphate in independent continuant", - "abnormal skeletal system", - "quality", - "abnormality of renal system physiology", - "phosphoric acid derivative", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "diazolidine", - "Reduced bone mineral density", - "heterocyclic compound", - "skeletal system", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", - "abnormal anatomical entity mass density", - "abnormal upper urinary tract", - "curvature anatomical entity", - "musculoskeletal system", - "Abnormal skeletal morphology", - "Decreased anatomical entity mass density", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "abnormal size of multicellular organism", - "bone element", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "hemolymphoid system", - "Rickets", - "abnormal independent continuant glucose level", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal hindlimb zeugopod, curved", - "multicellular organismal process", - "organ part", - "abnormal appendicular skeleton morphology", - "curved anatomical entity in independent continuant", - "Abnormality of the lower limb", - "Abnormality of the calf", - "abdominal segment element", - "Abnormal bone ossification", - "Glycosuria", - "subdivision of organism along appendicular axis", - "lower limb segment", - "skeletal element", - "zeugopod", - "abnormal anatomical entity, curved", - "increased level of protein polypeptide chain in urine", - "limb segment", - "abnormal anatomical entity morphology in the independent continuant", - "aldohexose", - "zone of organ", - "amide", - "Abnormality of limb bone", - "Organic aciduria", - "Abnormal diaphysis morphology", - "abnormal limb bone morphology", - "limb bone", - "increased level of organic molecular entity in independent continuant", - "shape long bone", - "abnormal limb bone", - "skeleton of limb", - "abnormal long bone morphology", - "zone of long bone", - "pelvic appendage", - "paired limb/fin", - "pelvic complex", - "abnormal chemical entity level", - "appendicular skeletal system", - "shape anatomical entity in independent continuant", - "limb", - "lateral structure", - "curved hindlimb zeugopod", - "nitrogen molecular entity", - "abnormal limb morphology", - "system", - "monosaccharide", - "subdivision of skeleton", - "endochondral bone", - "heteroatomic molecular entity", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "curved anatomical entity", - "abnormal diaphysis morphology", - "Abnormal appendicular skeleton morphology", - "carbohydrates and carbohydrate derivatives" - ], - "has_phenotype_count": 11, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0030056", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 5", - "full_name": null, - "deprecated": null, - "description": null, - "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FANCONI RENOTUBULAR SYNDROME 5", - "FRTS5", - "Fanconi Renotubular Syndrome, Acadian Variant", - "Fanconi renotubular syndrome 5" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002857", - "HP:0045051", - "HP:0002148", - "HP:0002206", - "HP:0004912", - "HP:0004918", - "HP:0000093", - "HP:0003076", - "HP:0002097", - "HP:0003355", - "HP:0005576", - "HP:0003774", - "HP:0000822", - "HP:0030078" - ], - "has_phenotype_label": [ - "Genu valgum", - "Decreased DLCO", - "Hypophosphatemia", - "Pulmonary fibrosis", - "Hypophosphatemic rickets", - "Hyperchloremic metabolic acidosis", - "Proteinuria", - "Glycosuria", - "Emphysema", - "Aminoaciduria", - "Tubulointerstitial fibrosis", - "Stage 5 chronic kidney disease", - "Hypertension", - "Lung adenocarcinoma" - ], - "has_phenotype_closure": [ - "HP:0100526", - "HP:0002664", - "HP:0011793", - "UBERON:0000055", - "UBERON:0034923", - "HP:0002597", - "UBERON:0002049", - "UBERON:0001009", - "UPHENO:0002678", - "UBERON:0004535", - "UBERON:0001981", - "UBERON:0000477", - "HP:0000822", - "HP:0030972", - "HP:0001626", - "UPHENO:0086132", - "HP:0003774", - "HP:0012211", - "HP:0012622", - "UBERON:0000479", - "HP:0012210", - "UBERON:0005172", - "UBERON:0009773", - "UBERON:0007684", - "UBERON:0004211", - "UBERON:0000916", - "HP:0000091", - "UBERON:0000489", - "UBERON:0005173", - "UPHENO:0076779", - "UPHENO:0076714", - "UBERON:0004819", - "HP:0030760", - "UBERON:0001231", - "UBERON:0002113", - "UBERON:0011143", - "UPHENO:0075902", - "UPHENO:0051670", - "CHEBI:36586", - "CHEBI:36587", - "UPHENO:0068169", - "UPHENO:0051739", - "CHEBI:24651", - "CHEBI:33575", - "HP:0030078", - "HP:0012072", - "HP:0030358", - "HP:0032943", - "UPHENO:0068495", - "UBERON:0004537", - "UPHENO:0046286", - "UPHENO:0051930", - "HP:0031980", - "CHEBI:33709", - "UPHENO:0076756", - "CHEBI:25367", - "HP:0002097", - "HP:0000077", - "CHEBI:78616", - "UPHENO:0051635", - "HP:6000531", - "CHEBI:18133", - "CHEBI:33674", - "UPHENO:0068058", - "CHEBI:17234", - "CHEBI:35381", - "CHEBI:16646", - "UPHENO:0052116", - "CHEBI:37622", - "CHEBI:50047", - "CHEBI:15693", - "UPHENO:0081544", - "UPHENO:0068247", - "UBERON:0001088", - "UPHENO:0002442", - "UPHENO:0068565", - "HP:0011277", - "HP:0033354", - "CHEBI:16541", - "HP:0010935", - "UBERON:0004122", - "UBERON:8450002", - "UPHENO:0068538", - "CHEBI:33285", - "CHEBI:32988", - "CHEBI:35352", - "UPHENO:0051686", - "CHEBI:50860", - "HP:0032581", - "CHEBI:36962", - "CHEBI:51143", - "CHEBI:15841", - "HP:0000119", - "UPHENO:0082542", - "CHEBI:24833", - "UBERON:0001008", - "CHEBI:16670", - "UPHENO:0068040", - "UBERON:0008784", - "UPHENO:0068089", - "UBERON:0000170", - "HP:0006487", - "UPHENO:0004536", - "UBERON:0000062", - "UPHENO:0041610", - "UBERON:0010912", - "UBERON:0011582", - "UBERON:0000075", - "UBERON:0000061", - "UPHENO:0068054", - "UPHENO:0020041", - "UPHENO:0075945", - "UPHENO:0084767", - "UBERON:0011249", - "UBERON:0010740", - "HP:0001871", - "UBERON:0002103", - "CHEBI:33917", - "UBERON:0004375", - "UPHENO:0076727", - "BFO:0000020", - "UPHENO:0068491", - "CHEBI:36360", - "HP:0100606", - "UPHENO:0084763", - "UPHENO:0001005", - "CHEBI:33582", - "UBERON:0000465", - "UPHENO:0082539", - "RO:0002577", - "HP:0002815", - "HP:0002814", - "UPHENO:0051801", - "UBERON:0001465", - "UBERON:0010538", - "HP:0003076", - "UBERON:0013522", - "UBERON:0010363", - "UPHENO:0086956", - "UPHENO:0041098", - "HP:0000118", - "UPHENO:0031193", - "UBERON:0000178", - "CHEBI:33608", - "HP:0000940", - "UBERON:0004120", - "HP:0040064", - "UPHENO:0068144", - "UBERON:0010707", - "HP:0011025", - "HP:0001969", - "UBERON:0005055", - "BFO:0000015", - "UPHENO:0041536", - "UBERON:0002529", - "UPHENO:0041258", - "UBERON:0005177", - "UPHENO:0051847", - "UBERON:0015212", - "UPHENO:0002406", - "BFO:0000040", - "CHEBI:35605", - "UBERON:0002091", - "UPHENO:0041591", - "HP:0004349", - "UPHENO:0082834", - "UBERON:0004770", - "UPHENO:0082467", - "UBERON:0011676", - "UBERON:0000072", - "UPHENO:0076299", - "UPHENO:0077858", - "UBERON:0006555", - "UPHENO:0086780", - "UPHENO:0002411", - "HP:0002981", - "UPHENO:0068091", - "HP:0001367", - "UPHENO:0082835", - "UBERON:0000064", - "UPHENO:0087462", - "CHEBI:24870", - "HP:0034669", - "HP:0020129", - "UPHENO:0046348", - "HP:0006530", - "UPHENO:0002536", - "UPHENO:0002885", - "UPHENO:0076692", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0082538", - "UBERON:0004769", - "HP:0003110", - "CHEBI:36359", - "BFO:0000001", - "UBERON:0006058", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0002830", - "UBERON:0002101", - "UPHENO:0002964", - "UPHENO:0020584", - "UPHENO:0031310", - "UBERON:0010758", - "UBERON:0034921", - "HP:0011849", - "UPHENO:0048707", - "UBERON:0000174", - "HP:0000924", - "UBERON:0010709", - "UBERON:0000154", - "UPHENO:0086628", - "UBERON:0000467", - "UBERON:0004765", - "UBERON:0004288", - "HP:0012575", - "UPHENO:0081550", - "UPHENO:0076703", - "UPHENO:0003070", - "CHEBI:25806", - "UPHENO:0082449", - "HP:0000079", - "UBERON:0002513", - "UBERON:0001062", - "UPHENO:0002642", - "HP:0100491", - "BFO:0000002", - "UBERON:0005913", - "BFO:0000004", - "UBERON:0000026", - "UBERON:0000179", - "UBERON:0004381", - "HP:0012252", - "PR:000050567", - "HP:0011844", - "UBERON:0004709", - "BFO:0000003", - "UBERON:0002417", - "UPHENO:0082129", - "CHEBI:37577", - "UBERON:0015061", - "HP:0011314", - "UPHENO:0001001", - "UBERON:0002204", - "UPHENO:0086908", - "UBERON:0001434", - "UPHENO:0041226", - "UPHENO:0080658", - "UBERON:0002495", - "UBERON:0000468", - "HP:0000093", - "GO:0055062", - "UBERON:0010712", - "UPHENO:0034253", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0001003", - "UPHENO:0080300", - "UBERON:0034944", - "UPHENO:0002896", - "UPHENO:0076767", - "HP:0000001", - "UBERON:0011216", - "UBERON:0005178", - "UBERON:0004111", - "UPHENO:0001002", - "UBERON:0004708", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0002748", - "HP:0040068", - "UPHENO:0075952", - "UBERON:0003840", - "HP:0001992", - "UBERON:0010000", - "UPHENO:0051709", - "UBERON:0002390", - "UPHENO:0002448", - "UBERON:0001004", - "HP:0045051", - "HP:0002086", - "GO:0001503", - "GO:0008150", - "UPHENO:0041573", - "HP:0030878", - "UPHENO:0087427", - "UPHENO:0078554", - "UPHENO:0002332", - "CHEBI:33259", - "HP:0045049", - "UBERON:0000978", - "HP:0100529", - "UBERON:0001474", - "UBERON:0002100", - "UPHENO:0082875", - "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0050080", - "HP:0002148", - "UBERON:0007798", - "CHEBI:33304", - "HP:0002813", - "UBERON:0013702", - "HP:0003355", - "UPHENO:0019970", - "UPHENO:0086128", - "UPHENO:0049587", - "UPHENO:0087993", - "GO:0008152", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "UPHENO:0049628", - "CHEBI:33238", - "HP:0001941", - "HP:0004912", - "UPHENO:0051804", - "UBERON:0002428", - "UPHENO:0004459", - "GO:0098771", - "UPHENO:0077821", - "CHEBI:36357", - "GO:0050801", - "HP:0000083", - "GO:0032501", - "UBERON:0003823", - "HP:0001995", - "CHEBI:33302", - "UPHENO:0051960", - "UPHENO:0034351", - "UPHENO:0084654", - "UBERON:0000915", - "UPHENO:0034391", - "UPHENO:0051640", - "UPHENO:0081546", - "HP:0004360", - "UBERON:0003657", - "CHEBI:23367", - "UBERON:0034925", - "HP:0002795", - "GO:0042592", - "UBERON:0006314", - "HP:0032263", - "UPHENO:0046284", - "CHEBI:33241", - "CHEBI:26082", - "UBERON:0000982", - "UPHENO:0034217", - "UPHENO:0080659", - "CHEBI:33579", - "UPHENO:0051668", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0051763", - "UPHENO:0080362", - "UPHENO:0051937", - "HP:0001939", - "HP:0003111", - "CHEBI:24431", - "UPHENO:0049904", - "UPHENO:0066739", - "CHEBI:33839", - "CHEBI:26079", - "GO:0048878", - "HP:0040156", - "HP:0002857", - "UBERON:0000463", - "CHEBI:26020", - "PATO:0000001", - "UBERON:0004905", - "HP:0002088", - "UBERON:0002048", - "UBERON:0001558", - "UBERON:0000171", - "UPHENO:0076740", - "UPHENO:0076294", - "HP:0001942", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "UBERON:0004119", - "UPHENO:0079873", - "HP:0002206", - "UBERON:0005181", - "UBERON:0002075", - "UBERON:0000475", - "UPHENO:0087433", - "UPHENO:0020748", - "HP:0032180", - "UBERON:0000065", - "UPHENO:0068110", - "UBERON:0003103", - "HP:0005576", - "UBERON:0001005", - "HP:0003330", - "HP:0004348", - "UPHENO:0084653", - "HP:0004918", - "UPHENO:0076289", - "UBERON:0000483", - "HP:0002979", - "UBERON:0002471", - "UPHENO:0082543", - "CHEBI:72695", - "UPHENO:0068064", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0079536", - "UPHENO:0081547", - "HP:0012337" - ], - "has_phenotype_closure_label": [ - "Neoplasm", - "Neoplasm of the respiratory system", - "Abnormality of the vasculature", - "abnormal cardiovascular system", - "disconnected anatomical group", - "cardiovascular system", - "blood vasculature", - "Abnormal systemic blood pressure", - "Hypertension", - "Renal insufficiency", - "non-functional kidney", - "abnormal vasculature", - "Chronic kidney disease", - "Increased blood pressure", - "Tubulointerstitial fibrosis", - "Abnormal renal insterstitial morphology", - "renal tubule", - "uriniferous tubule", - "nephron epithelium", - "abdomen element", - "Abnormality of the kidney", - "excretory tube", - "cavitated compound organ", - "abdominal segment of trunk", - "abdomen", - "abnormal kidney", - "Abnormal renal morphology", - "tissue", - "anatomical cluster", - "abnormal kidney epithelium morphology", - "Abnormality of the upper urinary tract", - "Abnormal nephron morphology", - "carboxylic acid", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", - "amino acid", - "increased level of organic acid in independent continuant", - "carbon oxoacid", - "carbonyl compound", - "molecule", - "Abnormal urine pH", - "abnormal nephron tubule morphology", - "increased level of organic acid in urine", - "hydroxides", - "organic molecule", - "oxoacid", - "s-block molecular entity", - "increased level of carboxylic acid in urine", - "abnormal urine amino acid level", - "Abnormal renal tubule morphology", - "nephron tubule", - "hydrogen molecular entity", - "increased level of amino acid in urine", - "abnormal amino acid level", - "Emphysema", - "increased level of glucose in independent continuant", - "abnormal independent continuant carbohydrate level", - "Abnormal urinary organic compound level", - "Lung adenocarcinoma", - "increased level of monosaccharide in urine", - "abnormal metabolite independent continuant level", - "abnormal urine glucose level", - "glucose", - "aldose", - "hexose", - "monosaccharide", - "increased level of monosaccharide in independent continuant", - "carbohydrates and carbohydrate derivatives", - "abnormal role urine level", - "vascular system", - "increased level of chemical entity in urine", - "peptide", - "urine", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "macromolecule", - "abnormal genitourinary system", - "organic molecular entity", - "oxygen molecular entity", - "organic oxo compound", - "excreta", - "increased independent continuant base level", - "abnormal independent continuant nitrogen molecular entity level", - "increased level of protein polypeptide chain in independent continuant", - "upper urinary tract", - "Abnormal tubulointerstitial morphology", - "Abnormality of urine homeostasis", - "genitourinary system", - "Abnormal urine metabolite level", - "heteroorganic entity", - "organooxygen compound", - "abnormal renal system", - "carbon group molecular entity", - "renal system", - "abnormal independent continuant protein polypeptide chain level", - "Aciduria", - "Abnormality of the urinary system", - "protein polypeptide chain", - "continuant", - "anatomical entity", - "material entity", - "organic amino compound", - "Abnormal appendicular skeleton morphology", - "Abnormal respiratory system physiology", - "homeostatic process", - "organochalcogen compound", - "Abnormal homeostasis", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "vasculature", - "Abnormal long bone morphology", - "hindlimb zeugopod", - "bone of free limb or fin", - "hindlimb", - "leg", - "monoatomic ion", - "nitrogen molecular entity", - "abnormal limb morphology", - "increased level of amino acid in independent continuant", - "thoracic segment of trunk", - "skeletal system", - "blood", - "long bone", - "phosphate ion homeostasis", - "abdominal segment element", - "Glycosuria", - "Abnormal bone ossification", - "Non-small cell lung carcinoma", - "skeletal joint", - "abnormal limb bone morphology", - "zone of bone organ", - "appendicular skeleton", - "limb endochondral element", - "limb skeleton subdivision", - "curved anatomical entity", - "zone of long bone", - "Hyperchloremic metabolic acidosis", - "abnormality of cardiovascular system physiology", - "limb", - "Elevated urinary carboxylic acid", - "skeleton", - "Neoplasm by anatomical site", - "p-block molecular entity", - "Hypophosphatemia", - "articular system", - "endochondral bone", - "subdivision of skeleton", - "Bowing of the long bones", - "anatomical structure", - "anatomical conduit", - "shape anatomical entity in independent continuant", - "appendage girdle complex", - "abnormal hindlimb zeugopod morphology", - "organism subdivision", - "respiratory tract", - "epithelium", - "system", - "subdivision of tube", - "Abnormality of the knee", - "paired limb/fin segment", - "blood vessel", - "multi-limb segment region", - "kidney", - "articulation", - "endochondral element", - "carboxamide", - "pelvic complex", - "Abnormality of limbs", - "curvature anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "bone element", - "paired limb/fin", - "vessel", - "diaphysis", - "abnormal leg", - "abnormal renal system morphology", - "abnormal hindlimb joint", - "non-functional anatomical entity", - "thoracic segment organ", - "abnormal independent continuant glucose level", - "abnormal hindlimb zeugopod, curved", - "abnormal anatomical entity morphology in the pelvic complex", - "phenotype", - "Stage 5 chronic kidney disease", - "mesoderm-derived structure", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal anatomical entity, curved", - "abnormal anatomical entity morphology in the independent continuant", - "increased level of protein polypeptide chain in urine", - "Abnormal joint morphology", - "limb segment", - "organ part", - "abnormal blood phosphate level", - "multicellular organismal process", - "curved anatomical entity in independent continuant", - "Abnormality of the lower limb", - "abnormal appendicular skeleton morphology", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "abnormal upper urinary tract", - "musculoskeletal system", - "curvature anatomical entity", - "abnormal skeletal system", - "Phenotypic abnormality", - "phenotype by ontology source", - "Abnormal urine carboxylic acid level", - "abnormal phosphate level", - "decreased level of chemical entity", - "hindlimb joint", - "oxoacid derivative", - "trunk", - "organonitrogen compound", - "appendage", - "tube", - "Abnormality of acid-base homeostasis", - "Metabolic acidosis", - "polypeptide", - "Abnormality of bone mineral density", - "abnormal limb", - "material anatomical entity", - "skeleton of limb", - "Abnormal pulmonary interstitial morphology", - "nephron", - "curved long bone", - "occurrent", - "organ", - "posterior region of body", - "multicellular anatomical structure", - "subdivision of organism along appendicular axis", - "anatomical collection", - "All", - "abnormal lung morphology", - "aldohexose", - "zone of organ", - "abnormal long bone morphology", - "Abnormality of the calf", - "skeletal element", - "zeugopod", - "chemical homeostasis", - "Genu valgum", - "limb joint", - "limb bone", - "Renal fibrosis", - "abnormal hindlimb morphology", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", - "amide", - "Abnormality of limb bone", - "Abnormal respiratory system morphology", - "shape anatomical entity", - "abnormal knee morphology", - "lower limb segment", - "abnormal skeletal joint morphology", - "curved hindlimb zeugopod", - "Organic aciduria", - "Abnormal diaphysis morphology", - "Abnormal DLCO", - "increased level of organic molecular entity in independent continuant", - "abnormal limb bone", - "shape long bone", - "lung fibrosis", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "subdivision of skeletal system", - "entity", - "abnormal diaphysis morphology", - "lateral structure", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal knee morphology", - "Hyperchloremic acidosis", - "Abnormal bone structure", - "Abnormal renal physiology", - "chalcogen molecular entity", - "abnormal knee", - "abnormal anatomical entity mass density", - "decreased level of chemical entity in blood", - "shape hindlimb zeugopod", - "abnormal anatomical entity", - "abnormal shape of continuant", - "independent continuant", - "epithelial tube", - "respiratory system", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "abnormality of respiratory system physiology", - "polyatomic entity", - "abnormality of anatomical entity physiology", - "abnormal respiratory system", - "Abnormality of the respiratory system", - "Abnormality of the urinary system physiology", - "abnormal blood monoatomic ion level", - "respiration organ", - "increased bodily fluid acid level", - "anatomical entity fibrosis", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "phosphorus oxoacid derivative", - "decreased level of phosphate in blood", - "primary amide", - "elemental molecular entity", - "organism substance", - "decreased level of chemical entity in independent continuant", - "Abnormal cardiovascular system physiology", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "pnictogen molecular entity", - "abnormal chemical homeostasis", - "process", - "abnormal role independent continuant level", - "carbohydrate", - "biological_process", - "increased bodily fluid role level", - "phosphate", - "abnormal multicellular organism chemical entity level", - "circulatory system", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "abnormal respiratory system morphology", - "viscus", - "appendicular skeletal system", - "abnormal chemical entity level", - "abnormal blood chemical entity level", - "monoatomic entity", - "abnormal acid independent continuant level", - "abnormal nephron morphology", - "Rickets", - "multi organ part structure", - "hemolymphoid system", - "abnormal bone element mass density", - "abnormal role bodily fluid level", - "abnormal biological_process", - "chemical entity", - "increased independent continuant acid level", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "metabolic process", - "bodily fluid", - "ion", - "phosphorus molecular entity", - "paired limb/fin skeleton", - "heteroatomic molecular entity", - "organic acid", - "abnormal hindlimb zeugopod", - "ossification", - "Abnormal circulating metabolite concentration", - "abnormal kidney morphology", - "main body axis", - "Neoplasm of the lung", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "abnormality of kidney physiology", - "main group molecular entity", - "haemolymphatic fluid", - "Abnormality of lower limb joint", - "anatomical system", - "Abnormal lung morphology", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "Abnormal urine protein level", - "increased level of glucose in urine", - "Decreased DLCO", - "body proper", - "trunk region element", - "subdivision of organism along main body axis", - "Bowing of the legs", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "lung", - "lower respiratory tract", - "pelvic appendage", - "endoderm-derived structure", - "pair of lungs", - "kidney epithelium", - "phosphorus oxoacids and derivatives", - "Abnormal blood phosphate concentration", - "compound organ", - "respiratory airway", - "hematopoietic system", - "multicellular organism", - "thoracic cavity element", - "Abnormality on pulmonary function testing", - "abnormal homeostatic process", - "proximo-distal subdivision of respiratory tract", - "knee", - "Hypophosphatemic rickets", - "Decreased bone element mass density", - "increased level of chemical entity in bodily fluid", - "abnormal acid bodily fluid level", - "increased level of chemical entity", - "Acidosis", - "increased level of chemical entity in independent continuant", - "increased independent continuant role level" - ], - "has_phenotype_count": 14, - "highlight": null, - "score": null - }, - { - "id": "HP:0001994", - "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", - "full_name": null, - "deprecated": null, - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": [ - "MSH:D005198", - "SNOMEDCT_US:236468006", - "SNOMEDCT_US:44673006", - "UMLS:C0341703" - ], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "De toni-fanconi-debre syndrome", - "Renal tubular fanconi syndrome" - ], - "uri": null, - "iri": null, - "namespace": "HP", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0010953", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group E", - "full_name": null, - "deprecated": null, - "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", - "xref": [ - "DOID:0111084", - "GARD:15324", - "NCIT:C125709", - "OMIM:600901", - "UMLS:C3160739" - ], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FANCE", - "FANCE Fanconi anaemia", - "FANCE Fanconi anemia", - "Fanconi Anemia, complementation group type E", - "Fanconi anaemia caused by mutation in FANCE", - "Fanconi anaemia complementation group type E", - "Fanconi anemia caused by mutation in FANCE", - "Fanconi anemia complementation group E", - "Fanconi anemia complementation group type E", - "Fanconi anemia, complementation group E", - "face" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0000086", - "HP:0001875", - "HP:0009777", - "HP:0001249", - "HP:0000252", - "HP:0001627", - "HP:0000957", - "HP:0000815", - "HP:0000104", - "HP:0001017", - "HP:0001876", - "HP:0000028", - "HP:0003974", - "HP:0001873", - "HP:0009778", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0001263", - "HP:0003221", - "HP:0009943", - "HP:0000978", - "HP:0000953", - "HP:0001903", - "HP:0001909", - "HP:0000081", - "HP:0004322", - "HP:0000486", - "HP:0000365", - "HP:0003214", - "HP:0003213", - "HP:0000085" - ], - "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Hyperpigmentation of the skin", - "Anemia", - "Leukemia", - "Duplicated collecting system", - "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney" - ], - "has_phenotype_closure": [ - "HP:0000085", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", - "UPHENO:0041629", - "GO:0051716", - "GO:0006950", - "HP:0003213", - "UPHENO:0051124", - "HP:0003254", - "UPHENO:0049964", - "GO:0007049", - "GO:0051319", - "UPHENO:0050625", - "HP:0000364", - "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", - "UBERON:0002105", - "UPHENO:0041075", - "GO:0007600", - "GO:0007610", - "HP:0000708", - "HP:0000549", - "HP:0000486", - "UPHENO:0049622", - "NBO:0000444", - "HP:0000496", - "UBERON:0010222", - "UPHENO:0080585", - "UBERON:0006800", - "BFO:0000141", - "UPHENO:0079828", - "HP:0011018", - "UBERON:0000015", - "GO:0050896", - "UPHENO:0049586", - "NBO:0000338", - "UBERON:0000466", - "UPHENO:0081424", - "UPHENO:0080351", - "UPHENO:0000543", - "UPHENO:0081423", - "UPHENO:0075159", - "HP:0000081", - "UPHENO:0075787", - "HP:0002664", - "HP:0011793", - "HP:0001909", - "HP:0004377", - "HP:0002597", - "HP:0001892", - "HP:0011029", - "UPHENO:0002678", - "UBERON:0000477", - "HP:0000978", - "UPHENO:0051097", - "HP:0001933", - "UBERON:0007798", - "GO:0003013", - "GO:0008015", - "HP:0009943", - "HP:0011314", - "HP:0009602", - "UPHENO:0087369", - "HP:0009942", - "UBERON:0003221", - "UBERON:0012357", - "UBERON:0015023", - "UBERON:0015024", - "UBERON:5101463", - "UPHENO:0021800", - "UPHENO:0084447", - "GO:0022403", - "UBERON:0004249", - "UBERON:5106048", - "UBERON:5102389", - "UBERON:0010688", - "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0080581", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0000541", - "UBERON:0001436", - "GO:0010468", - "NBO:0000313", - 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"HP:0025461", - "UPHENO:0009399", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "UPHENO:0087089", - "CL:0000764", - "UBERON:0001474", - "CL:0000329", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", - "UPHENO:0086045", - "HP:0011875", - "UPHENO:0085042", - "HP:0012145", - "UPHENO:0087355", - "CL:0000457", - "UPHENO:0087339", - "CL:0000458", - "UBERON:0001690", - "UBERON:0015410", - "UPHENO:0086173", - "CL:0000151", - "UPHENO:0081755", - "UBERON:0002471", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0084761", - "HP:0001872", - "UBERON:0011584", - "UPHENO:0084987", - "UPHENO:0052231", - "HP:0000028", - "HP:0001510", - "UPHENO:0086023", - "HP:0004742", - "UBERON:0003620", - "HP:0012130", - "CL:0000300", - "UPHENO:0005597", - "CL:0000586", - "HP:0001627", - "UPHENO:0049970", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "GO:0003006", - "HP:0001000", - "UPHENO:0080382", - "UPHENO:0085356", - 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"UPHENO:0078452", - "HP:0005918", - "HP:0012243", - "UBERON:0013702", - "UPHENO:0080187", - "UBERON:0000955", - "UBERON:0010703", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0010912", - "CL:0000094", - "HP:0040072", - "UPHENO:0079872", - "UPHENO:0009341", - "UBERON:0001423", - "UPHENO:0086956", - "HP:0040070", - "UBERON:0002405", - "UPHENO:0021561", - "UBERON:0003606", - "UPHENO:0005651", - "UPHENO:0076718", - "UBERON:0002104", - "HP:0006503", - "HP:0009142", - "UBERON:0004535", - "UPHENO:0002751", - "UBERON:0002495", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "UBERON:0010741", - "UPHENO:0069254", - "UBERON:0000949", - "UBERON:0003466", - "UPHENO:0012541", - "HP:0004325", - "UPHENO:0031839", - "UPHENO:0046411", - "UBERON:0004381", - "UPHENO:0011498", - "UPHENO:0046624", - "UPHENO:0008668", - "UPHENO:0068971" - ], - "has_phenotype_closure_label": [ - "Horseshoe kidney", - "shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", - "abnormal response to stress", - "DNA repair", - "response to stress", - "abnormal cellular response to stress", - "abnormal DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Abnormality of the cell cycle", - "G2 phase", - "cell cycle phase", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", - "ear", - "abnormal ear", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "anatomical line", - "body part movement", - "immaterial anatomical entity", - "behavior", - "concave 3-D shape anatomical entity", - "Abnormality of eye movement", - "response to stimulus", - "eye movement", - "abnormal eye movement", - "Strabismus", - "behavior process", - "abnormal response to stimulus", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "delayed biological_process", - "abnormal DNA damage response", - "delayed growth", - "abnormal size of multicellular organism", - "Neoplasm", - "Hematological neoplasm", - "vasculature", - "Abnormality of the vasculature", - "blood circulation", - "Bruising susceptibility", - "Subcutaneous hemorrhage", - "abnormality of cardiovascular system physiology", - "Generalized abnormality of skin", - "Internal hemorrhage", - "Abnormality of blood circulation", - "Vascular skin abnormality", - "vascular system", - "Abnormal bleeding", - "abnormal anatomical entity morphology in the skeleton of manus", - "manual digit bone", - "Duplication of bones involving the upper extremities", - "phalanx endochondral element", - "manual digit phalanx endochondral element", - "Duplication of phalanx of hand", - "abnormal phalanx morphology", - "acropodial skeleton", - "abnormal phalanx of manus morphology", - "Abnormality of thumb phalanx", - "phalanx", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "digitopodium bone", - "skeleton of manual acropodium", - "manual digitopodium bone", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "regulation of biosynthetic process", - "individual digit of digitopodial skeleton", - "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "Abnormality of DNA repair", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "decreased height of the anatomical entity", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "Duplicated collecting system", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "cellular response to stimulus", - "Chromosomal breakage induced by crosslinking agents", - "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormal growth", - "decreased anatomical entity mass", - "abnormal cell cycle", - "Duplication of thumb phalanx", - "abnormality of anatomical entity mass", - "sensory system", - "decreased size of the eyeball of camera-type eye", - "simple eye", - "eyeball of camera-type eye", - "camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "abnormal camera-type eye morphology", - "Abnormality of the eye", - "abnormal face", - "orbital region", - "abnormal eyeball of camera-type eye", - "abnormal size of eyeball of camera-type eye", - "visual system", - "Abnormality of the orbital region", - "Abnormality of the face", - "sense organ", - "Microphthalmia", - "abnormal enucleated reticulocyte morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Non-obstructive azoospermia", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "system process", - "Duplication of hand bones", - "abnormal nitrogen compound metabolic process", - "nervous system process", - "axial skeleton plus cranial skeleton", - "Abnormal appendicular skeleton morphology", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "acropodium region", - "Intellectual disability", - "bone marrow", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "segment of manus", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal immune system morphology", - "genitourinary system", - "decreased qualitatively reproductive process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "paired limb/fin skeleton", - "arm", - "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "Abnormal finger phalanx morphology", - "pigmentation", - "bone of appendage girdle complex", - "abnormal limb morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "entity", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal autopod region morphology", - "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "cell", - "absent anatomical entity in the renal system", - "skeleton", - "male gamete generation", - "absent anatomical entity", - "Abnormal digit morphology", - "appendicular skeletal system", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", - "agenesis of anatomical entity", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "abnormal digit morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of manus", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", - "skeletal system", - "motile cell", - "aplastic anatomical entity", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "abnormally decreased number of myeloid cell", - "face", - "aplasia or hypoplasia of manual digit", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "regulation of metabolic process", - "Decreased body weight", - "manual digit 1", - "autopodial extension", - "digit plus metapodial segment", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", - "excretory system", - "bone marrow cell", - "circulatory system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "abnormal myeloid cell morphology", - "increased biological_process", - "sexual reproduction", - "Macule", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "quality", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "DNA damage response", - "lateral structure", - "abnormal vasculature", - "abnormal genitourinary system", - "changed developmental process rate", - "Abnormal cerebral morphology", - "abnormal blood circulation", - "arm bone", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "abnormal hematopoietic system", - "Renal agenesis", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "nucleate cell", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "renal system", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "skeletal element", - "zeugopod", - "Abnormal cellular immune system morphology", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "regional part of nervous system", - "abdominal segment element", - "abnormal reproductive system morphology", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "hemolymphoid system", - "biological_process", - "myeloid leukocyte", - "entire sense organ system", - "absent radius bone in the independent continuant", - "Abnormal localization of kidney", - "biological regulation", - "Global developmental delay", - "abdominal segment of trunk", - "renal collecting system", - "Ectopic kidney", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal immune system", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", - "abnormal renal system morphology", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "absent kidney in the renal system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "reproduction", - "absent anatomical entity in the multicellular organism", - "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", - "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Aplasia/hypoplasia involving the skeleton", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "subdivision of trunk", - "absent manual digit", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "body proper", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "continuant", - "abnormality of ear physiology", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", - "cellular metabolic process", - "Abnormality of neutrophils", - "leukocyte", - "abnormal gamete generation", - "protein-containing material entity", - "gamete generation", - "abnormally decreased number of cell in the independent continuant", - "abnormal neutrophil", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "phalanx of manus", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", - "abnormal nervous system", - "paired limb/fin segment", - "abnormality of camera-type eye physiology", - "immune system", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "Absent forearm bone", - "Leukemia", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "blood cell", - "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", - "Abnormal myeloid cell morphology", - "U-shaped kidney", - "digit 1 or 5", - "skeleton of manual digitopodium", - "primary circulatory organ", - "granulocyte", - "Complete duplication of phalanx of hand", - "limb bone", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "viscus", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "aplastic manual digit 1", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal granulocyte morphology", - "abnormally decreased number of granulocyte", - "manual digit 1 plus metapodial segment", - "abdomen", - "neutrophil", - "Complete duplication of thumb phalanx", - "manual digit 1 phalanx", - "abnormal forelimb zeugopod bone", - "Abnormal myeloid leukocyte morphology", - "Pancytopenia", - "abnormal head", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", - "organism", - "programmed DNA elimination", - "obsolete cell", - "internal male genitalia", - "Abnormal granulocyte count", - "eye", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "abnormal anatomical entity morphology in the pectoral complex", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal hematopoietic cell morphology", - "biological phase", - "autopod bone", - "mesoderm-derived structure", - "abnormal manus", - "craniocervical region", - "abnormal forebrain morphology", - "multi-tissue structure", - "abnormal craniocervical region morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", - "Decreased head circumference", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "abnormal head morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "spermatogenesis", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "negative regulation of cellular metabolic process", - "Eukaryota", - "kinesthetic behavior", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "manual digit 1 phalanx endochondral element", - "tissue", - "absent anatomical entity in the semen", - "limb skeleton subdivision", - "skull", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "absent sperm in the semen", - "bone of pectoral complex", - "decreased length of anatomical entity", - "autopod endochondral element", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb", - "Abnormal forebrain morphology", - "multicellular organismal reproductive process", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Abnormal renal morphology", - "abnormal external genitalia", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "reproductive organ", - "abnormal skull morphology", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "heart plus pericardium", - "Cryptorchidism", - "thoracic segment organ", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "circulatory organ", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Abnormality of cardiovascular system morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "integumental system", - "integument", - "absent radius bone in the forelimb", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Growth delay", - "kidney", - "abnormal biological_process", - "Abnormality of skin morphology", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Neutropenia", - "reproductive structure", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "germ line cell", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal integument", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "limb segment", - "absent sperm", - "abnormal endocrine system", - "abnormally decreased number of reticulocyte", - "Abnormality of the endocrine system", - "Abnormality of reproductive system physiology", - "gamete", - "male gamete", - "abnormally decreased functionality of the gonad", - "Abnormality of the genital system", - "glandular system", - "absent kidney", - "subdivision of skeletal system", - "abnormally decreased number of neutrophil", - "absent kidney in the independent continuant", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "manus bone", - "radius bone", - "Abnormality of the hand", - "Anemia", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal cellular process", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", - "anucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "cellular organisms", - "Abnormal neutrophil count", - "obsolete multicellular organism reproduction", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "digit 1", - "abnormal platelet morphology", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "developmental process involved in reproduction", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "abnormal testis morphology", - "forelimb zeugopod", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "germ cell", - "absent gamete", - "sperm", - "abnormal gamete", - "Reticulocytopenia", - "organism substance", - "haploid cell", - "disconnected anatomical group", - "abnormal cell", - "male reproductive organ", - "internal genitalia", - "abnormal internal genitalia", - "platelet", - "absent sperm in the independent continuant", - "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "Abnormal external genitalia", - "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "interphase", - "semen", - "Abnormal testis morphology", - "male germ cell", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "male organism", - "abnormal granulocyte morphology", - "Azoospermia", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "testis", - "external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "Aplasia involving bones of the upper limbs", - "eukaryotic cell", - "abnormal limb long bone morphology", - "absent forelimb zeugopod bone", - "forelimb zeugopod skeleton", - "abnormal size of skull", - "forelimb long bone", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", - "Pallor", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "Absent radius", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal behavior", - "radius endochondral element", - "sensory perception of mechanical stimulus", - "abnormally decreased number of anatomical entity", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormal radius bone morphology", - "aplastic forelimb zeugopod bone", - "Short finger", - "Abnormal reticulocyte morphology", - "decreased length of anatomical entity in independent continuant", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "decreased length of digit", - "skeleton of digitopodium", - "Short digit", - "reticulocyte" - ], - "has_phenotype_count": 32, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0013566", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group L", - "full_name": null, - "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", - "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FANCL", - "FANCL Fanconi anaemia", - "FANCL Fanconi anemia", - "Fanconi Anemia, complementation Group 50", - "Fanconi Anemia, complementation group type 50", - "Fanconi anaemia caused by mutation in FANCL", - "Fanconi anaemia complementation group type L", - "Fanconi anemia caused by mutation in FANCL", - "Fanconi anemia complementation group L", - "Fanconi anemia complementation group type L", - "Fanconi anemia, complementation group L" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0040012", - "HP:0007018", - "HP:0000470", - "HP:0008551", - "HP:0009777", - "HP:0004590", - "HP:0002575", - "HP:0000238", - "HP:0000369", - "HP:0000465", - "HP:0000957", - "HP:0002023", - "HP:0000582", - "HP:0001510", - "HP:0000316", - "HP:0001776", - "HP:0000347", - "HP:0003974", - "HP:0001511", - "HP:0009892", - "HP:0000151", - "HP:0001263", - "HP:0003221", - "HP:0002032", - "HP:0011968", - "HP:0001321", - "HP:0000175", - "HP:0000054", - "HP:0000437", - "HP:0001903", - "HP:0000122", - "HP:0002188", - "HP:0000568", - "HP:0000431", - "HP:0005528", - "HP:0000089" - ], - "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", - "Short neck", - "Microtia", - "Absent thumb", - "Hypoplastic sacrum", - "Tracheoesophageal fistula", - "Hydrocephalus", - "Low-set ears", - "Webbed neck", - "Cafe-au-lait spot", - "Anal atresia", - "Upslanted palpebral fissure", - "Growth delay", - "Hypertelorism", - "Bilateral talipes equinovarus", - "Micrognathia", - "Absent radius", - "Intrauterine growth retardation", - "Anotia", - "Aplasia of the uterus", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Esophageal atresia", - "Feeding difficulties", - "Cerebellar hypoplasia", - "Cleft palate", - "Micropenis", - "Depressed nasal tip", - "Anemia", - "Unilateral renal agenesis", - "Delayed CNS myelination", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", - "Renal hypoplasia" - ], - "has_phenotype_closure": [ - "UPHENO:0081210", - "UBERON:0000479", - "HP:0005528", - "HP:0002715", - "HP:0005561", - "UPHENO:0085195", - "UPHENO:0087355", - "UPHENO:0087123", - "HP:0012145", - "UPHENO:0006147", - "UPHENO:0087278", - "UPHENO:0081800", - "UBERON:0008340", - "HP:0000431", - "UPHENO:0006161", - "HP:0000568", - "HP:0100887", - "HP:0008056", - "UPHENO:0000552", - "UPHENO:0050372", - "GO:0048709", - "GO:0048869", - "HP:0012448", - "GO:0007399", - "GO:0032291", - "GO:0022008", - "GO:0010001", - "UBERON:0000916", - "UPHENO:0083952", - "UBERON:8450002", - "UPHENO:0026980", - "UPHENO:0008593", - "UPHENO:0076779", - "UPHENO:0087427", - "HP:0000122", - "GO:0030154", - "UBERON:0002113", - "UBERON:0011143", - "UPHENO:0085118", - "UBERON:0002390", - "HP:0020047", - "GO:0014003", - "HP:0001877", - "CL:0000232", - "CL:0000763", - "HP:0012130", - "HP:0001903", - "UPHENO:0004459", - "HP:0000366", - "UPHENO:0082454", - "UPHENO:0041203", - "UPHENO:0041080", - "UPHENO:0075219", - "HP:0005105", - "UPHENO:0087430", - "UPHENO:0041458", - "UBERON:0002268", - "UPHENO:0081585", - "UPHENO:0082356", - "UBERON:0000004", - "UPHENO:0082467", - "HP:0000436", - "HP:0010935", - "UPHENO:0002907", - "HP:0003241", - "UBERON:0003101", - "UBERON:0004053", - "UBERON:0008811", - "HP:0008736", - "UBERON:0000989", - "HP:0010461", - "UPHENO:0050406", - "HP:0000811", - "UBERON:0001008", - "UPHENO:0081320", - "UPHENO:0002948", - "UPHENO:0087643", - "HP:0000054", - "HP:0000032", - "UPHENO:0087802", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0080209", - "UPHENO:0068843", - "HP:0000175", - "HP:0000202", - "UBERON:0004089", - "UPHENO:0076786", - "UBERON:0002553", - "UBERON:0001716", - "UBERON:0000464", - "UBERON:0001709", - "UPHENO:0075655", - "UPHENO:0033635", - "HP:0011283", - "NCBITaxon:6072", - "UPHENO:0076720", - "UPHENO:0080089", - "NCBITaxon:131567", - "UPHENO:0020013", - "UBERON:0004732", - "UBERON:0002028", - "UBERON:0002037", - "UBERON:0001895", - "NCBITaxon:33154", - "UPHENO:0081601", - "GO:0007417", - "UBERON:0004176", - "UBERON:0004733", - "NCBITaxon:1", - "HP:0002977", - "UBERON:0000063", - "UBERON:0000073", - "NCBITaxon:2759", - "HP:0011968", - 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"UBERON:0000978", - "UPHENO:0049367", - "HP:0000465", - "UBERON:0003460", - "UPHENO:0080087", - "HP:0012733", - "HP:0001034", - "HP:0000050", - "UPHENO:0054970", - "UPHENO:0080221", - "UBERON:0002416", - "UBERON:0000481", - "HP:0000957", - "HP:0033127", - "HP:0007400", - "BFO:0000001", - "UPHENO:0002635", - "UPHENO:0074589", - "UPHENO:0026954", - "GO:0043473", - "UPHENO:0076740", - "HP:0000953", - "HP:0011121", - "HP:0006265", - "UPHENO:0078606", - "HP:0002023", - "UPHENO:0087339", - "HP:0034915", - "HP:0004378", - "HP:0003319", - "UPHENO:0046505", - "UPHENO:0086644", - "HP:0009380", - "UPHENO:0074228", - "GO:0006807", - "UPHENO:0002839", - "UPHENO:0062527", - "UPHENO:0086824", - "UBERON:0000161", - "UBERON:0034921", - "HP:0032039", - "HP:0000422", - "UPHENO:0086932", - "UPHENO:0086699", - "UBERON:0001819", - "UPHENO:0087472", - "UBERON:0001004", - "HP:0000315", - "HP:0000271", - "UPHENO:0002910", - "UBERON:0000970", - "UBERON:0004742", - "UPHENO:0025100", - "HP:0000492", - "UPHENO:0003058", - "UBERON:0000025", - "UBERON:0004088", - "HP:0010938", - "GO:0043170", - "HP:0008050", - "UPHENO:0076761", - "HP:0001507", - "HP:0001510", - "UPHENO:0049874", - "UBERON:0000466", - "UPHENO:0002598", - "HP:0100886", - "UBERON:0010230", - "HP:0011400", - "HP:0012372", - "OBI:0100026", - "UPHENO:0001072", - "HP:0000478", - "UBERON:5001463", - "UPHENO:0021474", - "UPHENO:0080158", - "UPHENO:0080196", - "UPHENO:0063599", - "UBERON:0010222", - "UPHENO:0087816", - "HP:0001762", - "HP:0001776", - "UBERON:0010709", - "HP:0005656", - "UPHENO:0072195", - "HP:0002814", - "UPHENO:0050008", - "HP:0006496", - "UPHENO:0003070", - "UPHENO:0081575", - "HP:0000925", - "UBERON:0008784", - "HP:0002692", - "UBERON:0004756" - ], - "has_phenotype_closure_label": [ - "decreased size of the kidney", - "Bone marrow hypocellularity", - "bone marrow", - "abnormal immune system morphology", - "bone cell", - "tissue", - "Abnormality of bone marrow cell morphology", - "abnormal immune system", - "increased width of anatomical entity", - "abnormal nasal bridge morphology", - "abnormal snout morphology", - "increased width of nasal bridge", - "increased width of the anatomical entity in independent continuant", - "snout", - "Abnormality of globe size", - "Aplasia/Hypoplasia affecting the eye", - "central nervous system myelination", - "gliogenesis", - "decreased size of the eyeball of camera-type eye", - "oligodendrocyte differentiation", - "oligodendrocyte development", - "nervous system development", - "glial cell differentiation", - "abnormal myelination in independent continuant", - "delayed central nervous system myelination", - "abnormal central nervous system myelination in independent continuant", - "abnormal biological_process in central nervous system", - "Abnormal myelination", - "abnormal hematopoietic system morphology", - "system development", - "axon ensheathment", - "abnormal axon ensheathment in central nervous system in independent continuant", - "cellular developmental process", - "abdomen element", - "Abnormality of the kidney", - "absent anatomical entity in the renal system", - "absent kidney", - "cavitated compound organ", - "excretory system", - "abnormal renal system", - "renal system", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "abnormal upper urinary tract", - "abnormal hematopoietic system", - "hematopoietic system", - "abnormal cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormal erythrocyte morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "abnormal size of eyeball of camera-type eye", - "nose tip", - "nose", - "Abnormality of the nose", - "flattened anatomical entity in independent continuant", - "olfactory organ", - "curvature anatomical entity", - "Abnormal external nose morphology", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "flat nose tip", - "external male genitalia", - "Hypoplasia of penis", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal external genitalia", - "decreased size of the external male genitalia", - "Abnormal renal morphology", - "abnormal external genitalia", - "External genital hypoplasia", - "Abnormal penis morphology", - "abnormal penis", - "male reproductive system", - "anatomical cavity", - "abnormal incomplete closing of the secondary palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal midface morphology", - "Orofacial cleft", - "abnormal roof of mouth morphology", - "Craniofacial cleft", - "Abnormal metencephalon morphology", - "Cerebellar hypoplasia", - "Eumetazoa", - "regional part of brain", - "segmental subdivision of nervous system", - "abnormal cerebellum morphology", - "hindbrain", - "external genitalia", - "cerebellum", - "metencephalon", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal metencephalon morphology", - "Abnormal midface morphology", - "regional part of nervous system", - "delayed myelination", - "abnormal hindbrain morphology", - "cerebellum hypoplasia", - "root", - "Feeding difficulties", - "abnormality of digestive system physiology", - "Esophageal atresia", - "esophagus atresia", - "Chromosomal breakage induced by crosslinking agents", - "Neurodevelopmental abnormality", - "Abdominal symptom", - "Abnormal reproductive system morphology", - "abnormal kidney", - "abnormal reproductive system", - "bone marrow cell", - "internal female genitalia", - "Wide nasal bridge", - "abnormal internal female genitalia morphology", - "female organism", - "abnormal female reproductive system", - "Abnormality of the uterus", - "internal genitalia", - "aplasia or hypoplasia of eyeball of camera-type eye", - "uterus", - "abnormal uterus", - "genitourinary system", - "Abnormal morphology of female internal genitalia", - "Aplasia of the uterus", - "reproductive structure", - "abnormal reproductive system morphology", - "female reproductive system", - "aplasia or hypoplasia of uterus", - "oviduct", - "erythrocyte", - "subdivision of oviduct", - "absent anatomical entity in the head", - "absent external ear", - "Anotia", - "absent external ear in the head", - "abnormal biological_process in nervous system", - "absent anatomical entity in the ear", - "decreased embryo development", - "changed embryo development rate", - "multicellular organism development", - "abnormal genitourinary system", - "changed developmental process rate", - "decreased qualitatively developmental process", - "decreased developmental process", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Intrauterine growth retardation", - "Hypoplastic male external genitalia", - "anatomical structure development", - "abnormal embryo development", - "aplastic forelimb zeugopod bone", - "Aplasia/Hypoplasia of the radius", - "Aplasia involving bones of the extremities", - "Aplasia/Hypoplasia of the cerebellum", - "forelimb zeugopod", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "limb long bone", - "Aplasia/hypoplasia involving forearm bones", - "embryo development", - "abnormal radius bone morphology", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormality of the female genitalia", - "abnormal forelimb zeugopod morphology", - "arm bone", - "forelimb long bone", - "forelimb zeugopod skeleton", - "delayed biological_process in central nervous system", - "Abnormal forearm bone morphology", - "absent forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", - "zeugopod", - "Abnormality of the genital system", - "intramembranous bone", - "Renal hypoplasia", - "mandible hypoplasia", - "bone of lower jaw", - "neural crest-derived structure", - "dentary", - "aplasia or hypoplasia of skull", - "abnormal mouth", - "primary subdivision of skull", - "abnormal hematopoietic cell morphology", - "primary subdivision of cranial skeletal system", - "Micrognathia", - "abnormal male reproductive system", - "abnormal mouth morphology", - "cranial skeletal system", - "dermal bone", - "jaw skeleton", - "facial skeleton", - "immune system", - "facial bone", - "mandible", - "Abnormal mandible morphology", - "paired limb/fin segment", - "multi-limb segment region", - "Anemia", - "radius bone", - "Abnormality of the hand", - "decreased size of the external ear", - "agenesis of anatomical entity", - "paired limb/fin", - "skeleton of lower jaw", - "abnormal digit morphology", - "Aplasia/Hypoplasia of fingers", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "cell development", - "skeleton of manus", - "Hypertelorism", - "pectoral appendage skeleton", - "abnormal manus morphology", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "negative regulation of macromolecule biosynthetic process", - "abnormal arm", - "head", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal nose", - "Aplasia/Hypoplasia of the mandible", - "aplastic anatomical entity", - "anterior region of body", - "appendage", - "subdivision of organism along appendicular axis", - "autopod region", - "digit 1", - "Hyperactivity", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "sensory system", - "ear", - "anatomical entity hypoplasia in face", - "non-connected functional system", - "manual digit", - "Abnormal eye morphology", - "abnormal head morphology", - "Abnormality of the outer ear", - "multi-tissue structure", - "bodily fluid", - "abnormal external nose morphology", - "absent radius bone in the independent continuant", - "neck bone", - "entire sense organ system", - "continuant", - "orbital region", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormal tracheobronchial morphology", - "Aplasia/hypoplasia of the extremities", - "Hypoplastic facial bones", - "forelimb bone", - "anatomical entity hypoplasia", - "Abnormality of brain morphology", - "abnormal size of anatomical entity", - "Abnormality of the vertebral column", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "trunk", - "Macule", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "postcranial axial skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "cervical vertebra", - "jaw region", - "abnormal head", - "endochondral bone", - "subdivision of skeleton", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "dorsal part of neck", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "Aplasia/Hypoplasia of the ear", - "external ear", - "abnormal neck morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "vertebral column", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "paired limb/fin skeleton", - "skeleton of limb", - "Delayed myelination", - "Abnormality of skin pigmentation", - "shape nose tip", - "Abnormality of globe location", - "Aplasia/Hypoplasia involving the central nervous system", - "Short neck", - "skeleton", - "cervical vertebra endochondral element", - "decreased length of neck", - "Abnormality of head or neck", - "bone of dorsum", - "external soft tissue zone", - "digit plus metapodial segment", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal bone marrow cell morphology", - "bone of free limb or fin", - "bone element", - "Abnormality of the eye", - "abnormal pes morphology", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "decreased size of the anatomical entity in the independent continuant", - "system", - "abnormal female reproductive system morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "neurogenesis", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "skeletal element", - "nucleic acid metabolic process", - "Abnormal myeloid cell morphology", - "leg", - "process", - "Abnormality of the ear", - "eyelid", - "Renal agenesis", - "abnormal respiratory system", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "entity", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "biological_process", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "Abnormal neck morphology", - "negative regulation of gene expression", - "response to stimulus", - "flattened anatomical entity", - "bone element hypoplasia in face", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "vestibulo-auditory system", - "protein-DNA complex organization", - "Abnormal anus morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "cell differentiation", - "appendicular skeletal system", - "Eukaryota", - "negative regulation of cellular metabolic process", - "cervical region", - "dorsum", - "Abnormal nasal bridge morphology", - "erythroid lineage cell", - "non-material anatomical boundary", - "postcranial axial skeletal system", - "organelle organization", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of the gastrointestinal tract", - "quality", - "aplasia or hypoplasia of ear", - "absent external ear in the independent continuant", - "regulation of cellular biosynthetic process", - "proximo-distal subdivision of respiratory tract", - "behavior process", - "absent anatomical entity in the reproductive system", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "lateral structure", - "regulation of biological process", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal DNA metabolic process", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Depressed nasal tip", - "Abnormality of mental function", - "abnormal cellular process", - "nasal bridge", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "Webbed neck", - "Talipes", - "cellular metabolic process", - "Atypical behavior", - "simple eye", - "cellular component organization", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "midface", - "abnormal cellular component organization", - "abnormal trachea morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "negative regulation of biological process", - "absent digit", - "glial cell development", - "anatomical space", - "Abnormal hindbrain morphology", - "phenotype", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal face", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormal respiratory system morphology", - "cervical region of vertebral column", - "aplasia or hypoplasia of external ear", - "pes", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "obsolete nitrogen compound metabolic process", - "lower jaw region", - "abnormal digit", - "thoracic segment of trunk", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "metabolic process", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "Abnormality of the palpebral fissures", - "pelvic region element", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "secondary palate", - "organism", - "irregular bone", - "Chromosome breakage", - "abnormal chromatin organization", - "Abnormal cellular phenotype", - "curvature anatomical entity in independent continuant", - "negative regulation of cellular process", - "abnormal limb", - "Abnormality of digestive system morphology", - "radius endochondral element", - "abnormal behavior", - "Abnormal sacrum morphology", - "aplastic manual digit 1", - "membrane bone", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", - "independent continuant", - "Microtia", - "Abnormality of the neck", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "ensheathment of neurons", - "regulation of cellular process", - "manus", - "abnormal eyelid morphology", - "cellular process", - "Abnormal digit morphology", - "neck", - "abnormal central nervous system myelination", - "organ subunit", - "negative regulation of cellular biosynthetic process", - "forelimb zeugopod bone", - "nervous system", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "abnormal anatomical entity", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "anatomical system", - "upper digestive tract", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "orifice", - "multicellular organism", - "regulation of macromolecule biosynthetic process", - "female reproductive organ", - "long bone", - "material entity", - "negative regulation of biosynthetic process", - "decreased size of the penis", - "Abnormality of the lower limb", - "endochondral element", - "abnormal neck", - "abnormal brain ventricle morphology", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal behavior process", - "abnormal ear morphology", - "cellular organisms", - "Decreased anatomical entity position", - "increased size of the anatomical entity", - "limb", - "main body axis", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "axial skeletal system", - "Growth abnormality", - "skeletal system", - "decreased size of the cerebellum", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "subdivision of vertebral column", - "absent manual digit", - "abnormal development of anatomical entity", - "Abnormal thumb morphology", - "subdivision of trunk", - "axon ensheathment in central nervous system", - "eye", - "compound organ", - "decreased qualitatively biological_process", - "anatomical entity", - "digit", - "Unilateral renal agenesis", - "Abnormal cerebellum morphology", - "upper limb segment", - "appendicular skeleton", - "Abnormal skeletal morphology", - "forelimb", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "abnormal primary metabolic process", - "body proper", - "abnormal opening of the anatomical entity", - "dorsal region element", - "chromatin organization", - "Reduced impulse control", - "abnormal location of external ear", - "abnormal nervous system", - "Attention deficit hyperactivity disorder", - "abnormal leg", - "craniocervical region", - "posterior region of body", - "Cleft palate", - "behavior", - "Abnormal appendicular skeleton morphology", - "Abnormal forearm morphology", - "vertebra", - "decreased length of anatomical entity in independent continuant", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal vertebral column", - "subdivision of head", - "appendage girdle complex", - "dermal skeletal element", - "subdivision of organism along main body axis", - "developmental process", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abdominal segment bone", - "abnormal facial skeleton morphology", - "material anatomical entity", - "trachea", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "abnormal skeletal system morphology", - "protein-containing material entity", - "segment of manus", - "Abnormality of the musculoskeletal system", - "organ system subdivision", - "Abnormality of the anus", - "shape anatomical entity", - "ventricular system of brain", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of digestive system physiology", - "absent anatomical entity", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal palate morphology", - "skeleton of pectoral complex", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "absent anatomical entity in the limb", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "dermal skeleton", - "aplasia or hypoplasia of manual digit 1", - "anatomical conduit", - "abnormal limb morphology", - "abdomen", - "manual digit 1 plus metapodial segment", - "trunk bone", - "bone of appendage girdle complex", - "anatomical wall", - "arm", - "mesoderm-derived structure", - "Abnormal facial skeleton morphology", - "autopodial skeleton", - "forelimb skeleton", - "delayed biological_process in independent continuant", - "digitopodium region", - "abnormal growth", - "pelvic complex", - "acropodium region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the manus", - "Finger aplasia", - "macromolecule metabolic process", - "pelvic region of trunk", - "palpebral fissure", - "fused sacrum hypoplasia", - "nucleobase-containing compound metabolic process", - "Short attention span", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal internal genitalia", - "aplasia or hypoplasia of vertebral column", - "abnormal fused sacrum morphology", - "skull", - "limb skeleton subdivision", - "Aplasia/Hypoplasia involving the vertebral column", - "abnormal craniocervical region", - "sacral region of vertebral column", - "Abnormal upper limb bone morphology", - "skin of body", - "reproductive system", - "sacral region", - "Aplasia/Hypoplasia of the sacrum", - "Global developmental delay", - "biological regulation", - "abdominal segment of trunk", - "bony pelvis", - "bone element hypoplasia in independent continuant", - "abnormal penis morphology", - "hindlimb", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", - "abnormal cellular metabolic process", - "Hypoplastic sacrum", - "aplasia or hypoplasia of fused sacrum", - "Delayed CNS myelination", - "fused sacrum", - "Neoplasm", - "Tracheoesophageal fistula", - "Abnormal jaw morphology", - "abnormal ear", - "Low-set ears", - "abnormal esophagus morphology", - "penis", - "digestive system element", - "kidney", - "abnormal biological_process", - "Growth delay", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", - "organ part", - "regulation of gene expression", - "pectoral appendage", - "respiratory system", - "obsolete cell", - "programmed DNA elimination", - "digestive system", - "subdivision of tube", - "abnormal alimentary part of gastrointestinal system", - "oral cavity", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal respiratory system physiology", - "abnormal female reproductive organ morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "tracheobronchial tree", - "trunk region element", - "Aplasia/Hypoplasia of the external ear", - "endoderm-derived structure", - "pelvic appendage", - "respiratory tube", - "abnormal nose tip morphology", - "alimentary part of gastrointestinal system atresia", - "respiratory tract", - "forelimb endochondral element", - "primary metabolic process", - "Abnormality of the skin", - "abnormal bone marrow morphology", - "flat anatomical entity", - "lower respiratory tract", - "Abnormal esophagus morphology", - "abnormal tracheobronchial tree morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormality of respiratory system physiology", - "thoracic segment organ", - "digestive tract", - "Abnormal tracheal morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Abnormality of the respiratory system", - "central nervous system development", - "hemolymphoid system", - "esophagus", - "Abnormal location of ears", - "subdivision of digestive tract", - "delayed biological_process", - "Abnormality of the cervical spine", - "abnormal digestive system", - "tube", - "respiratory airway", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "abnormal nervous system morphology", - "Hydrocephalus", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", - "cerebrospinal fluid", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "bone of craniocervical region", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Positional foot deformity", - "Abnormality of the urinary system", - "abnormal anus morphology", - "organ component layer", - "Morphological central nervous system abnormality", - "Abnormal cell morphology", - "lower limb segment", - "abnormal brain morphology", - "aplasia or hypoplasia of cerebellum", - "abnormally increased number of anatomical entity in the independent continuant", - "organism substance", - "abnormally increased number of anatomical entity", - "external ear hypoplasia", - "abnormal brain ventricle/choroid plexus morphology", - "flat anatomical entity in independent continuant", - "mouth", - "abnormal mandible morphology", - "anatomical point", - "ventricle of nervous system", - "Abnormality of limb bone", - "central nervous system", - "ventricular system of central nervous system", - "abnormal central nervous system morphology", - "transudate", - "Cafe-au-lait spot", - "increased length of the anatomical entity", - "myelination", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "abnormal location of ear", - "abnormal ocular adnexa", - "abnormal anatomical entity topology in independent continuant", - "Decreased external ear position", - "external nose", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal external ear", - "increased biological_process", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "integumental system", - "integument", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "abnormal hindlimb morphology", - "abnormal integument", - "brain ventricle", - "eyeball of camera-type eye", - "abnormal anus", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "Abnormal CNS myelination", - "immaterial anatomical entity", - "penis hypoplasia", - "limb endochondral element", - "Anal atresia", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "Abnormality of the face", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "roof of mouth", - "Abnormality of the orbital region", - "visual system", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormal ocular adnexa morphology", - "Abnormal eyelid morphology", - "absent uterus", - "ectoderm-derived structure", - "Slanting of the palpebral fissure", - "reproductive organ", - "abnormal skull morphology", - "anus atresia", - "abnormal palpebral fissure", - "abnormal face morphology", - "ocular adnexa", - "camera-type eye", - "delayed growth", - "abnormal eyeball of camera-type eye", - "increased anatomical entity length in independent continuant", - "abnormal location of eyeball of camera-type eye", - "anatomical line", - "Talipes equinovarus", - "absent kidney in the renal system", - "Hypermelanotic macule", - "Abnormal foot morphology", - "Aplasia/hypoplasia of the uterus", - "Hyperpigmentation of the skin", - "Bilateral talipes equinovarus", - "aplasia or hypoplasia of mandible", - "blood cell", - "Abnormality of the genitourinary system", - "head bone", - "Aplasia/Hypoplasia involving bones of the skull", - "cell", - "Abnormality of the mouth", - "anus", - "Abnormal skull morphology", - "pectoral complex", - "dermatocranium", - "abnormal jaw skeleton morphology", - "facial bone hypoplasia", - "segmental subdivision of hindbrain", - "digit 1 or 5", - "bone of jaw" - ], - "has_phenotype_count": 36, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0012187", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group J", - "full_name": null, - "deprecated": null, - "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.", - "xref": [ - "DOID:0111097", - "GARD:15449", - "MESH:C563801", - "NCIT:C129027", - "OMIM:609054", - "UMLS:C1836860" - ], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FANCJ", - "Fanconi Anemia, complementation group type J", - "Fanconi anaemia complementation group type J", - "Fanconi anemia complementation group J", - "Fanconi anemia complementation group type J", - "Fanconi anemia, complementation group J" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0009778", - "HP:0005528", - "HP:0001511", - "HP:0007565", - "HP:0008897", - "HP:0000568", - "HP:0001263", - "HP:0003221" - ], - "has_phenotype_label": [ - "Short thumb", - "Bone marrow hypocellularity", - "Intrauterine growth retardation", - "Multiple cafe-au-lait spots", - "Postnatal growth retardation", - "Microphthalmia", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents" - ], - "has_phenotype_closure": [ - "GO:0005623", - "UPHENO:0049990", - "GO:0010629", - "GO:0065007", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "GO:0010468", - "GO:0031327", - "UPHENO:0049748", - "GO:0031049", - "GO:0031326", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "GO:0008152", - "GO:0009987", - "GO:0006807", - "GO:0071704", - "GO:0071840", - "GO:0050794", - "GO:0019222", - "GO:0048519", - "GO:0006139", - "GO:0043170", - "GO:0006725", - "GO:0034641", - "UPHENO:0078606", - "UPHENO:0050113", - "HP:0003220", - "GO:0031052", - "GO:0009889", - "GO:0048523", - "HP:0001939", - "GO:0006996", - "GO:0043933", - "UPHENO:0050845", - "HP:0012758", - "UPHENO:0002332", - "UPHENO:0002433", - "UPHENO:0004523", - "HP:0012638", - "HP:0001263", - "UPHENO:0002764", - "UBERON:0001032", - "HP:0000568", - "UPHENO:0075219", - "UBERON:0004088", - "UBERON:0000033", - "UBERON:0004456", - "UPHENO:0021474", - "UBERON:0019221", - "UPHENO:0068971", - "UPHENO:0087006", - "UBERON:5001463", - "HP:0000478", - "GO:0046483", - "UPHENO:0084766", - "UBERON:0015212", - "UPHENO:0080126", - "UBERON:0004375", - "UBERON:0010912", - "UPHENO:0020584", - "UBERON:0002091", - "UPHENO:0046411", - "UPHENO:0084763", - "UPHENO:0001005", - "HP:0000924", - "UBERON:0002389", - "HP:0009381", - "UBERON:0000061", - "UPHENO:0076724", - "UBERON:5002389", - "GO:0010556", - "PR:000050567", - "BFO:0000003", - "UBERON:5006048", - "UBERON:0000479", - "UBERON:0002204", - "UPHENO:0085195", - "UBERON:0012475", - "UBERON:0010538", - "HP:0005922", - "UBERON:0011216", - "GO:0044237", - "UBERON:0010363", - "UPHENO:0080382", - "GO:0006259", - "UPHENO:0082875", - "UBERON:0001474", - "HP:0000315", - "UBERON:0002529", - "HP:0045060", - "UBERON:0010712", - "UPHENO:0002635", - "UPHENO:0076727", - "UPHENO:0074589", - "HP:0006265", - "UPHENO:0087123", - "HP:0007400", - "UBERON:0011249", - "PATO:0000001", - "UBERON:0000468", - "UBERON:0001463", - "UBERON:0002371", - "HP:0001155", - "UPHENO:0002910", - "HP:0040012", - "UBERON:0000467", - "UBERON:0004765", - "UBERON:0034923", - "UBERON:0002102", - "UPHENO:0002708", - "HP:0011017", - "UBERON:0012141", - "GO:0044238", - "UPHENO:0001001", - "UBERON:0005881", - "UBERON:0010314", - "UBERON:0001062", - "UBERON:0010707", - "HP:0001167", - "HP:0040064", - "UBERON:0004120", - "UPHENO:0080662", - "HP:0000118", - "HP:0001172", - "UPHENO:0079876", - "UPHENO:0069523", - "UBERON:5002544", - "GO:0006325", - "UPHENO:0052778", - "HP:0011927", - "UBERON:0034925", - "UPHENO:0050034", - "HP:0009601", - "HP:0001507", - "HP:0002817", - "UPHENO:0086700", - "UPHENO:0002896", - "HP:0000951", - "UPHENO:0086589", - "UPHENO:0084448", - "UBERON:0004710", - "UBERON:0012140", - "HP:0100887", - "UPHENO:0076703", - "UBERON:0000465", - "HP:0001574", - "BFO:0000004", - "UBERON:0004381", - "GO:0090304", - "UPHENO:0015280", - "UPHENO:0076740", - "UBERON:0011676", - "UPHENO:0086633", - "UBERON:0005451", - "UPHENO:0080099", - "UBERON:0002101", - "UPHENO:0002964", - "UPHENO:0003020", - "UBERON:0010758", - "UBERON:0002398", - "UPHENO:0046624", - "UPHENO:0002880", - "RO:0002577", - "BFO:0000002", - "UBERON:0006048", - "HP:0008056", - "UBERON:0007272", - "GO:0031323", - "UBERON:0002513", - "HP:0000001", - "UBERON:0001442", - "UBERON:0002416", - "UBERON:0010740", - "UBERON:0004121", - "UBERON:0002544", - "UPHENO:0002948", - "UPHENO:0012274", - "UPHENO:0075195", - "UBERON:0006717", - "UPHENO:0001003", - "UPHENO:0031839", - "UPHENO:0054957", - "UBERON:0002428", - "UPHENO:0004459", - "HP:0011297", - "UPHENO:0046707", - "UPHENO:0087472", - "UBERON:0006058", - "GO:1901360", - "UPHENO:0002830", - "UPHENO:0049700", - "HP:0005927", + "UPHENO:0081581", + "HP:0000001", + "UBERON:0011216", + "UBERON:0005178", + "HP:0004910", + "GO:0043227", + "UBERON:0004111", + "HP:0012599", + "HP:0011842", + "HP:0002150", + "UBERON:0001630", + "HP:0033127", + "UPHENO:0051763", + "GO:0008150", + "UPHENO:0051619", + "UPHENO:0051628", + "UPHENO:0002530", + "BFO:0000015", + "BFO:0000003", + "PR:000050567", + "UBERON:0011676", + "UPHENO:0003093", + "UPHENO:0002311", + "HP:0004348", + "UBERON:0003103", + "UPHENO:0068110", "UPHENO:0002536", "UPHENO:0076692", - "UPHENO:0084761", - "HP:0011121", - "UPHENO:0005433", - "UPHENO:0080114", - "HP:0000234", - "UBERON:0015061", - "GO:0016043", - "UPHENO:0074575", - "HP:0040068", - "UPHENO:0081436", - "UBERON:0000026", - "UBERON:0002405", - "BFO:0000001", - "UPHENO:0012541", - "UBERON:0012139", - "UPHENO:0076723", - "UPHENO:0002905", - "HP:0012733", - "UPHENO:0086635", - "HP:0033127", - "UBERON:0004708", - "UPHENO:0088186", - "HP:0009815", - "UBERON:0000075", - "UPHENO:0046505", - "HP:0011842", - "UBERON:0001444", - "UPHENO:0075696", - "UBERON:0002470", - "HP:0001871", - "BFO:0000040", - "UPHENO:0074584", - "HP:0009778", - "UBERON:0001434", - "HP:0006496", - "HP:0002813", - "UBERON:0013702", - "HP:0009115", - "GO:0010605", - "GO:0009892", - "UPHENO:0080079", - "HP:0011844", - "HP:0000707", - "UPHENO:0086172", - "UBERON:0000475", - "UBERON:0000062", - "GO:0010558", - "UBERON:0008785", - "UPHENO:0080393", - "HP:0012145", - "CL:0002092", - "UPHENO:0087355", - "UBERON:0015203", - "UPHENO:0084928", - "UBERON:0000047", - "HP:0025461", - "UPHENO:0087339", - "HP:0002715", - "CL:0001035", + "CHEBI:36963", + "GO:0001503", + "UPHENO:0050064", + "CHEBI:33273", + "UBERON:0000467", + "UBERON:0004765", + "BFO:0000004", + "UBERON:0000179", + "UPHENO:0051635", + "UBERON:0000383", + "HP:0011804", + "UPHENO:0082794", + "HP:0000083", + "GO:0032501", + "HP:0001995", + "UPHENO:0010850", + "UPHENO:0001002", + "UPHENO:0003430", + "UPHENO:0034276", + "UPHENO:0089737", + "UPHENO:0082875", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0002287", + "HP:0010935", + "UPHENO:0002783", + "UBERON:0004122", + "CHEBI:33839", + "CHEBI:26079", + "CHEBI:24833", + "UBERON:0001008", + "UPHENO:0004791", + "HP:0011849", + "UPHENO:0048707", + "HP:0002749", + "UPHENO:0082835", + "HP:0000124", + "CHEBI:16646", + "UBERON:0001088", + "CHEBI:26216", + "UPHENO:0002568", + "HP:0003126", + "HP:0002748", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0003086", + "UPHENO:0051736", + "HP:0000118", + "UPHENO:0050791", + "UPHENO:0003094", + "UPHENO:0002816", + "UBERON:0011143", + "HP:0001992", + "UPHENO:0066943", + "CHEBI:18282", + "UPHENO:0051709", "UBERON:0010000", "UBERON:0002390", - "CL:0000000", - "UPHENO:0054970", + "UBERON:0000916", + "UPHENO:0002386", + "HP:0040156", + "CHEBI:26020", + "UBERON:0000463", + "CHEBI:22984", + "UPHENO:0046284", + "UPHENO:0002426", + "HP:0004360", + "HP:0012337", + "HP:0001942", + "UPHENO:0076294", + "HP:0004918", "HP:0025354", - "HP:0005528", - "UPHENO:0005597", - "UPHENO:0002844", - "UBERON:0019231", + "UPHENO:0002679", + "HP:0002795", + "GO:0042592", + "UBERON:0034925", + "CHEBI:33595", + "UPHENO:0066781", "UPHENO:0049587", - "UBERON:0004288", - "UPHENO:0085144", - "UPHENO:0050108", - "UBERON:0001016", - "UPHENO:0080377", - "HP:0001510", - "UPHENO:0005642", - "GO:0032501", - "HP:0001511", + "UPHENO:0051712", + "UPHENO:0002949", + "CHEBI:51151", + "UBERON:0005181", + "CHEBI:22563", + "UBERON:0002075", + "GO:0065007", + "CHEBI:27226", + "UBERON:0004119", + "UBERON:0000170", + "UPHENO:0002411", + "UPHENO:0003084", + "PATO:0000001", + "HP:0002088", + "CHEBI:25696", + "UBERON:0001062", + "UPHENO:0002574", + "HP:0004323", + "UBERON:0000171", + "UPHENO:0002448", + "UPHENO:0076299", + "UBERON:0002048", + "UBERON:0001558", + "UPHENO:0066913", + "UPHENO:0066959", + "HP:0012598", + "UBERON:0000475", + "UPHENO:0087433", + "UPHENO:0066950", + "CHEBI:83821", + "HP:0002206", + "UBERON:0000064", + "UPHENO:0002346", + "UBERON:0001004", + "UPHENO:0002754", + "HP:0012252", "UPHENO:0000543", - "BFO:0000015", - "UPHENO:0049874", - "UBERON:0001460", - "GO:0040007", - "UBERON:0001440", - "GO:0032502", - "UPHENO:0076739", - "UPHENO:0075997", - "GO:0008150", - "UBERON:0011582", - "UPHENO:0052178", - "GO:0007275", - "HP:0001034", - "HP:0000957", - "HP:0007565", - "UPHENO:0080221", - "UBERON:0002193", - "UBERON:0002199", - "HP:0012759", - "UBERON:0002097", - "GO:0060255", - "UPHENO:0082682", - "GO:0048856", - "UPHENO:0003811", + "HP:0003076", + "UBERON:0013522", + "UPHENO:0076286", + "UPHENO:0004459", + "CHEBI:33285", + "UPHENO:0080555", + "HP:0011015", + "UPHENO:0081547", + "UBERON:0000065", + "HP:0032180", + "GO:0110165", + "CHEBI:35605", + "UPHENO:0051887", + "CHEBI:17544", + "GO:0048878", + "UBERON:0000465", + "CHEBI:33582", + "BFO:0000001", + "UPHENO:0002554", + "UPHENO:0051739", + "UPHENO:0051900", + "HP:0011014", + "BFO:0000002", + "UPHENO:0089764", + "HP:0004354", + "UBERON:0004120", + "UPHENO:0066946", + "CHEBI:17234", + "CHEBI:36587", + "UPHENO:0089294", + "HP:0001871", + "HP:0004912", + "HP:0001941", + "UPHENO:0051804", + "GO:0043229", + "GO:0033500", + "UPHENO:0050619", + "CHEBI:50860", + "UPHENO:0046281", + "GO:0042593", + "CHEBI:25806", + "CHEBI:36962", + "HP:0025745", + "CHEBI:18133", + "UPHENO:0081544", + "CHEBI:15693", + "UPHENO:0068134", + "HP:0000117", + "UBERON:0002113", + "CHEBI:33250", + "CHEBI:33559", + "CHEBI:16541", + "GO:0050878", + "UPHENO:0046344", + "HP:0011280", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0086172", + "GO:0065008", + "CHEBI:35281", "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0050121", - "GO:0009790", - "UPHENO:0074572", - "UPHENO:0050008", - "UPHENO:0060026", - "GO:0043473", - "HP:0000953", - "HP:0011355", - "UPHENO:0049873", - "UBERON:0000153", - "HP:0005561", - "HP:0008897", - "UBERON:0002104", - "UBERON:0007811", - "UBERON:0000020", - "UBERON:0010708", - "UBERON:0000019", - "UBERON:0010230", - "GO:0050789", - "UBERON:0013701", - "HP:0012372", - "HP:0000271", - "UBERON:0012354", - "HP:0001000", - "UPHENO:0080209", - "HP:0000152", - "UPHENO:0087907", - "UPHENO:0001002", - "UPHENO:0087924", - "UPHENO:0000541", - "UBERON:0001456", - "UBERON:0000970" + "HP:0011032", + "CHEBI:26708", + "UPHENO:0046356", + "UBERON:0001015", + "UPHENO:0003088", + "HP:0012606", + "CHEBI:24431", + "CHEBI:33318", + "HP:0003111" ], "has_phenotype_closure_label": [ - "programmed DNA elimination", - "obsolete cell", - "abnormal metabolic process", - "negative regulation of biosynthetic process", - "DNA metabolic process", - "protein-DNA complex organization", - "Abnormality of chromosome stability", - "regulation of macromolecule metabolic process", - "regulation of biosynthetic process", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal cellular metabolic process", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal cellular process", - "abnormal chromatin organization", - "Chromosome breakage", - "regulation of cellular process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "obsolete heterocycle metabolic process", - "cellular component organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "Chromosomal breakage induced by crosslinking agents", - "Global developmental delay", - "Neurodevelopmental abnormality", - "abnormality of anatomical entity physiology", - "nervous system", - "Abnormality of the nervous system", - "abnormal nervous system", - "Abnormal cellular physiology", - "organic substance metabolic process", - "abnormality of nervous system physiology", - "Abnormality of the head", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "cellular metabolic process", - "simple eye", - "digit 1 or 5", - "arm", - "abnormal pigmentation in independent continuant", - "abnormal head morphology", - "abnormal anatomical entity morphology in the independent continuant", - "manual digit 1 plus metapodial segment", - "manual digit 1 or 5", - "abnormal hematopoietic system", - "aplasia or hypoplasia of anatomical entity", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal limb morphology", - "macromolecule metabolic process", - "appendage girdle complex", - "abnormal cell", - "phenotype by ontology source", - "Abnormal thumb morphology", + "Growth delay", + "delayed growth", + "amino acid level phenotype", + "Elevated urinary carboxylic acid", + "Organic aciduria", + "Abnormal urine amino acid level", + "amino acid", + "urine amino acid level phenotype", + "urine glucose level phenotype", + "macromolecule", + "increased level of protein polypeptide chain in urine", + "peptide", + "Abnormal urine protein level", + "Low-molecular-weight proteinuria", + "organic amino compound", + "urine uric acid level phenotype", + "increased level of purines", + "Hyperuricosuria", + "urine hydrogencarbonate level phenotype", + "Abnormality of urine bicarbonate level", + "hydrogencarbonate level phenotype", + "increased level of hydrogencarbonate in urine", + "hydrogencarbonate", + "decreased functionality of the nephron epithelium", + "tissue physiology phenotype", + "increased level of uric acid in urine", + "nephron tubule phenotype", + "decreased functionality of the nephron tubule", + "decreased functionality of the epithelium", + "nephron", + "excretory tube", + "decreased functionality of the anatomical structure", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "decreased functionality of the tissue", + "decreased functionality of the renal tubule", + "Renal tubular acidosis", + "Renal tubular dysfunction", + "tube phenotype", + "decreased functionality of the tube", + "epithelium", + "decreased functionality of the material anatomical entity", + "renal tubule", + "decreased functionality of the multicellular anatomical structure", + "epithelial tube phenotype", + "uriniferous tubule", + "nephron epithelium", + "renal tubule phenotype", + "muscle structure phenotype", + "decreased anatomical entity strength", + "multicellular organism mass phenotype", + "multicellular anatomical structure mass phenotype", + "Weight loss", + "anatomical entity mass phenotype", + "Decreased body weight", + "decreased anatomical structure mass", + "multicellular organism phenotype", + "Abnormality of body weight", + "Decreased multicellular organism mass", + "tube physiology phenotype", + "Constitutional symptom", + "Pain", + "anatomical entity dysfunction in independent continuant", + "Abnormal musculoskeletal physiology", + "inorganic ion", + "decreased level of potassium atom in blood", + "Abnormal blood monovalent inorganic cation concentration", + "monovalent inorganic cation", + "Abnormal blood cation concentration", + "inorganic molecular entity", + "anatomical conduit phenotype", + "blood monovalent inorganic cation level phenotype", + "epithelial tube physiology phenotype", + "potassium atom", + "urine potassium atom level phenotype", + "s-block molecular entity", + "intracellular organelle", + "membrane-bounded organelle", + "cellular_component phenotype", + "Abnormality of the mitochondrion", + "musculoskeletal system phenotype", + "Abnormal circulating fatty-acid concentration", + "blood monocarboxylic acid level phenotype", + "nephron tubule", + "hydrogen molecular entity", + "hydroxides", + "oxide", + "intracellular membrane-bounded organelle", + "Abnormal circulating carnitine concentration", + "muscle organ", + "Increased urinary potassium", + "dipolar compound", + "oxoanion", + "muscle organ physiology phenotype", + "Abnormal cellular phenotype", + "amino acid derivative level phenotype", + "Abnormal circulating carboxylic acid concentration", + "increased level of organic acid in urine", + "amino-acid betaine", + "monocarboxylic acid", + "cell", + "Abnormal blood potassium concentration", + "carbon oxoacid", + "monocarboxylic acid anion", + "carbonyl compound", + "zwitterion", + "blood fatty acid anion level phenotype", + "Decreased circulating carnitine concentration", + "amino acid derivative", + "nephron epithelium phenotype", + "quaternary nitrogen compound", + "polyatomic anion", + "fatty acid anion", + "carboxylic acid", + "muscle structure physiology phenotype", + "lipid level phenotype", + "Abnormality of mitochondrial metabolism", + "molecule", + "cation", + "decreased level of purines", + "blood nitrogen molecular entity level phenotype", + "increased level of chemical entity in blood", + "blood nucleobase level phenotype", + "Azotemia", + "cyclic compound", + "organic molecule", + "polycyclic compound", + "nitrogen molecular entity", + "aromatic compound", + "Abnormal circulating nitrogen compound concentration", + "blood uric acid level phenotype", + "decreased level of uric acid in blood", + "imidazopyrimidine", "growth", - "bone of free limb or fin", - "abnormal autopod region morphology", - "skeleton", - "abnormal manual digit morphology in the independent continuant", - "decreased length of digit", - "changed biological_process rate in independent continuant", - "cellular process", - "Abnormal digit morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormal finger morphology", - "aplasia or hypoplasia of manual digit 1", - "appendicular skeletal system", - "endochondral element", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "forelimb skeleton", - "limb bone", - "Abnormality of multiple cell lineages in the bone marrow", - "bone of appendage girdle complex", - "Abnormality of the hand", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", + "heteropolycyclic compound", + "heterobicyclic compound", + "organic heterocyclic compound", + "increased level of nitrogen molecular entity in blood", + "decreased functionality of the excretory tube", + "organonitrogen heterocyclic compound", + "Hypouricemia", + "increased level of chemical entity in bodily fluid", + "monoatomic entity", + "monoatomic ion", + "decreased level of chemical entity in blood", + "blood cation level phenotype", + "blood monoatomic ion level phenotype", + "Hypophosphatemic rickets", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "ion", + "cavitated compound organ", + "skeletal element", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "organic heteropolycyclic compound", + "blood organic molecular entity level phenotype", + "trunk region element phenotype", + "mitochondrion phenotype", + "abdominal segment of trunk", + "trunk region element", + "amide", + "chemical entity level phenotype", + "decreased functionality of the anatomical conduit", + "Chronic kidney disease", + "muscle structure", + "lipid", + "material anatomical entity", + "Hypoglycemia", + "Abnormality of the kidney", + "cavitated compound organ physiology phenotype", + "organic molecular entity", + "abdomen element", + "abdominal segment element physiology phenotype", + "Abnormality of urinary uric acid level", + "abdominal segment element phenotype", + "biological_process phenotype", + "main body axis", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "intracellular anatomical structure", + "heteroatomic molecular entity", + "Aciduria", + "Abnormality of the urinary system", + "amino-acid betaine level phenotype", + "excretory system", + "abdomen element phenotype", + "p-block molecular entity", + "excretory tube physiology phenotype", + "homeostatic process", + "material anatomical entity mass phenotype", + "Abnormal respiratory system physiology", + "Abnormal muscle physiology", + "Increased susceptibility to fractures", + "Abnormal homeostasis", + "organochalcogen compound", + "renal system physiology phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "decreased level of amino-acid betaine", + "multicellular organism morphology phenotype", + "trunk", + "chemical entity", + "phosphorus molecular entity", + "organic oxo compound", + "excreta", + "carboxylic acid anion", + "multicellular anatomical structure physiology phenotype", + "genitourinary system", + "atom", + "regulation of body fluid levels", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "respiration organ phenotype", + "uric acid", + "metal atom", + "organism substance", + "trunk region element physiology phenotype", + "homeostatic process phenotype", + "viscus", + "main group molecular entity", + "urine phosphate level phenotype", + "material anatomical entity physiology phenotype", + "polyatomic entity", + "Abnormal blood ion concentration", + "taxon specific phenotype", + "aldohexose", + "tissue", + "anatomical system physiology phenotype", + "Bone pain", + "Abnormality of the upper urinary tract", + "phosphate level phenotype", + "Proteinuria", + "protein-containing material entity", + "thoracic segment organ phenotype", + "phosphate", + "Growth abnormality", + "anatomical entity morphology phenotype", + "musculoskeletal system physiology phenotype", "Abnormal skeletal morphology", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "mesoderm-derived structure", - "abnormal forelimb morphology", - "Irregular hyperpigmentation", - "limb endochondral element", - "phenotype", - "Abnormal cell morphology", - "Short digit", - "limb skeleton subdivision", - "delayed biological_process", - "autopod region", - "digit 1", - "aplasia or hypoplasia of manual digit", - "material anatomical entity", - "digit plus metapodial segment", - "multicellular anatomical structure", - "multi-limb segment region", - "anterior region of body", - "appendicular skeleton", - "upper limb segment", - "decreased length of manual digit", - "integumental system", - "pectoral complex", - "abnormal appendicular skeleton morphology", - "paired limb/fin skeleton", - "autopodial skeleton", - "Abnormality of the musculoskeletal system", - "appendage", - "subdivision of skeletal system", + "alkaline earth metal atom", + "skeletal system phenotype", + "protein polypeptide chain", + "Abnormal circulating nucleobase concentration", + "continuant", + "muscle organ phenotype", + "anatomical structure", + "decreased role blood level", + "musculature", + "polypeptide", + "organic ion", + "Abnormality of bone mineral density", + "anatomical conduit", + "musculature of body", + "organic cyclic compound", + "Hyperchloremic acidosis", + "Abnormal bone structure", "entity", - "abnormal limb bone morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "tissue", - "abnormal embryo development", - "abnormal craniocervical region morphology", - "Short finger", - "skeleton of manus", - "abnormal development of anatomical entity", - "abnormal digit", - "abnormal head", - "eye", - "paired limb/fin segment", - "digit", - "Hyperpigmentation of the skin", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "integument", - "abnormal manus", - "subdivision of organism along appendicular axis", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "skeletal system", - "skin of body", - "abnormal developmental process", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "disconnected anatomical group", - "hematopoietic system", - "multicellular organism", - "Abnormality of the orbital region", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "manual digit", - "Abnormal eye morphology", - "decreased length of manual digit 1", - "Neurodevelopmental delay", - "pectoral appendage", - "body proper", - "head", - "Abnormality of limb bone", - "organ system subdivision", - "digit 1 plus metapodial segment", - "abnormal arm", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "organism subdivision", - "anatomical system", - "occurrent", - "organ", - "abnormal digit morphology", + "Decreased anatomical entity mass density", + "main group element atom", + "Abnormality of the musculoskeletal system", + "renal/urinary system phenotype", + "anatomical entity", + "Hypokalemia", + "mitochondrion", + "anatomical structure phenotype", + "urine organic anion level phenotype", + "Abnormality of the genitourinary system", + "phosphoric acid derivative", "quality", - "abnormal manus morphology", - "pectoral appendage skeleton", - "manual digit plus metapodial segment", - "negative regulation of gene expression", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abnormal anatomical entity", - "endochondral bone", - "subdivision of skeleton", - "abnormal anatomical entity length", + "Reduced bone mineral density", + "Renal insufficiency", + "anatomical entity fibrosis", + "Abnormality of metabolism/homeostasis", + "polyatomic ion", + "Dehydration", + "heteroarene", + "anatomical system phenotype", + "kidney epithelium", + "obsolete cell", + "Abnormal blood phosphate concentration", + "compound organ", + "phosphorus oxoacids and derivatives", + "anion", + "organ physiology phenotype", + "phenotypic effect", + "Aminoaciduria", + "organ system subdivision", + "lateral structure", + "purines", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", "bone element", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "anatomical structure", - "protein-containing material entity", - "abnormal skeletal system morphology", - "segment of manus", - "obsolete cellular aromatic compound metabolic process", + "abdomen element physiology phenotype", + "anatomical structure physiology phenotype", + "organonitrogen compound", + "anatomical entity phenotype", + "mesoderm-derived structure phenotype", + "increased level of calcium atom in urine", + "chemical homeostasis", + "organic anion", + "anatomical entity physiology phenotype", + "increased level of carboxylic acid in urine", + "nucleobase", + "Abnormal urine phosphate concentration", + "Generalized aminoaciduria", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "heterocyclic compound", + "skeletal system", + "lateral structure physiology phenotype", + "cavitated compound organ phenotype", + "cellular anatomical entity", + "blood carboxylic acid level phenotype", + "Renal phosphate wasting", + "Glycosuria", + "abdominal segment element", + "Abnormal bone ossification", + "increased level of potassium atom in urine", + "blood", + "kidney physiology phenotype", "multicellular organismal process", - "bone marrow", - "acropodium region", - "abnormal limb", - "manus", - "subdivision of organism along main body axis", - "abnormal phenotype by ontology source", - "abnormal size of anatomical entity", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Abnormal appendicular skeleton morphology", + "Muscle weakness", + "organ part", + "multicellular anatomical structure", + "lung morphology phenotype", + "specifically dependent continuant", + "organ", + "occurrent", + "Decreased bone element mass density", + "decreased functionality of the epithelial tube", + "Abnormal urine pH", + "bone element phenotype", + "acid bodily fluid level phenotype", + "carbohydrate", + "biological_process", "material entity", - "Macule", - "abnormal immune system", - "system", - "bone marrow cell", - "Abnormal cellular phenotype", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", + "oxopurine", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", + "increased level of amino acid in urine", + "compound organ phenotype", + "independent continuant", + "Proximal renal tubular acidosis", + "abdomen", + "skeletal element phenotype", + "organ phenotype", + "lung fibrosis", + "material anatomical entity phenotype", + "calcium atom level phenotype", + "Bicarbonate-wasting renal tubular acidosis", + "cell phenotype", + "skeletal system morphology phenotype", + "decreased material anatomical entity mass", + "subdivision of organism along main body axis", + "ammonium betaine", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "musculature phenotype", + "regulation of body fluid levels phenotype", + "oxoacid derivative", + "compound organ physiology phenotype", + "subdivision of trunk", + "growth phenotype", + "blood lipid level phenotype", + "Abnormal respiratory system morphology", + "organism subdivision", + "epithelium phenotype", + "organ system subdivision phenotype", + "respiratory tract", + "organelle", + "upper urinary tract phenotype", + "Acidosis", + "excretory tube phenotype", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "urine sodium atom level phenotype", + "Abnormal circulating carbohydrate concentration", + "aldose", + "glucose", + "bodily fluid", + "thoracic cavity element phenotype", + "Abnormal glucose homeostasis", + "onium betaine", + "Hyperchloremic metabolic acidosis", + "Metabolic acidosis", + "organic aromatic compound", + "Abnormality of acid-base homeostasis", + "fatty acid level phenotype", + "tube", + "process", + "urine calcium atom level phenotype", + "multicellular organism", + "hematopoietic system", + "thoracic cavity element", + "blood carnitine level phenotype", + "carnitine", + "cytoplasm", + "musculoskeletal system", + "respiratory system morphology phenotype", + "decreased multicellular anatomical structure mass", + "fatty acid", + "All", + "anatomical collection", + "thoracic segment organ", + "lower respiratory tract", + "lung phenotype", + "endoderm-derived structure", + "regulation of biological quality", + "pair of lungs", + "Bicarbonaturia", + "respiration organ", + "Abnormality of the musculature", + "thoracic segment of trunk", + "carbohydrates and carbohydrate derivatives", + "metabolic process", + "endoderm-derived structure phenotype", + "decreased muscle organ strength", + "cellular_component", + "bicyclic compound", + "biological regulation phenotype", + "respiratory system phenotype", + "Pulmonary fibrosis", + "carbon group molecular entity", + "anatomical entity morphology in the respiratory system phenotype", + "tissue phenotype", + "Abnormal circulating organic compound concentration", + "epithelial tube", + "respiratory system", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "Abnormal pulmonary interstitial morphology", + "respiratory airway", + "subdivision of tube", + "monosaccharide", + "glucose homeostasis", + "carbon oxoanion", + "renal system phenotype", + "respiratory system physiology phenotype", + "potassium atom level phenotype", + "viscus phenotype", + "Rickets", "hemolymphoid system", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "abnormal immune system morphology", + "chemical homeostasis phenotype", + "carbohydrate homeostasis", + "blood carbohydrate level phenotype", + "blood chemical entity level phenotype", + "blood potassium atom level phenotype", + "Abnormal circulating fatty-acid anion concentration", + "hematopoietic system phenotype", + "kidney phenotype", + "blood oxygen molecular entity level phenotype", + "decreased functionality of the anatomical entity", + "lateral structure phenotype", + "role blood level phenotype", + "sodium atom", + "heteroorganic entity", + "organooxygen compound", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "organic heterobicyclic compound", + "glucose homeostasis phenotype", + "urine chemical entity level phenotype", + "oxygen molecular entity", + "Abnormality of the skeletal system", + "lung", + "Abnormality of fluid regulation", + "Abnormal renal physiology", + "chalcogen molecular entity", + "role bodily fluid level phenotype", + "hexose", + "epithelium physiology phenotype", + "blood glucose level phenotype", + "molecular entity", "Abnormality of blood and blood-forming tissues", - "non-connected functional system", - "abnormal cell morphology", - "immune system", - "Abnormality of the immune system", - "limb", - "Abnormality of the upper limb", - "cell", - "skeletal element", - "Bone marrow hypocellularity", - "Abnormality of the face", - "anatomical structure development", - "independent continuant", - "abnormal growth", - "decreased developmental process", - "biological_process", - "embryo development", - "decreased qualitatively developmental process", - "abnormal bone marrow cell", - "camera-type eye", - "process", - "lateral structure", - "changed developmental process rate", - "abnormal biological_process", - "eyeball of camera-type eye", - "abnormal integument", - "developmental process", - "Growth delay", - "delayed growth", - "organic cyclic compound metabolic process", - "segment of autopod", - "multicellular organism development", - "abnormal manual digit 1 morphology", - "Short thumb", - "Intrauterine growth retardation", - "changed embryo development rate", - "decreased embryo development", - "increased biological_process", - "abnormal face morphology", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "Abnormal hand morphology", - "Localized skin lesion", - "increased pigmentation in independent continuant", - "increased pigmentation", - "regulation of cellular biosynthetic process", + "Abnormal blood glucose concentration", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "role urine level phenotype", + "Decreased anatomical entity mass", + "s-block element atom", + "Hypercalciuria", + "inorganic cation", + "Abnormal cellular physiology", + "increased level of chemical entity", + "increased urine role level", + "decreased functionality of the kidney epithelium", + "calcium atom", + "Abnormality of urine calcium concentration", + "anatomical structure mass phenotype", + "increased level of chemical entity in urine", + "proximo-distal subdivision of respiratory tract", "biological regulation", - "Abnormality of globe size", - "abnormal pigmentation", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "Cafe-au-lait spot", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "abnormal skin of body morphology", - "skeleton of limb", - "Abnormality of skin pigmentation", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "increased pigmentation in skin of body", - "Abnormality of the skin", - "Postnatal growth retardation", - "abnormal limb bone", - "sense organ", - "abnormal skeletal system", - "Multiple cafe-au-lait spots", - "Microphthalmia", - "Abnormal nervous system physiology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "subdivision of head", - "craniocervical region", - "main body axis", - "visual system", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", - "abnormal eyeball of camera-type eye", - "continuant", - "entire sense organ system", - "orbital region", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", - "Growth abnormality", - "face", - "Abnormality of head or neck", - "autopodial extension", - "abnormal face", - "musculoskeletal system", - "Abnormality of the eye" + "Abnormal urinary organic compound level", + "blood fatty acid level phenotype", + "regulation of biological quality phenotype", + "multicellular anatomical structure phenotype", + "Abnormal urine sodium concentration", + "sodium atom level phenotype", + "Abnormal urine potassium concentration", + "bone element mass density phenotype", + "carbohydrate homeostasis phenotype", + "alkali metal atom", + "increased level of glucose in urine", + "nitrogen molecular entity level phenotype", + "body proper", + "blood phosphate level phenotype", + "primary amide", + "elemental molecular entity" ], - "has_phenotype_count": 8, + "has_phenotype_count": 29, + "highlight": null, + "score": null + }, + { + "id": "MONDO:1011503", + "category": "biolink:Disease", + "name": "Fanconi syndrome, dog", + "full_name": null, + "deprecated": null, + "description": "Fanconi syndrome that occurs in dog.", + "xref": ["OMIA:000366-9615"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": null, + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, + "has_phenotype_count": 0, "highlight": null, "score": null }, { - "id": "MONDO:0012565", + "id": "MONDO:0030056", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group N", + "name": "Fanconi renotubular syndrome 5", "full_name": null, "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.", + "description": null, "xref": [ - "DOID:0111094", - "GARD:15500", - "MESH:C563657", - "OMIM:610832", - "UMLS:C1835817" + "DOID:0080761", + "GARD:16392", + "MEDGEN:1711127", + "OMIM:618913", + "UMLS:C5394473" ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCN", - "Fanconi Anemia, complementation group type N", - "Fanconi anaemia caused by mutation in PALB2", - "Fanconi anaemia complementation group type N", - "Fanconi anemia caused by mutation in PALB2", - "Fanconi anemia complementation group N", - "Fanconi anemia complementation group type N", - "Fanconi anemia, complementation group N", - "PALB2 Fanconi anaemia", - "PALB2 Fanconi anemia" + "FANCONI RENOTUBULAR SYNDROME 5", + "FRTS5", + "Fanconi Renotubular Syndrome, Acadian Variant", + "Fanconi renotubular syndrome 5" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0000470", - "HP:0002984", - "HP:0009777", - "HP:0002667", - "HP:0000252", - "HP:0004808", - "HP:0002885", - "HP:0001631", - "HP:0009778", - "HP:0000125", - "HP:0000568", - "HP:0001518", - "HP:0001915", - "HP:0003221", - "HP:0003006", - "HP:0000086", - "HP:0000957", - "HP:0002023", - "HP:0000316", - "HP:0008897", - "HP:0000953", - "HP:0001629", - "HP:0000085", - "HP:0000122", - "HP:0000286" + "HP:0003774", + "HP:0004918", + "HP:0002148", + "HP:0002206", + "HP:0004912", + "HP:0002857", + "HP:0045051", + "HP:0000093", + "HP:0003076", + "HP:0002097", + "HP:0030078", + "HP:0003355", + "HP:0005576", + "HP:0000822" ], "has_phenotype_label": [ - "Short neck", - "Hypoplasia of the radius", - "Absent thumb", - "Nephroblastoma", - "Microcephaly", - "Acute myeloid leukemia", - "Medulloblastoma", - "Atrial septal defect", - "Short thumb", - "Pelvic kidney", - "Microphthalmia", - "Small for gestational age", - "Aplastic anemia", - "Chromosomal breakage induced by crosslinking agents", - "Neuroblastoma", - "Ectopic kidney", - "Cafe-au-lait spot", - "Anal atresia", - "Hypertelorism", - "Postnatal growth retardation", - "Hyperpigmentation of the skin", - "Ventricular septal defect", - "Horseshoe kidney", - "Unilateral renal agenesis", - "Epicanthus" - ], - "has_phenotype_closure": [ - "UPHENO:0076761", - "UBERON:0001457", - "UPHENO:0021791", - "UPHENO:0087058", - "UPHENO:0087307", - "UBERON:0013766", - "UBERON:0000014", - "UPHENO:0075878", - "UPHENO:0087928", - "UBERON:0001711", - "HP:0032039", - "UBERON:0034921", - "HP:0000286", - "HP:0030669", - "HP:0000492", - "UPHENO:0025100", - "UPHENO:0026980", - "UPHENO:0008593", - "HP:0000122", - "UPHENO:0041075", - "HP:0000085", - "UPHENO:0041821", - "UPHENO:0041465", - "UPHENO:0082444", - "UPHENO:0041226", - "UPHENO:0082129", - "UPHENO:0041629", - "UPHENO:0033604", - "HP:0010438", - "UPHENO:0015282", - "HP:0008897", - "HP:0001510", - "UPHENO:0018424", - "UBERON:0006800", - "UPHENO:0072195", - "UBERON:0000015", - "UPHENO:0072194", - "UPHENO:0055730", - "HP:0100886", - "UBERON:0000466", - "UBERON:0000161", - "HP:0004378", - "UBERON:0001555", - "UBERON:0010222", - "UPHENO:0063599", - "UPHENO:0076803", - "HP:0025031", - "HP:0011121", - "HP:0000104", - "HP:0011355", - "GO:0043473", - "UPHENO:0060026", - "UPHENO:0074589", - "HP:0001000", - "UPHENO:0080662", - "UPHENO:0059829", - "UPHENO:0082682", - "UBERON:0002097", - "UBERON:0002416", - "HP:0001574", - "UPHENO:0054957", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0054970", - "HP:0001034", - "HP:0030061", - "HP:0030063", - "BFO:0000141", - "HP:0003006", - "HP:0030067", - "HP:0004376", - "HP:0030060", - "UPHENO:0000543", - "HP:0030065", - "GO:0005623", - "UBERON:8450002", - "HP:0025033", - "HP:0010786", - "UBERON:0008785", - "GO:0010558", - "UBERON:0011138", - "UBERON:0002513", - "GO:0031323", - "HP:0010935", - "UBERON:0004122", - "HP:0002898", + "Stage 5 chronic kidney disease", + "Hyperchloremic metabolic acidosis", + "Hypophosphatemia", + "Pulmonary fibrosis", + "Hypophosphatemic rickets", + "Genu valgum", + "Decreased DLCO", + "Proteinuria", + "Glycosuria", + "Emphysema", + "Lung adenocarcinoma", + "Aminoaciduria", + "Tubulointerstitial fibrosis", + "Hypertension" + ], + "has_phenotype_closure": [ + "HP:0002597", + "UBERON:0000055", + "UPHENO:0002678", + "HP:0030972", + "UPHENO:0002576", + "UBERON:0000477", + "HP:0000822", + "HP:0001626", + "UBERON:0002049", + "UBERON:0004535", + "UBERON:0001981", + "UBERON:0034923", + "UBERON:0000479", + "UPHENO:0087427", + "UBERON:0001231", + "UBERON:0004819", + "HP:0030760", + "UPHENO:0076779", + "HP:0000091", + "UPHENO:0076714", + "HP:0012210", + "UBERON:0009773", + "UBERON:0007684", + "UBERON:0004211", + "UPHENO:0051739", + "HP:0003355", + "CHEBI:33674", + "UBERON:0004537", + "UPHENO:0046286", + "UPHENO:0068169", + "HP:0031980", + "CHEBI:33709", + "CHEBI:24651", + "CHEBI:72695", + "CHEBI:36586", + "HP:0032943", + "HP:0030358", + "HP:0100526", + "HP:0012072", + "HP:0030078", "HP:0011793", - "UBERON:0001008", - "UBERON:0005173", - "UPHENO:0086857", - "UBERON:0005177", - "UBERON:0002199", - "HP:0000077", - "UPHENO:0002905", - "UBERON:0002113", - "UPHENO:0012274", - "UPHENO:0085118", - "UBERON:0011143", - "UPHENO:0053580", - "UPHENO:0074228", - "HP:0009380", - "HP:0011792", - "UPHENO:0015327", - "UBERON:0019221", - "NCBITaxon:2759", + "CHEBI:33575", + "MPATH:596", + "MPATH:14", + "HP:0002097", + "MPATH:25", + "HP:0025745", + "CHEBI:18133", + "CHEBI:17234", + "UPHENO:0068054", + "CHEBI:35381", + "MPATH:31", + "CHEBI:16646", + "HP:0000093", + "CHEBI:15693", + "UPHENO:0081544", + "UPHENO:0051686", + "HP:0032581", + "CHEBI:36962", + "MPATH:0", + "CHEBI:25806", + "CHEBI:50860", + "CHEBI:51143", + "CHEBI:16541", + "UPHENO:0048707", + "UPHENO:0046383", + "HP:0033354", + "CHEBI:37622", + "CHEBI:50047", + "CHEBI:16670", + "CHEBI:15841", + "CHEBI:36963", + "CHEBI:33285", + "CHEBI:35352", + 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"CHEBI:26079", + "CHEBI:24833", + "UBERON:0001008", + "HP:0002148", + "UBERON:0007798", + "CHEBI:33304", + "HP:0002813", + "UBERON:0013702", + "UBERON:0002417", + "UBERON:0000468", + "HP:0001939", + "UPHENO:0087993", + "GO:0008152", + "UPHENO:0049587", + "UPHENO:0002385", + "HP:0004360", + "HP:0004918", + "HP:0001871", + "BFO:0000003", + "PR:000050567", + "BFO:0000015", + "HP:0011025", + "HP:0001969", + "UBERON:0005055", + "HP:0012337", "UPHENO:0001003", - "NCBITaxon:131567", - "UPHENO:0054261", - "HP:0001881", - "UPHENO:0076718", - "UPHENO:0069294", - "UPHENO:0080126", - "UPHENO:0081204", - "UPHENO:0086866", - "UPHENO:0003811", - "UBERON:0002102", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0076727", - "UBERON:1000021", - "UPHENO:0033559", - "UPHENO:0084763", - "HP:0001167", - "HP:0040064", - "UBERON:0006048", - "UBERON:0001245", - "UPHENO:0084448", - "UBERON:0004710", - "HP:0009824", - "UBERON:0010538", - "UPHENO:0072402", - "UPHENO:0019886", - "UPHENO:0084766", - "GO:0046483", - "UBERON:0015212", - "UPHENO:0086956", - "UPHENO:0076810", - "HP:0005773", - "CL:0000738", - "UPHENO:0082761", - "UPHENO:0010795", - "HP:0012733", - "UBERON:0003460", - "UPHENO:0087924", - "UBERON:0003607", - "UBERON:0001423", - "UBERON:0004456", - "HP:0045060", - "UPHENO:0086633", - "UBERON:0001460", - "GO:0040007", - "UPHENO:0087563", - "UBERON:0012140", - "HP:0100887", - "HP:0000152", - "UPHENO:0076799", - "HP:0000119", + "UBERON:0010740", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0002267", + "HP:0012622", + "UPHENO:0031276", + "UPHENO:0034351", + "UPHENO:0084654", + "UBERON:0006058", + "UPHENO:0002731", + "UPHENO:0002442", + "UBERON:0000915", + "UBERON:0011249", + "UPHENO:0002386", + "CHEBI:33917", + "UBERON:0004375", + "UPHENO:0068491", + "CHEBI:36360", + "BFO:0000020", + "UBERON:0000916", + "MPATH:1000", + "CHEBI:33302", + "UPHENO:0002269", + "UBERON:8450002", + "UBERON:0006314", + "UPHENO:0002406", "BFO:0000040", - "UBERON:0002090", - "UPHENO:0065599", - "GO:0031326", - "GO:0006259", - "UPHENO:0087510", - "UBERON:5002544", - "HP:0009726", - "UBERON:0001130", - "UBERON:0000465", + "UPHENO:0082834", + "UBERON:0015212", + "HP:0012211", + "UBERON:0004770", + "UBERON:0001015", + "UPHENO:0003088", + "UPHENO:0002530", + "UPHENO:0001002", + "UBERON:0000978", + "HP:0100529", + "UPHENO:0002963", + "UPHENO:0075902", + "UPHENO:0066739", + "HP:0100491", + "UPHENO:0002642", + "UPHENO:0001001", + "UPHENO:3000004", + "UPHENO:0002427", + "HP:0003111", + "CHEBI:24431", + "UPHENO:0002246", + "UPHENO:0002526", + "UPHENO:0004536", + "HP:0006487", + "HP:0012575", + "UPHENO:0002360", + "UBERON:0000026", + "UBERON:0000179", "BFO:0000004", - "UBERON:0008001", - "UBERON:0002204", - "UPHENO:0074584", - "UBERON:0001442", - "HP:0000001", - "UBERON:0006072", - "UPHENO:0087123", - "UBERON:0002085", - "HP:0001909", - "UBERON:0011249", - "UBERON:0006077", - "GO:0031052", - "UPHENO:0074572", - "UBERON:0002417", - "UPHENO:0002536", - "UPHENO:0076692", - "HP:0011017", - "NCBITaxon:33208", - "UPHENO:0050008", - "HP:0006496", - "UBERON:0001434", - "HP:0009778", - "UPHENO:0080187", - "UBERON:0013702", - "GO:0071840", - "HP:0002818", - "HP:0002813", - "HP:0011844", - "GO:0009892", - "GO:0010605", - "UBERON:0000974", + "UBERON:0001285", + "UBERON:0013701", + "UPHENO:0002909", + "UPHENO:0002976", + "CHEBI:37577", + "UBERON:0000062", + "UBERON:0000489", + "CHEBI:33582", + "UBERON:0000465", + "HP:0000119", + "UBERON:0002101", + "UPHENO:0002964", + "HP:0020129", + "UPHENO:0046348", + "HP:0006530", + "HP:0034669", + "UPHENO:0051763", + "UPHENO:0003049", + "GO:0008150", + "GO:0032501", + "HP:0000083", + "UBERON:0005172", + "HP:0011277", + "UPHENO:3000003", "BFO:0000002", - "HP:0012639", - "HP:0001876", - "HP:0000118", - "UBERON:0001007", - "UPHENO:0079876", - "HP:0000951", - "RO:0002577", - "UBERON:0000073", - "UBERON:0012139", - "HP:0005120", - "UPHENO:0012541", - "UPHENO:0088186", - "UBERON:0000075", - "UBERON:0010363", - "HP:0002977", - "HP:0001713", - "UBERON:0010913", - "UBERON:0005881", - "UBERON:0001062", - "UPHENO:0076941", - "UPHENO:0002764", - "UPHENO:0081451", - "UPHENO:0076724", - "UBERON:0034944", - "HP:0009121", - "HP:0005922", + "UPHENO:0002643", + "HP:0001942", + "UPHENO:0076740", + "UPHENO:0076294", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0000072", + "UBERON:0000061", + "UBERON:0005177", + "UBERON:0005173", + "UPHENO:0031302", + "CHEBI:23367", + "UBERON:0003657", + "UPHENO:0002308", + "HP:0005576", + "UBERON:0001005", + "UBERON:0009569", + "UPHENO:0002525", + "UPHENO:0002870", + "UBERON:0001009", + "UPHENO:0003094", + "HP:0003774", + "UPHENO:0031271", + "HP:0001992", + "UBERON:0002390", + "UPHENO:0051709", + "UBERON:0010000", + "HP:0010935", + "UPHENO:0002783", + "UBERON:0004122", + "UPHENO:0082875", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0003086", + "UPHENO:0049904", + "UPHENO:0002559", + "HP:0000001", "UBERON:0011216", "UBERON:0005178", - "UPHENO:0087006", - "UPHENO:0085144", - "UBERON:0005174", - "UPHENO:0068971", - "UPHENO:0008668", - "UBERON:0002193", - "UBERON:0002412", - "HP:0007400", - "HP:0033127", - "HP:0000240", - "UPHENO:0086635", - "UBERON:0000948", - "UPHENO:0015324", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0018390", - "UBERON:0001444", - "UBERON:0002389", - "UPHENO:0087349", - "UBERON:0000468", - "UPHENO:0046538", - "UPHENO:0002635", - "BFO:0000001", - "HP:0040012", - "UPHENO:0022529", - "UBERON:0010707", - "HP:0100836", - "UBERON:0004120", - "UBERON:0015001", - "HP:0001155", + "CHEBI:32988", + "UPHENO:0081581", "UBERON:0004111", - "UPHENO:0080377", - "UBERON:0011137", - "UPHENO:0003074", - "UBERON:0015021", - "UBERON:0002386", - "UPHENO:0080209", - "UBERON:0000020", + "HP:0032263", + "UPHENO:0046284", + "UPHENO:0002426", + "UPHENO:0002377", + "UBERON:0004120", + "HP:0004349", + "UPHENO:0002861", + "UPHENO:0002554", + "BFO:0000001", + "CHEBI:78616", + "HP:0000077", + "UPHENO:0068565", + "UPHENO:0002750", + "UPHENO:0068110", + "UBERON:0003103", + "CHEBI:36357", + "CHEBI:33259", + "UPHENO:0002600", + "CHEBI:24870", + "UBERON:0000064", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", + "UBERON:0004769", + "CHEBI:26082", + "UPHENO:0031122", + "UPHENO:0002679", + "UBERON:0005913", + "HP:0002795", + "GO:0042592", + "UBERON:0034925", + "UBERON:0005181", + "UBERON:0002075", + "HP:0002086", + "GO:0001503", + "HP:0032180", + "UBERON:0000065", + "UBERON:0004119", + "UBERON:0000170", + "UBERON:0008784", + "UPHENO:0031142", + "HP:0002981", + "UPHENO:0002411", + "UPHENO:0003084", + "UBERON:0004905", + "PATO:0000001", + "HP:0002088", + "UBERON:0001062", + "UPHENO:0002574", + "UBERON:0010363", + "UPHENO:0002885", + "UPHENO:0002536", + "UPHENO:0076692", + "UBERON:0000171", + "UPHENO:0002448", + "UPHENO:0076299", + "UPHENO:0034253", + "UBERON:0010712", + "UBERON:0002048", + "UBERON:0001558", + "UBERON:0000475", + "UPHENO:0087433", + "HP:0002206", + "UBERON:0001004", + "UPHENO:0086908", + "UBERON:0002204", + "UPHENO:0002754", + "HP:0012252", + "HP:0003076", + "UBERON:0013522", + "UBERON:0010538", + "UBERON:0000174", + "HP:0000924", + "HP:0003330", + "UPHENO:0041610", + "HP:0004348", "UPHENO:0076703", + "UBERON:0011143", + "UPHENO:0002816", + "UBERON:0000467", + "UBERON:0004765", + "UBERON:0001434", + "HP:0001941", + "UPHENO:0051804", + "HP:0004912", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "UBERON:0004708", + "HP:0011849", + "UBERON:0034921", + "HP:0011842", + "UPHENO:0084653", + "UPHENO:0051635", + "UPHENO:0003095", + "UBERON:0000383", + "UPHENO:0082835", + "HP:0001367", + "UPHENO:0003015", + "UPHENO:0004507", + "UBERON:0002113", + "UPHENO:0002585", + "UPHENO:0076727", + "UPHENO:0002632", + "UBERON:0002103", + "UPHENO:0080658", + "UBERON:0002495", + "UPHENO:0002785", + "HP:0000079", + "UBERON:0002513", + "UPHENO:0002634", + "UBERON:0002529", + "UPHENO:0041536", + "UPHENO:0041098", + "HP:0033127", + "UPHENO:0086635", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UBERON:0006555", + "UPHENO:0086780", + "UPHENO:0086956", + "UBERON:0010709", + "UBERON:0000483", + "UPHENO:0002944", + "HP:0002979", + "UBERON:0002471", + "HP:0030878", + "UPHENO:0041573", + "HP:0040068", + "UPHENO:0075952", + "UPHENO:0002945", + "UPHENO:0031318", + "UBERON:0011582", + "UPHENO:0002568", + "UBERON:0015061", + "UPHENO:0041258", + "UBERON:0001465", + "HP:0001995", + "UBERON:0003823", + "HP:6000531", + "UPHENO:0003066", + "UPHENO:0088582", + "UBERON:0000982", + "HP:0011314", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "HP:0002857" + ], + "has_phenotype_closure_label": [ + "Abnormality of the vasculature", + "Abnormal systemic blood pressure", + "anatomical cluster phenotype", + "anatomical cluster", + "Hypertension", + "disconnected anatomical group", + "cardiovascular system", + "cardiovascular system physiology phenotype", + "kidney morphology phenotype", + "excretory tube", + "Renal fibrosis", + "Abnormal renal insterstitial morphology", + "kidney epithelium morphology phenotype", + "Abnormal renal morphology", + "Abnormal nephron morphology", + "nephron morphology phenotype", + "Increased blood pressure", + "Tubulointerstitial fibrosis", + "renal tubule", + "uriniferous tubule", + "nephron epithelium", + "s-block molecular entity", + "molecule", + "amino acid level phenotype", + "Abnormal urine amino acid level", + "hydroxides", + "organic molecule", + "oxoacid", + "increased level of organic acid in urine", + "renal system morphology phenotype", + "amino acid", + "increased level of carboxylic acid in urine", + "carbon oxoacid", + "carbonyl compound", + "carboxylic acid", + "urine amino acid level phenotype", + "Neoplasm", + "Neoplasm of the respiratory system", + "neoplasm phenotype", + "pathological process", + "Emphysema", + "tissue specific degenerative process", + "blood vasculature", + "pathological phenotype observation", + "Lung adenocarcinoma", + "increased level of monosaccharide in urine", + "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", + "monosaccharide", + "urine glucose level phenotype", + "carbohydrates and carbohydrate derivatives", + "macromolecule", + "vascular system", + "increased level of chemical entity in urine", + "carbon group molecular entity", + "organic molecular entity", + "nitrogen molecular entity", + "peptide", + "organic oxo compound", + "excreta", + "organooxygen compound", + "heteroorganic entity", + "Abnormal urine protein level", + "increased urine role level", + "increased level of chemical entity", + "urine", + "organic amino compound", + "role urine level phenotype", + "oxygen molecular entity", + "urine chemical entity level phenotype", + "organism subdivision, curved phenotype", + "long bone phenotype", + "limb morphology phenotype", + "nephron tubule", + "Abnormal renal tubule morphology", + "hydrogen molecular entity", + "endochondral bone phenotype", + "bone of appendage girdle complex phenotype", + "hindlimb morphology phenotype", + "Abnormality of the calf", + "aldohexose", + "zone of organ", + "subdivision of organism along appendicular axis, curved phenotype", + "Abnormality of limbs", + "organism subdivision phenotype", + "appendicular skeleton", + "limb skeleton subdivision", + "appendicular skeletal system", + "endochondral element", + "epithelium", + "system", + "limb endochondral element phenotype", + "appendage girdle complex", + "lower limb segment, curved phenotype", + "pelvic complex", + "multi-limb segment region phenotype", + "endochondral element phenotype", + "blood vessel", + "multi-limb segment region", + "skeletal joint phenotype", + "Bowing of the long bones", + "shape hindlimb zeugopod", + "decreased level of chemical entity in blood", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "blood monoatomic ion level phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "trunk", + "hindlimb joint", + "amide", + "Abnormality of limb bone", + "chemical entity level phenotype", + "trunk region element", + "phosphorus molecular entity", + "primary amide", + "limb bone morphology phenotype", + "elemental molecular entity", + "main group molecular entity", + "haemolymphatic fluid", + "organochalcogen compound", + "Abnormal homeostasis", + "homeostatic process", + "Abnormal respiratory system physiology", + "cardiovascular system phenotype", + "Abnormality of acid-base homeostasis", + "tube", + "Metabolic acidosis", + "ion", + "chemical entity", + "Hyperchloremic metabolic acidosis", + "zone of long bone", + "mesoderm-derived structure phenotype", + "organonitrogen compound", + "appendage", + "anatomical entity phenotype", + "bone element", + "Acidosis", + "upper urinary tract phenotype", + "organism substance", + "process", + "homeostatic process phenotype", + "Abnormal knee morphology", + "trunk region element physiology phenotype", + "viscus", + "articulation", + "skeletal joint morphology phenotype", + "kidney", + "subdivision of skeleton", + "endochondral bone", + "Abnormal tubulointerstitial morphology", + "Abnormality of urine homeostasis", + "upper urinary tract", + "Genu valgum", + "process of degenerative change", + "lower limb segment phenotype", + "organ phenotype", + "lung fibrosis", + "hematopoietic system phenotype", + "Abnormal limb bone morphology", + "blood chemical entity level phenotype", + "mesoderm-derived structure", + "Stage 5 chronic kidney disease", + "Aciduria", + "Abnormality of the urinary system", + "anatomical entity morphology in the pelvic complex phenotype", + "abdomen element phenotype", + "circulatory system", + "long bone morphology phenotype", + "excretory system", + "main body axis", + "organism subdivision", + "limb segment phenotype", + "bone of appendage girdle complex", + "multicellular anatomical structure phenotype", + "skeletal system", + "subdivision of trunk", + "monoatomic entity", + "Abnormality of the lower limb", + "paired limb/fin segment, curved phenotype", + "blood", + "subdivision of organism along main body axis", + "Bowing of the legs", + "Abnormality of the skeletal system", + "lung", + "skeletal system morphology phenotype", + "carbohydrate", + "biological_process", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "limb bone phenotype", + "Hypophosphatemia", + "articular system", + "material entity", + "increased level of glucose in urine", + "nitrogen molecular entity level phenotype", + "Decreased DLCO", + "blood phosphate level phenotype", + "body proper", + "biological_process phenotype", + "abdominal segment element phenotype", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", + "Phenotypic abnormality", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "Renal insufficiency", + "hindlimb zeugopod phenotype", + "respiration organ phenotype", + "anatomical structure", + "hindlimb zeugopod morphology phenotype", + "anatomical conduit", + "musculature", + "polypeptide", + "Abnormality of bone mineral density", + "phosphate level phenotype", + "Proteinuria", + "material anatomical entity, curved phenotype", + "protein-containing material entity", + "hindlimb", + "Abnormality of the upper urinary tract", + "phosphate", + "thoracic segment organ phenotype", + "subdivision of skeletal system", + "entity", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "emphysema", + "lateral structure phenotype", + "polyatomic entity", + "Chronic kidney disease", + "material anatomical entity", + "posterior region of body", + "multicellular anatomical structure", + "lung morphology phenotype", + "kidney physiology phenotype", + "respiratory tract", + "organ system subdivision phenotype", + "chalcogen molecular entity", + "Abnormal renal physiology", + "Abnormality of the kidney", + "limb segment, curved phenotype", + "trunk region element phenotype", + "lateral structure", + "abdomen element", + "protein polypeptide chain", + "continuant", + "Abnormality of metabolism/homeostasis", + "anatomical entity fibrosis", + "specifically dependent continuant", + "abdominal segment element physiology phenotype", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "zeugopod", + "skeletal element", + "organ physiology phenotype", + "phenotypic effect", + "zeugopod, curved phenotype", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "oxoacid derivative", + "compound organ physiology phenotype", + "paired limb/fin segment phenotype", + "tissue", + "anatomical system physiology phenotype", + "bodily fluid", + "thoracic cavity element phenotype", + "material anatomical entity phenotype", + "renal/urinary system phenotype", + "anatomical entity", + "independent continuant", + "increased level of amino acid in urine", + "compound organ phenotype", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "Abnormal cardiovascular system physiology", + "taxon specific phenotype", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "anatomical entity physiology phenotype", + "zone of bone organ", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", + "renal system", + "phenotype", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "bone of free limb or fin phenotype", + "anatomical structure phenotype", + "appendicular skeleton morphology phenotype", + "occurrent", + "organ", + "nephron", + "curved long bone", + "renal system physiology phenotype", + "kidney epithelium", + "Abnormal blood phosphate concentration", + "compound organ", + "phosphorus oxoacids and derivatives", + "shape long bone", + "anatomical system phenotype", + "musculature phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "abdominal segment of trunk", + "abdomen", + "Aminoaciduria", + "organ system subdivision", + "material anatomical entity physiology phenotype", + "Neoplasm of the lung", + "phosphoric acid derivative", + "quality", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "Neoplasm by anatomical site", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "cell and tissue damage process", + "skeleton", + "Abnormality on pulmonary function testing", + "leg phenotype", + "proximo-distal subdivision of respiratory tract", + "hematopoietic system", + "multicellular organism", + "thoracic cavity element", + "All", + "anatomical collection", + "thoracic segment organ", + "vessel", + "diaphysis", + "lower respiratory tract", + "lung phenotype", + "articulation phenotype", + "pelvic appendage", + "endoderm-derived structure", + "pair of lungs", + "respiration organ", + "shape of continuant phenotype", + "Abnormal DLCO", + "anatomical entity morphology phenotype", + "subdivision of organism along appendicular axis", + "thoracic segment of trunk", + "metabolic process", + "endoderm-derived structure phenotype", + "respiratory system phenotype", + "Pulmonary fibrosis", + "anatomical entity morphology in the respiratory system phenotype", + "organ part", + "multicellular organismal process", + "epithelial tube", + "respiratory system", + "Abnormal pulmonary interstitial morphology", + "skeleton of limb", + "knee morphology phenotype", + "respiratory airway", + "subdivision of tube", + "renal system phenotype", + "respiratory system physiology phenotype", + "viscus phenotype", + "anatomical entity mass density phenotype", + "Abnormality of the musculoskeletal system", + "Abnormal skeletal morphology", + "Decreased bone element mass density", + "Abnormal urine pH", + "bone element phenotype", + "musculature of body", + "skeletal element phenotype", + "curved anatomical entity", + "skeletal system phenotype", + "lower limb segment", + "Reduced bone mineral density", + "bone element mass density phenotype", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "Abnormal respiratory system morphology", + "shape anatomical entity", + "paired limb/fin phenotype", + "curved hindlimb zeugopod", + "Abnormal appendicular skeleton morphology", + "appendage phenotype", + "knee phenotype", + "limb endochondral element", + "lateral structure physiology phenotype", + "multicellular anatomical structure, curved phenotype", + "paired limb/fin", + "multi organ part structure phenotype", + "paired limb/fin segment", + "Abnormality of the knee", + "monoatomic ion", + "leg", + "nephron tubule morphology phenotype", + "long bone", + "increased level of protein polypeptide chain in urine", + "Abnormal joint morphology", + "limb segment", + "cavitated compound organ phenotype", + "bone of free limb or fin", + "hindlimb joint phenotype", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb phenotype", + "Organic aciduria", + "Abnormal diaphysis morphology", + "anatomical structure, curved phenotype", + "hemolymphoid system", + "Rickets", + "multi organ part structure", + "vasculature phenotype", + "Non-small cell lung carcinoma", + "skeletal joint", + "organ, curved phenotype", + "skeletal element, curved phenotype", + "respiratory system morphology phenotype", + "musculoskeletal system", + "curvature anatomical entity", + "limb joint", + "limb bone", + "Hypophosphatemic rickets", + "knee", + "vasculature", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "Abnormal lung morphology", + "anatomical system", + "Abnormality of lower limb joint", + "zeugopod phenotype", + "bone element, curved phenotype", + "limb" + ], + "has_phenotype_count": 14, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0014275", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 3", + "full_name": null, + "deprecated": null, + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", + "xref": [ + "DOID:0080759", + "GARD:15991", + "MEDGEN:816430", + "OMIM:615605", + "UMLS:C3810100" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "EHHADH Fanconi syndrome", + "FRTS3", + "Fanconi renotubular syndrome 3", + "Fanconi renotubular syndrome type 3", + "Fanconi syndrome caused by mutation in EHHADH" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001942", + "HP:0003259", + "HP:0001510", + "HP:0003109", + "HP:0002748", + "HP:0002979", + "HP:0003076", + "HP:0000083", + "HP:0004322", + "HP:0003355", + "HP:0003126" + ], + "has_phenotype_label": [ + "Metabolic acidosis", + "Elevated circulating creatinine concentration", + "Growth delay", + "Hyperphosphaturia", + "Rickets", + 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- "UPHENO:0053588", - "UPHENO:0063722", - "HP:0004808", - "UPHENO:0049367", - "UPHENO:0075997", - "UBERON:0002371", - "UBERON:0002471", - "UPHENO:0081755", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "HP:0000086", - "HP:0006503", - "UBERON:0002104", - "HP:0008056", - "UBERON:0010230", - "HP:0002060", - "HP:0012372", - "HP:0000315", - "UPHENO:0085189", - "UPHENO:0020041", - "HP:0000271", - "UBERON:0001474", - "CL:0000329", - "HP:0000125", - "UPHENO:0002910", - "HP:0000478", - "UBERON:0001456", - "UPHENO:0069523", - "UBERON:5001463", - "UPHENO:0021474", - "UBERON:0000025", - "UBERON:0004088", - "UPHENO:0075219", - "UPHENO:0077426", - "HP:0000568", - "CL:0000458", - "UPHENO:0054299", - "HP:0100547", - "HP:0001518", - "BFO:0000003", - "HP:0001507", - "UPHENO:0049587", - "BFO:0000015", - "UPHENO:0031839", - "HP:0004325", - "HP:0004323", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "HP:0012145", - "UPHENO:0081466", - "CL:0002092", - "HP:0020047", - "UPHENO:0087355", - "CL:0000457", + "UPHENO:0002785", + "HP:0000079", + "UBERON:0002513", + "UBERON:0002529", + "UPHENO:0041536", + "GO:0042592", + "UBERON:0034925", "UBERON:0000064", - "CL:0000081", - "CL:0000763", - "CL:0000232", + "UPHENO:0031123", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0000026", + "UPHENO:0068565", + "UPHENO:0002750", + "UBERON:0010363", + "UBERON:0010538", + "UPHENO:0051630", + "UBERON:0010712", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UPHENO:0086780", + "UBERON:0010709", + "UBERON:0008784", + "UPHENO:0002983", + "UPHENO:0002944", + "HP:0002979", + "UBERON:0002471", + "HP:0040068", + "UPHENO:0075952", + "CHEBI:24995", + "UPHENO:0002945", + "UPHENO:0031318", + "UPHENO:0002600", + "UBERON:0011582", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0015061", + "CHEBI:33917", "UBERON:0004375", - "HP:0011873", - "CL:0000233", - "UPHENO:0086854", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0085984", - "HP:0034915", - "UPHENO:0087339", - "UPHENO:0087089", - "CL:0000764", - "UBERON:0015410", - "UPHENO:0086173", - "UPHENO:0063565", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0084761", - "HP:0001872", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "HP:0000929", - "GO:0034641", - "UPHENO:0085070", - "GO:0065007", - "UBERON:0000479", + "UPHENO:0051635", + "UBERON:0001977", + "UBERON:0000383", + "UPHENO:0003095", + "UPHENO:0076285", + "UBERON:0015212", + "UPHENO:0041258", + "UBERON:0005913", + "UPHENO:0004459", + "UBERON:0002428", + "HP:0011314", + "UBERON:0034944", + "UPHENO:0080300", "UPHENO:0002896", - "GO:0043933", - "HP:0008678", - "GO:0006996", - "UPHENO:0050845", - "HP:0001939", - "HP:0000079", - "GO:0048523", - "GO:0060255", - "HP:0003220", - "GO:0043170", - "GO:0006139", - "UBERON:0002094", - "GO:0019222", - "GO:0050794", - "GO:0008152", - "GO:0071824", - "GO:0031324", - "GO:0009890", - "UBERON:0002075", - "GO:0031049", - "HP:0000707", - "UPHENO:0049748", - "UPHENO:0000541", - "GO:0010468", - "UBERON:0012180", - "HP:0003221", - "UPHENO:0050116", - "UPHENO:0050021", - "UPHENO:0050121", - "UPHENO:0049990" - ], - "has_phenotype_closure_label": [ - "skin of head", - "eyelid", - "increased length of the epicanthal fold", - "ocular adnexa", - "abnormal zone of skin morphology", - "abnormal skin of face morphology", - "Abnormal eyelid morphology", - "abnormal skin of head morphology", - "upper eyelid", - "Abnormal ocular adnexa morphology", - "epicanthal fold", - "abnormal ocular adnexa", - "Abnormality of the ocular adnexa", - "absent anatomical entity in the renal system", - "Renal agenesis", - "absent kidney", - "Horseshoe kidney", - "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "U-shaped anatomical entity", - "Abnormal ventricular septum morphology", - "interventricular septum", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal interventricular septum morphology", - "delayed biological_process", - "Postnatal growth retardation", - "anatomical line", - "immaterial anatomical entity", - "abnormal location of eyeball of camera-type eye", - "multi organ part structure", - "increased length of the anatomical line between pupils", - "Hypertelorism", - "increased anatomical entity length in independent continuant", - "Abnormality of globe location", - "tube", - "abnormal closing of the anatomical entity", - "Abnormality of the anus", - "digestive tract", - "anatomical entity atresia", - "abnormal integument", - "abnormal pigmentation in independent continuant", - "changed biological_process rate in independent continuant", - "absent kidney in the renal system", - "Hypermelanotic macule", - "Abnormality of skin morphology", - "abnormal skin of body", - "pigmentation", - "Macule", - "Abnormality of skin pigmentation", - "increased qualitatively biological_process", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "increased pigmentation in independent continuant", - "Localized skin lesion", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "integument", - "integumental system", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased biological_process in skin of body", - "increased biological_process", - "changed biological_process rate", - "limb long bone", - "zeugopodial skeleton", - "regional part of nervous system", - "abnormal genitourinary system", - "Neoplasm", - "excretory system", - "abnormal kidney", - "abnormal central nervous system morphology", - "immaterial entity", - "Abnormality of chromosome stability", - "Embryonal renal neoplasm", - "Abnormality of the upper urinary tract", - "Abnormality of the eye", + "UPHENO:0031323", + "UPHENO:0031276", + "CHEBI:33608", + "HP:0000940", + "HP:0003259", + "UBERON:0010758", + "UPHENO:0076740", + "UPHENO:0086628", + "UBERON:0004381", + "HP:0002814", + "UPHENO:0002411", + "HP:0002981", + "UPHENO:0031142", + "UPHENO:0002731", + "UBERON:0006058" + ], + "has_phenotype_closure_label": [ + "macromolecule", + "peptide", + "Abnormal urine protein level", + "Low-molecular-weight proteinuria", + "amino acid level phenotype", + "Abnormal urine carboxylic acid level", + "Abnormal urine amino acid level", + "hydroxides", + "increased level of organic acid in urine", + "amino acid", + "carbon oxoacid", + "carbonyl compound", + "organic amino compound", + "carboxylic acid", + "urine amino acid level phenotype", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", + "Short stature", + "decreased height of the anatomical entity", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "kidney", + "upper urinary tract phenotype", + "abdomen element phenotype", + "subdivision of trunk", + "main body axis", + "subdivision of organism along main body axis", + "Abnormality of the kidney", + "Renal insufficiency", + "increased level of amino acid in urine", + "compound organ phenotype", + "abdomen", "trunk region element", - "pectoral complex", - "acropodium region", - "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal immune system morphology", - "compound organ", - "eye", - "autopodial skeleton", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 1 morphology", - "Short thumb", - "absent anatomical entity", - "absent anatomical entity in the independent continuant", - "regulation of biosynthetic process", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", - "cellular process", - "Hematological neoplasm", - "Medulloblastoma", - "agenesis of anatomical entity", - "digit", - "abnormal digit morphology", - "skeleton of manus", - "abnormal digit", - "cellular organisms", - "thoracic segment of trunk", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "Absent thumb", - "abnormal autopod region morphology", - "aplastic anatomical entity", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "interatrial septum", - "abnormal manus", - "Nephroblastoma", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal appendicular skeleton morphology", - "manual digit", - "Abnormal eye morphology", - "Abnormal morphology of the radius", - "zone of skin", - "forelimb skeleton", - "genitourinary system", - "forelimb zeugopod", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal digestive system", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "paired limb/fin skeleton", - "arm", - "bone of appendage girdle complex", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "manual digit plus metapodial segment", - "macromolecule metabolic process", - "appendicular skeleton", - "Unilateral renal agenesis", - "upper limb segment", - "head or neck skin", - "abnormal forelimb zeugopod bone", - "lateral structure", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "aplasia or hypoplasia of skeleton", - "cardiac ventricle", - "abnormal craniocervical region", - "increased size of the anatomical entity", - "limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "cell", - "mesoderm-derived structure", - "Anal atresia", - "limb endochondral element", - "Short forearm", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "bone element hypoplasia in independent continuant", - "leukocyte", - "appendicular skeletal system", - "multi-limb segment region", - "Abnormality of head or neck", - "organism", - "irregular bone", - "postcranial axial skeleton", - "digit plus metapodial segment", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "anatomical collection", - "All", - "decreased size of the anatomical entity in the independent continuant", + "multicellular anatomical structure physiology phenotype", + "cavitated compound organ physiology phenotype", + "Abnormality of the upper urinary tract", + "abdomen element", + "abdominal segment element physiology phenotype", + "kidney physiology phenotype", + "trunk region element physiology phenotype", + "increased level of monosaccharide in urine", + "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", + "monosaccharide", + "increased urine role level", + "urine glucose level phenotype", + "carbohydrates and carbohydrate derivatives", + "role urine level phenotype", + "organism subdivision, curved phenotype", + "hindlimb zeugopod phenotype", + "shape hindlimb zeugopod", + "long bone phenotype", + "limb morphology phenotype", + "hydrogen molecular entity", + "endochondral bone phenotype", + "bone of appendage girdle complex phenotype", + "hindlimb morphology phenotype", + "Abnormality of the calf", + "aldohexose", + "zone of organ", + "organism subdivision", + "renal system phenotype", + "organic molecule", + "anatomical system physiology phenotype", + "growth", + "delayed growth", + "molecule", + "mesoderm-derived structure phenotype", "bone element", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal anatomical entity", - "cervical vertebra endochondral element", - "decreased length of neck", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "aplastic manual digit 1", - "abnormal cervical vertebra", - "segment of autopod", - "organic cyclic compound metabolic process", - "anatomical line between pupils", + "decreased size of the material anatomical entity", + "abdominal segment element phenotype", + "biological_process phenotype", + "material anatomical entity phenotype", + "Abnormal renal physiology", + "chalcogen molecular entity", + "homeostatic process phenotype", + "kidney phenotype", + "blood oxygen molecular entity level phenotype", + "hematopoietic system phenotype", + "Abnormal limb bone morphology", + "blood chemical entity level phenotype", + "increased level of chemical entity in blood", + "taxon specific phenotype", + "phosphate level phenotype", + "hindlimb", + "increased level of chemical entity in blood serum", + "urine", + "increased level of creatinine in blood serum", + "Azotemia", + "imidazolidinone", "independent continuant", - "abnormal leukocyte morphology", - "abnormal growth", - "Neoplasm by histology", - "endochondral element", - "abnormal neck", - "Abnormality of the neck", - "orifice", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "musculoskeletal system", - "abnormal cellular metabolic process", + "appendage girdle complex", + "lower limb segment, curved phenotype", + "urine chemical entity level phenotype", + "oxygen molecular entity", + "organic molecular entity", + "monocyclic compound", + "size of anatomical entity phenotype", + "organ physiology phenotype", + "phenotypic effect", + "long bone", + "blood creatinine level phenotype", + "phenotype", + "bone of appendage girdle complex", + "increased blood role level", + "leg", + "body proper", + "increased level of glucose in urine", + "nitrogen molecular entity level phenotype", + "organooxygen compound", + "heteroorganic entity", + "genitourinary system", + "blood organic molecular entity level phenotype", + "Phenotypic abnormality", + "Hyperphosphaturia", + "upper urinary tract", + "Abnormality of urine homeostasis", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "growth phenotype", + "shape anatomical entity", + "nitrogen molecular entity", + "Abnormal circulating organic compound concentration", + "Metabolic acidosis", + "oxoacid", + "delayed biological_process", "limb skeleton subdivision", - "skull", - "organ", - "abnormal cardiac septum morphology", - "occurrent", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", + "organic heteromonocyclic compound", + "metabolic process", + "Abnormality of the urinary system physiology", + "zeugopod, curved phenotype", + "lactam", + "material anatomical entity", + "bone of free limb or fin phenotype", + "anatomical structure phenotype", + "cavitated compound organ phenotype", + "bone of free limb or fin", + "blood serum chemical entity level phenotype", "anatomical system", - "abnormal neck morphology", - "skeleton of limb", - "Abnormal forearm bone morphology", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "arm bone", - "increased pigmentation", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "entity", - "absent kidney in the independent continuant", + "organic cyclic compound", + "Abnormal bone structure", + "trunk", + "role blood serum level phenotype", + "limb", + "chemical entity", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "Acidosis", + "material entity", + "shape long bone", + "anatomical system phenotype", + "musculature phenotype", + "abdomen element physiology phenotype", + "anatomical structure physiology phenotype", + "imidazolidines", + "paired limb/fin segment phenotype", + "process", + "role bodily fluid level phenotype", + "blood plasma chemical entity level phenotype", + "curved hindlimb zeugopod", + "blood serum", + "posterior region of body", + "multicellular anatomical structure", + "lateral structure phenotype", + "role blood level phenotype", + "multicellular organism chemical entity level phenotype", + "carboxamide", + "endochondral element", + "organism subdivision phenotype", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "anatomical structure", + "musculature", + "polypeptide", + "Abnormality of bone mineral density", + "Bowing of the long bones", + "limb endochondral element phenotype", "subdivision of skeletal system", - "decreased length of anatomical entity", - "bone of pectoral complex", - "abnormal limb bone morphology", - "abnormal anatomical entity topology in independent continuant", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "thoracic segment organ", - "Abnormal cellular immune system morphology", - "skeletal element", - "zeugopod", - "U-shaped kidney", - "digit 1 or 5", - "dorsal part of neck", - "abnormal interatrial septum morphology", - "primary circulatory organ", - "Abnormal myeloid cell morphology", - "dorsum", - "cervical region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormal eyelid morphology", - "manus", - "subdivision of organism along main body axis", - "Neoplasm of the genitourinary tract", - "abnormal vertebral column", - "Abnormality of the vertebral column", - "bone of dorsum", - "bone marrow", - "Abnormal cardiac atrium morphology", - "abnormally decreased number of myeloid cell", - "absent anatomical entity in the multicellular organism", + "entity", + "s-block molecular entity", + "increased level of chemical entity in blood plasma", + "Elevated circulating creatinine concentration", + "bone element mass density phenotype", + "renal/urinary system phenotype", + "anatomical entity", + "specifically dependent continuant", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "anatomical entity physiology phenotype", + "zone of bone organ", + "limb bone phenotype", + "multicellular organism phenotype", + "heteromonocyclic compound", + "haemolymphatic fluid", + "Abnormal circulating creatinine concentration", + "increased level of chemical entity", + "Abnormal urinary electrolyte concentration", + "mesoderm-derived structure", + "Abnormality of acid-base homeostasis", + "anatomical entity phenotype", + "organonitrogen compound", + "appendage", + "homeostatic process", + "Abnormal homeostasis", + "organochalcogen compound", + "Abnormality of metabolism/homeostasis", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in urine", + "phosphate", + "organonitrogen heterocyclic compound", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "skeleton", + "multicellular organism", "hematopoietic system", - "thoracic cavity element", - "vertebral column", - "telencephalon", - "abnormal opening of the anatomical entity", - "dorsal region element", - "Abnormality of skull size", - "body proper", - "organ system subdivision", - "erythrocyte", - "abnormal blood cell", - "absent digit", - "nucleobase-containing compound metabolic process", - "phenotype", - "Abnormal cell morphology", - "main body axis", - "abnormal kidney morphology", + "Bowing of the legs", + "Abnormality of the skeletal system", + "appendicular skeleton", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "cavitated compound organ", + "subdivision of organism along appendicular axis phenotype", + "cyclic amide", + "shape of continuant phenotype", + "paired limb/fin segment", + "bodily fluid", + "polyatomic entity", + "main group molecular entity", + "increased level of nitrogen molecular entity in blood", + "blood plasma", + "increased level of creatinine in blood", + "creatinine", + "Abnormal circulating nitrogen compound concentration", + "carbon group molecular entity", + "increased blood serum role level", + "protein polypeptide chain", + "continuant", + "organic heterocyclic compound", + "limb segment phenotype", + "compound organ", + "phosphorus oxoacids and derivatives", "quality", - "abnormal forelimb zeugopod morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "appendage", - "root", - "Malignant neoplasm of the central nervous system", - "abnormally decreased number of hematopoietic cell", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Microphthalmia", - "material anatomical entity", + "phosphoric acid derivative", + "organic oxo compound", + "excreta", + "Abnormality of limbs", + "phosphorus molecular entity", + "paired limb/fin phenotype", + "compound organ physiology phenotype", + "increased level of phosphate in urine", + "oxoacid derivative", + "renal system physiology phenotype", + "urine phosphate level phenotype", + "material anatomical entity physiology phenotype", + "Abnormality of the genitourinary system", + "leg phenotype", "renal system", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", - "abnormal renal system", - "Peripheral primitive neuroectodermal neoplasm", - "abnormal anus", - "Neuroectodermal neoplasm", + "Aciduria", + "Abnormality of the urinary system", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", + "Decreased anatomical entity mass density", + "endochondral element phenotype", + "anatomical entity mass density phenotype", + "Aminoaciduria", + "organ system subdivision", + "heterocyclic compound", "skeletal system", - "abnormal cardiac ventricle morphology", - "motile cell", - "manual digit 1 plus metapodial segment", - "abdomen", - "aplasia or hypoplasia of manual digit 1", - "system", - "circulatory system", - "bone marrow cell", - "continuant", - "neck bone", - "entire sense organ system", - "abnormal craniocervical region morphology", - "cervical vertebra", - "abnormal telencephalon morphology", - "Embryonal neoplasm", - "skeleton", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "craniocervical region", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "Abnormal thumb morphology", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "subdivision of vertebral column", - "absent manual digit", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "Abnormal finger morphology", - "abnormal digestive system morphology", - "abnormal forelimb morphology", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "Abnormal hand morphology", - "Metazoa", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "zone of organ", - "tissue", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "endochondral bone", - "Aplasia/Hypoplasia of the radius", - "neck", - "abnormal size of anatomical entity", - "Upper limb undergrowth", - "Abnormality of thrombocytes", - "Abnormal axial skeleton morphology", - "non-material anatomical boundary", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormality of the hand", - "radius bone", - "abnormal DNA metabolic process", - "forelimb zeugopod bone hypoplasia", - "skin of eyelid", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", + "Abnormality of the musculoskeletal system", + "organ system subdivision phenotype", + "Abnormal skeletal morphology", + "Growth abnormality", + "anatomical entity morphology phenotype", "subdivision of organism along appendicular axis", - "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Abnormal neck morphology", - "negative regulation of gene expression", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "appendage girdle complex", - "subdivision of head", - "abnormal face", - "forelimb bone", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the pectoral complex", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "head", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "obsolete cellular aromatic compound metabolic process", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal limb bone", - "Abnormal nervous system morphology", - "sense organ", - "limb bone", - "Neuroblastoma", - "abnormal anatomical entity morphology in the independent continuant", - "brain", + "appendicular skeleton morphology phenotype", + "occurrent", + "organ", + "curved long bone", + "anatomical structure, curved phenotype", + "hemolymphoid system", + "Rickets", + "multicellular organismal process", + "organ part", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "Abnormal urine pH", + "bone element phenotype", + "multicellular anatomical structure phenotype", + "skeletal element", + "zeugopod", + "musculature of body", + "skeletal element phenotype", + "lower limb segment", + "trunk region element phenotype", + "limb segment, curved phenotype", + "diazolidine", + "Reduced bone mineral density", + "skeletal system morphology phenotype", + "abdominal segment of trunk", + "anatomical entity morphology in the appendage girdle complex phenotype", + "blood nitrogen molecular entity level phenotype", + "Abnormal appendicular skeleton morphology", + "anatomical entity morphology in the pelvic complex phenotype", + "limb endochondral element", + "lateral structure physiology phenotype", + "multicellular anatomical structure, curved phenotype", + "paired limb/fin", + "skeletal system phenotype", + "curved anatomical entity", + "lateral structure", + "subdivision of skeleton", + "endochondral bone", + "increased level of protein polypeptide chain in urine", "limb segment", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Nervous tissue neoplasm", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "Abnormality of limb bone morphology", - "manual digit 1", - "Decreased body weight", - "autopodial extension", - "regulation of metabolic process", - "regulation of cellular metabolic process", - "Abnormality of limbs", - "Abnormality of the kidney", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "blood cell", - "Abnormality of the genitourinary system", - "forebrain", - "Abnormality of the cardiovascular system", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "Renal neoplasm", - "Urinary tract neoplasm", - "abnormal anatomical entity morphology in the heart", - "Abnormal renal morphology", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "abnormal nervous system", - "abnormal forebrain morphology", - "Neuroblastic tumor", - "multi-tissue structure", - "Aplastic anemia", - "abnormal nervous system morphology", - "Leukemia", - "abnormal cell morphology", - "abnormal anus morphology", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "anus", - "Abnormal skull morphology", - "abnormal anatomical entity morphology in the brain", - "Primitive neuroectodermal tumor", - "visual system", - "Decreased head circumference", - "cranial skeletal system", - "abnormal head morphology", - "Pancytopenia", - "abnormal head", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", + "zone of long bone", + "pelvic appendage", + "Abnormality of the lower limb", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb phenotype", + "Organic aciduria", + "Abnormal diaphysis morphology", + "organ, curved phenotype", + "musculoskeletal system", + "skeletal element, curved phenotype", + "curvature anatomical entity", + "All", + "anatomical collection", + "Growth delay", + "diaphysis", + "skeleton of limb", + "limb bone", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "zeugopod phenotype", + "bone element, curved phenotype", + "multi-limb segment region", + "appendage phenotype", + "hindlimb zeugopod morphology phenotype", + "cyclic compound", + "multi-limb segment region phenotype", + "chemical entity level phenotype", + "amide", "Abnormality of limb bone", - "central nervous system", - "skin of face", - "regional part of brain", - "forelimb long bone", - "abnormal size of skull", - "forelimb", - "Abnormal forebrain morphology", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "aplasia or hypoplasia of eyeball of camera-type eye", - "sensory system", - "anus atresia", - "Short long bone", - "abnormal skull morphology", - "abnormal immune system", - "Acute leukemia", - "camera-type eye", - "abnormal shape of continuant", - "trunk", - "abnormal bone marrow cell", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "hemolymphoid system", - "nucleate cell", - "Neuroepithelial neoplasm", + "Proteinuria", + "protein-containing material entity", + "material anatomical entity, curved phenotype", + "pelvic complex", + "excretory system", + "long bone morphology phenotype", + "organ phenotype", + "lower limb segment phenotype", + "decreased size of the anatomical entity", + "blood", + "paired limb/fin segment, curved phenotype", + "primary amide", + "limb bone morphology phenotype", + "system", + "appendicular skeletal system", + "subdivision of organism along appendicular axis, curved phenotype" + ], + "has_phenotype_count": 11, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0013247", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 2", + "full_name": null, + "deprecated": null, + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": [ + "DOID:0080758", + "GARD:15655", + "MEDGEN:462002", + "OMIM:613388", + "UMLS:C3150652" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0000117", + "HP:0002148", + "HP:0000114", + "HP:0002757", + "HP:0002748", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", + "HP:0003076", + "HP:0003165", + "HP:0004322", + "HP:0002653", + "HP:0012213", + "HP:0002150", + "HP:0000083" + ], + "has_phenotype_label": [ + "Osteomalacia", + "Renal phosphate wasting", + "Hypophosphatemia", + "Proximal tubulopathy", + "Recurrent fractures", + "Rickets", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", + "Glycosuria", + "Elevated circulating parathyroid hormone level", + "Short stature", + "Bone pain", + "Decreased glomerular filtration rate", + "Hypercalciuria", + "Renal insufficiency" + ], + "has_phenotype_closure": [ + "HP:0002150", + "HP:0011280", + "UPHENO:0046344", + "CHEBI:33559", + "UPHENO:0068134", + "HP:0025142", + "HP:0012531", + "UPHENO:0075195", + "UPHENO:0069327", + "GO:0040007", + "HP:0001510", + "UPHENO:0081424", + "UPHENO:0069254", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0000541", + "UPHENO:0049874", + "UPHENO:0075159", + "HP:0000818", + "UPHENO:0068068", + "UPHENO:0051648", + "HP:0002152", + "UPHENO:0068971", + "CHEBI:33695", + "PR:000064867", + "UBERON:0000949", + "HP:0004360", + "UPHENO:0068442", + "UPHENO:0051612", + "UPHENO:0082943", + "HP:0430071", + "UPHENO:0068472", + "PR:000018263", + "CHEBI:33694", + "UPHENO:0068477", + "UBERON:0001969", + "HP:0012337", + "UBERON:0034923", + "HP:0100530", + "UBERON:0015204", + "UPHENO:0082536", + "HP:0001948", + "CHEBI:33917", + "HP:6000531", + "UPHENO:0068054", + "HP:0010876", + "CHEBI:35381", + "UPHENO:0080658", + "HP:0000093", + "CHEBI:16541", + "UPHENO:0068565", + "CHEBI:16670", + "CHEBI:15841", + "UPHENO:0079534", + "UPHENO:0068047", + "UPHENO:0069062", + "UPHENO:0049627", + "GO:0008202", + "PR:000013429", + "HP:0100508", + "UPHENO:0049873", + "CHEBI:33822", + "CHEBI:33832", + "GO:1901615", + "GO:1901360", + "UPHENO:0082539", + "CHEBI:37622", + "GO:0006775", + "UPHENO:0077817", + "GO:0071704", + "UPHENO:0076293", + "UPHENO:0068251", + "UPHENO:0048763", + "CHEBI:73558", + "HP:0004364", + "UPHENO:0078589", + "UPHENO:0078628", + "UPHENO:0046362", + "UPHENO:0046291", + "CHEBI:17823", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:27300", + "CHEBI:35788", + "UPHENO:0048711", + "UPHENO:0081547", + "UPHENO:0050502", + "CHEBI:18059", + "CHEBI:26191", + "UPHENO:0089759", + "CHEBI:35350", + "UPHENO:0066939", + "HP:0002653", + "UPHENO:0076703", + "HP:0012213", + "PR:000050567", + "BFO:0000003", + "UPHENO:0049618", + "CHEBI:33259", + "UPHENO:0051960", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0080352", + "UBERON:0000179", + "CHEBI:27136", + "BFO:0000004", + "UBERON:0000064", + "HP:0002148", + "UPHENO:0051630", + "UPHENO:0034253", + "UBERON:0000468", + "UBERON:0002417", + "CHEBI:78616", + "HP:0000077", + "HP:0033331", + "UBERON:0006555", + "HP:0100529", + "UPHENO:0002963", + "UPHENO:0005201", + "CHEBI:35352", + "UPHENO:0051686", + "CHEBI:33579", + "CHEBI:36357", + "GO:0008152", + "UPHENO:0051712", + "CHEBI:33595", + "UPHENO:0049587", + "CHEBI:33675", + "UPHENO:0002246", + "CHEBI:33318", + "HP:0003111", + "CHEBI:24431", + "HP:0001507", + "CHEBI:37577", + "HP:0000079", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "CHEBI:15693", + "UPHENO:0081544", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0002731", + "UBERON:8450002", + "UPHENO:0068169", + "HP:0032369", + "CHEBI:33302", + "UPHENO:0002269", + "CHEBI:23367", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:3000004", + "UPHENO:0077826", + "UPHENO:0002427", + "HP:0001939", + "CHEBI:26082", + "HP:0011277", + "UPHENO:0068491", + "CHEBI:36360", + "BFO:0000020", + "UPHENO:0066964", + "UPHENO:0002559", + "UPHENO:0049904", + "GO:0006766", + "UBERON:0000178", + "HP:0000118", + "UBERON:0001434", + "UPHENO:0002636", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0050116", + "UPHENO:0002525", + "UPHENO:0002870", + "HP:0032180", + "UPHENO:0002964", + "HP:0000119", + "UPHENO:0001003", + "UBERON:0002193", + "UPHENO:0002422", + "CHEBI:33241", + "UPHENO:0002526", + "CHEBI:33635", + "UBERON:0000061", + "CHEBI:36359", + "HP:0003110", + "UBERON:0001231", + "UPHENO:0089764", + "BFO:0000002", + "UPHENO:0084653", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000114", + "HP:0004349", + "GO:0042359", + "UPHENO:0082834", + "HP:0033405", + "BFO:0000040", + "UBERON:0013702", + "CHEBI:33304", + "PR:000000001", + "UPHENO:0002976", + "UPHENO:0051900", + "UPHENO:0051739", + "UBERON:0004120", + "CHEBI:35341", + "UPHENO:0002554", + "BFO:0000001", + "UPHENO:0066954", + "HP:0003330", + "GO:0044238", + "UPHENO:0001001", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0002252", + "UPHENO:0080643", + "UBERON:0011216", + "UPHENO:0005092", + "UBERON:0001062", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "UBERON:0000062", + "CHEBI:32988", + "UPHENO:0081581", + "HP:0000001", + "UBERON:0004111", + "HP:0012599", + "HP:0011842", + "HP:0033127", + "UPHENO:0051763", + "CHEBI:22313", + "CHEBI:51958", + "GO:0008150", + "UPHENO:0066960", + "UPHENO:0005285", + "UPHENO:0068064", + "CHEBI:72695", + "UPHENO:0051628", + "UPHENO:0002530", + "GO:0006629", + "UBERON:0001015", + "UPHENO:0003088", + "BFO:0000015", + "HP:0001871", + "UBERON:0003103", + "UPHENO:0068110", + "UPHENO:0002536", + "UPHENO:0076692", + "CHEBI:36963", + "GO:0042592", + "UBERON:0000489", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0003116", + "UPHENO:0051804", + "CHEBI:33250", + "UBERON:0002113", + "HP:0000117", + "HP:0012212", + "UBERON:0001977", + "UPHENO:0051635", + "UBERON:0000383", + "HP:0000083", + "GO:0032501", + "HP:0100511", + "UPHENO:0001002", + "CHEBI:33238", + "HP:0010935", + "UPHENO:0002287", + "UBERON:0004122", + "UPHENO:0002859", + "UPHENO:0005141", + "CHEBI:33839", + "CHEBI:26079", + "HP:0031415", + "UPHENO:0004791", + "HP:0011849", + "UPHENO:0048707", + "UPHENO:0082534", + "HP:0002749", + "UPHENO:0002668", + "UPHENO:0082835", + "GO:0044281", + "UBERON:0001088", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0004211", + "UPHENO:0002564", + "UBERON:0007684", + "UBERON:0009773", + "UPHENO:0052038", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002909", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000483", + "UPHENO:0068533", + "CHEBI:47042", + "UBERON:0005173", + "UPHENO:0066950", + "UPHENO:0066903", + "UBERON:0005177", + "UPHENO:0002210", + "HP:0012211", + "UPHENO:0076285", + "UBERON:0015212", + "UPHENO:0002411", + "HP:0004348", + "UPHENO:0002311", + "UPHENO:0002308", + "UPHENO:0003093", + "UBERON:0011676", + "UBERON:0009569", + "CHEBI:24651", + "HP:0003117", + "UBERON:0002390", + "UPHENO:0051709", + "UBERON:0010000", + "HP:0001992", + "UPHENO:0066943", + "UPHENO:0082875", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0003430", + "CHEBI:18133", + "HP:0025745", + "UPHENO:0002360", + "UPHENO:0024906", + "CHEBI:17234", + "UPHENO:0066946", + "CHEBI:24870", + "UPHENO:0003941", + "UPHENO:0002377", + "UPHENO:0002754", + "CHEBI:36853", + "UBERON:0004819", + "UPHENO:0003094", + "HP:0012591", + "UPHENO:0066925", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0002248", + "UPHENO:0089294", + "CHEBI:36587", + "UBERON:0000916", + "UPHENO:0002386", + "UBERON:0000479", + "UPHENO:0066959", + "UPHENO:0066913", + "UBERON:0000475", + "HP:0003165", + "UBERON:0013701", + "UBERON:0001285", + "UPHENO:0046284", + "UPHENO:0002426", + "UPHENO:0002346", + "UPHENO:0068049", + "CHEBI:51143", + "UBERON:0002204", + "UPHENO:0081440", + "HP:0032943", + "HP:0032245", + "HP:0002757", + "UPHENO:0002385", + "HP:0002659", + "HP:0011843", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "HP:0000938", + "HP:0012072", + "UPHENO:0046281", + "CHEBI:25806", + "CHEBI:33521", + "UPHENO:0082541", + "CHEBI:36586", + "CHEBI:35605", + "CHEBI:33709", + "CHEBI:33285", + "CHEBI:25367", + "UPHENO:0002267", + "UBERON:0003914", + "CHEBI:64709", + "CHEBI:33608", + "UPHENO:0046286", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:33575", + "CHEBI:50047", + "HP:0031980", + "HP:0000002", + "HP:0002157", + "UPHENO:0066921", + "HP:0033354", + "UPHENO:0049723", + "UPHENO:0046383", + "CHEBI:22984", + "CHEBI:26020", + "UBERON:0000463", + "HP:0040156", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0002642", + "HP:0002909", + "UPHENO:0068144", + "CHEBI:33674", + "UBERON:0001008", + "CHEBI:24833", + "CHEBI:50860", + "CHEBI:36962", + "HP:0003355" + ], + "has_phenotype_closure_label": [ + "Renal insufficiency", + "alkaline earth metal atom", + "Abnormality of urine calcium concentration", + "increased level of calcium atom in urine", + "calcium atom level phenotype", + "metal atom", + "Hypercalciuria", + "s-block element atom", + "Abnormal glomerular filtration rate", + "Pain", + "atom", + "anatomical entity height phenotype", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", + "growth", + "decreased height of the anatomical entity", + "Growth delay", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "protein", + "Elevated circulating parathyroid hormone level", + "Abnormality of the endocrine system", + "blood nitrogen molecular entity level phenotype", + "Abnormality of acid-base homeostasis", + "increased level of protein", + "Abnormal circulating organic amino compound concentration", + "blood organic amino compound level phenotype", + "increased level of chemical entity in blood serum", + "protein level phenotype", + "increased level of protein in blood", + "Alkalosis", + "Azotemia", + "parathyroid hormone", + "Hyperproteinemia", + "Acute phase response", + "Abnormal circulating nitrogen compound concentration", "non-connected functional system", - "Abnormal immune system morphology", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Acute myeloid leukemia", - "Short digit", - "Abnormality of the immune system", - "immune system", + "Short stature", + "endocrine system", + "blood serum", "disconnected anatomical group", - "abnormal cell", - "abnormal hematopoietic system", - "Neoplasm of the central nervous system", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "Ectopic kidney", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal cardiovascular system morphology", - "heart plus pericardium", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "organ part", - "abnormal incomplete closing of the anatomical entity", - "biological_process", - "cardiac atrium", - "vertebral element", - "viscus", - "circulatory organ", - "Abnormal forearm morphology", - "vertebra", - "Small for gestational age", - "Abnormal heart morphology", - "abnormal cardiovascular system", - "paired limb/fin segment", - "septum", - "subdivision of skeleton", - "Abnormal cardiac septum morphology", - "aplasia or hypoplasia of radius bone", - "abnormal long bone morphology", - "abnormal heart morphology", - "abnormal incomplete closing of the interatrial septum", - "obsolete nitrogen compound metabolic process", - "abnormal cardiac atrium morphology", - "Short finger", - "anterior region of body", - "decreased length of manual digit 1", - "manual digitopodium region", - "cervical region of vertebral column", - "upper urinary tract", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "abnormally localised anatomical entity", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Abnormal anus morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "Abnormal localization of kidney", - "aplasia or hypoplasia of manual digit", - "cardiac chamber", - "face", - "abnormal orbital region", - "axial skeletal system", + "blood plasma", + "increased level of nitrogen molecular entity in blood", + "blood protein polypeptide chain level phenotype", + "endocrine system phenotype", + "aldohexose", + "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", + "monosaccharide", + "urine glucose level phenotype", + "macromolecule", + "increased level of protein polypeptide chain in urine", + "peptide", + "Abnormal urine protein level", + "vitamin D metabolic process", + "small molecule metabolic process", + "glandular system", + "primary metabolic process", + "increased level of lipid in blood", + "blood plasma chemical entity level phenotype", + "role bodily fluid level phenotype", + "main group element atom", + "hormone blood level phenotype", + "increased level of chemical entity in blood", + "decreased height of the multicellular organism", + "organic hydroxy compound metabolic process phenotype", + "primary metabolic process phenotype", + "small molecule metabolic process phenotype", + "blood organic molecular entity level phenotype", + "carbohydrates and carbohydrate derivatives", + "organic hydroxy compound", + "polycyclic compound", + "increased blood role level", + "calcitriol", + "vitamin D", + "polyol", + "steroid metabolic process phenotype", + "steroid metabolic process", + "increased level of calcitriol in blood", + "growth phenotype", + "blood lipid level phenotype", + "vitamin metabolic process", + "increased level of lipid", + "organic hydroxy compound metabolic process", + "lipid metabolic process", + "triol", + "cyclic compound", + "steroid", + "lipid level phenotype", + "Abnormality of vitamin metabolism", + "organism substance", + "decreased level of chemical entity in blood", + "blood monoatomic ion level phenotype", + "mesoderm-derived structure phenotype", + "bone element", + "primary amide", + "elemental molecular entity", + "blood chemical entity level phenotype", + "hydroxy seco-steroid", + "hematopoietic system phenotype", + "monoatomic entity", + "subdivision of trunk", + "decreased functionality of the nephron tubule", + "Hypophosphatemia", + "monoatomic ion", + "heteroatomic molecular entity", + "excretory system", + "vitamin metabolic process phenotype", + "abdomen element phenotype", + "organic cyclic compound metabolic process", + "ion", + "biomacromolecule", + "p-block molecular entity", + "renal system physiology phenotype", + "pnictogen molecular entity", + "role blood serum level phenotype", + "trunk", + "chemical entity", + "amide", + "chemical entity level phenotype", + "trunk region element", + "Abnormal urine amino acid level", + "phosphorus molecular entity", + "tissue physiology phenotype", + "Abnormality of the skeletal system", + "amino acid level phenotype", + "hydroxycalciol", + "Abnormality of the urinary system physiology", + "renal system phenotype", + "Abnormality of the urinary system", + "Aciduria", + "organic molecule", + "trunk region element physiology phenotype", + "homeostatic process phenotype", + "main group molecular entity", + "urine phosphate level phenotype", + "material anatomical entity physiology phenotype", + "polyatomic entity", + "decreased size of the anatomical entity", + "blood", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "phosphate level phenotype", + "Alkalemia", + "Proteinuria", + "protein-containing material entity", + "phosphate", + "lipid metabolic process phenotype", + "bone element mass density phenotype", + "amino acid", + "molecule", "Growth abnormality", - "Pelvic kidney", - "abnormal pigmentation", - "heart", - "Abnormality of the head", - "organic substance metabolic process", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "abnormal renal system morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormality of the face", - "Abnormality of the orbital region", - "abnormal size of eyeball of camera-type eye", + "anatomical entity morphology phenotype", + "skeletal system phenotype", + "protein polypeptide chain", + "continuant", + "amino acid chain", + "anatomical system physiology phenotype", + "tissue", + "nephron", + "Abnormal homeostasis", + "organochalcogen compound", + "Increased susceptibility to fractures", + "skeletal element", + "cavitated compound organ", + "anatomical structure", + "Decreased glomerular filtration rate", + "musculature", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical conduit", + "musculoskeletal system phenotype", + "increased level of organic acid in urine", + "musculature of body", + "organic cyclic compound", + "Abnormal bone structure", + "blood serum chemical entity level phenotype", + "anatomical system", + "lipid", + "material anatomical entity", + "Abnormal circulating protein concentration", + "increased level of parathyroid hormone in blood serum", + "entity", + "metabolic process", + "Decreased anatomical entity mass density", + "taxon specific phenotype", + "Abnormal blood ion concentration", + "Abnormality of the musculoskeletal system", + "renal/urinary system phenotype", + "anatomical entity", + "anatomical structure phenotype", + "Abnormality of the genitourinary system", + "phosphoric acid derivative", + "quality", + "carbon oxoacid", + "Reduced bone mineral density", + "increased level of parathyroid hormone in blood", + "hydroxy steroid", + "renal tubule phenotype", + "nephron tubule phenotype", + "epithelial tube physiology phenotype", + "anatomical system phenotype", + "musculature phenotype", + "hematopoietic system", "multicellular organism", - "Thrombocytopenia", - "regulation of macromolecule biosynthetic process", - "orbital region", - "abdominal segment of trunk", - "biological regulation", - "regulation of cellular biosynthetic process", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "decreased length of forelimb zeugopod bone", - "eyeball of camera-type eye", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "abnormality of anatomical entity mass", - "Short neck", - "Aplasia/Hypoplasia involving the central nervous system", - "decreased multicellular organism mass", - "Abnormal atrial septum morphology", + "abdominal segment element physiology phenotype", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "increased level of vitamin D", + "tissue phenotype", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "urine calcium atom level phenotype", "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormality of multicellular organism mass", - "Growth delay", - "kidney", - "abnormal biological_process", - "Decreased multicellular organism mass", - "abnormally decreased number of cell", - "Abnormal leukocyte morphology", - "Abnormal platelet morphology", - "myeloid cell", - "platelet", - "Abnormality of bone marrow cell morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "cardiac septum", - "anucleate cell", - "oxygen accumulating cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal myeloid cell morphology", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "cavitated compound organ", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "regulation of biological process", + "size of anatomical entity phenotype", + "phenotypic effect", + "organ physiology phenotype", + "main body axis", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "anatomical conduit phenotype", + "multicellular anatomical structure phenotype", + "anatomical entity physiology phenotype", + "carboxamide", + "Generalized aminoaciduria", + "multicellular organism chemical entity level phenotype", + "skeletal system", + "lateral structure physiology phenotype", "Abnormality of metabolism/homeostasis", - "abnormal primary metabolic process", - "cellular component organization", - "obsolete cellular nitrogen compound metabolic process", - "postcranial axial skeletal system", - "organelle organization", - "negative regulation of biological process", - "regulation of cellular process", - "Chromosome breakage", - "abnormal chromatin organization", - "secretory cell", - "abnormal cellular process", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", - "regulation of gene expression", - "metabolic process", - "abnormal organelle organization", + "Osteopenia", + "Renal phosphate wasting", + "kidney physiology phenotype", + "increased blood serum base level", + "multicellular organismal process", + "organ part", + "multicellular anatomical structure", "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal cellular component organization", - "protein-containing complex organization", - "nucleic acid metabolic process", - "abnormal limb", - "negative regulation of cellular process", - "shape kidney", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "abnormal incomplete closing of the interventricular septum", - "regulation of macromolecule metabolic process", - "protein-DNA complex organization", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", + "organ", + "occurrent", + "haemolymphatic fluid", + "All", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "genitourinary system", + "multicellular anatomical structure physiology phenotype", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", "material entity", - "long bone", - "negative regulation of biosynthetic process", - "abnormal metabolic process", - "digestive system", - "obsolete cell", - "decreased length of long bone", - "programmed DNA elimination" + "organic amino compound", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "genitourinary system phenotype", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", + "Recurrent fractures", + "carbonyl compound", + "musculoskeletal system", + "fat-soluble vitamin metabolic process", + "hydrogen molecular entity", + "nephron tubule", + "organ system subdivision", + "Aminoaciduria", + "Abnormality of vitamin D metabolism", + "independent continuant", + "skeletal element phenotype", + "organ phenotype", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "vitamin D metabolic process phenotype", + "seco-steroid", + "bodily fluid", + "material anatomical entity phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "Abnormal circulating metabolite concentration", + "organic acid", + "ossification", + "calcium atom", + "increased blood serum role level", + "decreased functionality of the kidney epithelium", + "Phenotypic abnormality", + "information biomacromolecule", + "blood parathyroid hormone level phenotype", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "role blood level phenotype", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "Abnormal metabolism", + "organ system subdivision phenotype", + "epithelium phenotype", + "lateral structure", + "nephron epithelium", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "decreased functionality of the excretory tube", + "abdomen element", + "epithelium physiology phenotype", + "decreased functionality of the material anatomical entity", + "blood oxygen molecular entity level phenotype", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "organic molecular entity", + "epithelium", + "decreased functionality of the tube", + "Bone pain", + "Abnormality of the upper urinary tract", + "tube phenotype", + "increased bodily fluid base level", + "increased level of glucose in urine", + "blood phosphate level phenotype", + "nitrogen molecular entity level phenotype", + "body proper", + "decreased size of the material anatomical entity", + "biological_process phenotype", + "abdominal segment element phenotype", + "Constitutional symptom", + "tube physiology phenotype", + "cavitated compound organ phenotype", + "Renal tubular dysfunction", + "decreased functionality of the renal tubule", + "Abnormal circulating hormone concentration", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", + "homeostatic process", + "excretory tube physiology phenotype", + "decreased functionality of the tissue", + "Abnormal skeletal morphology", + "musculoskeletal system physiology phenotype", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "epithelial tube", + "tube", + "abdominal segment of trunk", + "urine amino acid level phenotype", + "abdomen", + "decreased level of chemical entity", + "Abnormal urine carboxylic acid level", + "decreased functionality of the anatomical conduit", + "trunk region element phenotype", + "decreased functionality of the anatomical structure", + "Abnormality of the kidney", + "excretory tube", + "oxoacid derivative", + "compound organ physiology phenotype", + "decreased functionality of the multicellular anatomical structure", + "uriniferous tubule", + "epithelial tube phenotype", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "Proximal tubulopathy", + "organism subdivision", + "D3 vitamins", + "nephron epithelium phenotype", + "decreased functionality of the epithelium", + "decreased functionality of the nephron epithelium", + "upper urinary tract phenotype", + "excretory tube phenotype", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "hemolymphoid system", + "Rickets", + "role urine level phenotype", + "carboxylic acid", + "decreased functionality of the epithelial tube", + "bone element phenotype", + "Abnormal urine pH", + "organic substance metabolic process", + "High serum calcitriol", + "increased level of chemical entity", + "increased urine role level", + "hydroxides", + "anatomical entity phenotype", + "organonitrogen compound", + "heteroorganic entity", + "organooxygen compound", + "Abnormal urine phosphate concentration", + "increased level of carboxylic acid in urine", + "excreta", + "organic oxo compound", + "multicellular organism morphology phenotype", + "Abnormal urine metabolite level", + "nitrogen molecular entity", + "urine chemical entity level phenotype", + "oxygen molecular entity", + "carbon group molecular entity", + "organic polycyclic compound", + "Abnormal renal physiology", + "chalcogen molecular entity", + "Organic aciduria", + "Elevated urinary carboxylic acid", + "metabolic process phenotype", + "compound organ phenotype", + "increased level of amino acid in urine", + "increased level of chemical entity in urine", + "vitamin D level phenotype", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in blood plasma", + "s-block molecular entity" ], - "has_phenotype_count": 25, + "has_phenotype_count": 17, "highlight": null, - "score": null - }, - { - "id": "MONDO:0013499", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", - "full_name": null, - "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FANCP", - "Fanconi Anemia, complementation group type P", - "Fanconi anaemia caused by mutation in SLX4", - "Fanconi anaemia caused by mutation in Slx4", - "Fanconi anaemia complementation group type P", - "Fanconi anemia caused by mutation in SLX4", - "Fanconi anemia caused by mutation in Slx4", - "Fanconi anemia complementation group type P", - "Fanconi anemia, complementation group P", - "SLX4 Fanconi anaemia", - "SLX4 Fanconi anemia", - "Slx4 Fanconi anaemia", - "Slx4 Fanconi anemia" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002984", - "HP:0009777", - "HP:0000957", - "HP:0000252", - "HP:0001510", - "HP:0000581", - "HP:0001876", - "HP:0000347", - "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0002860", - "HP:0001045" - ], - "has_phenotype_label": [ - "Hypoplasia of the radius", - "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Growth delay", - "Blepharophimosis", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Squamous cell carcinoma", - "Vitiligo" - ], - "has_phenotype_closure": [ - "HP:0002860", - "HP:0008069", - "HP:0000086", - "UBERON:0005156", - "GO:0032504", - "HP:0012243", - "UPHENO:0050101", - "UPHENO:0078452", - "UBERON:0003101", - "UPHENO:0049701", - "UBERON:0004054", - "UBERON:0000473", - "UPHENO:0085873", - "UPHENO:0049367", - "UPHENO:0086198", - "GO:0022414", - "UBERON:0004176", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "HP:0000035", - "HP:0000078", - "UPHENO:0002371", - "UPHENO:0086201", - "UPHENO:0003055", - "HP:0000811", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0005016", - "UBERON:0000463", - "UPHENO:0078729", - "HP:0008669", - "CL:0000408", - "UPHENO:0085194", - "UPHENO:0049940", - "UPHENO:0052778", - "HP:0000032", - "UBERON:0001968", - "GO:0000003", - "UPHENO:0087802", - "GO:0019953", - "GO:0003006", - "GO:0048609", - "UPHENO:0002378", - "UPHENO:0049985", - "GO:0007283", - "GO:0007276", - "UPHENO:0049970", - "UPHENO:0002598", - "CL:0000586", - "GO:0048232", - "UPHENO:0087547", - "UPHENO:0052178", - "UPHENO:0050625", - "HP:0012874", - "UPHENO:0002332", - "HP:0000028", - "UPHENO:0052231", - "GO:0007605", - "UPHENO:0005518", - "HP:0000598", - "GO:0050954", - "UPHENO:0052970", - "UBERON:0002105", - "UPHENO:0005433", - "UPHENO:0081424", - "UPHENO:0080351", - "UPHENO:0081423", - "UPHENO:0075159", - "GO:0005623", - "UPHENO:0049873", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0010629", - "GO:0065007", - "UPHENO:0050021", - "UPHENO:0050116", - "HP:0003221", - "GO:0010558", - "GO:0006325", - "UPHENO:0049700", - "GO:0031049", - "GO:0010556", - "GO:0009890", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0008152", - "HP:0000365", - "GO:0009987", - "GO:0050789", - "GO:0044238", - "HP:0031704", - "GO:0006807", - "UPHENO:0085875", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0046483", - "GO:0032501", - "UBERON:0013701", - "UBERON:0000073", - "GO:0034641", - "HP:0000929", - "HP:0009121", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0020888", - "GO:0043473", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0008523", - "UPHENO:0087518", - "NCBITaxon:1", - "UPHENO:0082682", - "GO:0060255", - "UBERON:0002097", - "UBERON:0002193", - "UBERON:0000004", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0054970", - "UBERON:0001016", - "HP:0001034", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0030791", - "UBERON:0007811", - "UPHENO:0026506", - "HP:0002977", - "UBERON:0010363", - "UBERON:0019221", - "NCBITaxon:2759", - "UBERON:5001463", - "UBERON:0002544", - "UPHENO:0002905", - "UBERON:0002199", - "HP:0000077", - "UPHENO:0076723", - "NCBITaxon:131567", - "UPHENO:0006910", - "UBERON:0003133", - "UBERON:5006048", - "UPHENO:0081435", - "HP:0000364", - "UPHENO:0021791", - "PATO:0000001", - "HP:0000234", - "UPHENO:0080114", - "HP:0011297", - "UBERON:0015001", - "HP:0001155", - "UPHENO:0080325", - "UBERON:0015203", - "UPHENO:0002642", - "UBERON:0012141", - "CL:0000738", - "UPHENO:0088116", - "UPHENO:0086700", - "NCBITaxon:33154", - "UBERON:0000970", - "UBERON:0004742", - "UPHENO:0026183", - "UPHENO:0002708", - "HP:0040068", - "UBERON:0005451", - "UBERON:0002416", - "UBERON:0012128", - "UPHENO:0053588", - "UPHENO:0002240", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0004053", - "UPHENO:0086005", - "UPHENO:0069254", - "UBERON:0003466", - "UBERON:0008785", - "UBERON:0010741", - "HP:0002692", - "UBERON:0004756", - "UBERON:0000062", - "UPHENO:0076702", - "UBERON:0000475", - "HP:0009821", - "UPHENO:0050008", - "HP:0006496", - "UBERON:0001434", - "UPHENO:0087973", + "score": null + }, + { + "id": "MONDO:0024525", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 1", + "full_name": null, + "deprecated": null, + "description": null, + "xref": [ + "DOID:0080757", + "MEDGEN:1635492", + "OMIM:134600", + "UMLS:C4551503" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "DeToni-Debré-Fanconi syndrome", + "FRTS1", + "Fanconi renotubular syndrome", + "Fanconi renotubular syndrome 1", + "Fanconi syndrome without cystinosis", + "Luder-Sheldon syndrome", + "adult Fanconi syndrome", + "primary Fanconi renal syndrome", + "primary Fanconi renotubular syndrome", + "renal Fanconi syndrome" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0003155", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0000083", + "HP:0003355", "HP:0004322", - "UPHENO:0075878", - "HP:0009778", - "HP:0005927", - "GO:0031327", - "HP:0002984", - "UPHENO:0046505", - "UPHENO:0041465", - "UPHENO:0001002", - "UBERON:0010708", - "UBERON:0000019", - "UPHENO:0080382", - "HP:0001000", - "UBERON:0000020", - "UBERON:0002386", - "HP:0001877", - "HP:0012733", - "UBERON:0003460", - "UPHENO:0080087", - "UBERON:0006717", - "UPHENO:0001003", - "HP:0100547", - "HP:0002011", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0002833", - "UPHENO:0078606", - "HP:0006265", - "GO:0071704", - "UBERON:0011159", - "HP:0000153", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0018390", - "UBERON:0001444", - "UPHENO:0088162", - "UBERON:0004710", - "UPHENO:0084448", - "UBERON:0011249", - "GO:0044237", - "UPHENO:0088166", - "HP:0007364", - "UPHENO:0080079", - "HP:0011844", - "GO:0009892", - "RO:0002577", - "HP:0000951", - "UPHENO:0002828", - "UPHENO:0084457", - "UPHENO:0009382", - "UPHENO:0080300", - "UBERON:0000153", - "UPHENO:0084766", - "UBERON:0015212", - "BFO:0000040", - "UBERON:0001442", - "UPHENO:0074584", - "UBERON:0012140", - "CL:0001035", - "UPHENO:0086633", - "UBERON:0011156", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0000957", - "UBERON:0000481", - "UBERON:0013702", - "UPHENO:0080187", - "UBERON:0003113", - "BFO:0000004", - "HP:0001574", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0080352", - "UBERON:0000075", - "UBERON:0000955", - "UBERON:0010703", - "HP:0000436", - "HP:0000025", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "UPHENO:0081204", - "UBERON:0001017", - "HP:0000002", - "HP:0000953", - "UPHENO:0076740", - "UBERON:0002514", - "UBERON:0012139", - "UPHENO:0012541", - "HP:0009601", - "UBERON:0003607", - "HP:0011961", - "GO:0043170", - "HP:0010938", - "HP:0008050", - "CL:0000151", - "HP:0001045", - "HP:0040070", - "UBERON:0002513", - "UBERON:0011138", - "GO:0031323", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0001711", - "UPHENO:0053298", - "UBERON:0000165", - "UPHENO:0076703", - "HP:0033127", - "HP:0007400", - "UBERON:0006048", - "UBERON:5002544", - "UPHENO:0087510", - "BFO:0000002", - "HP:0012639", - "UPHENO:0081790", - "UPHENO:0084763", - "UBERON:0007272", - "UPHENO:0031839", - "HP:0011314", - "UPHENO:0012274", - "UPHENO:0085118", - "UBERON:0002113", - "HP:0011121", - "HP:0000027", - "UPHENO:0069294", - "CL:0000019", - "HP:0003026", - "UPHENO:0085068", - "UBERON:0004708", - "UPHENO:0050108", - "HP:0000414", + "HP:0003126", + "HP:0001324" + ], + "has_phenotype_label": [ + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Elevated circulating alkaline phosphatase concentration", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Renal insufficiency", + "Aminoaciduria", + "Short stature", + "Low-molecular-weight proteinuria", + "Muscle weakness" + ], + "has_phenotype_closure": [ + "UPHENO:0002359", + "HP:0003011", + "UPHENO:0080555", + "HP:0001324", + "HP:0000093", + "CHEBI:16541", + "CHEBI:37622", + "UPHENO:0068565", + "CHEBI:16670", + "CHEBI:15841", "UPHENO:0075195", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002389", + "UPHENO:0069327", + "GO:0040007", + "UPHENO:0081424", + "UPHENO:0069062", + "UPHENO:0069254", + "UPHENO:0002949", + "UPHENO:0069266", + "UPHENO:0000541", + "UPHENO:0049874", + "UPHENO:0075159", + "HP:0003355", + "CHEBI:33674", + "UPHENO:0046286", + "UPHENO:0068144", + "UPHENO:0068169", + "HP:0031980", + "CHEBI:33575", + "CHEBI:33709", + "CHEBI:33608", + "CHEBI:24651", + "CHEBI:72695", + "CHEBI:35605", + "HP:0025745", + "CHEBI:18133", + "CHEBI:36962", + "CHEBI:25806", + "UPHENO:0068054", + "CHEBI:35381", + "UPHENO:0080658", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:36963", + "HP:0034359", + "UPHENO:0051191", + "GO:0003014", + "CHEBI:33917", + "HP:0011038", + "HP:0011036", + "UPHENO:0050106", + "UPHENO:0049703", + "UPHENO:0051280", + "GO:0003008", + "CHEBI:25367", + "HP:0011042", + "UPHENO:0089770", + "UPHENO:0089756", + "CHEBI:60242", + "CHEBI:36586", + "CHEBI:33521", + "CHEBI:24835", + "UPHENO:0034253", + "UBERON:0005090", "UBERON:0000468", - "UPHENO:0046538", - "UPHENO:0087349", - "UBERON:0002101", - "UPHENO:0021517", + "UBERON:0002417", + "CHEBI:22314", + "HP:0004379", + "HP:0000079", + "CHEBI:50860", + "UPHENO:0068971", + "CHEBI:33695", + "GO:0001503", + "CHEBI:36357", + "PR:000018263", + "HP:0012379", + "BFO:0000020", + "UPHENO:0068491", + "CHEBI:36360", + "UPHENO:0066964", + "CHEBI:50047", + "HP:0012337", + "CHEBI:33675", + "UPHENO:0003047", + "CHEBI:33694", + "CHEBI:23367", + "PR:000064867", + "UBERON:0009773", + "HP:6000531", + "UPHENO:0068352", + "CHEBI:35352", + "UPHENO:0002963", + "HP:0100529", + "UBERON:0006555", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0000179", + "CHEBI:33302", + "UPHENO:0002269", + "UBERON:8450002", + "CHEBI:60911", + "CHEBI:32988", + "UPHENO:0081581", "HP:0000001", - "UPHENO:0087950", - "UPHENO:0081313", - "UPHENO:0087006", - "UPHENO:0085144", - "GO:0007600", - "UPHENO:0041075", - "UPHENO:0076791", - "UPHENO:0086589", - "HP:0002817", - "UPHENO:0001001", - "UPHENO:0059829", - "UPHENO:0087846", - "UBERON:0001555", - "HP:0006501", - "UPHENO:0003811", - "UBERON:0002102", - "UPHENO:0080662", - "HP:0009777", - "UBERON:0004921", + "GO:0070293", + "UBERON:0004111", + "UPHENO:0046383", + "HP:0032943", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0002731", + "UPHENO:0002426", + "UPHENO:0046284", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0075666", + "UPHENO:0002411", + "UPHENO:3000004", + "UPHENO:0002427", + "HP:0000119", + "UPHENO:0002964", + "UBERON:0001088", + "HP:0012072", + "CHEBI:36587", + "UPHENO:0089294", "UBERON:0004120", - "HP:0040064", - "HP:0001167", - "HP:0040012", - "UPHENO:0022529", - "UBERON:0010707", - "UBERON:0005881", - "UBERON:0001062", - "HP:0001873", - "UBERON:0010314", - "HP:0005922", - "UBERON:0004175", + "HP:0001939", + "GO:0008152", + "UPHENO:0002385", + "UPHENO:0049587", + "HP:0004360", + "CHEBI:51143", + "UPHENO:0002346", + "HP:0001942", + "UPHENO:0068511", + "BFO:0000002", + "UPHENO:0002559", + "UPHENO:0049904", + "UBERON:0001434", + "UPHENO:0081777", + "UPHENO:0002636", + "UPHENO:0002525", + "UPHENO:0002870", + "CHEBI:33285", + "UPHENO:0001003", + "UPHENO:0080556", + "HP:0003155", + "HP:0002900", + "UPHENO:0076703", + "UPHENO:0066939", + "UBERON:0002204", + "UPHENO:0002526", + "UPHENO:0068110", + "UBERON:0003103", + "UBERON:0001231", + "UPHENO:0002320", + "UPHENO:0084653", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000118", + "UBERON:0000178", + "HP:0004349", + "UPHENO:0082834", + "UPHENO:0003022", + "BFO:0000040", + "UBERON:0000174", + "HP:0000924", + "UPHENO:0034199", + "PR:000000001", + "UPHENO:0002976", + "UPHENO:0066954", + "HP:0003330", + "UPHENO:0001001", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0002252", "UBERON:0011216", - "BFO:0000141", - "UPHENO:0085874", - "GO:0048519", - "UBERON:0006058", + "UBERON:0001062", + "UBERON:0000062", + "HP:0011842", + "UBERON:0001630", + "HP:0033127", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", + "UPHENO:0048707", + "UPHENO:0004791", + "HP:0011849", + "UPHENO:0051763", + "GO:0008150", + "UPHENO:0066960", + "UPHENO:0005285", + "UPHENO:0002530", + "UBERON:0001015", + "UPHENO:0003088", + "BFO:0000015", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "CHEBI:60004", "UPHENO:0002536", - "HP:0011017", - "NCBITaxon:33208", - "UBERON:0013765", - "HP:0001876", - "HP:0000118", - "GO:1901360", - "UBERON:0000061", - "UBERON:0035639", - "UBERON:0001890", - "HP:0045060", - "BFO:0000001", - "UPHENO:0002635", - "HP:0000080", - "UBERON:0010712", - "UBERON:0000026", - "HP:0009826", - "UPHENO:0081755", - "UBERON:0002471", - "UPHENO:0075198", - "UBERON:0002529", - "UBERON:0001423", - "UBERON:0004456", - "UPHENO:0074589", - "UPHENO:0076727", - "UBERON:0002428", - "UPHENO:0054957", - "UPHENO:0086956", - "UPHENO:0021561", - "UBERON:0002405", - "UBERON:0003606", - "HP:0009115", - "UPHENO:0004523", - "UBERON:0010758", - "UPHENO:0079872", - "UBERON:0002495", - "UBERON:0003278", - "UPHENO:0002751", - "UPHENO:0002880", - "UBERON:0012475", - "UPHENO:0085195", - "UBERON:0010000", - "UPHENO:0054577", - "UBERON:0002390", - "UPHENO:0082444", - "UBERON:0002204", + "UPHENO:0076692", + "GO:0042592", + "CHEBI:33582", "UBERON:0000465", - "UBERON:0001440", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0040195", - "GO:0090304", - "UPHENO:0046540", - "UBERON:0001893", - "HP:0005773", - "HP:0000366", - "UPHENO:0080126", - "HP:0002060", - "CL:0000988", - "UPHENO:0005651", - "UPHENO:0076718", - "HP:0000924", - "UBERON:0004121", - "UPHENO:0088170", - "UPHENO:0081792", - "UBERON:0010740", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0001460", - "GO:0040007", - "UBERON:0002091", - "UPHENO:0081314", - "UPHENO:0020584", - "GO:0003008", - "UBERON:0010538", - "HP:0009824", - "UBERON:0034925", - "UBERON:0000991", - "UBERON:0005944", - "UPHENO:0004459", - "HP:0001903", - "UBERON:0011582", - "HP:0040072", - "UBERON:0010912", - "CL:0000225", - "UBERON:0002090", - "UPHENO:0083646", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0086172", - "HP:0000152", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0080377", - "UBERON:0004111", - "UBERON:0011137", - "UPHENO:0087472", - "UPHENO:0074575", - "UPHENO:0046707", - "UPHENO:0003085", - "UBERON:0000033", - "HP:0000252", - "NCBITaxon:6072", - "UBERON:0000047", - "HP:0025461", - "HP:0000812", - "UPHENO:0086635", - "HP:0000240", - "UBERON:0012354", - "BFO:0000020", - "UPHENO:0081566", - "UBERON:0002616", - "UPHENO:0026181", - "UBERON:0001032", - "UPHENO:0002964", - "HP:0012443", + "UBERON:0000489", + "UBERON:0000467", + "UBERON:0004765", + "CHEBI:15693", + "UPHENO:0081544", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "UPHENO:0051635", + "UBERON:0000383", + "HP:0011804", + "HP:0000083", + "GO:0032501", + "UBERON:0004211", + "UPHENO:0001002", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", + "HP:0002749", + "UPHENO:0002668", + "UPHENO:0082835", + "CHEBI:64709", + "UPHENO:0002267", + "UBERON:0003914", + "HP:0002148", + "HP:0032180", + "CHEBI:33318", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33241", + "BFO:0000001", + "UPHENO:0002554", + "UBERON:0002193", + "UPHENO:0002422", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "HP:0001871", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "UPHENO:0051960", + "UPHENO:0066739", + "UPHENO:0075902", "HP:0001507", - "UPHENO:0086023", + "CHEBI:37577", "HP:0001510", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0001456", - "HP:0005105", - "UPHENO:0000543", - "UPHENO:0049874", - "HP:0030669", - "HP:0006503", - "UBERON:0002104", - "UBERON:0003462", - "UBERON:0034921", - "UBERON:0011584", - "UPHENO:0084987", - "HP:0032039", - "UBERON:0001819", - "UPHENO:0080200", - "HP:0200007", - "HP:0000315", - "UPHENO:0085189", - "HP:0045025", - "UPHENO:0041821", - "UPHENO:0020041", - "HP:0000271", - "UBERON:0001474", - "CL:0000329", - "HP:0000125", - "UPHENO:0002910", - "HP:0010461", - "UPHENO:0054567", - "HP:0012745", - "HP:0000492", - "UPHENO:0075220", - "UPHENO:0086595", - "UPHENO:0046753", - "UBERON:0003103", - "UPHENO:0034770", - "HP:0001939", - "UPHENO:0050845", - "UBERON:0034923", - "UBERON:0000161", - "UPHENO:0084761", - "HP:0001872", - "UPHENO:0076761", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "HP:0012145", - "UPHENO:0002903", - "UPHENO:0081466", - "CL:0002092", - "HP:0020047", - "UPHENO:0020950", - "HP:0000581", - "UPHENO:0085344", - "UPHENO:0076779", - "UPHENO:0087123", - "UPHENO:0081788", - "UPHENO:0087355", - "CL:0000457", - "UBERON:0000064", - "CL:0000081", - "CL:0000763", - "HP:0031816", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "CL:0000233", - "UBERON:0013522", - "UBERON:0001710", - "UBERON:0019231", - "UBERON:0010364", - "UPHENO:0002948", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0085984", - "UPHENO:0063722", - "HP:0001881", - "GO:0016043", - "UPHENO:0015280", - "UPHENO:0075902", - "UPHENO:0087339", - "CL:0000458", - "UPHENO:0087089", - "CL:0000764", - "HP:0002715", - "UBERON:0001690", - "UPHENO:0086173", - "UPHENO:0077426", - "CL:0000255", - "UPHENO:0080099", - "CL:0000219", - "CL:0002242", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0032502", - "UPHENO:0002832", - "HP:0032251", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "UPHENO:0075997", - "UBERON:0002371", - "CL:0000000", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "UPHENO:0085070", - "HP:0025354", - "UBERON:0000079", - "HP:0001871", - "UBERON:0000479", - "UPHENO:0079876", - "UBERON:0001007", - "HP:0025031", - "HP:0000347", - "UPHENO:0076803", - "HP:0009122", - "UPHENO:0081091", - "UPHENO:0080165", - "UBERON:0010313", - "CL:0000015", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0011595", - "HP:0011793", - "UBERON:0003135", - "HP:0009116", - "HP:0025033", - "UBERON:0004768", - "UPHENO:0081141", - "UBERON:0001684", - "UBERON:0015021", - "UBERON:0001708", - "UPHENO:0002896", - "GO:0043933", - "UBERON:0011158", - "HP:0034261", - "GO:0006725", - "UPHENO:0087501", - "UPHENO:0076800", - "UPHENO:0076692", - "UPHENO:0069249", - "UBERON:0012360", - "HP:0009118", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0000277", - "UPHENO:0046411", - "HP:0002664", - "UPHENO:0053644", - "UBERON:0007842", - "UPHENO:0087924", - "UBERON:0007914", - "HP:0011821", - "UBERON:0004088", + "HP:0003109", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", "UBERON:0000025", - "UPHENO:0081786", - "UBERON:0003457", - "GO:0050877", - "HP:0011927", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "HP:0009381", - "UBERON:0000466", - "UPHENO:0076805", - "UPHENO:0088168", - "UBERON:0002470", - "UBERON:0007827", - "OBI:0100026", - "UPHENO:0001072", - "UPHENO:0087907", - "UBERON:0034929", - "GO:0008150", - "UBERON:0006983", - "UBERON:0002268", - "GO:0031326", - "UPHENO:0065599", - "UPHENO:0084727", - "UPHENO:0087430", - "UPHENO:0084715", - "CL:0000300", - "HP:0012130", - "UPHENO:0041629", - "UBERON:0011143", + "UPHENO:0051739", + "UPHENO:0051900", + "CHEBI:33238", + "CHEBI:33259", + "HP:0011277", + "UPHENO:0046283", + "UBERON:0000064", + "CHEBI:26082", + "UPHENO:0002287", + "UBERON:0004122", + "HP:0010935", + "UPHENO:0002246", + "UPHENO:0005141", + "UPHENO:0002859", + "CHEBI:78616", + "HP:0000077", + "UPHENO:0002564", + "UBERON:0007684", + "UPHENO:0066951", + "UBERON:0005172", + "UPHENO:0002909", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000483", + "UBERON:0005173", + "UPHENO:0066950", + "UPHENO:0066903", "UBERON:0005177", - "UBERON:0001008", - "UPHENO:0087427", - "UBERON:0002398", + "UPHENO:0002210", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", + "HP:0012211", + "UBERON:0015212", + "HP:0004348", + "UPHENO:0002311", + "UPHENO:0002308", + "UPHENO:0003093", + "UBERON:0011676", "UBERON:0009569", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", + "HP:0000002", + "HP:0033354", + "UPHENO:0066921", + "HP:0001992", + "UPHENO:0051709", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0066943", + "HP:0004322", + "UPHENO:0002568", + "CHEBI:26216", + "UPHENO:0082875", + "CHEBI:28358", + "UBERON:0002100", + "UBERON:0001474", + "UPHENO:0003430", + "UPHENO:0002360", + "UPHENO:0024906", + "CHEBI:17234", + "UPHENO:0066946", + "CHEBI:24870", + "UPHENO:0003941", + "UPHENO:0002377", + "UPHENO:0002754", + "UBERON:0004819", + "UPHENO:0003094", + "HP:0012591", + "UPHENO:0066925", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0002248", "UBERON:0000916", - "UPHENO:0041226", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0005173", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "UBERON:8450002", - "HP:0000085", - "UBERON:0001463", - "UBERON:0008962", - "UBERON:0008907", - "HP:0012210", - "GO:0006996", - "HP:0000079", - "GO:0048523", - "GO:0009889", - "HP:0003220", - "UPHENO:0050113" + "UPHENO:0002386", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UPHENO:0066959", + "UPHENO:0066913", + "UBERON:0000475", + "UBERON:0013701", + "UBERON:0001285", + "HP:0012599", + "UPHENO:0005201", + "HP:0010929", + "UPHENO:0081547", + "UBERON:0002113", + "CHEBI:33250", + "CHEBI:33559", + "UPHENO:0051645", + "CHEBI:36914", + "UPHENO:0079822", + "UBERON:0000061", + "CHEBI:36916" ], "has_phenotype_closure_label": [ - "Neoplasm of the skin", - "Pelvic kidney", - "Ectopic kidney", - "Abnormal reproductive system morphology", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "absent germ cell", - "external male genitalia", - "testis", - "Azoospermia", - "male gamete generation", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male germ cell", - "male gamete", - "Abnormal testis morphology", - "semen", - "reproduction", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormal external genitalia", - "reproductive process", - "abnormally localised anatomical entity in independent continuant", - "abnormal internal genitalia", - "external genitalia", - "internal genitalia", - "gonad", - "haploid cell", - "reproductive system", - "organism substance", - "abnormal gamete", - "sperm", - "abnormal location of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "absent gamete", - "germ cell", - "gamete", - "reproductive structure", - "decreased qualitatively developmental process", - "abnormal reproductive system morphology", - "decreased spermatogenesis", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "spermatogenesis", - "decreased developmental process", - "abnormal testis morphology", - "Cryptorchidism", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormality of reproductive system physiology", - "abnormal sensory perception", - "Hearing abnormality", - "decreased sensory perception of sound", - "ear", - "abnormal developmental process", - "sensory perception", - "system process", - "multicellular organismal process", - "abnormality of anatomical entity physiology", - "sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", + "decreased muscle organ strength", + "muscle structure physiology phenotype", + "muscle structure phenotype", + "Abnormality of the musculature", + "muscle organ physiology phenotype", + "muscle organ", + "increased level of protein polypeptide chain in urine", + "peptide", + "Abnormal urine protein level", + "Low-molecular-weight proteinuria", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "multicellular organism height phenotype", + "decreased size of the anatomical structure", + "growth", + "growth phenotype", + "decreased height of the anatomical entity", + "Growth delay", + "delayed growth", + "multicellular organism phenotype", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased size of the multicellular anatomical structure", + "s-block molecular entity", + "molecule", + "amino acid level phenotype", + "Elevated urinary carboxylic acid", + "Organic aciduria", + "Abnormal urine amino acid level", + "hydroxides", + "organic molecule", + "increased level of organic acid in urine", + "amino acid", + "carbonyl compound", + "carboxylic acid", + "urine amino acid level phenotype", + "Renal insufficiency", + "aldohexose", + "hexose", + "Abnormal urinary organic compound level", + "aldose", + "glucose", + "organooxygen compound", + "monosaccharide", + "urine glucose level phenotype", + "carbohydrates and carbohydrate derivatives", + "renal absorption", + "renal absorption phenotype", + "Abnormality of renal excretion", + "renal system process", + "cation", + "inorganic ion", + "decreased level of potassium atom in blood", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "role bodily fluid level phenotype", + "Abnormal blood monovalent inorganic cation concentration", + "potassium atom level phenotype", + "Hypophosphatemia", + "monoatomic ion", + "protein", + "macromolecule", + "organic molecular entity", + "kidney phenotype", + "cavitated compound organ physiology phenotype", + "pnictogen molecular entity", + "Abnormal urine metabolite level", + "multicellular organism morphology phenotype", + "heteroatomic molecular entity", + "tube phenotype", + "increased level of glucose in urine", + "blood phosphate level phenotype", + "nitrogen molecular entity level phenotype", + "body proper", + "alkaline phosphatase, tissue-nonspecific isozyme level phenotype", + "anatomical system phenotype", + "musculature phenotype", + "organic amino compound", + "material entity", + "Abnormality of alkaline phosphatase level", + "excretory system", + "abdomen element phenotype", + "alkaline phosphatase, tissue-nonspecific isozyme", + "nephron epithelium", + "increased level of monosaccharide in urine", + "anatomical conduit physiology phenotype", + "polyatomic entity", + "racemate", + "renal system physiology phenotype", + "rac-lactic acid", + "amide", + "chemical entity level phenotype", + "trunk region element", + "chemical substance", + "organic oxo compound", + "excreta", + "Abnormality of the urinary system", + "Aciduria", + "renal system phenotype", + "metal atom", + "Abnormality of the urinary system physiology", + "increased level of chemical entity in urine", + "increased urine role level", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "Abnormality of acid-base homeostasis", + "tube", + "Metabolic acidosis", + "chemical entity", "Short stature", - "abnormal size of multicellular organism", - "abnormal metabolic process", - "abnormal chromatin organization", - "negative regulation of gene expression", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "abnormal reproductive process", - "regulation of macromolecule metabolic process", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "abnormal sensory perception of sound", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "metabolic process", - "cellular process", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal DNA metabolic process", - "Chromosome breakage", - "organism", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Decreased head circumference", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "visual system", - "Abnormal skull morphology", - "Abnormal cellular immune system morphology", - "Abnormal cerebral morphology", - "arm bone", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "forebrain", - "regional part of nervous system", - "Narrow palpebral fissure", - "renal system", - "multi-tissue structure", - "main body axis", - "abnormal kidney morphology", - "craniocervical region", - "root", - "appendage", - "abnormal nervous system", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "pigmentation", - "abnormal integument", - "Abnormality of skin pigmentation", - "skeleton of limb", - "aplasia or hypoplasia of skull", - "neural crest-derived structure", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "increased qualitatively biological_process in independent continuant", - "absent sperm", - "limb segment", - "biological_process", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", - "segment of manus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "gamete generation", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal immune system morphology", - "Abnormal myeloid cell morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal digit morphology", - "agenesis of anatomical entity", - "telencephalon", - "digit", - "Hyperpigmentation of the skin", - "skeleton of manus", - "obsolete multicellular organism reproduction", - "cellular organisms", - "abnormal manus morphology", - "Absent thumb", - "abnormal autopod region morphology", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "Neoplasm", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "abnormal size of anatomical entity", - "abnormal phenotype by ontology source", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "abnormal cellular metabolic process", - "Aplasia/Hypoplasia of facial bones", - "musculoskeletal system", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "paired limb/fin", - "Hypoplasia of the radius", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", - "abnormal multicellular organismal reproductive process", - "manual digit", - "U-shaped anatomical entity", - "abnormal central nervous system morphology", - "abnormal reproductive system", - "abnormal kidney", - "Aplasia/Hypoplasia of the radius", - "subdivision of skeleton", - "endochondral bone", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "quality", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", + "inorganic molecular entity", + "Acidosis", + "upper urinary tract phenotype", + "increased level of chemical entity", + "inorganic cation", + "alkali metal atom", + "bone element mass density phenotype", + "Abnormal blood cation concentration", + "Growth abnormality", + "anatomical entity morphology phenotype", + "Abnormal skeletal morphology", + "skeletal system phenotype", + "carbon group molecular entity", + "main group molecular entity", + "Elevated circulating alkaline phosphatase concentration", + "protein polypeptide chain", + "system process phenotype", + "continuant", + "amino acid chain", + "anatomical system physiology phenotype", + "tissue", + "nephron", + "skeletal element", + "cavitated compound organ", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "muscle organ phenotype", + "anatomical structure", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical conduit", + "Abnormal muscle physiology", + "organochalcogen compound", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "oxygen molecular entity", + "urine chemical entity level phenotype", + "Abnormality of the musculoskeletal system", + "musculature of body", + "Abnormal bone structure", "anatomical system", - "lateral structure", - "abnormal limb bone morphology", + "role urine level phenotype", + "muscle structure", + "material anatomical entity", "entity", - "subdivision of skeletal system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "absent manual digit", - "decreased size of the mandible", + "metabolic process", + "Decreased anatomical entity mass density", + "taxon specific phenotype", + "Abnormal blood ion concentration", + "multicellular organismal process phenotype", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "main group element atom", + "Abnormal renal tubular resorption", + "renal/urinary system phenotype", + "anatomical entity", + "p-block molecular entity", + "biomacromolecule", + "Hypokalemia", + "anatomical structure phenotype", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "renal tubule phenotype", + "nephron tubule phenotype", + "Abnormality of the skeletal system", + "Impaired renal tubular reabsorption of phosphate", + "hematopoietic system", + "multicellular organism", + "abdominal segment element physiology phenotype", + "protein-containing molecular entity", + "tissue phenotype", + "Aminoaciduria", "organ system subdivision", - "decreased length of palpebral fissure", - "erythrocyte", - "abnormal blood cell", - "abnormal radius bone morphology", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "body proper", - "regulation of gene expression", - "pectoral appendage", - "Abnormality of the skin", - "forelimb endochondral element", - "primary metabolic process", - "skeletal system", - "motile cell", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal face", - "zeugopod", - "skeletal element", - "abnormal anatomical entity morphology in the pectoral complex", - "upper limb segment", - "appendicular skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "Microcephaly", - "Abnormality of the musculoskeletal system", + "Abnormal circulating enzyme concentration or activity", "organism subdivision", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "radius bone hypoplasia", - "subdivision of organism along appendicular axis", - "manual digit plus metapodial segment", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "dermatocranium", - "pectoral complex", - "trunk region element", - "radius endochondral element", - "material anatomical entity", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "Squamous cell carcinoma", - "mesoderm-derived structure", - "abnormality of ear physiology", + "urine", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "process", + "bone element", + "mesoderm-derived structure phenotype", + "Lacticaciduria", + "multicellular anatomical structure phenotype", + "anatomical entity physiology phenotype", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "carboxamide", + "multicellular organism chemical entity level phenotype", + "skeletal system", + "lateral structure physiology phenotype", + "Abnormality of metabolism/homeostasis", + "decreased size of the anatomical entity", + "blood", + "heteroorganic entity", + "multicellular organismal process", + "Muscle weakness", + "organ part", "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal arm", - "hematopoietic system", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", + "specifically dependent continuant", + "organ", + "occurrent", + "All", + "decreased size of the multicellular organism", + "Decreased bone element mass density", "genitourinary system", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "endochondral element", - "multi-limb segment region", - "appendicular skeletal system", - "system", - "bone marrow cell", - "Aplasia/hypoplasia involving bones of the hand", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "decreased qualitatively biological_process", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal craniocervical region morphology", - "continuant", - "absent sperm in the semen", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "Abnormality of the ocular adnexa", - "abnormally localised anatomical entity", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "skeleton", - "increased size of the anatomical entity", - "limb", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "abnormal nervous system morphology", - "abnormal cell morphology", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", - "Abnormality of the genitourinary system", - "blood cell", - "head bone", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "forelimb zeugopod skeleton", - "facial skeleton", - "bone of appendage girdle complex", - "aplastic manual digit 1", - "dentary", - "segment of autopod", - "organic cyclic compound metabolic process", + "multicellular anatomical structure physiology phenotype", + "anatomical entity height phenotype", + "atom", + "carbohydrate", + "biological_process", + "renal tubule", + "nitrogen molecular entity", + "renal system", + "kidney epithelium phenotype", + "phenotype", + "anatomical entity mass density phenotype", + "epithelial tube physiology phenotype", + "potassium atom", + "musculoskeletal system", + "hydrogen molecular entity", + "nephron tubule", + "anatomical entity phenotype", + "organonitrogen compound", "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "arm", - "abnormal nose morphology", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", - "postcranial axial skeletal system", - "abnormal digit morphology", - "skeleton of lower jaw", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "eye", - "compound organ", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal mouth", - "forelimb zeugopod", - "cranial skeletal system", - "Abnormality of head or neck", - "abnormal head morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "postcranial axial skeleton", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "tissue", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "forelimb long bone", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "forelimb", - "Abnormal forebrain morphology", - "abnormal limb morphology", - "anatomical conduit", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "sensory system", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "axial skeletal system", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Abnormal localization of kidney", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "kidney", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "delayed growth", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "Abnormality of the face", - "multi organ part structure", + "skeletal element phenotype", + "organ phenotype", + "bodily fluid", + "material anatomical entity phenotype", + "skeletal system morphology phenotype", + "subdivision of organism along main body axis", + "excretory tube phenotype", + "upper urinary tract", + "Abnormality of urine homeostasis", + "decreased functionality of the kidney epithelium", + "Phenotypic abnormality", + "Hyperphosphaturia", + "homeostatic process phenotype", + "trunk region element physiology phenotype", + "material anatomical entity physiology phenotype", + "urine phosphate level phenotype", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "information biomacromolecule", + "decreased size of the material anatomical entity", + "abdominal segment element phenotype", + "biological_process phenotype", + "organic acid", + "ossification", + "Abnormal circulating metabolite concentration", + "size of anatomical entity phenotype", + "phenotypic effect", + "organ physiology phenotype", + "main body axis", + "organism substance", + "Rickets", "hemolymphoid system", - "organ part", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormality of the orbital region", - "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "orbital region", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", + "Abnormal urine pH", + "bone element phenotype", + "decreased functionality of the epithelial tube", + "haemolymphatic fluid", + "phosphate", + "primary amide", + "elemental molecular entity", + "ion", + "increased level of rac-lactic acid in urine", + "blood chemical entity level phenotype", + "blood potassium atom level phenotype", + "hematopoietic system phenotype", + "quality", + "phosphoric acid derivative", + "Abnormal urine carboxylic acid level", + "system process", + "decreased level of chemical entity", + "decreased level of chemical entity in blood", + "genitourinary system phenotype", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "phosphorus molecular entity", + "tissue physiology phenotype", + "trunk", + "Proteinuria", + "protein-containing material entity", + "phosphate level phenotype", + "blood cation level phenotype", + "blood monoatomic ion level phenotype", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "monoatomic entity", + "subdivision of trunk", + "decreased functionality of the nephron tubule", + "chalcogen molecular entity", + "Abnormal renal physiology", + "kidney physiology phenotype", + "organ system subdivision phenotype", + "epithelium phenotype", + "lateral structure", + "decreased functionality of the excretory tube", "abdomen element", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal bone of pectoral complex morphology", + "epithelium physiology phenotype", + "decreased functionality of the material anatomical entity", + "epithelium", + "decreased functionality of the tube", + "Abnormality of the upper urinary tract", + "tube physiology phenotype", + "cavitated compound organ phenotype", + "Renal tubular dysfunction", + "decreased functionality of the renal tubule", + "anatomical structure physiology phenotype", + "abdomen element physiology phenotype", + "homeostatic process", + "excretory tube physiology phenotype", + "decreased functionality of the tissue", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "abdominal segment of trunk", + "abdomen", + "increased level of amino acid in urine", + "compound organ phenotype", + "decreased functionality of the anatomical conduit", + "trunk region element phenotype", + "decreased functionality of the anatomical structure", + "Abnormality of the kidney", + "excretory tube", + "decreased functionality of the multicellular anatomical structure", + "uriniferous tubule", + "epithelial tube phenotype", + "renal system process phenotype", + "anatomical entity dysfunction in independent continuant", + "nephron epithelium phenotype", + "decreased functionality of the epithelium", + "decreased functionality of the nephron epithelium", + "kidney", + "oxoacid derivative", + "compound organ physiology phenotype", + "increased level of phosphate in urine", + "anatomical conduit phenotype", + "blood monovalent inorganic cation level phenotype", + "s-block element atom", + "musculature", + "decreased role blood level", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "role blood level phenotype", + "monovalent inorganic cation" + ], + "has_phenotype_count": 16, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0100238", + "category": "biolink:Disease", + "name": "inherited Fanconi renotubular syndrome", + "full_name": null, + "deprecated": null, + "description": "An instance of Fanconi renotubular syndrome that is inherited.", + "xref": ["OMIMPS:134600"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": ["hereditary Fanconi renotubular syndrome"], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, + { + "id": "HP:0001994", + "category": "biolink:PhenotypicFeature", + "name": "Renal Fanconi syndrome", + "full_name": null, + "deprecated": null, + "description": null, + "xref": null, + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "De toni-fanconi-debre syndrome", + "Renal tubular fanconi syndrome" + ], + "uri": null, + "iri": null, + "namespace": "HP", + "has_phenotype": null, + "has_phenotype_label": null, + "has_phenotype_closure": null, + "has_phenotype_closure_label": null, + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0011584", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group D1", + "full_name": null, + "deprecated": null, + "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.", + "xref": [ + "DOID:0111089", + "GARD:17449", + "MEDGEN:325420", + "MESH:C563980", + "NCIT:C125705", + "OMIM:605724", + "Orphanet:319462", + "SCTID:766707003", + "UMLS:C1838457" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FAD1", + "FANCD1", + "Fad1", + "Fanconi anemia complementation group D1", + "Fanconi anemia, complementation group D1", + "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0000252", + "HP:0004808", + "HP:0009778", + "HP:0005528", + "HP:0001511", + "HP:0000957", + "HP:0003221", + "HP:0001508", + "HP:0004322", + "HP:0006727", + "HP:0002023" + ], + "has_phenotype_label": [ + "Microcephaly", + "Acute myeloid leukemia", + "Short thumb", + "Bone marrow hypocellularity", + "Intrauterine growth retardation", + "Cafe-au-lait spot", + "Chromosomal breakage induced by crosslinking agents", + "Failure to thrive", + "Short stature", + "T-cell acute lymphoblastic leukemias", + "Anal atresia" + ], + "has_phenotype_closure": [ + "UPHENO:0086644", + "HP:0004378", + "HP:0002023", + "UPHENO:0063599", + "UPHENO:0074227", + "UBERON:0001245", + "UPHENO:0074229", + "UBERON:0000025", + "UBERON:0000161", + "UPHENO:0076803", + "HP:0025031", + "UPHENO:0002812", + "UPHENO:0074230", + "UPHENO:0074245", + "UPHENO:0074228", + "UPHENO:0002668", + "HP:0000002", + "UPHENO:0081424", + "UPHENO:0080351", + "UPHENO:0010799", + "UPHENO:0054374", + "UPHENO:0010763", + "HP:0004325", + "UPHENO:0010808", + "UPHENO:0002949", + "HP:0001508", + "UPHENO:0010795", + "UPHENO:0082761", + "GO:0005623", + "UPHENO:0050007", + "HP:0025033", + "UPHENO:0049775", + "HP:0001939", + "GO:0010468", + "GO:0031327", + "UPHENO:0049904", + "GO:0050794", + "GO:0019222", + "GO:0048519", + "GO:0065007", + "GO:0008152", + "GO:0060255", + "GO:0048523", + "UPHENO:0050025", + "UPHENO:0049620", + "UPHENO:0050435", + "UPHENO:0050063", + "HP:0003220", + "GO:0031049", + "GO:0031052", + "GO:0009890", + "GO:0031324", + "HP:0003221", + "GO:0010629", + "UPHENO:0050778", + "HP:0001034", + "HP:0011121", + "HP:0000953", + "GO:0043473", + "HP:0001574", + "UPHENO:0049757", + "HP:0000957", + "UPHENO:0080662", + "HP:0000951", + "UBERON:0002097", + "UBERON:0002416", + "UPHENO:0002635", + "UPHENO:0052160", + "HP:0006721", + "UPHENO:0049642", + "UPHENO:0050106", + "UPHENO:0053456", + "GO:0009790", + "UPHENO:0082794", + "GO:0032501", + "UPHENO:0049874", + "BFO:0000015", + "UPHENO:0005647", + "HP:0001510", + "HP:0001507", + "BFO:0000003", + "UPHENO:0080382", + "HP:0011355", + "UPHENO:0005573", + "UPHENO:0005597", + "UPHENO:0005642", + "UPHENO:0050034", + "UPHENO:0003811", + "GO:0048856", + "HP:0034915", + "GO:0007275", + "UPHENO:0000541", + "UPHENO:0000543", + "HP:0001511", + "UBERON:0001007", + "UBERON:0000479", + "CL:0002092", + "UBERON:0002371", + "HP:0005528", + "UPHENO:0080393", + "HP:0012145", + "GO:0010556", + "PR:000050567", + "UPHENO:0050068", + "HP:0011297", + "UPHENO:0002944", + "UPHENO:0012308", + "UPHENO:0046411", + "HP:0012733", + "UPHENO:0046445", + "HP:0007400", + "UPHENO:0069236", + "HP:0001155", + "UPHENO:0079876", + "UPHENO:0086700", + "UPHENO:0084763", + "HP:0045060", + "UPHENO:0063581", + "UPHENO:0086633", + "UBERON:0001474", + "UPHENO:0052694", + "UBERON:0006058", + "UBERON:5002389", + "UBERON:5006048", + "UBERON:0002544", + "HP:0040068", + "CL:0002242", + "HP:0032251", + "HP:0004377", + "HP:0010987", + "HP:0000924", + "UPHENO:0074237", + "GO:0032502", + "UBERON:0001440", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0088186", + "HP:0009815", + "UBERON:0000075", + "UPHENO:0063562", + "CL:0002191", + "UPHENO:0046624", + "UPHENO:0005431", + "UBERON:0000475", + "HP:0000240", + "HP:0004323", + "UPHENO:0046741", + "RO:0002577", + "UBERON:0000073", + "HP:0000929", + "UBERON:0000955", + "UPHENO:0063565", + "UBERON:0010912", + "UPHENO:0052178", + "UBERON:0011582", + "UPHENO:0054970", + "UBERON:0002616", + "PATO:0000001", + "UBERON:0011249", + "UPHENO:0075804", + "UPHENO:0075195", + "HP:0005561", + "UBERON:0000153", + "UPHENO:0002902", + "UPHENO:0002839", + "UPHENO:0050126", + "UPHENO:0069684", + "UPHENO:0002896", + "UPHENO:0005596", + "UBERON:0002204", + "UPHENO:0010850", + "UPHENO:0049743", + "UPHENO:0001002", + "BFO:0000004", + "HP:0002813", + "UBERON:0013702", + "UPHENO:0050008", + "UPHENO:0087518", + "OBI:0100026", + "UBERON:0002091", + "UPHENO:0002733", + "HP:0001881", + "HP:0002817", + "GO:0050789", + "UBERON:0013701", + "UPHENO:0074584", + "BFO:0000040", + "NCBITaxon:33154", + "UBERON:0006048", + "UPHENO:0002736", + "UPHENO:0053330", + "HP:0011842", + "HP:0006265", + "GO:0009889", + "UPHENO:0002548", + "HP:0000234", + "UPHENO:0005433", + "UPHENO:0080114", + "HP:0001000", + "UBERON:0012354", + "UBERON:0001893", + "UBERON:0004375", + "UPHENO:0002530", + "NCBITaxon:1", + "UPHENO:0087907", + "UBERON:0000033", + "HP:0025354", + "UPHENO:0003025", + "UBERON:0034923", + "UPHENO:0050108", + "UBERON:0004288", + "HP:0002715", + "UPHENO:0046505", + "UPHENO:0012440", + "HP:0040195", + "UPHENO:0002816", + "UPHENO:0054315", + "UPHENO:3000000", + "HP:0009121", + "UPHENO:0086589", + "UPHENO:0076791", + "UPHENO:0001001", + "UBERON:0001015", + "UPHENO:0049868", + "UPHENO:0003082", + "HP:0000118", + "GO:0008150", + "UPHENO:0003049", + "HP:0040012", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0011216", + "HP:0005922", + "UPHENO:0050784", + "UPHENO:0076739", + "HP:0007364", + "UPHENO:0080099", + "UBERON:0000468", + "UBERON:0001463", + "UPHENO:0002525", + "UPHENO:0002870", + "HP:0012443", + "UPHENO:0002553", + "UPHENO:0074575", + "HP:0002011", + "UPHENO:0003004", + "UPHENO:0003095", + "UBERON:0000383", + "UPHENO:0004523", + "UBERON:0010758", + "UPHENO:0046740", + "HP:0025461", + "UPHENO:0069674", + "UPHENO:0076805", + "UPHENO:0003001", + "CL:0000255", + "GO:0010558", + "UBERON:0008785", + "UBERON:0007811", + "UPHENO:0012312", + "UBERON:0010363", + "HP:0002977", + "UBERON:0019221", + "UPHENO:0046750", + "UBERON:0000062", + "UPHENO:0080377", + "UBERON:0001016", + "UBERON:0001017", + "UPHENO:0002586", + "UBERON:0011676", + "UPHENO:0076740", + "UPHENO:0076703", + "UPHENO:0002554", + "BFO:0000001", + "UPHENO:0088166", + "HP:0000152", + "UPHENO:0080126", + "UPHENO:0076799", + "UBERON:0000481", + "GO:0042592", + "UBERON:0034925", + "UBERON:0005944", + "UPHENO:0084761", + "UBERON:0001890", + "UPHENO:0080200", + "NCBITaxon:6072", + "GO:0009892", + "GO:0010605", + "HP:0011844", + "UPHENO:0080079", + "CL:0000219", + "CL:0002031", + "HP:0000252", + "UBERON:0012475", + "HP:0011793", + "UBERON:0004121", + "UBERON:0010740", + "UPHENO:0076702", + "UPHENO:0078606", + "HP:0002664", + "HP:0002488", + "UBERON:0011137", + "UPHENO:0002963", + "UBERON:0001555", + "BFO:0000020", + "UPHENO:0002945", + "CL:0000835", + "UBERON:0000465", + "HP:0002060", + "CL:0000988", + "UPHENO:0002764", + "UBERON:0002199", + "UBERON:0002193", + "UBERON:0010000", + "UBERON:0002390", + "CL:0000839", + "CL:0000000", + "UPHENO:0063596", + "UBERON:0004120", + "UPHENO:0050065", + "UPHENO:0002861", + "UPHENO:0002964", + "UBERON:0002101", + "UBERON:0010707", + "CL:0011115", + "HP:0001871", + "UBERON:0002470", + "UPHENO:0081423", + "UBERON:0015203", + "HP:0004808", + "UPHENO:0002948", + "UPHENO:0002926", + "UPHENO:0003065", + "UPHENO:0003005", + "UPHENO:0081566", + "CL:0011026", + "UPHENO:0087123", + "HP:0001909", + "UPHENO:0049966", + "CL:0001035", + "CL:0008001", + "UPHENO:0002983", + "CL:0000763", + "HP:0012639", + "BFO:0000002", + "UPHENO:3000003", + "HP:0000707", + "UPHENO:0086172", + "HP:0009115", + "HP:0001172", + "NCBITaxon:131567", + "UPHENO:0076723", + "UPHENO:0002905", + "UPHENO:0002536", + "UPHENO:0076692", + "NCBITaxon:33208", + "UPHENO:0046528", + "UPHENO:0069266", + "UPHENO:0076727", + "UBERON:0000061", + "UPHENO:0076724", + "HP:0009381", + "UPHENO:0050040", + "UPHENO:0002593", + "UBERON:0015212", + "UPHENO:0046552", + "UPHENO:0054304", + "NCBITaxon:2759", + "UBERON:0002389", + "UPHENO:0081581", + "UBERON:5001463", + "GO:0040007", + "UBERON:0001460", + "UPHENO:0068971", + "GO:0031323", + "UBERON:0011138", + "UBERON:0002513", + "UBERON:0002529", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0049587", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0004708", + "UBERON:0010538", + "UBERON:0010712", + "UBERON:0010708", + "UBERON:0012139", + "GO:0031326", + "UBERON:0002090", + "UPHENO:0002526", + "HP:0040064", + "HP:0001167", + "UPHENO:0063577", + "UPHENO:0002708", + "UPHENO:0063558", + "HP:0011017", + "UPHENO:0002976", + "UBERON:0012141", + "UPHENO:0002782", + "UPHENO:0002600", + "UPHENO:0002833", + "HP:0004322", + "UPHENO:0002568", + "UBERON:0003129", + "UBERON:0015061", + "UPHENO:0001003", + "UBERON:0006717", + "UPHENO:0052778", + "HP:0011927", + "UPHENO:0012274", + "UPHENO:0053208", + "UBERON:0002102", + "UPHENO:0002632", + "UBERON:0004111", + "UBERON:0005451", + "UBERON:0012140", + "UBERON:0002398", + "UPHENO:0003069", + "UPHENO:0002648", + "UPHENO:0002746", + "UPHENO:0069605", + "UPHENO:0087006", + "CL:0000738", + "UBERON:0005881", + "UBERON:5002544", + "UPHENO:0069327", + "UBERON:0010323", + "UPHENO:0046707", + "UPHENO:0002559", + "HP:0006727", + "UPHENO:0069062", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "UBERON:0001434", + "HP:0006496", + "HP:0009778", + "UPHENO:0002830", + "UPHENO:0003799", + "UPHENO:0084448", + "UBERON:0004710", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0046483", + "UPHENO:0063594", + "HP:0009601", + "HP:0005927", + "UBERON:0004381", + "UPHENO:0004476", + "UBERON:0007272", + "UPHENO:0054957", + "UPHENO:0004459", + "UBERON:0002428", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0046426" + ], + "has_phenotype_closure_label": [ + "anus", + "closing of the multicellular anatomical structure", + "multicellular anatomical structure atresia", + "digestive tract", + "anatomical conduit atresia", + "anus morphology phenotype", + "Abnormal anus morphology", + "Anal atresia", + "anus atresia", + "tube", "orifice", - "ocular adnexa", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "cellular metabolic process", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal immune system", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "sensory perception of mechanical stimulus", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", + "orifice phenotype", + "Abnormal digestive system morphology", + "closing of the anatomical entity", + "digestive system morphology phenotype", + "T-cell acute lymphoblastic leukemias", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "decreased height of the anatomical entity", + "size of multicellular organism phenotype", + "Abnormality of body height", + "decreased qualitatively growth", + "multicellular organism mass phenotype", + "multicellular anatomical structure mass phenotype", + "closing of the anatomical structure", + "material anatomical entity mass phenotype", + "anatomical entity mass phenotype", + "multicellular organism phenotype", + "Abnormality of body weight", + "anatomical structure mass phenotype", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "biological regulation", + "regulation of cellular biosynthetic process", + "negative regulation of cellular metabolic process", + "Chromosome breakage", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of metabolic process phenotype", + "regulation of cellular metabolic process phenotype", + "Abnormality of metabolism/homeostasis", + "closing of the material anatomical entity", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "negative regulation of biological process", "obsolete cell", - "decreased length of long bone", - "digestive system", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "abnormal hematopoietic system morphology", - "abnormal limb long bone morphology", + "programmed DNA elimination", + "regulation of cellular biosynthetic process phenotype", + "Abnormal skin morphology", + "increased biological_process", + "increased pigmentation in skin of body", + "Irregular hyperpigmentation", + "skin of body phenotype", + "pigmentation", + "Hypermelanotic macule", + "skin of body morphology phenotype", + "Cafe-au-lait spot", + "increased biological_process in skin of body", + "increased pigmentation", + "integumental system", + "skin of body", + "Macule", + "Abnormality of the integument", + "decreased embryo development", + "negative regulation of biosynthetic process", + "decreased qualitatively multicellular organismal process", + "closing of the anatomical conduit", + "decreased qualitatively biological_process", + "process", + "developmental process rate phenotype", + "anatomical structure development phenotype", + "biological_process", + "developmental process", + "multicellular organismal process", + "Acute lymphoblastic leukemia", + "growth", + "decreased multicellular organismal process", + "growth phenotype", + "biological_process rate phenotype", + "decreased qualitatively multicellular organism development", + "regulation of cellular process phenotype", + "anatomical structure development", + "decreased anatomical structure development", + "decreased qualitatively anatomical structure development", + "decreased qualitatively embryo development", + "delayed growth", + "embryo development rate phenotype", + "embryo development", + "delayed biological_process", + "Abnormality of multiple cell lineages in the bone marrow", + "tissue", + "digestive system phenotype", + "negative regulation of macromolecule metabolic process", + "Abnormal bone marrow cell morphology", + "Aplasia/hypoplasia involving the skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal limb bone morphology", + "Abnormal finger morphology", + "organ phenotype", + "endochondral bone phenotype", + "skeletal element phenotype", + "decreased size of the manual digit", + "bone of appendage girdle complex phenotype", + "decreased length of digit 1", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the anatomical structure", + "limb bone phenotype", + "bone element phenotype", + "regulation of gene expression", + "autopod region morphology phenotype", + "Localized skin lesion", + "Abnormal hand morphology", + "digit plus metapodial segment", + "autopodial extension", + "Abnormality of limbs", + "decreased anatomical structure mass", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased length of digit", + "skeleton of pectoral complex", + "appendicular skeletal system", + "paired limb/fin segment", + "Opisthokonta", + "Abnormality of skin pigmentation", + "skeleton of limb", + "myeloblast", + "anatomical entity morphology in the pectoral complex phenotype", + "granulocytopoietic cell", "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", + "independent continuant", + "anatomical entity morphology in the manus phenotype", + "negative regulation of gene expression phenotype", + "multicellular organism development", + "segment of autopod", + "hemolymphoid system", + "central nervous system", + "multi-tissue structure phenotype", + "Decreased multicellular organism mass", + "Abnormal brain morphology", + "cellular organisms", + "skull morphology phenotype", + "Abnormal skull morphology", + "Abnormality of head or neck", + "decreased length of digit 1 or 5", + "regional part of nervous system", + "forebrain", + "appendage phenotype", + "brain", + "aplasia or hypoplasia of manual digit 1", + "bone marrow cell", + "system", + "manus phenotype", + "craniocervical region phenotype", + "main body axis", + "organism subdivision phenotype", + "endochondral element", + "nervous system", + "anatomical entity atresia", + "decreased length of material anatomical entity", "nucleate cell", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", + "Decreased anatomical entity mass", + "manual digitopodium region", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "anatomical entity", + "skull phenotype", + "mesoderm-derived structure phenotype", + "bone element", + "negative regulation of gene expression", + "Phenotypic abnormality", + "anus phenotype", + "material entity", "regulation of macromolecule biosynthetic process", - "multicellular organism", - "Thrombocytopenia", + "head phenotype", + "organism subdivision", + "regional part of brain phenotype", + "limb segment phenotype", + "telencephalon", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "Abnormal axial skeleton morphology", + "ectoderm-derived structure phenotype", + "hematopoietic system phenotype", + "anterior region of body", + "appendicular skeleton", + "upper limb segment", + "decreased multicellular organism development", + "regional part of nervous system phenotype", + "regulation of macromolecule metabolic process phenotype", + "Bone marrow hypocellularity", + "skeletal element", + "Aplasia/Hypoplasia involving the central nervous system", + "decreased size of the organism subdivision", + "negative regulation of metabolic process", + "musculature phenotype", + "Abnormal nervous system morphology", + "anatomical system phenotype", + "decreased size of the digit", + "autopodial extension phenotype", + "Chromosomal breakage induced by crosslinking agents", + "forebrain morphology phenotype", + "regulation of cellular process", + "craniofacial/craniocervical phenotype", + "appendage", + "anatomical entity phenotype", + "root", + "immune system", + "myeloid cell", + "quality", + "musculoskeletal system", + "Abnormal cell morphology", + "phenotype", + "head morphology phenotype", + "Abnormality of the anus", + "organ system subdivision", + "anatomical conduit phenotype", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", + "Metazoa", + "multi-tissue structure", + "decreased multicellular anatomical structure mass", + "increased qualitatively biological_process", + "All", + "anatomical collection", + "nervous system phenotype", "Abnormality of the immune system", - "male reproductive organ", + "Abnormal cerebral morphology", + "specifically dependent continuant", + "Abnormal forebrain morphology", + "multi-limb segment region phenotype", + "anatomical conduit", + "Abnormality of the head", + "Decreased head circumference", + "biological regulation phenotype", + "Abnormality of skull size", + "pectoral complex", + "homeostatic process phenotype", + "brain morphology phenotype", + "anatomical entity length phenotype", + "aplasia or hypoplasia of anatomical entity", + "decreased growth", "disconnected anatomical group", - "abnormal cell", - "cavitated compound organ", - "Abnormal leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "abnormal hematopoietic system", - "digit 1", - "abnormal platelet morphology", - "aplasia or hypoplasia of mandible", - "nucleobase-containing compound metabolic process", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "subdivision of tube", - "Aplasia/Hypoplasia involving bones of the skull", - "mouth", - "abnormal mandible morphology", - "anatomical entity hypoplasia in face", - "abnormal jaw skeleton morphology", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", + "material anatomical entity atresia", + "regulation of gene expression phenotype", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of biological process phenotype", + "subdivision of skeletal system", + "Leukemia", + "entity", + "continuant", + "multicellular anatomical structure", + "neoplasm phenotype", + "telencephalon phenotype", + "progenitor cell", + "size of anatomical entity phenotype", + "phenotypic effect", + "pectoral appendage skeleton", + "regional part of brain", + "musculature", + "anatomical structure", + "Hyperpigmentation of the skin", + "digit", + "limb endochondral element phenotype", + "Decreased body weight", + "decreased qualitatively developmental process", + "postcranial axial skeleton", + "material anatomical entity", + "structure with developmental contribution from neural crest phenotype", + "bone of appendage girdle complex", + "regulation of biological process", + "hematopoietic lineage restricted progenitor cell", + "nervous system morphology phenotype", + "digit 1 phenotype", + "decreased size of the multicellular organism", + "myeloid lineage restricted progenitor cell", + "telencephalon morphology phenotype", + "ectoderm-derived structure atresia", + "immune system morphology phenotype", + "decreased material anatomical entity mass", + "subdivision of organism along main body axis", + "integument phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "manus", + "decreased developmental process", + "central nervous system morphology phenotype", + "axial skeletal system", + "motile cell", + "skeletal system", + "multicellular anatomical structure phenotype", + "multicellular organism height phenotype", + "cranial skeletal system", + "limb morphology phenotype", + "decreased length of manual digit", + "Eumetazoa", + "Eukaryota", + "Abnormality of the musculoskeletal system", + "subdivision of skeletal system phenotype", "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", - "abnormal male reproductive system", - "abnormal mouth morphology", - "Abnormality of the upper limb", + "programmed DNA elimination by chromosome breakage", + "Growth abnormality", + "size of skull phenotype", + "anatomical entity morphology phenotype", + "multicellular organism development phenotype", + "subdivision of organism along appendicular axis", + "musculature of body", + "body proper", + "pectoral appendage", + "regulation of biosynthetic process phenotype", + "subdivision of organism along main body axis phenotype", + "taxon specific phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Morphological central nervous system abnormality", + "digestive system", + "Abnormal leukocyte morphology", + "precursor cell", + "manual digit 1 plus metapodial segment", + "skeletal system phenotype", + "Abnormality of the skin", + "organ system subdivision phenotype", + "craniocervical region", + "aplasia or hypoplasia of telencephalon", + "Growth delay", + "decreased length of multicellular anatomical structure", + "bone of free limb or fin phenotype", + "anatomical structure phenotype", + "bone of free limb or fin", + "craniocervical region morphology phenotype", + "aplasia or hypoplasia of skeleton", + "anatomical system", + "occurrent", + "appendicular skeleton morphology phenotype", + "organ", + "Aplasia/Hypoplasia of the cerebrum", + "multicellular organism morphology phenotype", + "Abnormal cellular immune system morphology", + "subdivision of organism along appendicular axis phenotype", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "manual digit plus metapodial segment", + "integument", + "leukocyte morphology phenotype", + "limb bone", + "mesoderm-derived structure", + "non-connected functional system", + "skeletal system morphology phenotype", + "cell phenotype", + "Abnormal cellular phenotype", "Neoplasm by anatomical site", - "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "Abnormality of body height", - "tube", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal digit", - "lower jaw region", - "abnormal primary metabolic process", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the genital system", - "intramembranous bone", - "structure with developmental contribution from neural crest", - "bone of craniocervical region", - "abnormal head bone morphology", - "abnormal manus", - "bone element hypoplasia in face", - "Short finger", - "anterior region of body", "decreased length of manual digit 1", - "Short digit", - "Abnormal nasal tip morphology", - "Abnormal external nose morphology", - "anatomical point", - "olfactory organ", - "Abnormality of the nose", - "entire sense organ system", - "abnormal external nose morphology", - "immaterial anatomical entity", - "nose", - "aplastic anatomical entity", - "Bulbous nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "abnormal erythrocyte morphology", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "3-D shape anatomical entity", - "abnormal renal system", - "concave 3-D shape anatomical entity", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "excretory system", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "upper urinary tract", - "Abnormality of the kidney", - "Horseshoe kidney", - "abnormal renal system morphology", - "developmental process", - "negative regulation of metabolic process", + "Acute leukemia", + "embryo development phenotype", "manual digit 1 or 5", - "shape kidney", - "Chromosomal breakage induced by crosslinking agents", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "abnormal pigmentation", - "Abnormality of the head", - "organic substance metabolic process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "regulation of biological process", - "Abnormality of metabolism/homeostasis", - "cellular component organization" + "Neoplasm", + "hematopoietic cell", + "leukocyte", + "skeleton", + "immune system phenotype", + "Abnormality of blood and blood-forming tissues", + "Abnormal immune system morphology", + "digit 1", + "aplasia or hypoplasia of manual digit", + "organism", + "autopod region", + "Abnormal cellular physiology", + "forelimb morphology phenotype", + "limb segment", + "multicellular organismal process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "decreased size of the multicellular anatomical structure", + "Short finger", + "skeleton of manus", + "Failure to thrive", + "paired limb/fin phenotype", + "autopod region phenotype", + "Abnormal appendicular skeleton morphology", + "closing of the ectoderm-derived structure", + "limb endochondral element", + "autopodial skeleton", + "lateral structure", + "Acute myeloid leukemia", + "Short digit", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "anatomical collection phenotype", + "limb bone morphology phenotype", + "manual digit", + "arm", + "material anatomical entity phenotype", + "manus morphology phenotype", + "hematopoietic system", + "multicellular organism", + "arm phenotype", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "limb phenotype", + "Microcephaly", + "skeleton phenotype", + "paired limb/fin", + "forelimb skeleton", + "Abnormal thumb morphology", + "appendage girdle complex", + "digit phenotype", + "bone marrow", + "acropodium region", + "developmental process phenotype", + "paired limb/fin segment phenotype", + "protein-containing material entity", + "segment of manus", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "skull", + "decreased length of organism subdivision", + "decreased length of anatomical entity", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "digit 1 plus metapodial segment", + "decreased length of anatomical structure", + "Hematological neoplasm", + "Abnormality of the hand", + "hematopoietic precursor cell", + "limb", + "cell", + "Abnormality of the upper limb", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal digit morphology", + "orifice atresia", + "subdivision of skeleton", + "endochondral bone", + "decreased length of autopodial extension", + "upper limb segment phenotype", + "digit morphology phenotype", + "digit 1 or 5 phenotype", + "limb skeleton subdivision", + "manual digit morphology in the manus phenotype", + "multi-limb segment region", + "pigmentation phenotype", + "manual digit phenotype", + "Intrauterine growth retardation", + "Short thumb", + "anatomical structure atresia", + "manual digit 1 morphology phenotype", + "endochondral element phenotype", + "decreased length of manual digit 1 or 5", + "head", + "Abnormality of limb bone", + "biological_process phenotype", + "decreased size of the material anatomical entity" ], - "has_phenotype_count": 20, + "has_phenotype_count": 11, "highlight": null, "score": null }, { - "id": "MONDO:0014986", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", + "name": "Fanconi anemia complementation group O", "full_name": null, "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.", - "xref": ["DOID:0111090", "GARD:16214", "OMIM:617244", "UMLS:C4284093"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": [ + "DOID:0111096", + "GARD:15656", + "MEDGEN:462003", + "OMIM:613390", + "UMLS:C3150653" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCR", - "Fanconi Anemia, complementation group R", - "Fanconi Anemia, complementation group type R", - "Fanconi anaemia caused by mutation in RAD51", - "Fanconi anaemia complementation group type R", - "Fanconi anemia caused by mutation in RAD51", - "Fanconi anemia complementation group type R", - "Fanconi anemia, complementation GROUP R", - "RAD51 Fanconi anaemia", - "RAD51 Fanconi anemia" + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0001249", "HP:0009777", - "HP:0000238", - "HP:0006433", - "HP:0002650", - "HP:0002023", 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"UPHENO:0078606", + "HP:0034057", + "HP:0006265", + "UPHENO:0074330", + "UBERON:0005409", + "UPHENO:0081423", + "UBERON:0008878", + "UPHENO:0063586", + "GO:0042592", + "UPHENO:0049743", + "UBERON:0003460", + "UPHENO:0076723", + "UBERON:0001007", + "UPHENO:0079876", + "UPHENO:0049868", + "UPHENO:0003082", + "HP:0034058", + "UBERON:0015061", + "UPHENO:0002568", + "HP:0004322", + "BFO:0000003", + "PR:000050567", + "GO:0010556", + "UBERON:5002389", + "UPHENO:0027017", + "UBERON:8450002", + "UBERON:0001440", "UBERON:0004121", - "GO:0040007", + "HP:0000924", + "UPHENO:0011572", + "UPHENO:0003088", + "UBERON:0004489", + "UBERON:0010363", + "UPHENO:0012312", + "UPHENO:0046483", + "UBERON:0010314", "UBERON:0001460", - "HP:0003764", + "UPHENO:0068839", + "MPATH:55", + "UPHENO:0009209", + "UBERON:0000161", + "UPHENO:0002593", + "UPHENO:0050040", + "UPHENO:0001001", + "HP:0002817", + "GO:0031327", + "HP:0002984", "UBERON:0019221", - "UPHENO:0011498", - "GO:0032501", - "UPHENO:0026506", - "HP:0001903", - "UBERON:0005944", - "UBERON:0034925", - "UBERON:0004708", - "HP:0009815", - "UBERON:0000075", - "UBERON:0001434", - "HP:0006496", - "UPHENO:0014240", - "UBERON:0000060", - "HP:0009115", - "GO:0010605", - "GO:0009892", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0087501", - "HP:0009380", - "UBERON:0000475", - "UBERON:0000062", - "UPHENO:0085068", + "UBERON:0010712", + "HP:0005922", + "UBERON:0005178", + "UPHENO:0002861", + "PATO:0000001", + "UBERON:0011249", + "HP:0001510", + "HP:0010944", + "UBERON:0010740", + "GO:0031052", + "UBERON:0000489", "UPHENO:0009382", "UBERON:5001463", - "HP:0000238", - "UPHENO:0076803", - "GO:0010558", - "UBERON:0008785", - "UBERON:0012139", - "UPHENO:0056212", - "UPHENO:0078606", - "HP:0002664", - "UBERON:0000064", - "UPHENO:0035147", - "UBERON:0005282", - "HP:0000929", - "UBERON:0000073", "RO:0002577", - "UBERON:0000955", - "UBERON:0005281", - "UPHENO:0088047", - "UPHENO:0076702", - "GO:0016043", - "HP:0002011", - "UBERON:0000047", - "HP:0025461", - "UPHENO:0076805", - "UBERON:0004086", - "UPHENO:0047299", + "UPHENO:0081581", + "GO:0050789", + "UBERON:0013701", + "UBERON:0002513", "GO:0031323", + "GO:0048523", "HP:0000079", - "UBERON:0002513", - "UBERON:0011138", - "HP:0040068", - "UPHENO:0026183", - "UPHENO:0056072", - "UBERON:0002028", - "BFO:0000002", - "HP:0012639", - "HP:0031938", - "UBERON:0000463", - "HP:0025031", - "UBERON:0000161", - "UBERON:0002104", - "HP:0002118", - "UBERON:0004733", - "UPHENO:0056333", - "HP:0012443", - "UBERON:0002386", - "UBERON:0015021", - "GO:0009987", - "UBERON:0010703", - "UPHENO:0079872", - "UPHENO:0002751", + "HP:0003220", + "UBERON:0002529", + "UBERON:0000062", + "UPHENO:0075893", + "UBERON:0004710", + "UPHENO:0002782", + "UPHENO:0080099", + "UPHENO:0076724", + "UPHENO:0081451", + "UPHENO:0002969", + "UPHENO:0018390", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002101", + "UBERON:0003135", + "UPHENO:0025585", + "HP:0009115", + "GO:0031049", + "UBERON:0002075", + "UBERON:0010758", + "UPHENO:0086172", + "UPHENO:0001044", + "UBERON:0004480", + "UPHENO:0002600", + "UBERON:0011582", + "UBERON:0015212", + "UPHENO:0063639", + "UPHENO:0046552", + "UPHENO:0003095", + "UPHENO:0008523", + "UBERON:0004375", + "UBERON:0012140", + "UBERON:0000026", + "UBERON:0011584", + "UBERON:0006058", + "GO:0048519", + "HP:0011314", + "UBERON:0007271", + "UBERON:0006048", + "UBERON:5002544", + "UPHENO:0087510", + "BFO:0000002", + "UPHENO:0053559", + "HP:0040012", + "UBERON:0010707", + "UBERON:0004120", + "HP:0011297", + "UBERON:0010000", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0046455", + "UBERON:0005451", + "UBERON:0004111", "BFO:0000020", - "UBERON:0001555", - "UPHENO:0080114", + "UBERON:0012354", + "UPHENO:0002442", + "GO:0065007", + "UBERON:0007272", + "UPHENO:0046396", + "HP:0040068", + "UPHENO:0002708", + "UPHENO:0084761", + "UBERON:5006048", + "UBERON:0003133", + "UPHENO:0050063", + "HP:0000035", + "UPHENO:0002530", + "NCBITaxon:6072", + "UPHENO:0076776", + "UPHENO:0080126", + "UPHENO:0087006", + "HP:0001155", "UBERON:0015001", - "UBERON:0004456", + "UPHENO:0076727", + "UPHENO:0025507", + "UPHENO:0080114", + "UPHENO:0002659", + "HP:0000107", + "UPHENO:0003799", + "UBERON:0017716", + "GO:0019222", + "UPHENO:0002896", + "UBERON:0000153", + "UPHENO:0002647", + "UPHENO:0003056", + "UPHENO:0046484", + "UPHENO:0008548", + "HP:0025031", + "UPHENO:0049904", + "UBERON:0000475", + "UPHENO:0002559", + "UPHENO:0026643", + "UBERON:0007269", + "UBERON:0002091", + "UPHENO:0002733", + "HP:0000028", + "MPATH:56", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0053580", + "UBERON:0012475", + "UPHENO:0002880", + "UPHENO:0075159", + "UPHENO:0002870", + "UPHENO:0002525", + "UPHENO:0026146", + "HP:0001446", + "UPHENO:0084841", + "UPHENO:0050126", + "UPHENO:0002852", + "NCBITaxon:2759", + "UPHENO:0003045", + "UPHENO:0081091", + "UPHENO:0076710", + "UPHENO:0084834", + "UPHENO:0002427", + "HP:0009127", + "HP:0003241", + "HP:0010935", + "UBERON:0012361", + "UPHENO:0002246", + "UBERON:0011676", + "HP:0001172", + "HP:0002973", + "UPHENO:0002909", + "HP:0003774", + "UBERON:0005173", + "UPHENO:0075902", + "HP:0012211", + "UPHENO:0002411", + "UPHENO:0002963", + "UPHENO:0025587", + "UPHENO:0002308", + "UPHENO:0002983", + "UBERON:0002398", + "UBERON:0009569", + "HP:0011024", + "UPHENO:0002812", + "UBERON:0011216", + "UPHENO:0002360", + "UPHENO:0002377", + "HP:0010945", + "UPHENO:0002754", + "UPHENO:0002385", + "UBERON:0003607", + "UPHENO:0046460", + "HP:0011277", + "UBERON:0005177", + "UBERON:0003103", + "UPHENO:0003094", + "UBERON:0001009", + "UBERON:0002113", + "UPHENO:0012274", + "UPHENO:0076810", + "UPHENO:0004507", + "UBERON:0002417", + "UBERON:0000916", + "UPHENO:0002386", + "UBERON:0001008", + "UPHENO:0002269", + "UBERON:0006717", + "UPHENO:0002426", + "HP:0000811", + "UPHENO:0002267", + "HP:0000119", + "UPHENO:0068898", + "UPHENO:0001360", + "UPHENO:0046531", "UBERON:0001423", - "UPHENO:0087924", - "UPHENO:0001002", - "UBERON:0003460", - "UPHENO:0086956", - "UBERON:0006048", - "UPHENO:0087510", - "UBERON:0004381", - "UBERON:0008962", - "HP:0004378", - "HP:0031936", - "GO:0048519", - "HP:0011314", + "UPHENO:0046554", "UPHENO:0086644", + "UPHENO:0046505", + "UPHENO:0068921", + "HP:0006503", + "UPHENO:0069605", + "HP:0005773", + "UPHENO:0086956", + "UPHENO:0063581", + "UPHENO:0001303", + "UPHENO:0079872", + "UPHENO:0046594", + "UPHENO:0069030", + "UBERON:0000948", + "UPHENO:0069046", + "UPHENO:0074335", + "UPHENO:0008668", + "UPHENO:0068971", + "UPHENO:0069292", + "UBERON:0013702", + "UPHENO:0080187", + "UPHENO:0069254", + "UPHENO:0002422", + "UBERON:0003466", + "UPHENO:0050007", + "HP:0003026", + "UPHENO:0087501", + "UPHENO:0002594", + "UPHENO:0046465", + "UPHENO:0069047", + "UPHENO:0068838", + "UBERON:0003606", "UPHENO:0076718", - "UPHENO:0081451", + "UPHENO:0081313", + "UPHENO:0069064", + "UPHENO:0049757", + "UPHENO:0069125", + "HP:0009623", + "UBERON:0001015", + "UPHENO:0069062", + "UBERON:0010912", + "UPHENO:0046479", + "HP:0040072", + "UPHENO:0075944", + "HP:0004097", + "UPHENO:0046540", + "UBERON:0000477", + "UBERON:0010703", + "HP:0009826", + "UPHENO:0068912", + "UBERON:0000468", + "UBERON:0002389", "UPHENO:0087349", - "UBERON:0010741", - "UBERON:0003466", - "HP:0000925", - "HP:0009121", - "UPHENO:0022529", - "GO:0031326", - "UBERON:0002090", - "UPHENO:0002813", - "HP:0006433", - "UBERON:0000025", - "UPHENO:0076786", + "UPHENO:0046538", + "UPHENO:0046445", + "UBERON:0004122", + "UPHENO:0002595", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0063599", + "UPHENO:0046392", + "UPHENO:0074229", + "UPHENO:0002637", + "UPHENO:0002523", + "UPHENO:0053644", + "UPHENO:0046397", + "HP:0010946", + "UPHENO:0069327", + "UPHENO:0046707", + "UPHENO:0046403", + "HP:0006501", + "UPHENO:0075195", + "UPHENO:0002786", + "UPHENO:0076754", + "UPHENO:0069194", + "HP:0009824", + "UPHENO:0001002", + "UPHENO:0012308", + "GO:0040007", + "UPHENO:0069163", + "HP:0002813", "HP:0002818", - "HP:0002023", - "HP:0011793", - "UBERON:0001245", - "HP:0025033", - "HP:0006483", - "UBERON:0010912", - "UPHENO:0063565" + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0001147", + "UBERON:0034923", + "UBERON:0000064", + "UBERON:0000323", + "UPHENO:0002949", + "UBERON:0005181", + "UPHENO:0002649", + "UPHENO:0002531", + "UPHENO:0069328", + "HP:0000126", + "UPHENO:0076779", + "HP:0001197", + "UBERON:0001224", + "UPHENO:0084132", + "UPHENO:0001134", + "UBERON:0008785", + "UPHENO:0002668", + "UPHENO:3000001", + "MPATH:1000", + "UPHENO:0087427", + "HP:0034242", + "UBERON:0000922", + "UBERON:0010538", + "UPHENO:0001478", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0053572", + "UBERON:0004053", + "UBERON:0000473", + "UPHENO:0053563", + "UPHENO:0002597", + "UPHENO:0003055", + "UPHENO:0002682", + "UPHENO:0002685", + "UPHENO:0053566", + "UPHENO:0069266", + "UPHENO:0069674", + "HP:0000118", + "UPHENO:0002940", + "UBERON:0000079", + "UPHENO:0049620", + "UBERON:0000990", + "UPHENO:0063575", + "UBERON:0004176", + "UPHENO:0053561", + "HP:0012243", + "UBERON:0005156", + "HP:0000032", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009381", + "HP:0011927", + "UBERON:0012141", + "UPHENO:0046740", + "UBERON:0000991", + "UPHENO:0046750", + "UPHENO:0046426", + "UPHENO:0046741", + "UPHENO:0069236", + "UPHENO:0046411", + "UPHENO:0080369", + "UBERON:0014793", + "UPHENO:3000004", + "HP:0009603", + "UPHENO:0003093", + "HP:0009484", + "UPHENO:0084829", + "UPHENO:0005016", + "UBERON:0007100", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0004288", + "UPHENO:0002830", + "UPHENO:0046405", + "UBERON:0015228", + "UBERON:0015410", + "UPHENO:0050065", + "UBERON:0000915", + "UPHENO:0075949", + "MPATH:0", + "MPATH:603", + "UPHENO:0049874", + "GO:0010468", + "UPHENO:0012440", + "UPHENO:0000541", + "UPHENO:0080351" ], "has_phenotype_closure_label": [ - "Abnormality of the skin", - "abnormal skin of body morphology", - "Nevus", - "skin of body", - "integument", - "integumental system", - "spinal cord", - "Abnormal spinal cord morphology", - "Abnormal conus terminalis morphology", - "dorsum", - "programmed DNA elimination", - "abnormal metabolic process", - "negative regulation of biosynthetic process", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "abnormal cellular component organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal organelle organization", - "metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal cellular process", - "abnormal chromatin organization", - "Chromosome breakage", - "regulation of cellular process", - "negative regulation of biological process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "abnormal primary metabolic process", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "Chromosomal breakage induced by crosslinking agents", - "abnormal hematopoietic cell morphology", - "abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormal spinal cord morphology", - "Abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "Abnormal metencephalon morphology", - "segmental subdivision of nervous system", - "Cerebellar malformation", - "hindbrain", - "abnormally formed anatomical entity", - "cellular metabolic process", - "simple eye", - "abnormal integument", - "eyeball of camera-type eye", - "abnormal face morphology", - "Abnormality of skin morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "orbital region", - "decreased size of the anatomical entity in the independent continuant", - "Motor delay", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", - "Abnormality of the orbital region", - "abnormal hematopoietic system", - "abnormal cell", - "immune system", - "Abnormality of the immune system", - "non-connected functional system", - "Abnormality of blood and blood-forming tissues", - "hemolymphoid system", - "disconnected anatomical group", + "Opisthokonta", + "Anorectal anomaly", + "rectum morphology phenotype", + "Abnormal intestine morphology", + "Rectal atresia", + "closing of the organ part", + "intestine morphology phenotype", + "intestine atresia", + "anatomical system atresia", + "subdivision of digestive tract atresia", + "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype", + "rectum atresia", + "organism", + "digestive system element", + "internal anal region", + "cellular organisms", + "Abnormal gastrointestinal tract morphology", + "organ part atresia", + "intestine", + "terminal part of digestive tract", + "rectum", + "Eumetazoa", + "alimentary part of gastrointestinal system", + "alimentary part of gastrointestinal system atresia", + "anus", + "material anatomical entity atresia", + "closing of the anatomical structure", + "digestive system phenotype", + "digestive tract", + "closing of the anatomical conduit", + "anus morphology phenotype", + "Abnormality of the anus", + "Abnormal anus morphology", + "ectoderm-derived structure phenotype", + "orifice", + "anatomical entity atresia", + "anus phenotype", + "orifice phenotype", + "Abnormality of the gastrointestinal tract", + "Abnormal digestive system morphology", + "root", + "ectoderm-derived structure atresia", + "anatomical structure atresia", + "closing of the anatomical entity", + "Abnormality of the digestive system", + "closing of the ectoderm-derived structure", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "palmar/plantar part of autopod", + "anal region", + "muscle structure", + "large intestine", + "material anatomical entity", + "Abnormal skeletal muscle morphology", + "arm phenotype", + "thoracic cavity element", + "pectoral appendage musculature", + "musculature of upper limb", + "regulation of cellular metabolic process", + "subdivision of tube phenotype", + "musculature of limb phenotype", + "independent continuant", + "subdivision of skeletal system", + "entity", + "forelimb zeugopod bone morphology phenotype", + "autopod region morphology phenotype", + "absent organism subdivision in the multicellular organism", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "closing of the subdivision of digestive tract", + "negative regulation of biological process phenotype", "Abnormal cellular phenotype", - "abnormal skin of body", - "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", - "Anemia", - "camera-type eye", - "abnormal bone marrow cell", - "abnormal immune system", - "abnormal renal system morphology", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abdomen element", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "abnormal genitourinary system", - "abnormal anatomical entity topology in independent continuant", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "abdominal segment of trunk", - "abnormally localised anatomical entity in independent continuant", - "abdomen", - "Ectopic kidney", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "abnormal renal system", - "abnormally localised anatomical entity", - "Abnormality of the upper urinary tract", - "anatomical cavity", - "abnormal erythrocyte morphology", - "Abnormal number of permanent teeth", - "myeloid cell", - "aplastic secondary dentition", - "secondary dentition", - "calcareous tooth", - "dentition", - "abnormal mouth morphology", - "abnormally decreased number of calcareous tooth", - "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Abnormal oral morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the dentition", - "cellular component organization", - "abnormal number of anatomical enitites of type calcareous tooth", - "Agenesis of permanent teeth", - "abnormally decreased number of anatomical entity", - "subdivision of tube", - "Abnormality of the face", - "Abnormal number of teeth", - "subdivision of digestive tract", - "delayed biological_process", - "delayed growth", - "Growth delay", - "abnormally decreased number of anatomical entity in the independent continuant", - "growth", - "abnormal biological_process", + "negative regulation of gene expression phenotype", + "segment of autopod", + "reproductive system", + "muscle organ", + "musculature of pectoral complex", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "cell phenotype", "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", - "Abnormal localization of kidney", - "face", - "Growth abnormality", - "abnormal skull morphology", - "abnormal size of anatomical entity", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormality of the mouth", - "abnormal size of skull", - "regional part of brain", - "abnormal telencephalon morphology", - "Eumetazoa", - "Eukaryota", - "dorsal region element", - "Abnormality of skull size", - "abnormal head", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "tooth-like structure", - "Abnormality of head or neck", - "cranial skeletal system", - "Abnormality of the genitourinary system", - "forebrain", - "Decreased head circumference", - "visual system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "abnormal craniocervical region morphology", - "kidney", - "regional part of nervous system", - "multi-tissue structure", - "abnormal kidney morphology", - "main body axis", - "subdivision of organism along main body axis", - "abnormal forebrain morphology", - "macromolecule metabolic process", - "appendage girdle complex", - "abnormal cerebellum morphology", - "skeleton", - "abnormal manual digit morphology in the independent continuant", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "absent anatomical entity", - "brain ventricle", "cell", - "limb", "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "absent anatomical entity in the forelimb", - "abnormal arm", - "Tethered cord", - "excretory system", - "Abnormal curvature of the vertebral column", - "cellular process", - "Abnormal digit morphology", - "postcranial axial skeleton", + "skeletal element", + "regulation of macromolecule biosynthetic process phenotype", + "zeugopod", + "regulation of biosynthetic process phenotype", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "Abnormality of chromosome stability", + "negative regulation of macromolecule metabolic process phenotype", + "increased size of the renal pelvis", + "homeostatic process", + "appendage girdle complex", + "digit phenotype", + "musculature phenotype", "Abnormal finger morphology", - "appendicular skeletal system", - "eye", - "Opisthokonta", - "paired limb/fin segment", - "endochondral element", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "Abnormal axial skeleton morphology", - "Aplasia/hypoplasia of the extremities", - "agenesis of anatomical entity", - "digit", - "bone element", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "anatomical space", - "paired limb/fin", - "organ subunit", - "Cognitive impairment", - "digestive system", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "aplasia or hypoplasia of anatomical entity", - "abnormal digit morphology", - "limb segment", - "skeleton of manus", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "multicellular organism", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "organism subdivision", - "lateral structure", - "digestive tract", - "Abnormal cerebellum morphology", - "digit 1 plus metapodial segment", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "Neurodevelopmental delay", - "pectoral appendage", - "body proper", - "head", - "Abnormality of limb bone", - "Abnormality of the musculoskeletal system", - "cellular organisms", - "abnormal digit", - "bodily fluid", - "multi-limb segment region", - "abnormal limb bone morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "segmental subdivision of hindbrain", - "brain ventricle/choroid plexus", - "anatomical system", - "radius endochondral element", - "regulation of cellular biosynthetic process", - "biological regulation", - "Abnormality of globe size", - "Intellectual disability", - "abnormal digestive system morphology", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormality of the hand", - "nucleobase-containing compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", - "Abnormal cell morphology", - "phenotype", - "abnormal growth", - "independent continuant", - "aplastic manual digit 1", - "organic cyclic compound metabolic process", - "segment of autopod", - "organ", + "organ phenotype", + "decreased length of manual digit", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "dilated renal pelvis", + "negative regulation of biological process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", "occurrent", - "Abnormality of mental function", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormal cellular physiology", - "organic substance metabolic process", - "Pelvic kidney", - "abnormality of nervous system physiology", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "manual digit 1 plus metapodial segment", - "abnormal manus morphology", - "pectoral appendage skeleton", - "quality", - "Localized skin lesion", - "immaterial entity", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "endochondral bone phenotype", + "Metazoa", "Abnormal hand morphology", - "Abnormality of the eye", - "abnormal upper urinary tract", - "mouth", + "external soft tissue zone", + "skeletal system phenotype", + "digit plus metapodial segment", + "appendage", + "anatomical entity phenotype", + "decreased length of organ", + "localised testis", "musculoskeletal system", - "skeleton of pectoral complex", - "abnormal face", - "autopodial extension", - "negative regulation of gene expression", - "Phenotypic abnormality", - "subdivision of skeletal system", - "entity", - "bone of pectoral complex", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "Chiari type I malformation", - "Metazoa", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "protein-containing material entity", - "abnormal skeletal system morphology", - "segment of manus", - "organ part", - "forelimb endochondral element", - "multicellular anatomical structure", - "Scoliosis", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "organism", - "autopod region", - "digit 1", - "aplasia or hypoplasia of manual digit", - "Microphthalmia", - "abnormal skeletal system", - "anatomical structure", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "Chiari malformation", - "Abnormality of the head", - "anatomical conduit", - "biological_process", - "process", - "Delayed ability to walk", - "material entity", - "nervous system process", - "abnormal number of anatomical enitites of type secondary dentition", - "system process", - "anatomical collection", - "All", - "Abnormal cerebral ventricle morphology", - "Abnormal upper limb bone morphology", - "Abnormal hindbrain morphology", - "renal system", - "nervous system", - "abnormal nervous system", - "manual digit 1 or 5", - "Neoplasm", - "upper urinary tract", - "Anal atresia", - "decreased size of the anatomical entity", - "ventricular system of brain", - "cognition", - "tube", - "abnormal autopod region morphology", - "bone of free limb or fin", "Absent thumb", - "subdivision of trunk", - "absent manual digit", - "abnormal phenotype by ontology source", - "trunk region element", + "bone of free limb or fin", + "cavitated compound organ phenotype", + "aplastic anatomical entity", + "All", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "manual digit morphology in the manus phenotype", + "forelimb zeugopod morphology phenotype", + "Upper limb undergrowth", + "skeleton of pectoral complex", + "paired limb/fin segment", + "absent multicellular anatomical structure", + "decreased length of endochondral bone", + "Eukaryota", + "negative regulation of cellular metabolic process", + "abdomen element", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "forelimb endochondral element", + "Phenotypic abnormality", + "negative regulation of gene expression", + "regulation of metabolic process phenotype", + "Abnormality of the urinary system physiology", + "bone element phenotype", "pectoral complex", - "abnormal appendicular skeleton morphology", + "multi-limb segment region phenotype", + "regulation of macromolecule metabolic process", + "upper limb segment phenotype", + "endochondral element phenotype", + "manual digit 1 morphology phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "closing of the subdivision of tube", "skeleton of limb", - "material anatomical entity", - "digit plus metapodial segment", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "abnormal dentition", - "Abnormal nervous system physiology", - "abnormal forelimb morphology", - "Bone marrow hypocellularity", - "zeugopod", - "skeletal element", - "entire sense organ system", - "continuant", - "abnormal manual digit 1 morphology", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "aplastic anatomical entity", - "anterior region of body", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "musculature of manus", + "anatomical entity morphology in the pectoral complex phenotype", + "absent anatomical structure in the forelimb", + "aplasia or hypoplasia of manual digit 1", + "bone of pectoral complex phenotype", + "absent anatomical structure", + "orifice atresia", "appendicular skeleton", "upper limb segment", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "skeletal system", - "aplasia or hypoplasia of manual digit 1", - "bone marrow cell", - "system", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "Abnormal eye morphology", - "manual digit", - "Abnormal morphology of the radius", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Delayed gross motor development", - "subdivision of skeleton", - "endochondral bone", - "abnormally increased number of anatomical entity in the independent continuant", - "arm", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "mesoderm-derived structure", - "postcranial axial skeletal system", + "external soft tissue zone phenotype", + "limb phenotype", "paired limb/fin skeleton", - "Abnormal cerebrospinal fluid morphology", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "subdivision of digestive tract phenotype", + "limb bone", + "embryo phenotype", + "segment of manus", + "protein-containing material entity", + "manual digit plus metapodial segment", + "Anal atresia", "limb endochondral element", - "autopodial skeleton", - "Abnormal skeletal morphology", - "forelimb", + "agenesis of anatomical entity", + "thenar eminence hypoplasia", + "skeleton of manus", + "skeleton phenotype", + "palmar part of manus", + "Abnormal large intestine morphology", + "Aplasia/hypoplasia involving the skeleton", + "Abnormal limb bone morphology", + "absent digit", + "arm", + "trunk region element physiology phenotype", + "male reproductive organ phenotype", + "autopodial extension phenotype", + "manual digit", + "Abnormal cardiovascular system morphology", + "continuant", + "absent material anatomical entity in the forelimb", + "late embryo phenotype", + "regulation of cellular process phenotype", "forelimb zeugopod", - "genitourinary system", - "forelimb skeleton", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", + "Abnormal appendicular skeleton morphology", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "muscle organ morphology phenotype", + "autopod region phenotype", + "material anatomical entity phenotype", + "forelimb long bone phenotype", + "skeletal system", + "Hypoplasia of the radius", + "programmed DNA elimination by chromosome breakage phenotype", + "manus phenotype", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "regulation of metabolic process", + "autopodial extension", "manual digit 1", - "bone marrow", - "acropodium region", - "Abnormality of digestive system morphology", - "abnormal limb", + "Aplasia/hypoplasia involving bones of the extremities", + "mesoderm-derived structure phenotype", + "bone element", + "regulation of biological process", + "digit 1 phenotype", + "lateral structure", + "mesoderm-derived structure", + "Stage 5 chronic kidney disease", + "closing of the multicellular anatomical structure", + "organ system subdivision", + "thenar eminence phenotype", + "musculature", + "Abnormality of the thenar eminence", + "number of anatomical enitites of type organism subdivision phenotype", + "limb endochondral element phenotype", + "anatomical structure", + "paired limb/fin phenotype", + "absent multicellular anatomical structure in the multicellular organism", + "anatomical conduit phenotype", + "taxon specific phenotype", + "Abnormal rectum morphology", + "absent manual digit", + "Abnormal thumb morphology", + "subdivision of trunk", + "limb segment", + "forelimb morphology phenotype", + "musculature of limb", + "Abnormal cellular physiology", + "cardiovascular system", + "male reproductive system phenotype", + "aplastic manual digit 1", + "anatomical entity morphology in the manus phenotype", + "anatomical system", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "lower digestive tract", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "subdivision of digestive tract", + "regulation of cellular biosynthetic process phenotype", + "limb bone morphology phenotype", + "decreased size of the forelimb endochondral element", + "renal pelvis", + "forelimb", + "Abnormal skeletal morphology", + "pathological phenotype observation", + "decreased size of the anatomical entity in the pectoral complex", + "digit 1 or 5", + "autopodial skeleton", + "Aplasia/Hypoplasia of the thumb", + "system", + "regulation of gene expression phenotype", + "bone of appendage girdle complex phenotype", + "Abnormality of prenatal development or birth", + "trunk region element", + "decreased size of the manual digit", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "paired limb/fin segment phenotype", + "ectoderm-derived structure", + "decreased length of limb bone", + "Abnormal digit morphology", + "negative regulation of cellular process", + "forelimb skeleton", + "genitourinary system", + "renal pelvis phenotype", + "anatomical entity", + "phenotypic effect", + "size of anatomical entity phenotype", + "Proximal placement of thumb", + "alimentary part of gastrointestinal system phenotype", + "pectoral appendage skeleton", + "forelimb endochondral element phenotype", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "biological regulation", + "abdominal segment of trunk", "manus", - "cerebrospinal fluid", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Finger aplasia", - "Abnormal appendicular skeleton morphology", - "cerebellum", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal closing of the anatomical entity", + "thenar eminence", + "Abnormality of limbs", + "regulation of gene expression", + "pectoral appendage", + "Abnormality of the musculoskeletal system", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ", + "multicellular organism morphology phenotype", + "absent multicellular anatomical structure in the limb", + "Abnormality of the musculature of the limbs", + "anatomical structure physiology phenotype", + "digit morphology phenotype", + "aplasia or hypoplasia of skeleton", + "anatomical conduit atresia", + "Deviation of finger", + "Abnormality of the skeletal system", + "Abnormality of limb bone", + "homeostatic process phenotype", + "Abnormal renal pelvis morphology", + "Aplasia/hypoplasia of the extremities", + "Short stature", + "digit 1", + "aplasia or hypoplasia of manual digit", + "Abnormality of the musculature", + "number of anatomical enitites of type material anatomical entity phenotype", + "thoracic segment of trunk", + "limb bone phenotype", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "absent organism subdivision", + "autopod region", + "decreased length of bone of pectoral complex", + "skeleton", + "anatomical collection phenotype", + "quality", + "absent anatomical structure in the limb", + "decreased length of mesoderm-derived structure", + "negative regulation of macromolecule metabolic process", + "abdominal segment element", + "organ physiology phenotype", + "absent anatomical entity in the multicellular organism", + "decreased length of endochondral element", + "absent anatomical structure in the multicellular organism", + "subdivision of organism along appendicular axis", + "Deviation of the thumb", + "regulation of biosynthetic process", "bone of appendage girdle complex", - "anatomical wall", - "organ component layer", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Tooth agenesis", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", + "absent anatomical entity", + "process", + "Abnormality of metabolism/homeostasis", + "limb morphology phenotype", + "biological regulation phenotype", + "intestine phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "external male genitalia", + "organism subdivision", + "limb segment phenotype", + "digit 1 or 5 phenotype", + "digestive system", + "anatomical entity morphology phenotype", + "obsolete cell", + "decreased length of long bone", + "programmed DNA elimination", + "spatial pattern of anatomical entity phenotype", + "subdivision of tube atresia", + "multi-limb segment region", + "digit", + "anatomical entity length phenotype", + "abdominal segment element phenotype", + "Finger aplasia", + "manual digit phenotype", + "musculature of pectoral complex phenotype", + "decreased length of anatomical structure", + "musculature of manus phenotype", + "trunk", + "Abnormality of the musculature of the hand", + "appendage musculature", + "manus morphology phenotype", + "musculature of upper limb phenotype", + "Abnormality of the musculature of the upper limbs", + "compound organ physiology phenotype", + "Small thenar eminence", + "abdomen element physiology phenotype", + "pectoral appendage musculature phenotype", + "digit 1 plus metapodial segment", + "Abnormal renal physiology", + "Intestinal atresia", "arm bone", - "Hydrocephalus", - "malformed anatomical entity", - "Morphological central nervous system abnormality", - "cavitated compound organ", - "abnormal brain morphology", - "organism substance", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "abnormally increased number of anatomical entity", + "kidney physiology phenotype", + "radius endochondral element", + "anatomical system physiology phenotype", + "abdominal segment element physiology phenotype", + "localised anatomical structure", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "cavitated compound organ physiology phenotype", + "decreased size of the organ", + "decreased size of the endochondral bone", + "Chronic kidney disease", + "renal system phenotype", + "multicellular anatomical structure physiology phenotype", + "body proper", + "regulation of biological process phenotype", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "anatomical system phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", + "male organism", + "renal system physiology phenotype", + "multicellular anatomical structure phenotype", + "Renal insufficiency", + "Abnormality of the kidney", + "material anatomical entity physiology phenotype", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "multicellular anatomical structure atresia", + "excretory system", + "decreased size of the forelimb zeugopod bone", + "long bone morphology phenotype", + "absent autopodial extension", + "Fetal ultrasound soft marker", + "closing of the material anatomical entity", + "circulatory system", + "subdivision of organism along main body axis", + "main body axis", + "localised multicellular anatomical structure", + "lateral structure physiology phenotype", + "renal system", + "digestive system morphology phenotype", "Abnormality of the urinary system", - "transudate", + "renal/urinary system phenotype", + "anatomical entity hypoplasia", "forelimb bone", - "ventricle of nervous system", - "skull", - "abnormal cerebrospinal fluid morphology", - "abnormal brain ventricle morphology", - "central nervous system", - "ventricular system of central nervous system", - "abnormal anus", - "abnormally formed anatomical entity in independent continuant", - "oral cavity", - "dysgenesis of the radius bone", - "subdivision of head", - "Abnormality of brain morphology", - "forelimb zeugopod bone", - "metencephalon", - "abnormal digestive system", - "abnormal DNA metabolic process", - "blood cell", - "abnormal manual digit morphology in the manus", - "radius bone", + "upper urinary tract phenotype", + "decreased length of digit 1 or 5", + "decreased length of forelimb bone", + "decreased length of bone element", + "limb long bone morphology phenotype", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "Forearm undergrowth", + "decreased size of the anatomical entity", "forelimb long bone", - "abnormal anatomical entity", "Abnormal forearm morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "abnormal radius bone morphology", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", + "testis phenotype", + "negative regulation of biosynthetic process", + "material entity", "long bone", - "axial skeletal system", - "obsolete cell", - "compound organ", - "dysgenesis of the anatomical entity", - "zeugopodial skeleton", - "limb long bone", - "Radial dysplasia", - "appendage", - "root", + "structure with developmental contribution from neural crest", + "Abnormality of the hand", + "radius bone", + "heart", + "Limb undergrowth", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "decreased length of skeletal element", + "decreased size of the material anatomical entity", + "decreased size of the long bone", + "forelimb zeugopod bone hypoplasia", + "decreased size of the bone of pectoral complex", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Hydronephrosis", + "decreased length of organism subdivision", + "decreased size of the mesoderm-derived structure", + "decreased length of bone of free limb or fin", + "Abnormal testis morphology", + "cardiovascular system phenotype", + "decreased size of the bone of free limb or fin", + "specifically dependent continuant", + "decreased length of arm bone", + "decreased size of the limb bone", + "multi-tissue structure", + "limb long bone phenotype", + "forelimb zeugopod bone", + "decreased length of manual digit 1 or 5", + "decreased length of multicellular anatomical structure", + "kidney", + "Growth delay", + "radius bone phenotype", + "decreased length of digit 1", + "alimentary part of gastrointestinal system morphology phenotype", + "decreased length of forelimb zeugopod bone", + "acropodium region", + "decreased size of the limb endochondral element", + "appendage musculature phenotype", + "forelimb bone phenotype", + "decreased length of limb endochondral element", + "Short forearm", + "delayed biological_process", + "decreased length of material anatomical entity", + "Abnormal upper limb bone morphology", + "closing of the anatomical system", + "decreased size of the arm bone", + "decreased size of the bone of appendage girdle complex", + "Abnormal forearm bone morphology", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased size of the bone element", + "absent anatomical entity in the limb", "Abnormal long bone morphology", - "Abnormal bone structure", - "abnormal vertebral column", - "abnormal postcranial axial skeleton morphology", - "abnormal oral cavity morphology", - "telencephalon", - "vertebral column", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "trunk", - "Abnormality of the vertebral column", - "protein-DNA complex organization", - "Abnormal anus morphology", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "erythrocyte", - "organ system subdivision", - "Abnormality of the anus", - "DNA metabolic process", - "orifice", - "anus", - "immaterial anatomical entity", + "bone of pectoral complex morphology phenotype", + "negative regulation of metabolic process phenotype", + "Short finger", + "organ", + "decreased size of the anatomical structure", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased size of the endochondral element", + "decreased length of forelimb endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "long bone phenotype", + "forelimb zeugopod bone phenotype", + "aplasia or hypoplasia of radius bone", + "increased size of the anatomical structure", + "primary circulatory organ", + "localised organ", + "thoracic segment organ", + "renal pelvis/ureter", + "phenotype", + "Fetal pyelectasis", + "embryonic development/birth phenotype", + "Abnormal fetal genitourinary system morphology", + "organ part", + "external genitalia phenotype", + "multicellular organism phenotype", + "decreased length of autopodial extension", + "organ part phenotype", + "Abnormal renal morphology", + "increased size of the organ part", + "Fetal anomaly", + "renal pelvis morphology phenotype", + "anatomical cluster", + "manual digitopodium region", + "Abnormality of the male genitalia", + "upper urinary tract", + "decreased length of digit", + "anatomical conduit", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Dilatation of the renal pelvis", + "Gastrointestinal atresia", + "late embryo", + "limb", + "increased size of the anatomical entity", + "increased size of the material anatomical entity", + "biological_process", + "genitourinary system phenotype", + "dilated anatomical entity", + "embryo", + "increased size of the anatomical conduit", "anus atresia", - "aplasia or hypoplasia of telencephalon", - "abnormal long bone morphology", - "craniocervical region" + "Short long bone", + "reproductive organ", + "Abnormal fetal morphology", + "increased size of the multicellular anatomical structure", + "decreased length of bone of appendage girdle complex", + "Abnormal male external genitalia morphology", + "Abnormality of the genital system", + "testis", + "large intestine morphology phenotype", + "localised reproductive structure", + "reproductive system phenotype", + "Cryptorchidism", + "heart plus pericardium", + "subdivision of tube", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "reproductive structure phenotype", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "external genitalia", + "disconnected anatomical group", + "male reproductive organ", + "gonad phenotype", + "reproductive structure", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "external male genitalia phenotype", + "decreased size of the organism subdivision", + "anterior region of body", + "decreased length of manual digit 1", + "rectum phenotype", + "paired limb/fin", + "decreased size of the digit", + "Short thumb", + "Short digit", + "decreased size of the forelimb bone", + "deviation of manual digit 1", + "Abnormal morphology of the radius", + "Deviation of the hand or of fingers of the hand", + "deviation of manual digit", + "Growth abnormality", + "cardiovascular system morphology phenotype", + "decreased size of the skeletal element", + "reproductive organ phenotype", + "viscus", + "circulatory organ", + "heart morphology phenotype", + "Abnormal heart morphology", + "Renal cyst", + "External genital hypoplasia", + "tube", + "Abnormality of body height", + "size of multicellular organism phenotype", + "arm bone phenotype", + "delayed growth", + "number of anatomical enitites of type anatomical structure phenotype", + "decreased size of the multicellular organism", + "regulation of cellular process", + "decreased height of the anatomical entity", + "growth phenotype", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth" ], - "has_phenotype_count": 18, + "has_phenotype_count": 15, "highlight": null, "score": null }, { - "id": "MONDO:0014987", + "id": "MONDO:0010953", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group U", + "name": "Fanconi anemia complementation group E", "full_name": null, "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", - "xref": ["DOID:0111085", "GARD:16215", "OMIM:617247", "UMLS:C4310651"], + "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", + "xref": [ + "DOID:0111084", + "GARD:15324", + "MEDGEN:463628", + "NCIT:C125709", + "OMIM:600901", + "UMLS:C3160739" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCU", - "Fanconi Anemia, complementation group U", - "Fanconi Anemia, complementation group type U", - "Fanconi anaemia caused by mutation in XRCC2", - "Fanconi anaemia complementation group type U", - "Fanconi anemia caused by mutation in XRCC2", - "Fanconi anemia complementation group type U", - "Fanconi anemia, complementation GROUP U", - "XRCC2 Fanconi anaemia", - "XRCC2 Fanconi anemia" + "FANCE", + "FANCE Fanconi anaemia", + "FANCE Fanconi anemia", + "Fanconi Anemia, complementation group type E", + "Fanconi anaemia caused by mutation in FANCE", + "Fanconi anaemia complementation group type E", + "Fanconi anemia caused by mutation in FANCE", + "Fanconi anemia complementation group E", + "Fanconi anemia complementation group type E", + "Fanconi anemia, complementation group E", + "face" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0000086", - "HP:0002984", + "HP:0001875", "HP:0009777", + "HP:0001249", + "HP:0000086", "HP:0000252", + "HP:0000815", + "HP:0000104", + "HP:0001017", + "HP:0001876", + "HP:0000028", + "HP:0003974", + "HP:0001873", + "HP:0009778", + "HP:0001896", + "HP:0000568", + "HP:0001518", + "HP:0001263", + "HP:0003221", + "HP:0009943", + "HP:0000978", + "HP:0001627", + "HP:0000953", + "HP:0000957", + "HP:0001903", + "HP:0001909", + "HP:0000081", + "HP:0004322", + "HP:0000486", + "HP:0000365", + "HP:0003214", + "HP:0003213", + "HP:0000085" + ], + "has_phenotype_label": [ + "Neutropenia", + "Absent thumb", + "Intellectual disability", + "Ectopic kidney", + "Microcephaly", + "Hypergonadotropic hypogonadism", + "Renal agenesis", + "Anemic pallor", + "Pancytopenia", + "Cryptorchidism", + "Absent radius", + "Thrombocytopenia", + "Short thumb", + "Reticulocytopenia", + "Microphthalmia", + "Small for gestational age", + "Global developmental delay", + "Chromosomal breakage induced by crosslinking agents", + "Complete duplication of thumb phalanx", + "Bruising susceptibility", + "Abnormal heart morphology", + "Hyperpigmentation of the skin", + "Cafe-au-lait spot", + "Anemia", + "Leukemia", + "Duplicated collecting system", + "Short stature", + "Strabismus", + "Hearing impairment", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Horseshoe kidney" + ], + "has_phenotype_closure": [ + "UPHENO:0041226", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0051124", + "GO:0046483", + "UPHENO:0050116", + "UPHENO:0049586", + "UPHENO:0049964", + "GO:0044238", + "GO:0006950", + "GO:0051716", + "HP:0003213", + "UPHENO:0050121", + "GO:0051319", + "GO:0007049", + "HP:0003214", + "UPHENO:0052160", 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"UPHENO:0009341", + "UPHENO:0079872", + "UBERON:0004535", + "HP:0009142", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0013702", + "UPHENO:0080187", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "HP:0040070", + "GO:0006725", + "UPHENO:0087501", + "HP:0004377", + "UPHENO:0008709", + "UPHENO:0002594", + "UPHENO:0086019", + "UPHENO:0026312" ], "has_phenotype_closure_label": [ - "radiale", - "carpal region", - "absent carpal bone in the independent continuant", - "aplasia or hypoplasia of carpal bone", - "Abnormality of upper limb joint", - "abnormal radiale", - "Carpal bone aplasia", - "carpus endochondral element", - "absent radiale", - "skeletal joint", - "Abnormality of the wrist", - "abnormal carpal region", - "Abnormal carpal morphology", - "mesopodial skeleton", - "proximal mesopodial bone", - "Abnormality of the scaphoid", - "carpal skeleton", - "Aplasia/Hypoplasia involving the carpal bones", - "multi organ part structure", - "Absent scaphoid", - "proximal carpal bone", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal proximal phalanx of manus morphology", - "abnormal metacarpal bone of digit 1 morphology", - "absent metacarpal bone in the independent continuant", - "skeleton of manus", - "abnormal manus morphology", - "pectoral appendage skeleton", - "aplastic anatomical entity", - "anterior region of body", - "Aplasia/Hypoplasia of the phalanges of the hand", - "cardiovascular system", - "digit plus metapodial segment", - "aplastic metacarpal bone of digit 1", - "organism", - "abnormal carpal bone", - "digit 1", - "Forearm undergrowth", + "3-D shape anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", + "response to stress", + "Abnormality of DNA repair", + "response to stimulus", + "DNA repair", + "DNA damage response phenotype", + "nucleobase-containing compound metabolic process phenotype", + "organic cyclic compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "metabolic process phenotype", + "macromolecule metabolic process phenotype", + "cell cycle phase", + "Abnormality of the cell cycle", + "interphase", + "ear", + "sensory perception", + "decreased sensory perception", + "decreased nervous system process", + "decreased qualitatively multicellular organismal process", + "system process phenotype", + "sensory perception of sound phenotype", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", + "sensory perception of sound", + "decreased qualitatively system process", + "decreased qualitatively sensory perception of sound", + "sensory perception phenotype", + "ear physiology phenotype", + "decreased qualitatively sensory perception", + "decreased qualitatively nervous system process", + "decreased system process", + "Hearing impairment", + "sense organ physiology phenotype", + "nucleic acid metabolic process phenotype", + "lateral structure physiology phenotype", + "immaterial anatomical entity", + "eye movement", + "Strabismus", + "body part movement", + "multicellular organismal process phenotype", + "anatomical line", + "behavior", + "decreased qualitatively sensory perception of mechanical stimulus", + "eye physiology phenotype", + "concave 3-D shape anatomical entity", + "Abnormality of eye movement", + "Atypical behavior", + "camera-type eye physiology phenotype", + "anatomical entity height phenotype", + "decreased height of the multicellular organism", + "multicellular organism height phenotype", + "Short stature", + "size of multicellular organism phenotype", + "delayed biological_process", + "Abnormality of body height", + "Abnormal renal collecting system morphology", + "macromolecule metabolic process", + "Duplicated collecting system", + "Neoplasm", + "Leukemia", + "neoplasm phenotype", + "Localized skin lesion", + "Cafe-au-lait spot", + "Macule", + "biological_process rate phenotype", + "increased qualitatively biological_process", + "Hyperpigmentation of the skin", + "Abnormal heart morphology", + "Abnormal cardiovascular system morphology", + "heart morphology phenotype", + "circulatory organ", + "heart plus pericardium", + "thoracic cavity element", + "vascular system", + "Abnormality of the vasculature", + "Abnormality of the cardiovascular system", + "anatomical cluster phenotype", + "Generalized abnormality of skin", + "Vascular skin abnormality", + "vasculature", + "pigmentation", + "Abnormal finger phalanx morphology", + "Duplication of thumb phalanx", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", + "manual digit bone", + "eye movement phenotype", + "manual digit digitopodial skeleton", + "phalanx endochondral element", + "phalanx", + "skeleton of manual acropodium", + "digitopodium bone", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "pigmentation phenotype", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "regulation of cellular biosynthetic process", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "negative regulation of biological process phenotype", + "homeostatic process", + "regulation of cellular process phenotype", + "regulation of biological process", + "programmed DNA elimination by chromosome breakage", + "negative regulation of gene expression", + "cellular response to stimulus", + "Chromosomal breakage induced by crosslinking agents", + "negative regulation of macromolecule biosynthetic process", + "regulation of cellular metabolic process phenotype", + "negative regulation of cellular process phenotype", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "regulation of cellular biosynthetic process phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "Neurodevelopmental delay", + "multicellular organism mass phenotype", + "material anatomical entity mass phenotype", + "decreased anatomical structure mass", + "decreased material anatomical entity mass", + "Decreased multicellular organism mass", + "camera-type eye", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "entire sense organ system", + "Abnormality of the orbital region", + "camera-type eye morphology phenotype", + "Abnormality of the eye", + "face phenotype", + "orbital region", + "sense organ", + "Microphthalmia", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "size of eyeball of camera-type eye phenotype", + "simple eye", + "sensory system", + "face morphology phenotype", + "Abnormal eye morphology", + "orbital region phenotype", + "number of anatomical enitites of type reticulocyte phenotype", + "decreased number of reticulocyte", + "enucleated reticulocyte", + "reticulocyte", + "enucleated reticulocyte morphology phenotype", + "decreased length of digit 1", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased length of autopodial extension", + "decreased size of the material anatomical entity", + "Short thumb", + "decreased length of multicellular anatomical structure", + "decreased length of manual digit", + "decreased length of anatomical structure", + "decreased length of material anatomical entity", + "decreased size of the organism subdivision", "decreased size of the anatomical entity", - "Abnormal appendicular skeleton morphology", - "abnormal size of anatomical entity", - "limb long bone", - "zeugopodial skeleton", - "peripheral nervous system", - "paired limb/fin skeleton", - "endochondral bone", - "subdivision of skeleton", + "decreased length of organism subdivision", + "negative regulation of metabolic process phenotype", + "Short finger", + "biological_process phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "aplasia or hypoplasia of radius bone", + "forelimb zeugopod bone phenotype", + "decreased multicellular anatomical structure mass", + "Absent radius", + "absent forelimb zeugopod bone", + "U-shaped anatomical entity", + "long bone phenotype", + "Aplasia/hypoplasia involving forearm bones", + "absent bone element in the limb", + "forelimb zeugopod morphology phenotype", + "absent bone of pectoral complex in the forelimb", + "absent long bone", + "bone of pectoral complex morphology phenotype", + "absent forelimb endochondral element in the limb", + "Abnormal forearm bone morphology", + "absent radius bone in the forelimb", + "bone of pectoral complex phenotype", + "limb long bone morphology phenotype", + "absent endochondral bone in the forelimb", + "absent limb endochondral element in the limb", + "delayed growth", + "arm bone phenotype", + "simple eye physiology phenotype", + "absent organ in the forelimb", + "cellular process", + "long bone morphology phenotype", + "absent endochondral element", + "absent organ in the limb", "Aplasia/Hypoplasia of the radius", - "system", - "Aplasia involving bones of the upper limbs", - "abnormal anatomical entity", - "Upper limb undergrowth", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the proximal phalanges of the hand", - "mesopodium bone", - "bone of free limb or fin", - "abnormal autopod region morphology", - "proximal mesopodial endochondral element", + "vestibulo-auditory system", + "absent limb endochondral element", + "absent limb bone", + "forelimb bone phenotype", + "absent bone of free limb or fin in the limb", + "Absent forearm bone", + "decreased size of the organ", + "absent forelimb bone", + "absent bone element", + "Abnormal morphology of the radius", + "Reticulocytopenia", + "absent forelimb bone in the limb", + "absent endochondral element in the forelimb", + "number of anatomical enitites of type bone element phenotype", + "forelimb long bone phenotype", + "nervous system process phenotype", + "thoracic segment organ", + "absent forelimb long bone", + "increased biological_process", + "absent bone of free limb or fin", + "radius bone phenotype", + "absent bone of free limb or fin in the forelimb", + "regulation of biosynthetic process phenotype", + "zeugopod", + "decreased length of anatomical entity", + "bone of pectoral complex", + "nervous system physiology phenotype", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "pathological phenotype observation", + "decreased size of the anatomical entity in the pectoral complex", + "decreased functionality of the gonad", + "decreased sensory perception of sound", + "anatomical system physiology phenotype", + "subdivision of head", + "absent mesoderm-derived structure in the forelimb", + "appendage girdle complex", + "digit phenotype", + "Renal hypoplasia/aplasia", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Hypermelanotic macule", + "absent kidney in the renal system", + "Abnormality of metabolism/homeostasis", + "biological regulation phenotype", + "limb morphology phenotype", + "kinesthetic behavior", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "Duplication of hand bones", + "nervous system process", + "skeletal element phenotype", + "appendicular skeleton morphology phenotype", + "decreased size of the anatomical structure", + "organ", + "occurrent", + "subdivision of skeleton", + "endochondral bone", + "structure with developmental contribution from neural crest physiology phenotype", + "subdivision of skeletal system", + "entity", + "manual digit 1 phalanx endochondral element", + "tissue", + "forelimb zeugopod bone morphology phenotype", + "behavior process", + "absent material anatomical entity in the limb", + "Abnormal external genitalia", + "acropodial skeleton", + "autopod region morphology phenotype", + "appendage", + "anatomical entity phenotype", + "decreased multicellular organismal process", + "root", + "localised testis", "Absent thumb", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "limb", + "bone of free limb or fin", + "cavitated compound organ phenotype", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "cardiovascular system", + "absent skeletal element", + "manual digit morphology in the manus phenotype", + "localised cavitated compound organ", + "appendicular skeletal system", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "endochondral element", + "absent material anatomical entity in the multicellular organism", + "number of anatomical enitites of type endochondral bone phenotype", + "upper limb segment phenotype", + "endochondral element phenotype", + "organism subdivision phenotype", + "appendage phenotype", + "protein-containing material entity", + "segment of manus", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "multi-limb segment region", + "manual digit plus metapodial segment", + "digit 1 plus metapodial segment", + "anatomical entity length phenotype", + "digit", + "digit 1 or 5 phenotype", + "Abnormal digit morphology", + "Aplasia/hypoplasia involving bones of the hand", + "absent material anatomical entity", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", "Abnormality of the upper limb", + "limb", "cell", + "absent anatomical entity in the renal system", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "absent skeletal element in the forelimb", + "absent bone of appendage girdle complex in the forelimb", + "pectoral appendage", + "absent organism subdivision", + "Neurodevelopmental abnormality", + "manus phenotype", + "head", + "absent multicellular anatomical structure in the multicellular organism", + "axial skeleton plus cranial skeleton", + "Abnormal hand morphology", + "Metazoa", + "absent mesoderm-derived structure", + "Aplasia/hypoplasia involving bones of the extremities", + "Aplasia/Hypoplasia of fingers", + "localised material anatomical entity", + "digitopodium region", + "skeleton of manus", + "skeleton of limb", + "Aplasia involving forearm bones", + "autopodial extension phenotype", + "regulation of macromolecule metabolic process phenotype", + "anatomical collection", + "G2 phase", + "nervous system phenotype", + "All", + "Aplasia involving bones of the extremities", + "absent bone of pectoral complex", + "absent forelimb endochondral element in the forelimb", + "paired limb/fin segment phenotype", + "absent anatomical structure in the forelimb", + "acropodium region", + "Intellectual disability", + "bone marrow", + "Abnormality of the ear", + "absent multicellular anatomical structure", + "erythrocyte morphology phenotype", + "paired limb/fin segment", + "Opisthokonta", + "Duplication of bones involving the upper extremities", + "localised abdominal segment element", + "genitourinary system", + "decreased size of the digit", + "paired limb/fin", + "skeleton phenotype", + "absent forelimb endochondral element", + "limb phenotype", + "paired limb/fin skeleton", + "arm phenotype", + "hematopoietic system", + "agenesis of anatomical entity", + "nucleobase-containing compound metabolic process", + "manus morphology phenotype", + "increased pigmentation", + "material anatomical entity phenotype", + "absent kidney", + "digit 1 phenotype", + "bone of appendage girdle complex", + "arm", + "multicellular anatomical structure mass phenotype", + "male reproductive organ phenotype", + "manual digit", + "limb bone morphology phenotype", + "Abnormal skeletal morphology", + "anatomical system", + "absent anatomical structure in the limb", + "Abnormality of thumb phalanx", + "decreased number of leukocyte", + "decreased size of the sense organ", + "anatomical collection phenotype", + "quality", + "decreased number of platelet", + "Aplasia/hypoplasia of the extremities", + "decreased number of anatomical entity", + "Abnormal cellular phenotype", + "abdominal segment element", + "decreased number of neutrophil", + "renal collecting system phenotype", + "musculature", + "regional part of brain", + "Abnormality of limbs", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "skeletal element", + "taxon specific phenotype", + "granulocyte morphology phenotype", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "cell phenotype", + "obsolete cell", + "programmed DNA elimination", + "anatomical entity morphology phenotype", + "Abnormal localization of kidney", + "size of skull phenotype", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of metabolic process phenotype", + "leukocyte morphology phenotype", + "circulatory system", + "bone marrow cell", + "Pancytopenia", + "subdivision of organism along appendicular axis phenotype", + "eye phenotype", + "Abnormal cellular immune system morphology", + "absent multicellular anatomical structure in the limb", + "endocrine system phenotype", + "multicellular organism morphology phenotype", + "skeletal system", + "cavitated compound organ", + "Abnormal leukocyte count", + "number of anatomical enitites of type neutrophil phenotype", + "Abnormal myeloid cell morphology", + "U-shaped kidney", + "digit 1 or 5", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "subdivision of skeletal system phenotype", + "Abnormal reticulocyte morphology", + "number of hematopoietic cell phenotype", + "postcranial axial skeleton", + "absent radius endochondral element", + "skeleton", + "Abnormal bleeding", + "immune system phenotype", + "decreased functionality of the organ", + "aplasia or hypoplasia of manual digit 1", + "reproductive system physiology phenotype", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "ear phenotype", + "anatomical entity", + "absent autopodial extension", + "hematopoietic system phenotype", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Abnormal immune system morphology", + "number of platelet phenotype", + "external genitalia", + "skeleton of pectoral complex", + "eukaryotic cell", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "arm bone", + "Abnormal myeloid leukocyte morphology", + "absent forelimb zeugopod bone in the forelimb", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "structure with developmental contribution from neural crest phenotype", + "manual digit 1 morphology phenotype", + "absent long bone in the forelimb", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "immune system", + "organ system subdivision", + "erythrocyte", + "decreased number of cell", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "Abnormality of skin pigmentation", + "phenotypic effect", + "size of anatomical entity phenotype", + "absent anatomical entity in the multicellular organism", + "organ physiology phenotype", + "Abnormal cell morphology", + "phenotype", "limb endochondral element", - "Short forearm", - "delayed biological_process", - "Aplasia/hypoplasia involving bones of the hand", - "bone element hypoplasia in independent continuant", - "Unilateral facial palsy", - "paired limb/fin segment", - "multi-limb segment region", - "endochondral element", + "digit plus metapodial segment", + "skeletal system phenotype", + "absent anatomical entity", + "Bruising susceptibility", + "absent compound organ in the renal system", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "bone of appendage girdle complex phenotype", + "number of anatomical enitites of type lateral structure phenotype", + "shape kidney", + "ectoderm-derived structure physiology phenotype", + "negative regulation of metabolic process", + "nervous system morphology phenotype", + "manual digit 1 or 5", + "myeloid leukocyte", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "manual digitopodium bone", + "localised lateral structure", + "vision/eye phenotype", + "absent multicellular anatomical structure in the skeletal system", + "organism subdivision", + "cell cycle phenotype", + "regional part of brain phenotype", + "number of anatomical enitites of type anatomical entity phenotype", + "neutrophil phenotype", + "external male genitalia", + "aplasia or hypoplasia of skeleton", + "cellular response to stress phenotype", + "craniocervical region morphology phenotype", + "localised multicellular anatomical structure", + "main body axis", + "decreased functionality of the reproductive organ", + "non-connected functional system", + "absent bone of appendage girdle complex in the limb", + "number of cell phenotype", + "number of leukocyte phenotype", + "platelet", + "decreased length of digit 1 or 5", + "hematopoietic cell", + "Abnormal limb bone morphology", + "absent digit", + "musculoskeletal system", + "absent material anatomical entity in the forelimb", + "manual digit phenotype", + "anatomical system phenotype", + "musculature phenotype", + "number of myeloid cell phenotype", + "DNA metabolic process phenotype", + "multi-limb segment region phenotype", + "hemolymphoid system", + "decreased number of material anatomical entity", + "absent mesoderm-derived structure in the limb", + "autopod region phenotype", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "anatomical structure mass phenotype", + "multicellular organism", + "decreased functionality of the anatomical structure", + "Thrombocytopenia", + "leukocyte", + "increased biological_process in skin of body", + "decreased size of the multicellular anatomical structure", + "localised anatomical entity", + "number of anatomical enitites of type compound organ phenotype", + "cellular response to stimulus phenotype", + "absent bone element in the forelimb", + "Abnormal appendicular skeleton morphology", + "anatomical structure physiology phenotype", "bone element", - "pectoral complex", - "trunk region element", - "skeletal system", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "Limb undergrowth", - "abnormal upper urinary tract", - "paired limb/fin", - "metacarpus region", - "Hypoplasia of the radius", - "anatomical collection", - "All", - "Aplasia involving bones of the extremities", - "decreased size of the anatomical entity in the independent continuant", - "forelimb zeugopod bone hypoplasia", - "Abnormal skeletal morphology", - "arm bone", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "obsolete cellular aromatic compound metabolic process", - "abnormal facial muscle", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "blood vessel", - "outflow tract", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "limb segment", - "craniocervical region", - "aplasia or hypoplasia of manual digit 1 phalanx", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "skeleton of limb", - "Aplasia involving forearm bones", - "Aplasia/Hypoplasia of fingers", + "mesoderm-derived structure phenotype", + "decreased number of hematopoietic cell", + "absent anatomical entity in the forelimb", + "multicellular anatomical structure", "primary metabolic process", + "Abnormality of the skin", "forelimb endochondral element", - "abnormal limb bone morphology", - "radius endochondral element", - "regulation of cellular metabolic process", - "individual digit of digitopodial skeleton", - "manus", - "head", - "Abnormal forearm bone morphology", + "Abnormality of globe size", + "bone element phenotype", + "cell cycle", + "pectoral complex", + "decreased size of the manual digit", + "trunk region element", + "absent limb long bone in the forelimb", + "Anemic pallor", + "cellular metabolic process", + "superficial fascia", + "Abnormality of neutrophils", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", "digit 1 digitopodial skeleton", - "Abnormality of the skeletal system", - "facial nerve", - "Aplasia/hypoplasia involving bones of the extremities", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "protein-containing material entity", - "proximal carpal endochondral element", - "abnormal skeletal system morphology", - "segment of manus", - "abnormal anatomical entity morphology in the pectoral complex", - "Aplasia/hypoplasia of the extremities", - "forelimb bone", - "anatomical entity hypoplasia", - "skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "regulation of biosynthetic process", - "nucleic acid metabolic process", + "decreased number of myeloid cell", + "decreased size of the autopodial extension", + "absent bone of pectoral complex in the limb", "process", - "Congenital malformation of the great arteries", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "acropodial skeleton", - "Abnormal muscle physiology", - "musculoskeletal system", - "abnormal cellular metabolic process", - "absent radius bone", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "subdivision of skeletal system", - "entity", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "absent anatomical entity in the metacarpus region", - "material anatomical entity", - "muscle structure", - "chromatin organization", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "carpal bone", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal manus", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "arm", - "protein-DNA complex organization", - "abnormal systemic artery morphology", - "appendicular skeletal system", - "abdomen element", - "postcranial axial skeletal system", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "quality", - "forelimb zeugopod skeleton", - "regulation of cellular biosynthetic process", - "Abnormality of the genitourinary system", - "forebrain", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "limb bone", - "Aplasia of the proximal phalanges of the hand", - "abnormality of nervous system physiology", - "regional part of nervous system", - "abnormal cellular process", - "forelimb skeleton", - "genitourinary system", - "abnormal limb", - "negative regulation of cellular process", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "biological regulation", - "abdominal segment of trunk", - "abnormal forelimb zeugopod morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "cellular metabolic process", - "abnormal cranial nerve morphology", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "musculature of face", - "cellular component organization", - "abnormal cellular component organization", - "compound organ", - "Abnormality of the peripheral nervous system", - "articular system", - "negative regulation of biological process", - "absent digit", - "nucleobase-containing compound metabolic process", - "renal system", - "abnormally localised kidney", - "obsolete nitrogen compound metabolic process", - "thoracic segment blood vessel", - "excretory system", - "circulatory system", - "abnormal digit", - "cellular organisms", - "thoracic segment of trunk", - "Abnormality of the musculature", - "short bone", - "abnormal organelle organization", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "mesoderm-derived structure", - "autopod bone", - "metabolic process", - "Abnormal morphology of the radius", - "abnormal skeletal joint morphology", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "abnormal chromatin organization", - "Chromosome breakage", + "anatomical entity morphology in the pectoral complex phenotype", + "number of anatomical enitites of type kidney phenotype", + "Abnormal granulocyte morphology", + "glandular system", + "Abnormal male external genitalia morphology", + "subdivision of head phenotype", + "blood cell phenotype", + "decreased number of granulocyte", + "multicellular anatomical structure phenotype", + "regulation of metabolic process", + "Decreased body weight", + "decreased size of the ectoderm-derived structure", + "manual digit 1", + "autopodial extension", + "absent trunk region element in the renal system", "continuant", - "forelimb zeugopod", - "abnormality of muscle organ physiology", + "paired limb/fin phenotype", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "musculature of body", + "camera-type eye phenotype", + "manus", + "bone of free limb or fin phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "integument phenotype", + "Abnormal eye physiology", "segment of autopod", - "organic cyclic compound metabolic process", - "manual digitopodium bone", + "response to stimulus phenotype", + "reproductive system", + "anatomical entity morphology in the manus phenotype", + "sensory perception of mechanical stimulus phenotype", + "anatomical line between pupils", "independent continuant", - "abnormal growth", - "articulation", - "Abnormality of facial musculature", - "aplasia or hypoplasia of proximal phalanx of manus", - "manual digit 1 digitopodial skeleton", - "regulation of gene expression", - "pectoral appendage", - "abnormal primary metabolic process", - "Abnormal joint morphology", - "body proper", - "abnormal peripheral nervous system", - "regulation of cellular process", - "biological_process", - "Abnormal localization of kidney", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal anatomical entity topology in independent continuant", - "cellular process", - "Abnormal digit morphology", - "abnormally localised anatomical entity", - "phenotype by ontology source", - "thoracic segment organ", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "appendicular skeleton", - "upper limb segment", - "organ", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "aplastic manual digit 1 phalanx", - "muscle organ", - "multicellular organism", - "regulation of macromolecule biosynthetic process", - "decreased length of forelimb zeugopod bone", - "Abnormality of the kidney", - "paralysed anatomical entity", - "phalanx endochondral element", - "abnormal carpal bone morphology", - "abnormal kidney morphology", - "macromolecule metabolic process", - "vascular system", - "Ectopic kidney", - "skeletal element", - "zeugopod", - "cavitated compound organ", - "abnormal brain morphology", - "abnormal phenotype by ontology source", + "aplastic manual digit 1", + "number of anatomical enitites of type organism subdivision phenotype", + "anatomical structure", + "localised trunk region element", + "absent lateral structure", + "Anemia", + "manus bone", + "Abnormality of the hand", + "radius bone", + "Subcutaneous hemorrhage", + "absent organism subdivision in the multicellular organism", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "absent multicellular anatomical structure in the forelimb", + "abdomen element phenotype", + "limb segment", + "cellular organisms", + "Abnormal neutrophil count", + "forelimb morphology phenotype", + "absent manual digit", "Abnormal thumb morphology", "subdivision of trunk", - "absent manual digit", - "proximal phalanx of manus", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "obsolete cell", - "decreased length of long bone", - "programmed DNA elimination", - "subdivision of organism along main body axis", - "negative regulation of cellular biosynthetic process", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", - "Abnormality of the upper urinary tract", - "vasculature", - "abnormal renal system", - "organ system subdivision", - "abnormal forelimb zeugopod bone", - "manual digit 1 phalanx", - "nervous system", + "subdivision of organism along appendicular axis", + "absent anatomical structure in the multicellular organism", + "telencephalon phenotype", + "male reproductive system phenotype", + "autopodial skeleton", + "DNA damage response", + "lateral structure", + "cellular process phenotype", + "multicellular organism phenotype", + "external genitalia phenotype", + "system process", + "Abnormality of mental function", + "external male genitalia phenotype", + "absent organ in the multicellular organism", + "multicellular organismal process", + "Hypergonadotropic hypogonadism", + "material anatomical entity physiology phenotype", + "number of anatomical enitites of type granulocyte phenotype", + "reproductive structure physiology phenotype", + "behavior phenotype", "forelimb zeugopod bone", - "Abnormality of brain morphology", - "Aplasia of the phalanges of the hand", - "appendage girdle complex", - "subdivision of head", - "trunk", - "skeletal musculature", - "anatomical entity hypoplasia in independent continuant", - "skeletal musculature of head", - "anatomical system", + "nervous system", + "renal system", + "endochondral bone phenotype", + "cognition", + "absent abdominal segment element", + "localised anatomical structure", + "simple eye phenotype", + "abdomen element", + "absent anatomical structure", + "localised kidney", + "skeletal system morphology phenotype", + "kidney phenotype", + "Abnormality of the upper urinary tract", + "absent cavitated compound organ", "Abnormal renal morphology", + "forelimb endochondral element phenotype", "Aplasia/Hypoplasia involving the central nervous system", - "abnormal anatomical entity morphology in the heart", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "appendage", - "root", - "Aplasia/Hypoplasia of the phalanges of the thumb", - "abnormally localised anatomical entity in independent continuant", - "regulation of biological process", - "arterial blood vessel", - "manual digitopodium region", - "upper urinary tract", - "aplastic carpal bone", - "abnormal renal system morphology", - "abnormal appendicular skeleton morphology", - "abnormality of cranial nerve physiology", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "aplasia or hypoplasia of anatomical entity", - "radius bone hypoplasia", - "aplastic forelimb zeugopod bone", - "Abnormality of the vasculature", - "subdivision of organism along appendicular axis", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "abnormal ductus arteriosus morphology", - "manual digit plus metapodial segment", - "agenesis of anatomical entity", - "aplastic manual digit 1", - "Abnormal finger phalanx morphology", - "Abnormal finger morphology", - "Aplasia/Hypoplasia of the thumb", - "absent metacarpal bone", - "absent anatomical entity", - "manual digit phalanx endochondral element", - "abnormal manual digit morphology in the independent continuant", - "manual digit bone", - "Abnormal morphology of the great vessels", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "aplasia or hypoplasia of manual digit 1", - "abdomen", - "manual digit 1 plus metapodial segment", - "manual digit", - "digit", - "Facial palsy", - "digit 1 or 5", - "skeleton of manual digitopodium", + "renal system phenotype", + "nucleic acid metabolic process", + "absent endochondral bone in the limb", + "renal collecting system", + "immune system morphology phenotype", + "Ectopic kidney", + "Hearing abnormality", + "absent anatomical structure in the renal system", "primary circulatory organ", - "autopodial skeleton", - "abnormal skeletal joint morphology in the pectoral complex", - "digitopodium region", - "acropodium region", + "skeleton of manual digitopodium", + "absent endochondral bone", + "localised organ", + "body proper", + "DNA repair phenotype", + "skeleton of digitopodium", + "Short digit", + "absent multicellular anatomical structure in the renal system", + "eye", + "compound organ", + "zeugopodial skeleton", + "limb long bone", "Finger aplasia", - "Abnormal proximal phalanx morphology of the hand", + "abdominal segment element phenotype", + "manual digit 1 plus metapodial segment", + "abdomen", + "compound organ phenotype", + "absent radius endochondral element in the forelimb", + "radius bone morphology phenotype", + "renal system morphology phenotype", + "localised male reproductive organ", + "Chromosome breakage", + "trunk region element phenotype", + "lateral structure phenotype", + "decreased functionality of the anatomical entity", + "Irregular hyperpigmentation", + "male organism", + "negative regulation of gene expression phenotype", + "localised compound organ", + "Abnormal granulocyte count", + "skin of body phenotype", + "Abnormality of the kidney", + "trunk", + "absent trunk region element in the multicellular organism", + "blood cell", + "Abnormality of the genitourinary system", + "excretory system", + "subdivision of organism along main body axis", + "Abnormal conjugate eye movement", + "renal/urinary system phenotype", + "forelimb bone", + "postcranial axial skeletal system", + "kidney morphology phenotype", + "Abnormal reproductive system morphology", + "upper urinary tract phenotype", + "integument", + "platelet phenotype", + "biological_process", + "genitourinary system phenotype", + "decreased length of digit", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "upper urinary tract", + "Growth delay", + "kidney", + "regional part of nervous system", + "telencephalon morphology phenotype", + "skull phenotype", + "forelimb", + "Abnormal forebrain morphology", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "limb long bone phenotype", + "multi-tissue structure", + "regulation of macromolecule biosynthetic process phenotype", + "Decreased head circumference", + "Abnormality of the nervous system", + "central nervous system morphology phenotype", + "cardiovascular system morphology phenotype", + "Growth abnormality", + "axial skeletal system", + "absent arm bone", + "reproductive organ", + "primary metabolic process phenotype", + "forebrain morphology phenotype", + "Abnormality of body weight", "aplasia or hypoplasia of telencephalon", - "abnormal nervous system", - "abnormal musculature", - "abnormal forebrain morphology", + "decreased size of the multicellular organism", + "Abnormal bone marrow cell morphology", + "number of anatomical enitites of type anatomical structure phenotype", + "Abnormality of skull size", + "craniocervical region", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "subdivision of organism along main body axis phenotype", + "regulation of gene expression phenotype", + "system", + "brain morphology phenotype", + "forelimb skeleton", + "endocrine system", + "head morphology phenotype", + "Hematological neoplasm", + "regional part of nervous system phenotype", + "decreased length of manual digit 1 or 5", + "decreased functionality of the multicellular anatomical structure", + "ectoderm-derived structure phenotype", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "absent limb bone in the forelimb", + "erythroid lineage cell", + "telencephalon", + "head phenotype", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "decreased sensory perception of mechanical stimulus", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "cranial skeletal system", + "craniocervical region phenotype", + "brain", + "Abnormality of head or neck", + "Abnormal skull morphology", + "Abnormal brain morphology", + "absent material anatomical entity in the skeletal system", + "limb skeleton subdivision", + "location of anatomical entity phenotype", + "skull", + "autopod endochondral element", + "homeostatic process phenotype", + "Abnormality of limb bone", + "central nervous system", + "Abnormality of the genital system", + "reproductive organ physiology phenotype", + "decreased functionality of the material anatomical entity", + "Puberty and gonadal disorders", + "myeloid leukocyte phenotype", + "forebrain", + "gonad physiology phenotype", + "nucleate cell", + "reproductive structure phenotype", + "multicellular anatomical structure physiology phenotype", + "limb endochondral element phenotype", + "number of anatomical enitites of type abdomen element phenotype", + "absent arm bone in the forelimb", + "viscus", + "anatomical entity mass phenotype", + "reproductive organ phenotype", + "sense organ phenotype", + "Abnormality of reproductive system physiology", + "absent lateral structure in the renal system", + "behavior process phenotype", + "reproductive system phenotype", + "skull morphology phenotype", + "localised reproductive structure", + "gonad phenotype", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "Neutropenia", + "reproductive structure", + "vasculature phenotype", + "growth phenotype", + "Abnormality of the endocrine system", + "number of anatomical enitites of type skeletal element phenotype", + "number of anatomical enitites of type abdominal segment element phenotype", + "neutrophil", + "absent abdomen element", + "decreased number of anatomical structure", + "absent cavitated compound organ in the renal system", + "number of anatomical enitites of type organ phenotype", + "Duplication of phalanx of hand", + "number of anatomical enitites of type cavitated compound organ phenotype", + "absent organ", + "manual digit phalanx endochondral element", + "number of anatomical enitites of type trunk region element phenotype", + "decreased functionality of the reproductive structure", + "Cryptorchidism", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "absent trunk region element", + "Renal agenesis", + "motile cell", + "absent abdominal segment element in the renal system", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "absent organ in the renal system", + "digit morphology phenotype", + "absent abdomen element in the renal system", + "absent material anatomical entity in the renal system", + "Abnormal platelet count", + "absent compound organ", + "oxygen accumulating cell", + "Abnormality of the integument", + "erythroid lineage cell morphology phenotype", + "sensory perception of mechanical stimulus", + "Abnormal upper limb bone morphology", + "skin of body", + "integumental system", + "material anatomical entity", + "skin of body morphology phenotype", + "Abnormal skin morphology", + "shape of continuant phenotype", + "anucleate cell", + "Abnormality of thrombocytes", + "limb bone phenotype", + "secretory cell", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "absent bone of appendage girdle complex", + "organ phenotype", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "testis", + "localised reproductive organ", + "gonad", + "localised gonad", + "male reproductive system", + "cardiovascular system phenotype", + "localised abdomen element", + "Abnormal testis morphology", + "disconnected anatomical group", + "male reproductive organ", + "testis phenotype", + "response to stress phenotype", + "Small for gestational age", + "Abnormal forearm morphology", + "absent forelimb bone in the forelimb", + "absent limb bone in the limb", + "aplastic forelimb zeugopod bone", + "forelimb long bone", + "serotonin secreting cell", + "craniofacial/craniocervical phenotype", + "absent forelimb long bone in the forelimb", + "radius endochondral element", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Aplasia involving bones of the upper limbs", + "Abnormal cerebral morphology", + "limb segment phenotype", + "absent endochondral element in the limb", + "Abnormal nervous system morphology", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "forelimb zeugopod", + "absent limb long bone", + "absent limb endochondral element in the forelimb", + "regulation of biological process phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "organ system subdivision phenotype", + "anatomical entity physiology phenotype", + "number of anatomical enitites of type endochondral element phenotype", + "absent skeletal element in the limb", + "Pallor", + "absent radius bone", + "absent anatomical structure in the skeletal system" + ], + "has_phenotype_count": 32, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0012187", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group J", + "full_name": null, + "deprecated": null, + "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.", + "xref": [ + "DOID:0111097", + "GARD:15449", + "MEDGEN:323015", + "MESH:C563801", + "NCIT:C129027", + "OMIM:609054", + "UMLS:C1836860" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FANCJ", + "Fanconi Anemia, complementation group type J", + "Fanconi anaemia complementation group type J", + "Fanconi anemia complementation group J", + "Fanconi anemia complementation group type J", + "Fanconi anemia, complementation group J" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0008897", + "HP:0009778", + "HP:0005528", + "HP:0001511", + "HP:0007565", + "HP:0000568", + "HP:0001263", + "HP:0003221" + ], + "has_phenotype_label": [ + "Postnatal growth retardation", + "Short thumb", + "Bone marrow hypocellularity", + "Intrauterine growth retardation", + "Multiple cafe-au-lait spots", + "Microphthalmia", + "Global developmental delay", + "Chromosomal breakage induced by crosslinking agents" + ], + "has_phenotype_closure": [ + "GO:0005623", + "UPHENO:0050007", + "UPHENO:0049775", + "HP:0001939", + "GO:0010468", + "GO:0031327", + "UPHENO:0049904", + "GO:0050794", 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"UPHENO:0052778", + "UBERON:0002398", + "UPHENO:0080099", + "UPHENO:0002782", + "UPHENO:0076703", + "UPHENO:0002983", + "GO:0031326", + "UPHENO:0002526", + "HP:0001510", + "UBERON:0002470", + "HP:0001871", + "UBERON:0000019", + "UBERON:0010708", + "UBERON:0002371", + "UPHENO:0069266", + "UPHENO:0076692", + "UPHENO:0002536", + "UPHENO:0046528", + "UPHENO:0002568", + "UBERON:0015061", + "UPHENO:0074575", + "HP:0011017", + "UBERON:0012141", + "UPHENO:0002976", + "UPHENO:0079876", + "UPHENO:0049642", + "UPHENO:0050106", + "UPHENO:0046624", + "UPHENO:0076723", + "UBERON:0005451", + "UPHENO:0012440", + "UPHENO:0002554", + "BFO:0000001", + "UPHENO:0087472", + "UPHENO:0069327", + "UPHENO:0046707", + "HP:0001172", + "HP:0000118", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0002928", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0001456", + "UPHENO:0000541", + "UPHENO:0005642", + "BFO:0000015", + "UPHENO:0002905", + "UBERON:0012139", + "UBERON:0010538", + "UBERON:0019221", + 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"UPHENO:0081581", + "UBERON:5001463", + "UBERON:0000062", + "UPHENO:0003811", + "GO:0048856", + "GO:0040007", + "UBERON:0001460", + "UPHENO:0068971", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:3000007", + "UBERON:0010740", + "UBERON:0004121", + "UBERON:0010712", + "UPHENO:0002635", + "GO:0031323", + "UBERON:0002513", + "UBERON:0002529", + "UPHENO:0049874", + "UPHENO:0003799", + "BFO:0000003", + "UBERON:5002389", + "GO:0010556", + "PR:000050567", + "UPHENO:0046505", + "UBERON:0004708", + "UPHENO:0049743", + "UPHENO:0087924", + "UPHENO:0001002", + "HP:0006265", + "BFO:0000020", + "UPHENO:0076727", + "UPHENO:0049868", + "UPHENO:0003082", + "UBERON:0001015", + "GO:0042592", + "UBERON:0034925", + "UPHENO:0050034", + "HP:0012758", + "UPHENO:0002945", + "UPHENO:0075997", + "UPHENO:0003049", + "GO:0008150", + "UPHENO:0002830", + "UPHENO:0084448", + "UBERON:0004710", + "UBERON:0010758", + "UPHENO:0046740", + "UPHENO:0052160", + "UPHENO:0076740", + "UBERON:0010314", + "UBERON:0001062", + 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"regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "programmed DNA elimination by chromosome breakage phenotype", + "regulation of macromolecule biosynthetic process phenotype", + "negative regulation of metabolic process phenotype", + "Abnormality of chromosome stability", + "negative regulation of cellular biosynthetic process", + "metabolic process", + "negative regulation of cellular metabolic process", + "Chromosome breakage", + "negative regulation of biological process phenotype", + "homeostatic process", + "Chromosomal breakage induced by crosslinking agents", + "regulation of metabolic process phenotype", + "regulation of cellular metabolic process phenotype", + "Abnormality of metabolism/homeostasis", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "negative regulation of biological process", + "obsolete cell", + "biological regulation phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "programmed DNA elimination", + "nervous system", + "material anatomical entity physiology phenotype", "Abnormality of the nervous system", - "Abnormal hand morphology", - "Metazoa", - "axial skeleton plus cranial skeleton", - "heart vasculature", - "cranial neuron projection bundle", - "abnormal craniocervical region morphology", - "abnormal nervous system morphology", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "Abnormal skull morphology", - "abnormal metacarpal bone morphology", - "abnormal anatomical entity morphology in the brain", - "Decreased head circumference", - "telencephalon", - "Abnormal peripheral nerve morphology by anatomical site", - "Weakness of facial musculature", - "Growth abnormality", - "axial skeletal system", - "cranial skeletal system", + "anatomical entity physiology phenotype", + "Neurodevelopmental abnormality", + "nervous system physiology phenotype", + "anatomical structure physiology phenotype", + "Global developmental delay", + "camera-type eye", "Abnormality of head or neck", - "Aplasia/hypoplasia involving forearm bones", - "metapodium region", - "abnormal head morphology", - "abnormal head", - "Abnormality of skull size", - "decreased muscle organ strength", - "postcranial axial skeleton", - "negative regulation of cellular metabolic process", - "Eukaryota", - "Eumetazoa", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormality of limb bone", - "autopod endochondral element", - "central nervous system", - "regional part of brain", - "metacarpus skeleton", - "musculature", - "forelimb long bone", - "abnormal size of skull", - "forelimb", - "Abnormal forebrain morphology", - "heart", - "organic substance metabolic process", + "Abnormality of the face", + "eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "craniocervical region phenotype", + "main body axis", + "subdivision of organism along main body axis", + "Abnormality of the orbital region", + "regulation of macromolecule biosynthetic process", + "head phenotype", + "camera-type eye morphology phenotype", + "biological regulation", + "regulation of cellular biosynthetic process", + "Abnormality of globe size", + "face phenotype", + "head morphology phenotype", + "orbital region", + "regulation of biosynthetic process phenotype", + "subdivision of organism along main body axis phenotype", + "craniocervical region", + "body proper", + "Abnormal nervous system physiology", + "Aplasia/Hypoplasia affecting the eye", + "eyeball of camera-type eye phenotype", + "visual system", + "regulation of cellular process", + "craniofacial/craniocervical phenotype", "Abnormality of the head", - "abnormal limb morphology", - "anatomical conduit", - "abnormal skeletal joint morphology in the independent continuant", + "sense organ phenotype", + "simple eye", + "face morphology phenotype", + "homeostatic process phenotype", + "subdivision of head phenotype", + "regulation of cellular biosynthetic process phenotype", + "Abnormal skin morphology", + "increased biological_process", + "increased pigmentation in skin of body", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "Irregular hyperpigmentation", + "ectoderm-derived structure phenotype", + "skin of body phenotype", + "pigmentation", + "Abnormality of the integument", + "endochondral element", + "organism subdivision phenotype", + "multi-limb segment region", + "digit 1 or 5 phenotype", + "limb segment phenotype", + "organism subdivision", + "vision/eye phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "process", + "digit 1 plus metapodial segment", + "negative regulation of cellular process phenotype", + "decreased size of the autopodial extension", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "regulation of biological process", + "digit 1 phenotype", + "bone of appendage girdle complex", + "integumental system", + "anatomical entity morphology in the manus phenotype", + "independent continuant", + "decreased multicellular organism development", + "decreased length of digit 1", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "decreased size of the digit", + "negative regulation of metabolic process", + "musculature phenotype", + "sense organ", + "anatomical system phenotype", + "craniocervical region morphology phenotype", + "aplasia or hypoplasia of skeleton", + "bone of free limb or fin", + "digit morphology phenotype", + "musculature of body", + "Neurodevelopmental delay", + "pectoral appendage", + "aplasia or hypoplasia of eyeball of camera-type eye", + "sensory system", + "multicellular organism morphology phenotype", + "subdivision of organism along appendicular axis phenotype", + "manus", + "integument phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "bone marrow", + "acropodium region", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "limb bone phenotype", + "manual digit plus metapodial segment", + "protein-containing material entity", + "segment of manus", + "multicellular organismal process", + "limb bone", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormality of skin pigmentation", + "skeleton of limb", + "Abnormality of the skin", + "organ system subdivision phenotype", + "anatomical structure", + "musculature", + "developmental process rate phenotype", + "Abnormal digit morphology", + "anterior region of body", + "skeletal system", + "skin of body", + "Abnormality of the musculoskeletal system", + "decreased length of manual digit 1", + "forelimb skeleton", + "autopod region phenotype", + "taxon specific phenotype", + "paired limb/fin phenotype", + "decreased length of anatomical structure", + "decreased developmental process", + "autopodial extension phenotype", + "Short finger", + "skeleton of manus", + "mesoderm-derived structure", + "paired limb/fin segment phenotype", + "developmental process phenotype", + "lateral structure", + "Short digit", + "upper limb segment", + "appendicular skeleton", + "Abnormal cellular physiology", + "forelimb morphology phenotype", + "limb segment", + "digit 1", + "aplasia or hypoplasia of manual digit", "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "Short long bone", - "abnormal skull morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", + "biological_process", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "entire sense organ system", + "continuant", + "anatomical system physiology phenotype", + "tissue", + "delayed biological_process", + "manual digit morphology in the manus phenotype", + "limb skeleton subdivision", + "nervous system phenotype", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "decreased length of material anatomical entity", + "decreased qualitatively biological_process", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of the hand", + "decreased size of the multicellular anatomical structure", + "decreased qualitatively embryo development", + "skeleton phenotype", + "aplasia or hypoplasia of manual digit 1", + "decreased size of the organism subdivision", + "material anatomical entity", + "bone element", + "mesoderm-derived structure phenotype", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "manus phenotype", + "paired limb/fin", + "specifically dependent continuant", "growth", - "abnormal biological_process", - "kidney", + "Abnormal thumb morphology", + "decreased size of the ectoderm-derived structure", + "subdivision of organism along appendicular axis", + "multicellular organism development phenotype", + "decreased size of the anatomical structure in the pectoral complex", + "multicellular organismal process phenotype", + "manual digitopodium region", + "Abnormal eye morphology", + "manual digit", + "pectoral appendage skeleton", + "quality", + "decreased length of multicellular anatomical structure", "Growth delay", - "lateral structure", - "vessel", + "Abnormal limb bone morphology", + "manus morphology phenotype", + "material anatomical entity phenotype", + "decreased length of digit 1 or 5", + "growth phenotype", + "decreased length of autopodial extension", + "endochondral bone", + "upper limb segment phenotype", + "subdivision of skeleton", + "programmed DNA elimination by chromosome breakage", + "face", + "anatomical entity morphology phenotype", + "Growth abnormality", + "manual digit 1 plus metapodial segment", + "embryo development phenotype", + "manual digit 1 or 5", + "anatomical system", "delayed growth", - "abnormal cardiovascular system", - "absent forelimb zeugopod bone", - "systemic arterial system", - "absent radius bone in the independent continuant", - "abnormal manual digit 1 morphology", - "Absent forearm bone", - "Absent radius", - "absent radius bone in the forelimb", - "Patent ductus arteriosus", - "abnormal cardiovascular system morphology", - "abnormal phalanx of manus morphology", - "abnormal genitourinary system", - "abnormal vasculature", - "abnormal incomplete closing of the anatomical entity", - "abnormal great vessel of heart morphology", - "arterial system", - "blood vasculature", - "long bone", - "material entity", - "negative regulation of biosynthetic process", - "phalanx of manus", - "abnormal limb long bone morphology", - "heart blood vessel", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal coronary vessel morphology", - "nerve", - "heart plus pericardium", - "vasculature of trunk", - "mesopodium region", - "aplasia or hypoplasia of metacarpal bone", - "systemic artery", - "abnormal cell", - "disconnected anatomical group", - "viscus", - "Abnormal heart morphology", - "negative regulation of macromolecule biosynthetic process", - "abnormal vascular system morphology", - "anatomical cluster", - "abnormal blood vessel morphology", - "abnormal artery morphology in the independent continuant", - "great vessel of heart", - "trunk blood vessel", - "Abnormal forearm morphology", - "abnormal artery morphology", - "abnormality of anatomical entity physiology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "Abnormal blood vessel morphology", - "conceptus", - "abnormal incomplete closing of the ductus arteriosus", - "coronary vessel", - "musculature of body", - "artery", - "abnormal opening of the anatomical entity", - "ductus arteriosus", - "abnormal arm", - "Abnormal vascular morphology", - "organism subdivision", - "embryonic cardiovascular system", - "metapodium bone 1", - "paralysed cranial nerve", - "Abnormal cranial nerve morphology", - "Abnormality of the face", - "Abnormality of the cardiovascular system", - "Abnormality of the seventh cranial nerve", - "Cranial nerve paralysis", - "absent anatomical entity in the independent continuant", - "Muscle weakness", - "Abnormal upper limb bone morphology", - "Abnormal peripheral nervous system morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "skeletal muscle organ, vertebrate", - "cranial or facial muscle", - "multi cell part structure", - "Aplasia/Hypoplasia involving the metacarpal bones", - "Abnormality of facial soft tissue", - "Abnormal nervous system physiology", - "main body axis", - "gustatory system", + "limb endochondral element", "phenotype", - "nerve of head region", - "Abnormal skeletal muscle morphology", - "abnormal nerve", - "circulatory organ", - "cranial nerve", - "abnormal phalanx morphology", - "multi-tissue structure", - "abnormal peripheral nervous system morphology", - "craniocervical region musculature", - "axial musculature", - "manual digit digitopodial skeleton", - "craniocervical muscle", - "decreased anatomical entity strength", - "abnormal muscle organ morphology", - "neuron projection bundle", - "Abnormal cranial nerve physiology", - "cranial muscle", - "facial muscle", - "abnormal digit morphology", - "Abnormal 1st metacarpal morphology", - "Partial absence of thumb", - "Aplasia of the 1st metacarpal", - "abnormal anatomical entity morphology in the manus", - "proximal phalanx", - "Aplasia/Hypoplasia of the 1st metacarpal", - "absent metacarpal bone in the metacarpus region", + "Abnormal cell morphology", + "Abnormal appendicular skeleton morphology", + "material entity", + "Macule", + "anatomical collection phenotype", + "limb bone morphology phenotype", + "autopodial skeleton", + "digit 1 or 5", + "bone of appendage girdle complex phenotype", + "decreased size of the manual digit", + "anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively anatomical structure development", + "arm", + "hematopoietic system", + "arm phenotype", + "multicellular organism", + "disconnected anatomical group", + "decreased length of anatomical entity", + "decreased length of organism subdivision", + "paired limb/fin skeleton", + "limb phenotype", + "organ system subdivision", + "orbital region phenotype", + "appendage phenotype", + "manual digit 1 morphology phenotype", + "endochondral element phenotype", + "phenotypic effect", + "size of anatomical entity phenotype", + "regulation of gene expression", + "autopod region morphology phenotype", + "subdivision of head", + "decreased length of manual digit 1 or 5", + "multi-limb segment region phenotype", + "head", + "Abnormality of limb bone", + "pectoral complex", + "size of eyeball of camera-type eye phenotype", + "bone element phenotype", + "biological_process phenotype", + "decreased size of the material anatomical entity", + "multicellular anatomical structure", + "Abnormal skeletal morphology", + "forelimb", "decreased size of the anatomical entity in the pectoral complex", - "aplastic phalanx of manus", - "absent carpal bone in the limb", + "hematopoietic system phenotype", + "appendicular skeletal system", + "eye", + "paired limb/fin segment", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "decreased anatomical structure development", + "digit", + "limb endochondral element phenotype", + "Hyperpigmentation of the skin", + "skeleton of pectoral complex", + "integument", + "decreased length of digit", + "aplasia or hypoplasia of anatomical entity", + "anatomical entity length phenotype", + "regulation of macromolecule metabolic process phenotype", + "skeletal element", + "Bone marrow hypocellularity", + "Abnormality of limbs", + "Abnormality of the eye", + "musculoskeletal system", + "autopodial extension", + "multicellular anatomical structure phenotype", + "anatomical entity phenotype", + "appendage", + "digit plus metapodial segment", + "decreased size of the anatomical structure", + "Localized skin lesion", + "Abnormal hand morphology", + "decreased size of the material anatomical entity in the pectoral complex", + "decreased qualitatively developmental process", + "regulation of biological process phenotype", + "entity", + "subdivision of skeletal system", "occurrent", - "metacarpal bone", - "manual digit 1 metacarpus endochondral element", - "manual digit 1 phalanx endochondral element", - "radius bone", - "Abnormality of the hand", - "abnormal facial nerve", - "manus bone", - "metacarpal bone of digit 1", - "skeleton of manual acropodium", - "metapodium bone", - "digitopodium bone", - "vasculature of organ", - "phalanx", - "aplasia or hypoplasia of metacarpal bone of digit 1", - "Abnormal metacarpal morphology", - "Abnormality of thumb phalanx", - "abnormal face", - "Aplasia of metacarpal bones", - "skeleton of digitopodium", - "aplasia or hypoplasia of phalanx of manus", - "manual digit metacarpus endochondral element", - "metapodial skeleton" + "organ", + "appendicular skeleton morphology phenotype", + "decreased size of the organ", + "skeletal element phenotype", + "endochondral bone phenotype", + "Postnatal growth retardation", + "skeletal system phenotype", + "anatomical structure phenotype", + "bone of free limb or fin phenotype", + "decreased length of manual digit", + "limb morphology phenotype", + "organ phenotype", + "manual digit phenotype", + "pigmentation phenotype", + "Hypermelanotic macule", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the upper limbs", + "digit phenotype", + "appendage girdle complex", + "regulation of gene expression phenotype", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "hemolymphoid system", + "immune system", + "system", + "bone marrow cell", + "Abnormality of the upper limb", + "limb", + "cell", + "non-connected functional system", + "skeletal system morphology phenotype", + "cell phenotype", + "Abnormal cellular phenotype", + "Abnormality of the immune system", + "negative regulation of macromolecule metabolic process", + "Abnormal bone marrow cell morphology", + "Abnormality of blood and blood-forming tissues", + "skeleton", + "immune system phenotype", + "embryo development", + "embryo development rate phenotype", + "Short thumb", + "Intrauterine growth retardation", + "negative regulation of gene expression phenotype", + "segment of autopod", + "multicellular organism development", + "regulation of cellular process phenotype", + "anatomical structure development", + "biological_process rate phenotype", + "decreased qualitatively multicellular organism development", + "decreased multicellular organismal process", + "developmental process", + "anatomical structure development phenotype", + "negative regulation of biosynthetic process", + "decreased qualitatively multicellular organismal process", + "decreased embryo development", + "increased pigmentation", + "increased biological_process in skin of body", + "Cafe-au-lait spot", + "Microphthalmia", + "Multiple cafe-au-lait spots", + "decreased size of the sense organ", + "skin of body morphology phenotype" ], - "has_phenotype_count": 11, + "has_phenotype_count": 8, "highlight": null, "score": null }, { - "id": "MONDO:0054748", + "id": "MONDO:0012186", "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group S", + "name": "Fanconi anemia complementation group I", "full_name": null, "deprecated": null, - "description": null, - "xref": ["GARD:16264", "OMIM:617883"], + "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.", + "xref": [ + "DOID:0111091", + "GARD:15448", + "MEDGEN:323016", + "MESH:C563802", + "NCIT:C129026", + "OMIM:609053", + "UMLS:C1836861" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCS", - "Fanconi anemia, complementation GROUP S", - "Fanconi anemia, complementation group S" + "FANCI", + "Fanconi Anemia, complementation Group 1", + "Fanconi Anemia, complementation group type 1", + "Fanconi anaemia complementation group type I", + "Fanconi anemia complementation group I", + "Fanconi anemia complementation group type I", + "Fanconi anemia, complementation group I" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0100615", - "HP:0000430", - "HP:0000750", - "HP:0001249", + "HP:0001875", + "HP:0002984", + "HP:0002247", + "HP:0000543", + "HP:0001655", + "HP:0000325", + "HP:0000545", + "HP:0003974", + "HP:0001873", + "HP:0009778", + "HP:0001631", + "HP:0001511", + "HP:0000405", + "HP:0000470", + "HP:0009777", + "HP:0000483", + "HP:0000821", + "HP:0002949", + "HP:0030048", "HP:0000252", - "HP:0000582", - "HP:0000316", - "HP:0000581", - "HP:0000527", + "HP:0000413", + "HP:0004325", + "HP:0034323", "HP:0000568", - "HP:0000689", - "HP:0000426", - "HP:0000294", + "HP:0002308", + "HP:0000609", "HP:0001263", - "HP:0003002", - "HP:0025318", - "HP:0000215", - "HP:0030084", + "HP:0003221", + "HP:0000076", + "HP:0001643", + "HP:0005528", + "HP:0030680", + "HP:0000957", "HP:0001903", - "HP:0001508", - "HP:0008070", - "HP:0000280", - "HP:0001251", + "HP:0001629", + "HP:0010034", + "HP:0012210", + "HP:0012506", + "HP:0000085", + "HP:0001274", "HP:0004322", - "HP:0000463", - "HP:0000189", - "HP:0001572", - "HP:0000286", - "HP:0009623" + "HP:0000089", + "HP:0000365", + "HP:0001331", + "HP:0005528" ], "has_phenotype_label": [ - "Chromosome breakage", - "Ovarian neoplasm", - "Underdeveloped nasal alae", - "Delayed speech and language development", - "Intellectual disability", + "Neutropenia", + "Hypoplasia of the radius", + "Duodenal atresia", + "Optic disc pallor", + "Patent foramen ovale", + "Triangular face", + "Myopia", + "Absent radius", + "Thrombocytopenia", + "Short thumb", + "Atrial septal defect", + "Intrauterine growth retardation", + "Conductive hearing impairment", + "Short neck", + "Absent thumb", + "Astigmatism", + "Hypothyroidism", + "Fused cervical vertebrae", + "Colpocephaly", "Microcephaly", - "Upslanted palpebral fissure", - "Hypertelorism", - "Blepharophimosis", - "Long eyelashes", + "Atresia of the external auditory canal", + "Decreased body weight", + "Reduced circulating growth hormone concentration", "Microphthalmia", - "Dental malocclusion", - "Prominent nasal bridge", - "Low anterior hairline", + "Chiari malformation", + "Optic nerve hypoplasia", "Global developmental delay", - "Breast carcinoma", - "Ovarian carcinoma", - "Thick upper lip vermilion", - "Clinodactyly", + "Chromosomal breakage induced by crosslinking agents", + "Vesicoureteral reflux", + "Patent ductus arteriosus", + "Bone marrow hypocellularity", + "Abnormal cardiovascular system morphology", + "Cafe-au-lait spot", "Anemia", - "Failure to thrive", - "Sparse hair", - "Coarse facial features", - "Ataxia", + "Ventricular septal defect", + "Short 1st metacarpal", + "Abnormal renal morphology", + "Small pituitary gland", + "Horseshoe kidney", + "Agenesis of corpus callosum", "Short stature", - "Anteverted nares", - "Narrow palate", - "Macrodontia", - "Epicanthus", - "Proximal placement of thumb" + "Renal hypoplasia", + "Hearing impairment", + "Absent septum pellucidum", + "Bone marrow hypocellularity" ], "has_phenotype_closure": [ - "UBERON:0008785", - "UBERON:0006048", - "UBERON:0019231", - "UPHENO:0084448", - "UBERON:0001460", - "UPHENO:0084834", - "HP:0009484", - "UBERON:5002389", - "HP:0001167", - "UPHENO:0086633", - "UBERON:0010708", - "HP:0004097", - "UPHENO:0002880", - "UPHENO:0076723", - "UPHENO:0076724", - "UPHENO:0084761", + "UPHENO:0008686", + "UBERON:0004714", + "UBERON:0000119", + "UPHENO:0025363", + "UPHENO:0025368", + "UPHENO:0009312", + "UBERON:0005401", + 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"HP:0002818", + "UPHENO:0054304", + "HP:0004325", + "UPHENO:0054374", + "UPHENO:0010799", + "UPHENO:0033559", + "UPHENO:0082794", + "HP:0000152", + "UPHENO:0050014", + "UBERON:0002495", + "UBERON:0000463", + "GO:0030252", + "UPHENO:0008430", + "UBERON:0006555", "GO:0050789", - "HP:0000765", - "UBERON:0012139", - "OBI:0100026", - "UPHENO:0001072", - "HP:0000499", - "HP:0011121", - "UBERON:0002104", - "UPHENO:0076771", - "CL:0000000", - "HP:0003002", - "HP:0008056", - "UPHENO:0080209", - "BFO:0000020", - "UPHENO:0081566", - "UBERON:0012354", - "HP:0009623", - "HP:0005105", + "HP:0000069", + "GO:0002790", + "HP:0009602", + "HP:0012638", + "UPHENO:0002211", + "HP:0008058", + "HP:0003117", + "UPHENO:0050025", + "UPHENO:0077391", + "UPHENO:0002568", + "UPHENO:0080588", + "UPHENO:0049894", + "HP:0001367", + "UPHENO:0049829", + "GO:0031052", + "CHEBI:24431", + "UBERON:0001352", + "GO:0071705", + "GO:0046903", + "UPHENO:0049724", + "GO:0010817", + "UBERON:0003528", + "GO:0023052", + "UPHENO:0050121", "UPHENO:0075219", + "UPHENO:0069161", + "UPHENO:0063794", + "UBERON:0000063", + "HP:0008056", + "UPHENO:0068914", + "UBERON:0000446", + "UPHENO:0069064", "HP:0000568", - "UBERON:0009680", - "HP:0025031", - "UPHENO:0076803", - "UBERON:0013522", - "UBERON:0001709", - "UBERON:0034926", - "UPHENO:0049874", - "HP:0025033", - "UBERON:0011156", - "HP:0100547", - "UBERON:0003277", - "HP:0000426", - "HP:0100013", - "HP:0000174", - "GO:0043933", - "UPHENO:0002896", - "UBERON:0004921", - "GO:0006725", - "UPHENO:0076800", - "UPHENO:0002826", - "UPHENO:0088170", + "UPHENO:0080209", + "UPHENO:0081601", + "UPHENO:0002636", + "HP:0002308", + "UPHENO:0002523", + "UPHENO:0041037", + "UBERON:0010741", + "HP:0009121", + "UPHENO:0071308", + "UPHENO:0071339", + "UBERON:0004732", + "UBERON:0004086", + "UPHENO:0076720", + "UPHENO:0071344", + "UPHENO:0081435", + "UPHENO:0002538", + "UBERON:0003509", + "HP:0001655", + "UPHENO:0081264", + "HP:0008057", + "UPHENO:0069476", + "UPHENO:0002562", + "UPHENO:0080208", + "HP:0001263", + "UBERON:0036295", + "UPHENO:0050778", + "UPHENO:0003049", + "UPHENO:0050040", + "UPHENO:0009195", + "GO:0055127", + "UPHENO:0049699", + "GO:0010629", + "HP:0003221", + "GO:0031324", + "GO:0010605", + "GO:0031326", + "GO:0010556", + "HP:0000413", + "UPHENO:0050063", + "HP:0034323", + "UBERON:0015021", + "UPHENO:0049620", + "GO:0009892", + "GO:0031323", + "GO:0009889", + "GO:0060255", + "GO:0008152", + "GO:0019222", + "UBERON:0010912", + "GO:0050794", + "GO:0010558", + "HP:0001939", + "HP:0000009", + "UPHENO:0050126", + "UPHENO:0050784", + "UBERON:0008001", + "UPHENO:0049775", + "GO:0023061", + "GO:0005623", + "UPHENO:0084447", + "HP:0010935", + "UPHENO:0063562", + "UPHENO:0002246", + "UBERON:0011299", + "HP:0012372", + "UBERON:0005179", + "GO:0065007", + "UBERON:0004121", + "UPHENO:0003093", + "UPHENO:0002806", + "UPHENO:0008548", + "UBERON:0005173", "UBERON:0010740", - "UBERON:0000167", - "UPHENO:0076786", - "UBERON:0004089", - "HP:0031816", - "CL:0000763", - "HP:0000153", - "UBERON:0004088", - "UBERON:0000025", - "UPHENO:0087585", - "UPHENO:0081585", - "UBERON:0005928", - "UPHENO:0076727", - "UBERON:0001819", - "HP:0000422", - "UPHENO:0069523", - "UPHENO:0082900", - "HP:0000692", - "UPHENO:0084928", - "UPHENO:0082903", - "HP:0009553", - "HP:0000290", - "UBERON:0003102", - "HP:0000599", - "UBERON:0011158", - "UBERON:0004104", - "UBERON:0034925", - "HP:0010720", - "HP:0100037", - "UBERON:0000004", - "UBERON:0008200", - "HP:0001965", - "UBERON:1000021", - "UPHENO:0080369", - "UBERON:0002398", - "UBERON:0009569", - "UBERON:0000310", - "HP:0002167", - "UPHENO:0086842", - "UPHENO:0081605", - "UBERON:0000915", - "HP:0008070", - "UPHENO:0002833", - "UPHENO:0010763", - "UPHENO:0018390", - "UBERON:0001444", - "HP:0000769", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0002931", - "HP:0031093", - "UPHENO:0074360", - "UPHENO:0087472", - "HP:0025318", + "UBERON:0019207", + "UPHENO:0002642", + "UPHENO:0008925", + "UPHENO:0002634", + "UPHENO:0002603", + "UBERON:0001255", + "UBERON:0018707", + "UPHENO:0002437", "UBERON:0000033", - "UPHENO:0082938", - "UPHENO:0086700", - "UBERON:0001833", - "UBERON:0001834", - "UBERON:0001016", - "UPHENO:0020955", - "HP:0000177", - "UPHENO:0002915", - "HP:0040064", - "UPHENO:0022529", - "HP:0040012", - "UBERON:0010707", - "UBERON:0002428", - "HP:0001903", - "UPHENO:0004459", - "UBERON:0001711", - "UPHENO:0086144", - "UBERON:5002544", - "UBERON:0001062", - "UBERON:0005881", - "UBERON:0010758", - "HP:0011297", - "HP:0000002", - "UPHENO:0076740", - "UBERON:0005725", - "UBERON:0000026", - "UPHENO:0084829", - "UPHENO:0002905", - "UPHENO:0002708", - "HP:0040068", - "HP:0001263", - "HP:0030084", - "UBERON:0003566", - "UBERON:0010712", - "UBERON:0002091", - "UBERON:0002529", - "GO:0003008", - "UBERON:0010538", - "UBERON:0011249", - "UPHENO:0084763", - "HP:0000309", - "UBERON:0004375", - "UPHENO:0087006", - "UBERON:0004120", - "UBERON:0007827", - "UBERON:0002470", - "HP:0012130", - "CL:0000232", - "UBERON:0004708", - "UPHENO:0085068", - "HP:0001877", - "UPHENO:0085118", - "UBERON:0004710", - "UPHENO:0088162", - "HP:0001871", - "UPHENO:0054299", - "UPHENO:0005433", - "UBERON:0019221", - "UPHENO:0053208", - "HP:0001507", - "UPHENO:0002828", - "HP:0001508", - "GO:0040007", - "HP:0000215", - "UPHENO:0031839", - "HP:0004325" + "HP:0000076", + "UBERON:0009856", + "UBERON:0000477", + "UPHENO:0002377" ], "has_phenotype_closure_label": [ - "abnormal anatomical entity morphology in the manus", - "segment of manus", - "Proximal placement of thumb", - "digit 1 or 5", - "manual digit", - "manual digit 1 plus metapodial segment", - "deviation of manual digit", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 1 morphology", - "multi-limb segment region", - "pectoral complex", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal arm", - "abnormal manus morphology", - "upper limb segment", - "abnormal manus", - "skin of eyelid", - "skin of head", - "head or neck skin", - "abnormal skin of face morphology", - "upper eyelid", - "epicanthal fold", - "zone of skin", - "calcareous tooth", - "Abnormality of dental morphology", - "increased size of the calcareous tooth", - "Macrodontia", - "tooth-like structure", - "decreased width of the secondary palate", - "abnormal secondary palate morphology", - "Abnormal palate morphology", - "abnormal roof of mouth morphology", - "external naris", - "abnormal external naris", - "Anteverted nares", - "Abnormal nostril morphology", + "number of anatomical enitites of type tissue phenotype", + "absent tissue in the multicellular organism", + "absent ectoderm-derived structure in the brain ventricle/choroid plexus", + "Abnormal septum pellucidum morphology", + "absent septum pellucidum", + "lamina", + "gray matter", + "absent multicellular anatomical structure in the brain ventricle/choroid plexus", + "absent lamina", + "lamina phenotype", + "absent ectoderm-derived structure in the brain ventricle", + "absent tissue", + "septum pellucidum phenotype", + "absent material anatomical entity in the brain ventricle", + "absent anatomical entity in the brain ventricle", + "gray matter of telencephalon", + "Renal hypoplasia", + "Renal hypoplasia/aplasia", + "kidney hypoplasia", + "anatomical entity height phenotype", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Short stature", - "delayed biological_process", - "delayed growth", - "abnormal size of multicellular organism", - "vestibular behavior", - "somatic sensation related behavior", - "sensation behavior", - "abnormally decreased rate of behavior process", - "cognitive behavior", - "decreased motor coordination", - "perception behavior by means", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "skin of face", - "regional part of brain", - "Eumetazoa", - "postcranial axial skeleton", - "cellular organisms", - "thoracic segment of trunk", - "abnormal digit", "decreased size of the multicellular organism", - "Abnormality of skull size", - "skeleton", - "secondary palate", - "organism", - "Abnormal hand morphology", - "Metazoa", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "abnormal forehead", - "anatomical collection", - "All", - "Abnormal nervous system morphology", - "abnormal limb bone", - "abnormal nervous system morphology", - "abnormal central nervous system morphology", - "multi-tissue structure", - "root", - "appendage", - "Abnormal facial shape", - "cognition", - "decreased size of the anatomical entity", - "multicellular organismal process", - "obsolete cellular aromatic compound metabolic process", - "anatomical row", - "Neurodevelopmental abnormality", - "Gonadal neoplasm", - "abnormality of anatomical entity physiology", - "Abnormal nervous system physiology", - "Aplasia/Hypoplasia affecting the eye", - "Deviation of the thumb", - "abnormal dentition", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "Abnormal cartilage morphology", - "abnormal behavior", - "internal genitalia", - "cellular metabolic process", - "simple eye", - "behavior process", - "abnormal behavior process", - "abnormal nose", - "abnormal size of anatomical entity", - "sensory system", - "gonad", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "Long eyelashes", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia involving the nose", - "skeletal element", - "cartilage tissue", - "nose", - "Decreased head circumference", - "head connective tissue", - "nasal cartilage", - "Abnormality of connective tissue", - "skeletal system", - "Abnormal upper lip morphology", - "Abnormality of mental function", - "ala of nose", - "manual digitopodium region", - "Abnormality of coordination", - "Abnormality of blood and blood-forming tissues", - "Abnormal morphology of the nasal alae", - "Abnormal myeloid cell morphology", - "abnormal craniocervical region", - "abnormal mouth", - "abnormal midface morphology", + "size of multicellular organism phenotype", + "absent brain commissure", + "number of anatomical enitites of type axon tract phenotype", + "absent corpus callosum", + "Thin corpus callosum", + "cerebral subcortex", + "cerebral hemisphere morphology phenotype", + "number of anatomical enitites of type nervous system commissure phenotype", + "absent nervous system commissure", + "corpus callosum morphology phenotype", + "number of anatomical enitites of type intercerebral commissure phenotype", + "Aplasia/Hypoplasia of the corpus callosum", + "absent ectoderm-derived structure", + "number of anatomical enitites of type tract of brain phenotype", + "white matter", + "number of anatomical enitites of type commissure of telencephalon phenotype", + "tract of brain phenotype", + "absent anatomical entity in the nervous system", + "tract of brain", + "nervous system commissure", + "Abnormal cerebral white matter morphology", + "absent material anatomical entity in the brain", + "axon tract phenotype", + "commissure of telencephalon phenotype", + "absent neuron projection bundle", + "absent central nervous system cell part cluster", + "absent axon tract", + "absent commissure of telencephalon", + "Agenesis of corpus callosum", + "absent anatomical entity in the brain", + "cerebral hemisphere white matter", + "absent dorsal telencephalic commissure", + "brain commissure phenotype", + "Aplasia/Hypoplasia of the cerebral white matter", + "absent multi cell part structure", + "number of anatomical enitites of type dorsal telencephalic commissure phenotype", + "absent anatomical entity in the central nervous system", + "white matter of forebrain", + "Abnormal corpus callosum morphology", + "number of anatomical enitites of type central nervous system cell part cluster phenotype", + "commissure of telencephalon", + "Abnormal cerebral subcortex morphology", + "number of anatomical enitites of type multi cell part structure phenotype", + "shape kidney", + "3-D shape anatomical entity", + "Abnormal localization of kidney", + "U-shaped anatomical entity", + "Horseshoe kidney", + "pituitary gland", + "Abnormality of the hypothalamus-pituitary axis", + "reproductive gland morphology phenotype", + "reproductive structure", + "gland of diencephalon", + "reproductive system", + "hypothalamus-pituitary axis", + "decreased size of the gland", + "reproductive system phenotype", + "decreased size of the reproductive gland", + "reproductive organ", + "Abnormality of the diencephalon", + "reproductive organ phenotype", + "decreased size of the reproductive structure", + "Abnormal endocrine morphology", + "reproductive structure phenotype", + "size of pituitary gland phenotype", + "diencephalon morphology phenotype", + "reproductive system morphology phenotype", + "Small pituitary gland", + "Abnormality of the genital system", + "decreased size of the gland of diencephalon", + "Abnormal pituitary gland morphology", + "endocrine system morphology phenotype", + "reproductive gland phenotype", + "decreased size of the pituitary gland", + "kidney", + "kidney morphology phenotype", + "abdomen element phenotype", + "abdomen", + "kidney phenotype", + "axon tract", + "decreased size of the autopod endochondral element", + "decreased length of manual digit bone", + "manual digit 1 metacarpus endochondral element phenotype", + "decreased size of the phalanx endochondral element", + "manual digit bone phenotype", + "manual digit phalanx endochondral element phenotype", + "cell layer phenotype", + "Short phalanx of the thumb", + "Abnormal finger phalanx morphology", + "Abnormal metacarpal morphology", + "phalanx morphology phenotype", + "metacarpal bone of digit 1 phenotype", + "decreased length of limb long bone", + "decreased size of the autopod bone", + "manus bone phenotype", + "manual digit 1 phalanx endochondral element phenotype", + "metapodium bone phenotype", + "decreased size of the forelimb long bone", + "metapodium bone 1", + "manual digitopodium bone", + "manual digit 1 phalanx", + "metapodium region", + "Abnormal 1st metacarpal morphology", + "phalanx phenotype", + "decreased size of the digitopodium bone", + "decreased length of manual digitopodium bone", + "autopod endochondral element", + "metacarpus skeleton", + "tissue phenotype", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "aplasia or hypoplasia of manual digit 1 phalanx", + "decreased length of forelimb long bone", + "Abnormality of thumb phalanx", + "phalanx endochondral element", + "autopod bone", + "manual digit metacarpus endochondral element", + "manual digit 1 digitopodial skeleton", + "decreased length of phalanx", + "Aplasia/Hypoplasia involving the metacarpal bones", + "digitopodium bone phenotype", + "phalanx", + "digitopodium bone", + "manus bone", + "metacarpal bone", + "manual digit 1 metacarpus endochondral element", + "decreased length of metacarpal bone", + "manual digit 1 phalanx phenotype", + "phalanx endochondral element phenotype", + "acropodial skeleton", + "metapodium bone 1 phenotype", + "skeleton of digitopodium", + "individual digit of digitopodial skeleton", + "decreased length of manus bone", + "aplasia or hypoplasia of metacarpal bone", + "incomplete closing of the interventricular septum", + "interventricular septum", + "interventricular septum morphology phenotype", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "Abnormal cardiac ventricle morphology", + "Anemia", + "Abnormal erythroid lineage cell morphology", + "erythrocyte morphology phenotype", + "erythroid lineage cell", + "Abnormal skin morphology", + "increased biological_process", + "Irregular hyperpigmentation", + "pigmentation", + "Abnormality of skin pigmentation", + "Hypermelanotic macule", + "Hyperpigmentation of the skin", + "skin of body morphology phenotype", + "pigmentation phenotype", + "Cafe-au-lait spot", + "increased biological_process in skin of body", + "integumental system", + "cerebral hemisphere gray matter", + "skin of body", + "Bone marrow hypocellularity", + "artery morphology phenotype", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "Abnormality of multiple cell lineages in the bone marrow", + "blood vessel phenotype", + "coronary vessel morphology phenotype", + "incomplete closing of the vessel", + "incomplete closing of the heart blood vessel", + "vascular system morphology phenotype", + "incomplete closing of the systemic artery", + "incomplete closing of the ductus arteriosus", + "embryonic cardiovascular system", + "anatomical cluster phenotype", + "great vessel of heart", + "trunk blood vessel phenotype", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "arterial system", + "blood vessel", + "vessel phenotype", + "arterial blood vessel phenotype", + "heart vasculature", + "blood vasculature", + "incomplete closing of the artery", + "decreased size of the phalanx", + "incomplete closing of the thoracic segment blood vessel", + "thoracic segment blood vessel", + "conceptus", + "vasculature", + "coronary vessel", + "outflow tract", + "Patent ductus arteriosus", + "multicellular anatomical structure morphology in the heart phenotype", + "vasculature phenotype", + "decreased length of metapodium bone 1", + "ureter", + "upper urinary tract", + "genitourinary system phenotype", + "upper urinary tract phenotype", + "mesoderm-derived structure physiology phenotype", + "renal system", + "lower urinary tract", + "absent mesoderm-derived structure in the forelimb", + "appendage girdle complex", + "subdivision of head", + "absent bone of appendage girdle complex", + "diencephalon phenotype", + "Abnormal platelet morphology", + "absent organ", + "absent anatomical structure in the brain ventricle/choroid plexus", + "decreased size of the organ", + "absent endochondral element in the forelimb", + "absent forelimb bone in the limb", + "Vertebral fusion", + "absent skeletal element in the limb", + "Abnormality of the thyroid gland", + "absent anatomical entity in the forelimb", + "absent endochondral bone in the limb", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "absent mesoderm-derived structure", + "number of anatomical enitites of type mesoderm-derived structure phenotype", + "absent anatomical entity in the brain ventricle/choroid plexus", + "absent anatomical structure in the forelimb", + "blood vessel morphology phenotype", + "absent endochondral element in the limb", + "pituitary gland phenotype", + "systemic arterial system", + "Abnormal cerebral morphology", + "Aplasia involving bones of the upper limbs", + "decreased length of manual digit phalanx endochondral element", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "organ physiology phenotype", + "absent material anatomical entity", + "cerebellum morphology phenotype", + "cerebral hemisphere white matter morphology phenotype", + "Chiari malformation", + "cardiac septum morphology phenotype", + "subdivision of organism along appendicular axis", + "agenesis of anatomical entity", + "decreased length of endochondral element", + "absent limb bone in the limb", + "Abnormality of the integument", + "cardiac atrium", + "absent forelimb bone in the forelimb", + "lateral structure physiology phenotype", + "decreased size of the structure with developmental contribution from neural crest", + "material anatomical entity physiology phenotype", + "absent anatomical structure in the skeletal system", + "duodenum", + "segment of autopod", + "lateral structure phenotype", + "decreased size of the manus bone", + "absent limb bone in the forelimb", + "absent forelimb bone", + "neural crest-derived structure, asymmetrically curved phenotype", + "reproductive gland", + "erythrocyte", + "anatomical entity physiology phenotype", + "absent mesoderm-derived structure in the multicellular organism", + "regulation of biological process phenotype", + "structure with developmental contribution from neural crest physiology phenotype", + "absent cell layer", + "corpus callosum", + "subdivision of skeletal system", + "decreased length of manual digit 1 phalanx", + "absent arm bone in the forelimb", + "cardiac atrium morphology phenotype", + "circulatory organ", + "forelimb long bone phenotype", + "cardiac septum phenotype", + "interatrial septum", + "number of anatomical enitites of type corpus callosum phenotype", + "subdivision of head phenotype", + "opening of the anatomical entity", + "cell phenotype", + "incomplete closing of the anatomical structure", + "Congenital malformation of the great arteries", + "incomplete closing of the material anatomical entity", + "integument", + "subdivision of skeletal system phenotype", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "incomplete closing of the interatrial septum", + "Abnormality of body height", + "decreased size of the mesoderm-derived structure", + "organism substance", + "absent multicellular anatomical structure in the brain ventricle", + "gray matter of forebrain", + "heart plus pericardium", + "septum phenotype", + "incomplete closing of the anatomical entity", + "absent long bone in the forelimb", + "manual digit 1 morphology phenotype", + "septum of telencephalon", + "cardiovascular system", + "septum", "paired limb/fin segment", - "surface structure", - "abnormal size of eyeball of camera-type eye", - "palpebral fissure", - "non-connected functional system", - "Abnormal nasal cartilage morphology", - "set of upper jaw teeth", - "eyelash", - "Abnormality of the nose", - "abnormal face", - "abnormal snout morphology", - "chest", - "abnormal head morphology", - "Abnormal oral cavity morphology", + "Colpocephaly", + "anatomical entity morphology in the heart phenotype", + "hematopoietic system phenotype", + "cranial nerve II morphology phenotype", "Abnormality of head or neck", - "abnormal reproductive system", - "olfactory organ", - "decreased length of anatomical entity in independent continuant", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "zone of organ", - "tissue", - "abnormal limb bone morphology", - "response to stimulus", - "Abnormality of the eye", - "mouth", - "abnormal external nose morphology", - "entire sense organ system", - "continuant", - "decreased growth", - "decreased size of the anatomical entity in the independent continuant", - "abnormal nasal cartilage morphology", - "nasal cartilage hypoplasia", - "structure with developmental contribution from neural crest", - "Language impairment", - "abnormal cartilage element morphology", - "anatomical line", - "anatomical entity hypoplasia in face", - "organ system subdivision", - "decreased length of palpebral fissure", - "erythrocyte", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "head", + "Abnormality of the face", + "decreased size of the material anatomical entity in the pectoral complex", + "absent forelimb long bone in the forelimb", + "absent anatomical structure in the multicellular organism", + "craniofacial/craniocervical phenotype", + "serotonin secreting cell", + "eyeball of camera-type eye", + "alimentary part of gastrointestinal system morphology phenotype", + "decreased length of forelimb zeugopod bone", + "posterior segment of eyeball", + "All", "central nervous system", - "abnormal connective tissue", "Abnormality of limb bone", - "Deviation of finger", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "Microphthalmia", - "protein-containing material entity", - "abnormal cell morphology", - "connective tissue", - "abnormal skeletal system morphology", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "main body axis", - "regulation of biosynthetic process", - "hair of head", - "nucleic acid metabolic process", - "abnormal brain morphology", - "abnormal cartilage tissue morphology", + "abdomen element", + "homeostatic process phenotype", + "regional part of brain", + "Abnormal fundus morphology", + "Abnormal atrial septum morphology", + "decreased length of limb endochondral element", + "metencephalon morphology phenotype", + "cervical vertebra", + "anterior segment of eyeball morphology phenotype", + "Abnormal anterior eye segment morphology", + "limb phenotype", + "cardiovascular system morphology phenotype", + "fused anatomical entity and bony vertebral centrum", + "axial skeletal system", + "subdivision of vertebral column", + "absent manual digit", + "decreased length of manual digit 1 phalanx endochondral element", + "forelimb zeugopod bone", + "head phenotype", + "nervous system morphology phenotype", + "ectoderm-derived structure physiology phenotype", + "manual digit 1 or 5", + "developmental process", + "negative regulation of metabolic process", + "Optic disc pallor", + "head morphology phenotype", + "forelimb skeleton", + "hormone secretion", + "Triangular face", + "incomplete closing of the blood vessel", + "myeloid cell", + "number of anatomical enitites of type ectoderm-derived structure phenotype", + "multicellular anatomical structure, asymmetrically curved phenotype", + "decreased size of the skeletal element", + "vertebral element", + "camera-type eye morphology phenotype", + "sense organ physiology phenotype", + "Atrial septal defect", + "tunica fibrosa of eyeball", + "Morphological central nervous system abnormality", + "organ component layer", + "body proper", + "Abnormal joint morphology", + "Abnormal optic disc morphology", + "brain ventricle", + "regional part of nervous system phenotype", + "systemic artery phenotype", + "Finger aplasia", + "abdominal segment element phenotype", + "visual system", + "mesoderm-derived structure morphology in the heart phenotype", + "number of anatomical enitites of type endochondral bone phenotype", + "Abnormality of the nervous system", + "head", + "decreased size of the endocrine gland", + "Metazoa", + "Abnormal hand morphology", + "cranial neuron projection bundle", + "negative regulation of macromolecule biosynthetic process", + "multi-tissue structure", + "limb long bone phenotype", + "bodily fluid", + "simple eye", + "face morphology phenotype", + "duodenum phenotype", + "Abnormal eye morphology", + "absent tract of brain", + "subdivision of tube phenotype", + "closing of the multicellular anatomical structure", + "organ system subdivision", + "orbital region", + "Abnormal intestine morphology", + "optic disc", + "aplasia or hypoplasia of phalanx of manus", + "multicellular anatomical structure atresia", + "excretory system", + "Abnormal digestive system morphology", + "skull phenotype", + "decreased system process", + "endoderm-derived structure atresia", + "absent bone of appendage girdle complex in the forelimb", + "pectoral appendage", + "absent skeletal element in the forelimb", + "regulation of gene expression", + "digestive tract", + "anatomical system atresia", + "Abnormal ureter physiology", + "anatomical structure physiology phenotype", + "trunk", + "retina", + "sac phenotype", "process", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "eyelid", - "eye", - "scalp", - "musculoskeletal system", - "abnormal cellular metabolic process", - "Coarse facial features", - "material anatomical entity", - "abnormality of nervous system physiology", - "internal female genitalia", - "Abnormal cellular physiology", + "Gastrointestinal atresia", + "tube", + "subdivision of digestive tract phenotype", + "limb bone", + "Fused cervical vertebrae", "Abnormality of the head", - "organic substance metabolic process", - "chromatin organization", - "Delayed speech and language development", - "Abnormality of limbs", - "abnormal metabolic process", - "regulation of macromolecule metabolic process", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "Growth delay", - "abnormal biological_process", - "Prominent nasal bridge", - "protein-DNA complex organization", - "anatomical structure", + "heart", + "anatomical conduit", + "Aplasia/Hypoplasia of the 1st metacarpal", + "anatomical structure morphology in the heart phenotype", + "Intestinal atresia", + "arm bone", + "Abnormal ventricular septum morphology", + "closing of the material anatomical entity", + "circulatory system", + "Abnormal small intestine morphology", + "organ part phenotype", + "decreased length of autopodial extension", + "closing of the anatomical entity", + "interatrial septum morphology phenotype", + "formed multi-tissue structure", + "alimentary part of gastrointestinal system phenotype", + "subdivision of organism along main body axis", + "Reduced circulating growth hormone concentration", + "small intestine morphology phenotype", + "multicellular organismal process phenotype", + "ureter physiology phenotype", + "closing of the anatomical system", + "decreased size of the arm bone", + "metacarpus region", + "formed ectoderm-derived structure", + "Abnormality of the digestive system", + "intercerebral commissure phenotype", + "Abnormality of the upper limb", + "alimentary part of gastrointestinal system", + "Atresia of the external auditory canal", + "duodenum morphology phenotype", + "pelvic region of trunk", + "alimentary part of gastrointestinal system atresia", + "thoracic segment organ", + "absent forelimb long bone", + "incomplete closing of the coronary vessel", + "nervous system process phenotype", + "Aplasia/hypoplasia involving the skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "absent digit", + "absent arm bone", + "decreased length of forelimb bone", + "long bone phenotype", + "Aplasia/hypoplasia involving forearm bones", "Eukaryota", "negative regulation of cellular metabolic process", - "abnormal ala of nose morphology", - "Blepharophimosis", - "Intellectual disability", + "limb morphology phenotype", + "fused anatomical entity and vertebra", + "biological regulation phenotype", + "central nervous system cell part cluster", + "forebrain morphology phenotype", + "decreased length of forelimb endochondral element", + "absent anatomical structure", + "lateral structure", + "absent limb long bone in the forelimb", + "intestine morphology phenotype", + "arm", + "number of leukocyte phenotype", + "thoracic segment of trunk", + "number of anatomical enitites of type material anatomical entity phenotype", + "cellular organisms", + "external acoustic meatus phenotype", + "Abnormal neutrophil count", + "erythroid lineage cell morphology phenotype", + "limb segment phenotype", + "number of cell phenotype", + "compound organ physiology phenotype", + "decreased size of the multicellular anatomical structure", + "organism", + "irregular bone", + "decreased length of bone of pectoral complex", + "multicellular organism height phenotype", + "forelimb long bone", + "Abnormal posterior eye segment morphology", + "forelimb morphology phenotype", + "Abnormality of the middle ear", + "limb segment", + "decreased size of the anatomical structure in the pectoral complex", + "manual digitopodium region", + "decreased length of digit", + "hematopoietic cell", + "eyeball of camera-type eye phenotype", + "decreased length of digit 1 or 5", + "regulation of biological quality phenotype", + "incomplete closing of the cardiac septum", + "Astigmatism", + "organ subunit", + "anatomical structure", + "absent material anatomical entity in the brain ventricle/choroid plexus", + "ectoderm-derived structure, asymmetrically curved phenotype", + "radius bone hypoplasia", + "systemic artery morphology phenotype", + "decreased biological_process", + "anatomical entity morphology phenotype", + "decreased length of endochondral bone", + "digestive system", + "decreased length of long bone", + "curved anatomical entity", + "Abnormality of the gastrointestinal tract", + "programmed DNA elimination", + "arm bone phenotype", + "anatomical entity morphology in the appendage girdle complex phenotype", + "bone of free limb or fin phenotype", + "musculature of body", + "decreased size of the multicellular anatomical structure in the pectoral complex", + "vertebra", + "paired limb/fin phenotype", + "tissue", + "forelimb zeugopod bone morphology phenotype", + "concave 3-D shape anatomical entity", + "absent bone of free limb or fin in the forelimb", + "continuant", + "multicellular anatomical structure phenotype", + "decreased number of granulocyte", + "neutrophil", + "Abnormal optic nerve morphology", + "decreased size of the forelimb endochondral element", + "independent continuant", + "Abnormal granulocyte morphology", + "subdivision of tube atresia", + "absent limb long bone", + "digestive system element phenotype", + "anatomical entity atresia", + "telencephalic ventricle", + "Abnormal retinal morphology", + "decreased length of material anatomical entity", + "sensory perception of mechanical stimulus", + "digestive system morphology phenotype", + "structure with developmental contribution from neural crest, asymmetrically curved phenotype", + "absent bone of pectoral complex in the limb", + "decreased number of myeloid cell", + "trunk region element", + "decreased size of the manual digit", + "endoderm-derived structure", + "Abnormal morphology of the great vessels", + "pectoral complex", + "Short metacarpal", "Abnormality of globe size", - "abnormal face morphology", - "pectoral appendage", - "Abnormality of skin adnexa morphology", - "regulation of gene expression", - "obsolete cellular nitrogen compound metabolic process", - "primary subdivision of skull", - "abnormally protruding anatomical entity", - "quality", - "Abnormal skull morphology", - "regulation of cellular metabolic process", - "Abnormality of limb bone morphology", - "abnormal forebrain morphology", - "Abnormal external nose morphology", + "decreased number of hematopoietic cell", + "bone element", + "leukocyte", + "material entity", + "long bone", + "decreased sensory perception of mechanical stimulus", + "negative regulation of biosynthetic process", + "decreased multicellular organism development", + "hemolymphoid system", + "multi-limb segment region phenotype", + "absent bone element", + "long bone morphology phenotype", + "incomplete closing of the mesoderm-derived structure", + "decreased size of the forelimb zeugopod bone", + "cellular process", + "musculature phenotype", + "sense organ", + "decreased length of phalanx endochondral element", + "absent material anatomical entity in the forelimb", + "Neutropenia", + "decreased height of the anatomical entity", + "absent multicellular anatomical structure in the limb", + "Abnormality of the eye", + "hindbrain", + "absent bone of appendage girdle complex in the limb", + "vertebra phenotype", + "renal system morphology phenotype", + "cardiac ventricle morphology phenotype", + "Abnormal granulocyte count", + "organ phenotype", + "Forearm undergrowth", + "Short 1st metacarpal", + "decreased size of the anatomical entity", + "sensory perception of sound", + "Abnormal forearm bone morphology", + "bone of free limb or fin", + "main body axis", + "myeloid leukocyte phenotype", + "increased qualitatively biological_process", "forebrain", - "Abnormal nasal morphology", - "negative regulation of macromolecule biosynthetic process", - "lateral structure", - "regulation of biological process", - "Abnormality of speech or vocalization", - "abnormal DNA metabolic process", - "decreased length of anatomical entity", - "nasal bridge", - "abnormal nervous system", - "Neoplasm", - "Ovarian neoplasm", - "Underdeveloped nasal alae", - "abnormal cellular process", - "Abnormal communication", - "anatomical entity hypoplasia", - "manual digit 1 or 5", - "negative regulation of metabolic process", - "outer epithelium", - "cellular component organization", - "system process", + "absent radius endochondral element in the forelimb", + "radius bone morphology phenotype", + "craniocervical region morphology phenotype", + "axon tract morphology phenotype", + "vascular system", + "aplasia or hypoplasia of skeleton", + "ocular fundus", + "neutrophil phenotype", + "organism subdivision", + "integument phenotype", + "vision/eye phenotype", + "Abnormal bone marrow cell morphology", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Phenotypic abnormality", + "myeloid leukocyte", + "limb endochondral element phenotype", + "granulocyte", + "cardiac chamber", + "eye physiology phenotype", + "decreased qualitatively sensory perception of mechanical stimulus", + "immune system morphology phenotype", + "dorsal telencephalic commissure", + "skeletal system phenotype", + "dorsal telencephalic commissure morphology phenotype", + "digit plus metapodial segment", + "blood cell phenotype", + "decreased number of leukocyte", + "transport", + "absent limb bone", + "limb endochondral element", + "phenotype", + "delayed growth", + "Abnormal hindbrain morphology", "Abnormal cell morphology", - "cranial skeletal system", - "increased length of the epicanthal fold", - "behavior", - "skeleton of upper jaw", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "entity", - "subdivision of skeletal system", - "Abnormal hair pattern", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "olfactory system", - "macromolecule metabolic process", - "Neoplasm of the genitourinary tract", - "obsolete nitrogen compound metabolic process", - "abnormal organelle organization", + "closing of the ectoderm-derived structure", + "simple eye physiology phenotype", + "subdivision of digestive tract", + "fused skeletal joint and anatomical entity", + "number of anatomical enitites of type lamina phenotype", + "regulation of cellular biosynthetic process phenotype", + "cell layer", + "viscus", + "pelvic region element phenotype", + "Short forearm", + "nitrogen compound transport phenotype", + "bone of dorsum", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "anatomical conduit atresia", + "decreased length of digitopodium bone", + "regulation of cellular metabolic process phenotype", + "decreased number of cell", + "decreased length of anatomical entity", + "bone of pectoral complex", + "endocrine system", + "immune system", + "chorioretinal region", + "structure with developmental contribution from neural crest phenotype", + "material anatomical entity", + "nucleate cell", + "Abnormal appendicular skeleton morphology", + "thyroid gland", + "Abnormal myeloid leukocyte morphology", + "number of anatomical enitites of type endochondral element phenotype", + "absent multicellular anatomical structure", + "endochondral bone phenotype", + "Abnormality of the ear", + "cardiac septum", + "Cerebellar malformation", + "anucleate cell", + "shape of continuant phenotype", + "tube phenotype", + "Opisthokonta", + "eye", + "compound organ", + "skeleton of pectoral complex", + "specifically dependent continuant", + "decreased length of arm bone", + "thoracic cavity element", + "retina morphology phenotype", + "Thrombocytopenia", + "great vessel of heart morphology phenotype", + "decreased functionality of the anatomical structure", + "anatomical structure mass phenotype", "regulation of macromolecule biosynthetic process", + "anatomical entity", + "decreased qualitatively biological_process", + "ear phenotype", + "Abnormality of refraction", + "number of anatomical enitites of type skeletal element phenotype", + "peptide secretion", + "absent multicellular anatomical structure in the multicellular organism", + "sensory perception of mechanical stimulus phenotype", + "disconnected anatomical group", "multicellular organism", - "hematopoietic system", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "female reproductive system", - "endochondral element", - "metabolic process", - "Abnormality of metabolism/homeostasis", - "protein-containing complex organization", - "deviation of anatomical entity towards the middle", - "Abnormality of the palpebral fissures", - "abnormal spatial pattern of anatomical entity", - "abnormal response to stimulus", - "sense organ", - "abnormal skin epidermis morphology", - "Abnormal skeletal morphology", - "abnormally decreased rate of motor coordination", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal craniocervical region morphology", + "skeleton", + "trunk blood vessel", + "absent radius endochondral element", + "Eumetazoa", + "number of hematopoietic cell phenotype", + "face phenotype", + "Abnormality of the bladder", + "closing of the anatomical structure", + "dorsum", + "Abnormal leukocyte count", + "decreased functionality of the endocrine gland", + "Abnormal duodenum morphology", + "cavitated compound organ", + "incomplete closing of the septum", + "motile cell", + "metacarpal bone phenotype", + "skeletal system", + "sensory system", + "cervical vertebra phenotype", + "multicellular anatomical structure, curved phenotype", + "multicellular organism morphology phenotype", + "Abnormal cellular immune system morphology", + "eye phenotype", + "urinary bladder physiology phenotype", + "urinary bladder phenotype", + "absent intercerebral commissure", + "system", + "regulation of gene expression phenotype", + "decreased size of the limb long bone", + "Abnormal cardiac atrium morphology", + "bone marrow", + "fused vertebra and bony vertebral centrum", + "Abnormality of the musculoskeletal system", + "multi-tissue structure phenotype", + "Microcephaly", + "regulation of metabolic process phenotype", + "decreased number of anatomical structure", + "material anatomical entity atresia", + "bone cell", + "skeletal system morphology phenotype", + "fused cervical vertebra and anatomical entity", + "Patent foramen ovale", + "heart morphology phenotype", + "decreased functionality of the structure with developmental contribution from neural crest", + "closing of the subdivision of digestive tract", + "negative regulation of biological process phenotype", + "granulocyte morphology phenotype", + "taxon specific phenotype", + "Abnormal renal morphology", + "radius endochondral element", + "zeugopod", + "anatomical system phenotype", + "regulation of biosynthetic process phenotype", + "skeletal element", + "metapodium bone", + "Abnormality of limbs", + "craniocervical region phenotype", + "cornea morphology phenotype", + "duodenum atresia", + "Localized skin lesion", + "musculature", + "Aplasia/Hypoplasia of the phalanges of the hand", + "decreased number of neutrophil", + "digestive system phenotype", + "number of anatomical enitites of type granulocyte phenotype", "Abnormal cellular phenotype", - "anatomical line between pupils", - "independent continuant", - "abnormal growth", - "cartilage element", - "organic cyclic compound metabolic process", - "reproductive system", - "segment of autopod", - "nucleobase-containing compound metabolic process", - "Abnormal scalp morphology", - "Abnormality of the female genitalia", - "body proper", - "decreased height of the anatomical entity", - "regulation of cellular process", + "multi-limb segment region", + "ventricle of nervous system", + "absent organ in the forelimb", + "decreased size of the bone element", + "decreased length of autopod bone", + "subdivision of digestive tract atresia", + "quality", + "central nervous system cell part cluster phenotype", + "anatomical collection phenotype", + "vessel", + "decreased size of the sense organ", + "anatomical system", + "decreased size of the anatomical entity in the pectoral complex", + "increased pigmentation", + "Abnormal skeletal morphology", + "forelimb", + "decreased number of anatomical entity", + "Abnormal forebrain morphology", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "forelimb endochondral element phenotype", + "Aplasia/Hypoplasia involving the central nervous system", + "organ system subdivision phenotype", + "simple eye phenotype", + "growth hormone secretion phenotype", + "gland of diencephalon phenotype", + "anatomical wall", + "decreased length of autopod endochondral element", + "absent bone of free limb or fin", + "bone of appendage girdle complex", + "skin of body phenotype", + "ectoderm-derived structure", + "decreased length of limb bone", + "secretion phenotype", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "formed regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Abnormality of body weight", + "mesoderm-derived structure", + "absent organ in the multicellular organism", + "multicellular organismal process", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormality of the hand", + "absent forelimb endochondral element", + "skeleton phenotype", + "Hypoplasia of the radius", + "decreased size of the digit", + "zeugopodial skeleton", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "forelimb bone", + "absent anatomical structure in the brain ventricle", + "camera-type eye", + "Abnormality of the orbital region", + "decreased length of skeletal element", + "absent multicellular anatomical structure in the brain", + "absent forelimb endochondral element in the forelimb", + "endocrine gland physiology phenotype", + "entire sense organ system", + "absent bone of pectoral complex", + "asymmetrically curved cornea", + "Synostosis of joints", + "Aplasia involving bones of the extremities", + "nervous system phenotype", + "endocrine gland morphology phenotype", + "Macule", + "anatomical collection", + "cranial nerve II", + "regulation of macromolecule metabolic process phenotype", + "Aplasia involving forearm bones", + "skeleton of limb", + "Abnormality of the urinary system", + "closing of the subdivision of tube", + "neck morphology phenotype", + "cardiovascular system phenotype", + "manual digit phalanx endochondral element", + "photoreceptor array", + "Abnormality of the immune system", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Short long bone", + "decreased length of bone of free limb or fin", + "number of anatomical enitites of type brain commissure phenotype", + "forelimb endochondral element", + "limb bone phenotype", + "secretory cell", + "anatomical entity morphology in the skeleton of manus phenotype", + "decreased anatomical structure development", + "anatomical structure phenotype", + "forelimb zeugopod skeleton", + "decreased size of the bone of pectoral complex", + "formed regional part of nervous system", + "Abnormal erythrocyte morphology", + "paired limb/fin segment phenotype", + "phalanx of manus phenotype", + "decreased size of the bone of free limb or fin", + "decreased length of anatomical structure", + "absent bone element in the forelimb", + "ocular surface region morphology phenotype", + "white matter of telencephalon", + "decreased size of the limb bone", + "Abnormal leukocyte morphology", + "axial skeleton plus cranial skeleton", + "mesoderm-derived structure phenotype", + "external ear", + "decreased length of bone of appendage girdle complex", + "aplastic forelimb zeugopod bone", + "glandular system", + "subdivision of trunk", + "Abnormal thumb morphology", + "fused anatomical entity and anatomical entity", + "decreased size of the long bone", + "Absent forearm bone", + "decreased size of the material anatomical entity", + "forelimb zeugopod bone hypoplasia", + "Abnormal cerebellum morphology", + "anterior region of body", + "decreased length of manual digit 1", + "endochondral bone", + "endochondral element phenotype", + "subdivision of skeleton", + "autopod bone phenotype", + "Aplasia/Hypoplasia of the radius", + "decreased size of the autopodial extension", "manus", - "abnormal eyelid morphology", - "Abnormal digit morphology", - "Abnormality of the face", - "ovary", + "number of anatomical enitites of type anatomical entity phenotype", + "sensory perception", + "phenotypic effect", + "size of anatomical entity phenotype", + "digestive system element", + "decreased length of multicellular anatomical structure", + "radius bone phenotype", + "decreased length of mesoderm-derived structure", + "formed material anatomical entity", + "Abnormal upper limb bone morphology", + "negative regulation of macromolecule metabolic process", + "cell", + "Abnormality of the curvature of the cornea", + "limb", + "material anatomical entity phenotype", + "anatomical entity morphology in the pectoral complex phenotype", + "Abnormal morphology of the radius", + "decreased size of the limb endochondral element", + "acropodium region", + "signal release phenotype", + "anatomical structure atresia", + "organ part atresia", + "upper limb segment phenotype", + "decreased length of bone element", + "multi cell part structure", + "limb long bone morphology phenotype", + "aplasia or hypoplasia of corpus callosum", + "anatomical entity length phenotype", + "decreased qualitatively multicellular organism development", + "digit", + "Abnormality of the kidney", + "orbital region phenotype", + "appendage phenotype", + "organism subdivision phenotype", + "forelimb bone phenotype", + "sense organ phenotype", + "localization phenotype", + "decreased size of the forelimb bone", + "cerebral hemisphere", + "bone of pectoral complex phenotype", + "phalanx of manus", + "number of anatomical enitites of type bone element phenotype", + "decreased size of the bone of appendage girdle complex", + "anatomical entity hypoplasia", + "endochondral element", + "Aplasia/hypoplasia involving bones of the extremities", + "small intestine phenotype", + "appendicular skeletal system", + "forelimb zeugopod morphology phenotype", + "Abnormality of the cervical spine", + "Upper limb undergrowth", + "Abnormal immune system morphology", + "Abnormality of thrombocytes", + "manual digitopodium bone phenotype", + "limb skeleton subdivision", + "absent material anatomical entity in the skeletal system", + "skull", + "Abnormal facial shape", + "root", + "incomplete closing of the trunk blood vessel", + "decreased multicellular organismal process", + "ectoderm-derived structure atresia", + "anatomical entity phenotype", + "decreased length of organ", + "aplasia or hypoplasia of eyeball of camera-type eye", + "appendage", + "bone of pectoral complex morphology phenotype", + "decreased size of the anatomical structure", + "organ", + "anatomical entity mass phenotype", + "Decreased anatomical entity mass", + "entity", + "appendicular skeleton morphology phenotype", + "bone of appendage girdle complex phenotype", + "decreased vibrational conductance of sound to the inner ear", + "leukocyte morphology phenotype", + "skeletal element phenotype", + "fused anatomical entity and skeletal joint", + "number of anatomical enitites of type multicellular anatomical structure phenotype", + "absent limb endochondral element", + "bone element phenotype", + "vestibulo-auditory system", + "endoderm-derived structure physiology phenotype", + "material anatomical entity morphology in the heart phenotype", + "absent limb endochondral element in the limb", + "neuron projection bundle", + "absent endochondral bone in the forelimb", + "absent material anatomical entity in the multicellular organism", + "sac", + "formed cerebellum", + "autopod region phenotype", + "absent radius bone in the forelimb", + "aplastic anatomical entity", + "nitrogen compound transport", + "malformed anatomical entity", + "absent forelimb endochondral element in the limb", + "embryo development rate phenotype", + "absent long bone", + "absent material anatomical entity in the limb", + "absent bone element in the limb", + "decreased size of the reproductive organ", + "camera-type eye physiology phenotype", + "Absent radius", + "decreased multicellular anatomical structure mass", + "Abnormal size of pituitary gland", + "Growth abnormality", + "platelet", + "pelvic region element", + "Abnormal heart morphology", + "platelet phenotype", + "middle ear", + "number of platelet phenotype", + "regulation of biological process", + "decreased number of platelet", + "absent organ in the limb", + "Abnormal platelet count", + "Short finger", + "negative regulation of metabolic process phenotype", + "decreased size of the endochondral bone", + "aplasia or hypoplasia of manual digit 1", + "anatomical entity morphology in the manus phenotype", + "cornea, curved phenotype", + "cervical region of vertebral column", + "articulation", + "autopodial skeleton", + "fused vertebra and anatomical entity", + "digit 1 or 5", + "absent endochondral element", + "segmental subdivision of hindbrain", + "manual digit", + "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype", + "manual digit 1 plus metapodial segment", + "decreased length of organism subdivision", + "gland phenotype", + "brain white matter morphology phenotype", + "decreased size of the organism subdivision", + "thyroid gland physiology phenotype", + "manus morphology phenotype", + "immune system phenotype", + "digit phenotype", + "number of anatomical enitites of type anatomical structure phenotype", + "skeleton of manus", + "segment of manus", + "digitopodium region", "manual digit 1", - "Decreased body weight", + "artery phenotype", "autopodial extension", + "Decreased body weight", + "metacarpal bone of digit 1 morphology phenotype", + "decreased size of the ectoderm-derived structure", + "pectoral appendage skeleton", "regulation of metabolic process", - "forehead", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "morphological feature", - "Abnormal nasal bridge morphology", - "non-material anatomical boundary", - "erythroid lineage cell", + "nervous system commissure phenotype", + "metacarpal bone of digit 1", + "Aplasia/Hypoplasia of fingers", + "organic substance transport", + "digit 1", + "Aplasia/Hypoplasia of the cerebrum", + "absent multicellular anatomical structure in the skeletal system", + "decreased length of manual digit", + "viscus phenotype", + "regional part of nervous system", + "closing of the endoderm-derived structure", + "Aplasia/Hypoplasia of the thumb", + "septum pellucidum", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal digit morphology", + "digit morphology phenotype", + "digit 1 or 5 phenotype", + "irregular bone phenotype", + "autopodial extension phenotype", + "vertebral column phenotype", + "Abnormality of joint mobility", + "digit 1 plus metapodial segment", + "manual digit plus metapodial segment", + "oxygen accumulating cell", + "manual digit phenotype", + "decreased developmental process", + "amide transport", + "Short thumb", + "absent bone of free limb or fin in the limb", + "Abnormal myeloid cell morphology", + "segmental subdivision of nervous system", + "vertebral column morphology phenotype", + "autopod region", + "decreased length of manual digit 1 or 5", + "arterial blood vessel", + "anatomical structure development", + "appendicular skeleton", + "Short digit", + "autopod endochondral element phenotype", + "autopod region morphology phenotype", + "decreased length of digit 1", + "material anatomical entity, curved phenotype", + "endocrine gland phenotype", + "Absent septum pellucidum", + "embryo development phenotype", + "Abnormality of the ureter", + "systemic artery", + "delayed biological_process", + "brain gray matter", + "embryo development", + "hypothalamus-pituitary axis phenotype", + "decreased functionality of the gland", + "decreased qualitatively developmental process", + "decreased functionality of the multicellular anatomical structure", + "Intrauterine growth retardation", + "absent multicellular anatomical structure in the forelimb", + "neuron projection bundle phenotype", + "decreased qualitatively embryo development", + "metacarpal bone morphology phenotype", + "Abnormal ear physiology", + "decreased qualitatively anatomical structure development", + "Growth delay", + "multicellular organism development", + "developmental process phenotype", + "external acoustic meatus atresia", + "radius bone", + "growth phenotype", + "Abnormality of the endocrine system", "occurrent", - "organ", - "Dental malocclusion", - "abnormal anatomical entity", - "ectoderm-derived structure", - "Slanting of the palpebral fissure", - "abnormal female reproductive system", - "abnormal palpebral fissure", - "abnormal skull morphology", - "reproductive organ", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "orifice", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "prominent upper lip", - "abnormal zone of skin morphology", - "abnormal ovary", - "Abnormal morphology of female internal genitalia", - "subdivision of skeleton", - "endochondral bone", - "genitourinary system", - "material entity", - "female reproductive organ", - "negative regulation of biosynthetic process", - "hairline", - "Morphological central nervous system abnormality", - "increased size of the anatomical entity", - "limb", - "disconnected anatomical group", - "abnormal cell", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", + "middle ear phenotype", + "Myopia", + "anatomical structure development phenotype", + "Abnormality of the skin", + "biological_process rate phenotype", + "absent anatomical structure in the limb", + "decreased qualitatively multicellular organismal process", + "Hearing impairment", + "limb bone morphology phenotype", + "nervous system process", + "number of myeloid cell phenotype", + "ear morphology phenotype", + "multi organ part structure physiology phenotype", + "decreased qualitatively nervous system process", + "digit 1 phenotype", + "multi organ part structure", "face", - "abnormal orbital region", - "Abnormal eyelash morphology", - "axial skeletal system", - "Growth abnormality", - "upper lip", + "decreased functionality of the thyroid gland", + "ear physiology phenotype", + "multi organ part structure phenotype", + "Conductive hearing impairment", + "middle ear physiology phenotype", + "system process", + "sensory perception phenotype", + "decreased qualitatively sensory perception of sound", + "decreased length of phalanx of manus", + "decreased qualitatively system process", + "decreased sensory perception of sound", "nervous system", - "Narrow palpebral fissure", - "Abnormality of the genital system", - "abnormal phenotype by ontology source", - "Abnormal hair morphology", - "Abnormal thumb morphology", - "subdivision of trunk", - "decreased qualitatively biological_process", - "anatomical entity", - "telencephalon", - "abnormal oral cavity morphology", - "integumentary projection", - "anterior region of body", - "Congenital abnormal hair pattern", - "Abnormality of the ovary", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "reproductive structure", - "anatomical system", - "skeletal tissue", - "Cognitive impairment", - "negative regulation of cellular biosynthetic process", - "organ subunit", - "abnormal internal genitalia", - "abnormal anatomical entity morphology in the brain", - "visual system", - "Genital neoplasm", - "external integument structure", + "anatomical system physiology phenotype", + "Abnormal ear morphology", + "incomplete closing of the anatomical conduit", "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "organelle organization", + "absent organism subdivision in the multicellular organism", + "ductus arteriosus", + "sensory perception of sound phenotype", + "system process phenotype", + "decreased nervous system process", + "subdivision of organism along main body axis phenotype", + "cervical vertebra endochondral element phenotype", + "subdivision of tube", + "establishment of localization", + "cell-cell signaling", + "increased pigmentation in skin of body", + "ductus arteriosus morphology phenotype", + "cranial neuron projection bundle phenotype", + "manual digit bone", + "decreased sensory perception", + "developmental process rate phenotype", + "closing of the anatomical conduit", + "Functional abnormality of the bladder", + "ear", + "gland morphology phenotype", + "neck bone phenotype", + "metapodial skeleton", + "negative regulation of cellular biosynthetic process", + "haemolymphatic fluid", + "bone of dorsum phenotype", + "dorsal part of neck", + "Short stature", + "Abnormality of the vertebral column", + "postcranial axial skeleton", + "protein-containing material entity", + "Abnormal neck morphology", + "optic disc morphology phenotype", + "negative regulation of gene expression", + "dorsal region element phenotype", + "neck phenotype", + "Abnormality of the neck", + "trunk or cervical vertebra", + "Abnormality of the cardiovascular system", + "dorsal region element", + "Abnormal limb bone morphology", + "decreased length of neck", + "central nervous system morphology phenotype", + "cervical vertebra endochondral element", + "cervical region", + "Abnormal axial skeleton morphology", + "vertebral column", "postcranial axial skeletal system", - "paired limb/fin skeleton", - "female organism", - "abnormal internal female genitalia morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "abnormal female reproductive system morphology", - "multicellular anatomical structure", - "abnormal genitourinary system", - "abnormal scalp", - "Abnormality of brain morphology", - "craniocervical region", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormal nose morphology", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "deviation of manual digit 1", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal female reproductive organ morphology", - "digestive tract", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "forelimb", - "Abnormal forebrain morphology", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "hemolymphoid system", + "vibrational conductance of sound to the inner ear", + "bladder organ physiology phenotype", + "neck", + "vertebral element phenotype", + "aplastic manual digit 1", + "absent organism subdivision", + "diencephalon", + "absent autopodial extension", "organ part", - "abnormal ocular adnexa", - "roof of mouth", - "Abnormality of the orbital region", - "Sparse hair", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "orbital region", - "Abnormal ocular adnexa morphology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "decreased size of the eyeball of camera-type eye", - "Abnormal eyelid morphology", - "digit 1", - "Abnormal thorax morphology", - "abnormal strand of hair", - "ocular adnexa", - "camera-type eye", - "prominent anatomical entity", - "Abnormality of the hand", - "Anemia", - "increased length of the anatomical entity", - "abnormal location of anatomical entity", - "Clinodactyly", - "abnormal eyeball of camera-type eye", - "Abnormality of globe location", - "skeleton of limb", - "increased anatomical entity length in independent continuant", - "abnormal upper lip morphology", - "Hypertelorism", - "motor coordination", - "Abnormal eye morphology", - "deviation of digit towards the middle", - "abnormal anatomical entity topology in independent continuant", - "abnormal location of eyeball of camera-type eye", - "eyeball of camera-type eye", - "abnormal integument", - "decreased qualitatively growth", + "number of anatomical enitites of type organism subdivision phenotype", + "U-shaped kidney", + "skeleton of manual digitopodium", + "Absent thumb", + "absent forelimb zeugopod bone in the forelimb", + "shape anatomical entity", + "ventricular system of brain", + "structure with developmental contribution from neural crest, curved phenotype", + "renal pelvis/ureter", + "material anatomical entity, asymmetrically curved phenotype", + "primary circulatory organ", + "ectoderm-derived structure, curved phenotype", + "cornea", + "anterior segment of eyeball", + "shape cornea", + "Abnormal eye physiology", + "multicellular organism development phenotype", + "asymmetrically curved anatomical entity", + "curvature anatomical entity", + "manual digit morphology in the manus phenotype", + "neural crest-derived structure phenotype", + "fused vertebra and vertebra", + "neural crest-derived structure, curved phenotype", + "neck bone", + "intestine atresia", + "ventricular system of central nervous system", + "cornea phenotype", + "Decreased head circumference", + "regulation of macromolecule biosynthetic process phenotype", + "anatomical structure, asymmetrically curved phenotype", + "ocular surface region", + "brain morphology phenotype", + "absent mesoderm-derived structure in the limb", + "anatomical structure, curved phenotype", + "Hypothyroidism", + "interatrial septum perforation", + "craniocervical region", + "endocrine system phenotype", + "decreased functionality of the anatomical entity", + "decreased functionality of the material anatomical entity", + "Abnormality of thyroid physiology", + "decreased functionality of the endoderm-derived structure", + "Abnormal cornea morphology", + "gland", + "decreased functionality of the organ", + "thyroid gland phenotype", + "gland physiology phenotype", + "decreased size of the endochondral element", + "endocrine gland", + "absent radius bone", + "cranial skeletal system", + "anatomical entity dysfunction in independent continuant", + "Duodenal atresia", "Abnormality of chromosome stability", - "immaterial entity", - "abnormal size of palpebral fissure", - "abnormal nasal bridge morphology", - "Abnormal size of the palpebral fissures", - "decreased width of the anatomical entity", - "anatomical projection", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal pilosebaceous unit morphology", - "abnormal skin of body", - "regulation of cellular biosynthetic process", - "epithelium", - "system", - "snout", - "integumental system", - "integument", - "chemosensory system", - "skin of body", - "pilosebaceous unit", - "abnormal autopod region morphology", - "bone of free limb or fin", - "abnormal skin of body morphology", + "cervical vertebra morphology phenotype", + "axial skeleton plus cranial skeleton morphology phenotype", "neural crest-derived structure", - "ecto-epithelium", - "cutaneous appendage", - "skin epidermis", - "primary metabolic process", - "Abnormality of the skin", - "abnormal hematopoietic system", - "Abnormality of the dentition", - "strand of hair", - "phenotype", - "anatomical space", - "paired limb/fin", - "increased length of the strand of hair", - "immaterial anatomical entity", - "abnormal eyelash morphology", + "dorsal part of neck morphology phenotype", + "skeletal joint", + "articulation phenotype", + "Abnormal joint physiology", + "decreased length of manual digit 1 metacarpus endochondral element", + "number of anatomical enitites of type organ phenotype", + "fused skeletal joint and skeletal joint", + "vertebra morphology phenotype", + "Abnormal vertebral morphology", + "decreased number of material anatomical entity", + "articular system", + "negative regulation of biological process", + "fused anatomical entity and cervical vertebra", + "Abnormal musculoskeletal physiology", + "skeletal joint phenotype", + "skeletal joint morphology phenotype", + "absent forelimb zeugopod bone", + "Vertebral segmentation defect", + "decreased embryo development", + "musculoskeletal system phenotype", + "endoderm-derived structure phenotype", + "brain ventricle/choroid plexus", + "brain commissure", + "peptide transport", + "aplasia or hypoplasia of radius bone", + "musculoskeletal system physiology phenotype", + "metencephalon", + "fused cervical vertebra and cervical vertebra", + "incomplete closing of the multicellular anatomical structure", + "decreased qualitatively sensory perception", + "telencephalon morphology phenotype", + "brain ventricle morphology phenotype", + "brain ventricle/choroid plexus morphology phenotype", + "brain white matter", + "negative regulation of cellular process phenotype", + "Abnormal lateral ventricle morphology", + "telencephalon", + "telencephalic ventricle morphology phenotype", + "brain", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "eukaryotic cell", + "Abnormal brain morphology", + "decreased length of manual digit metacarpus endochondral element", + "artery", + "telencephalon phenotype", + "absent bone of pectoral complex in the forelimb", + "size of skull phenotype", + "regional part of brain phenotype", + "intercerebral commissure", + "Abnormal skull morphology", + "pituitary gland morphology phenotype", + "skull morphology phenotype", + "Abnormality of the outer ear", "obsolete cell", - "programmed DNA elimination", - "digestive system", - "subdivision of tube", - "Abnormality of the breast", - "abnormality of multicellular organism mass", - "Abnormal oral morphology", - "Abnormality of digestive system morphology", - "negative regulation of cellular process", - "abnormal limb", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormal cellular component organization", - "midface", - "Abnormal central motor function", - "facial skeleton", - "jaw skeleton", - "abnormal mouth morphology", - "oral cavity", - "Breast carcinoma", - "dentition", - "Thick upper lip vermilion", - "increased length of the eyelash", - "abnormal digestive system", - "Abnormality of body height", - "tube", - "subdivision of digestive tract", - "Tooth malposition", - "Short palpebral fissure", - "acropodium region", - "abnormal head", - "decreased width of the anatomical entity in independent continuant", - "integumentary adnexa", - "jaw region", - "arm", - "tooth row", - "anatomical cavity", - "regional part of nervous system", - "Abnormal midface morphology", - "prominent nasal bridge", - "Abnormality of the scalp hair", - "cellular process", - "Abnormality of the frontal hairline", - "abnormal chest", - "abnormal primary metabolic process", - "Low anterior hairline", - "Abnormality of the hairline", - "appendicular skeletal system", - "abnormal telencephalon morphology", - "Abnormality of the forehead", - "abnormal spatial pattern of strand of hair", - "abnormal hairline", - "Narrow palate", + "urinary bladder", + "material anatomical entity mass phenotype", + "bladder organ phenotype", + "external acoustic meatus morphology phenotype", + "number of anatomical enitites of type neuron projection bundle phenotype", + "Abnormality of blood and blood-forming tissues", + "external ear phenotype", + "intestine phenotype", + "Abnormal auditory canal morphology", + "Aplasia/hypoplasia of the extremities", + "external ear morphology phenotype", + "anatomical conduit phenotype", + "intestine", + "Decreased multicellular organism mass", + "incomplete closing of the arterial blood vessel", + "decreased material anatomical entity mass", + "transport phenotype", + "bone marrow cell", + "biological_process phenotype", + "upper limb segment", + "biological_process", + "multicellular organism phenotype", + "cellular process phenotype", + "forelimb zeugopod bone phenotype", + "decreased anatomical structure mass", + "aplasia or hypoplasia of manual digit", + "multicellular anatomical structure mass phenotype", + "multicellular organism mass phenotype", + "regulation of hormone levels", + "anatomical entity perforation", + "signaling", + "aplasia or hypoplasia of cranial nerve II", + "cavitated compound organ physiology phenotype", + "absent endochondral bone", + "signal release", + "growth hormone secretion", + "camera-type eye phenotype", + "peptide transport phenotype", + "secretion by cell phenotype", + "manual digit metacarpus endochondral element phenotype", + "Abnormal growth hormone level", + "anatomical entity morphology in the skeleton of pectoral complex phenotype", + "regulation of biological quality", + "Abnormality of neutrophils", + "secretion by cell", + "absent ectoderm-derived structure in the brain", + "peptide secretion phenotype", + "export from cell phenotype", + "trunk or cervical vertebra phenotype", + "chemical entity", "biological regulation", "Global developmental delay", - "biological_process", - "abnormal chest morphology", - "trunk", - "Abnormal breast morphology", - "breast", - "abnormal breast morphology", - "Atypical behavior", - "Neoplasm of the breast", - "abnormal breast", - "abnormal skin of head morphology", - "Ovarian carcinoma", - "naris", - "Abnormality of upper lip vermillion", - "limb bone", - "Thick vermilion border", - "Abnormal lip morphology", - "abnormal lip morphology", - "Abnormality of the genitourinary system", - "blood cell", - "lip", - "Abnormal hair quantity", - "abnormal appendicular skeleton morphology", - "external soft tissue zone", - "digit plus metapodial segment", - "subdivision of organism along appendicular axis", - "limb segment", - "abnormal digit morphology", - "digit", - "bone element", - "skull", - "limb skeleton subdivision", - "appendicular skeleton", - "anatomical conduit", - "abnormal limb morphology", - "bone of appendage girdle complex", - "mesoderm-derived structure", - "limb endochondral element", - "digitopodium region", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal erythrocyte morphology", - "myeloid cell", - "Abnormal erythroid lineage cell morphology", - "hematopoietic cell", - "oxygen accumulating cell", - "abnormal myeloid cell morphology", - "Deviation of the hand or of fingers of the hand", - "abnormal calcareous tooth morphology", - "abnormal erythroid lineage cell morphology", - "abnormal hematopoietic cell morphology", - "external nose", - "abnormal integumentary adnexa morphology", - "changed biological_process rate", - "abnormality of anatomical entity mass", - "Aplasia/Hypoplasia involving the central nervous system", - "decreased multicellular organism mass", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "aplasia or hypoplasia of telencephalon", - "Abnormality of body weight", - "growth", - "negative regulation of biological process", - "Failure to thrive", - "Decreased multicellular organism mass", - "abnormal number of anatomical enitites of type anatomical entity", - "appendage girdle complex", - "subdivision of head", - "abnormal number of anatomical enitites of type strand of hair", - "decreased qualitatively response to stimulus", - "deviation of anatomical entity", - "Ataxia" + "abdominal segment of trunk", + "Aplasia/Hypoplasia of the optic nerve", + "localization", + "number of anatomical enitites of type neutrophil phenotype", + "manus phenotype", + "peptide hormone secretion", + "regulation of hormone levels phenotype", + "amide transport phenotype", + "establishment of localization phenotype", + "Abnormality of the lower urinary tract", + "Abnormal circulating hormone concentration", + "Abnormal forearm morphology", + "posterior segment of eyeball morphology phenotype", + "export from cell", + "cell communication", + "hormone transport", + "Ventricular septal defect", + "small intestine", + "secretion", + "size of eyeball of camera-type eye phenotype", + "Abnormal gastrointestinal tract morphology", + "Aplasia/Hypoplasia affecting the eye", + "blood", + "anatomical cluster", + "absent anatomical entity in the multicellular organism", + "Microphthalmia", + "absent anatomical entity", + "decreased size of the eyeball of camera-type eye", + "absent skeletal element", + "Hearing abnormality", + "Abnormal metencephalon morphology", + "decreased length of metapodium bone", + "closing of the organ part", + "anatomical entity morphology in the brain phenotype", + "formed multicellular anatomical structure", + "formed anatomical structure", + "absent anatomical structure in the brain", + "hindbrain morphology phenotype", + "Abnormal nervous system morphology", + "cerebellum", + "external acoustic meatus", + "cerebellum phenotype", + "brain commissure morphology phenotype", + "cranial nerve II phenotype", + "Aplasia/Hypoplasia affecting the fundus", + "Optic nerve hypoplasia", + "multi cell part structure phenotype", + "cranial nerve II hypoplasia", + "Functional abnormality of the middle ear", + "nervous system physiology phenotype", + "Neurodevelopmental abnormality", + "Neurodevelopmental delay", + "multicellular anatomical structure physiology phenotype", + "negative regulation of macromolecule metabolic process phenotype", + "regulation of cellular process", + "programmed DNA elimination by chromosome breakage", + "negative regulation of gene expression phenotype", + "regulation of cellular process phenotype", + "homeostatic process", + "paired limb/fin", + "Chromosome breakage", + "trunk region element phenotype", + "absent limb endochondral element in the forelimb", + "regulation of cellular biosynthetic process", + "Abnormal cardiac septum morphology", + "metabolic process", + "programmed DNA elimination by chromosome breakage phenotype", + "negative regulation of cellular process", + "arm phenotype", + "regulation of cellular metabolic process", + "ectoderm-derived structure phenotype", + "regulation of biosynthetic process", + "Chromosomal breakage induced by crosslinking agents", + "regulation of macromolecule metabolic process", + "trunk region element physiology phenotype", + "bladder organ", + "renal/urinary system phenotype", + "Abnormality of the upper urinary tract", + "sac physiology phenotype", + "renal system phenotype", + "decreased length of metacarpal bone of digit 1", + "Abnormal cardiovascular system morphology", + "subdivision of organism along appendicular axis phenotype", + "cavitated compound organ phenotype", + "viscus physiology phenotype", + "multicellular anatomical structure", + "hematopoietic system", + "ureter phenotype", + "Vesicoureteral reflux", + "compound organ phenotype", + "excretory tube phenotype", + "non-connected functional system", + "lower urinary tract phenotype", + "musculoskeletal system", + "Short neck", + "abdominal segment element", + "manual digit 1 phalanx endochondral element", + "excretory tube", + "Limb undergrowth", + "genitourinary system" ], - "has_phenotype_count": 30, + "has_phenotype_count": 44, "highlight": null, "score": null } diff --git a/frontend/src/api/model.ts b/frontend/src/api/model.ts index e2c4be73d..93533c67b 100644 --- a/frontend/src/api/model.ts +++ b/frontend/src/api/model.ts @@ -1,3 +1,5 @@ +export type TermInfoId = string; +export type BestMatchMatchSource = string; export type AssociationId = string; export type DirectionalAssociationId = string; export type ExpandedCurieId = string; @@ -8,8 +10,6 @@ export type MappingId = string; export type MultiEntityAssociationResultsId = string; export type NodeId = string; export type SearchResultId = string; -export type TermInfoId = string; -export type BestMatchMatchSource = string; /** * The directionality of an association as it relates to a specified entity, with edges being categorized as incoming or outgoing */ @@ -22,6 +22,91 @@ export enum AssociationDirectionEnum { }; +/** + * Abstract grouping for representing individual pairwise similarities + */ +export interface PairwiseSimilarity { +} + + +/** + * A simple pairwise similarity between two atomic concepts/terms + */ +export interface TermPairwiseSimilarity extends PairwiseSimilarity { + subject_id: string, + /** The name of the subject entity */ + subject_label?: string, + /** the source for the first entity */ + subject_source?: string, + object_id: string, + /** The name of the object entity */ + object_label?: string, + /** the source for the second entity */ + object_source?: string, + /** the most recent common ancestor of the two compared entities. If there are multiple MRCAs then the most informative one is selected */ + ancestor_id?: string, + /** the name or label of the ancestor concept */ + ancestor_label?: string, + ancestor_source?: string, + /** The IC of the object */ + object_information_content?: number, + /** The IC of the subject */ + subject_information_content?: number, + /** The IC of the object */ + ancestor_information_content?: number, + /** The number of concepts in the intersection divided by the number in the union */ + jaccard_similarity?: number, + /** the dot product of two node embeddings divided by the product of their lengths */ + cosine_similarity?: number, + dice_similarity?: number, + /** the geometric mean of the jaccard similarity and the information content */ + phenodigm_score?: number, +} + + +/** + * A simple pairwise similarity between two sets of concepts/terms + */ +export interface TermSetPairwiseSimilarity extends PairwiseSimilarity { + subject_termset?: {[index: TermInfoId]: TermInfo }, + object_termset?: {[index: TermInfoId]: TermInfo }, + subject_best_matches?: {[index: BestMatchMatchSource]: BestMatch }, + object_best_matches?: {[index: BestMatchMatchSource]: BestMatch }, + average_score?: number, + best_score?: number, + metric?: string, +} + + + +export interface TermInfo { + id: string, + label?: string, +} + + + +export interface BestMatch { + match_source: string, + match_source_label?: string, + /** the entity matches */ + match_target?: string, + match_target_label?: string, + score: number, + match_subsumer?: string, + match_subsumer_label?: string, + similarity: TermPairwiseSimilarity, +} + + + +export interface SemsimSearchResult { + subject: Entity, + score?: number, + similarity?: TermSetPairwiseSimilarity, +} + + export interface Association { id: string, @@ -150,32 +235,43 @@ export interface Association { stage_qualifier_closure?: string[], /** Field containing stage_qualifier name and the names of all of it's ancestors */ stage_qualifier_closure_label?: string[], -}; + /** A context qualifier representing a disease or condition in which a relationship expressed in an association took place. */ + disease_context_qualifier?: string, + /** The name of the disease_context_qualifier entity */ + disease_context_qualifier_label?: string, + /** The namespace/prefix of the disease_context_qualifier entity */ + disease_context_qualifier_namespace?: string, + /** The category of the disease_context_qualifier entity */ + disease_context_qualifier_category?: string, + /** Field containing disease_context_qualifier id and the ids of all of it's ancestors */ + disease_context_qualifier_closure?: string[], + /** Field containing disease_context_qualifier name and the names of all of it's ancestors */ + disease_context_qualifier_closure_label?: string[], +} + + export interface AssociationCount extends FacetValue { category?: string, - label: string, - /** count of documents */ - count?: number, -}; +} + + /** * Container class for a list of association counts */ export interface AssociationCountList { /** A collection of items, with the type to be overriden by slot_usage */ items: AssociationCount[], -}; +} + + export interface AssociationResults extends Results { /** A collection of items, with the type to be overriden by slot_usage */ items: Association[], - /** number of items to return in a response */ - limit: number, - /** offset into the total number of items */ - offset: number, - /** total number of items matching a query */ - total: number, -}; +} + + export interface CompactAssociation { category?: string, @@ -187,29 +283,23 @@ export interface CompactAssociation { /** The name of the object entity */ object_label?: string, negated?: boolean, -}; +} + + export interface CompactAssociationResults extends Results { /** A collection of items, with the type to be overriden by slot_usage */ items: CompactAssociation[], - /** number of items to return in a response */ - limit: number, - /** offset into the total number of items */ - offset: number, - /** total number of items matching a query */ - total: number, -}; +} + + export interface AssociationTableResults extends Results { /** A collection of items, with the type to be overriden by slot_usage */ items: DirectionalAssociation[], - /** number of items to return in a response */ - limit: number, - /** offset into the total number of items */ - offset: number, - /** total number of items matching a query */ - total: number, -}; +} + + /** * A data class to hold the necessary information to produce association type counts for given entities with appropriate directional labels */ @@ -222,160 +312,36 @@ export interface AssociationTypeMapping { symmetric: boolean, /** The biolink category to use in queries for this association type */ category: string, -}; +} + + export interface CategoryGroupedAssociationResults extends Results { /** The category of the counterpart entity in a given association, eg. the category of the entity that is not the subject */ counterpart_category?: string, /** A collection of items, with the type to be overriden by slot_usage */ items: Association[], - /** number of items to return in a response */ - limit: number, - /** offset into the total number of items */ - offset: number, - /** total number of items matching a query */ - total: number, -}; +} + + /** * An association that gives it's direction relative to a specified entity */ export interface DirectionalAssociation extends Association { /** The directionality of the association relative to a given entity for an association_count. If the entity is the subject or in the subject closure, the direction is forwards, if it is the object or in the object closure, the direction is backwards. */ direction: string, - id: string, - category?: string, - subject: string, - original_subject?: string, - /** The namespace/prefix of the subject entity */ - subject_namespace?: string, - /** The category of the subject entity */ - subject_category?: string, - /** Field containing subject id and the ids of all of it's ancestors */ - subject_closure?: string[], - /** The name of the subject entity */ - subject_label?: string, - /** Field containing subject name and the names of all of it's ancestors */ - subject_closure_label?: string[], - subject_taxon?: string, - subject_taxon_label?: string, - predicate: string, - object: string, - original_object?: string, - /** The namespace/prefix of the object entity */ - object_namespace?: string, - /** The category of the object entity */ - object_category?: string, - /** Field containing object id and the ids of all of it's ancestors */ - object_closure?: string[], - /** The name of the object entity */ - object_label?: string, - /** Field containing object name and the names of all of it's ancestors */ - object_closure_label?: string[], - object_taxon?: string, - object_taxon_label?: string, - primary_knowledge_source?: string, - aggregator_knowledge_source?: string[], - negated?: boolean, - pathway?: string, - /** count of supporting documents, evidence codes, and sources supplying evidence */ - evidence_count?: number, - /** Describes the level of knowledge expressed in a statement, based on the reasoning or analysis methods used to generate the statement, or the scope or specificity of what the statement expresses to be true. */ - knowledge_level: string, - /** Describes the high-level category of agent who originally generated a statement of knowledge or other type of information. */ - agent_type: string, - has_evidence?: string[], - /** List of ExpandedCuries with id and url for evidence */ - has_evidence_links?: ExpandedCurie[], - /** count of out of has_total representing a frequency */ - has_count?: number, - /** total, devided by has_count, representing a frequency */ - has_total?: number, - /** percentage, which may be calculated from has_count and has_total, as 100 * quotient or provided directly, rounded to the integer level */ - has_percentage?: number, - /** quotient, which should be 1/100 of has_percentage */ - has_quotient?: number, - /** A concatenation of fields used to group associations with the same essential/defining properties */ - grouping_key?: string, - provided_by?: string, - /** A link to the docs for the knowledge source that provided the node/edge. */ - provided_by_link?: ExpandedCurie, - publications?: string[], - /** List of ExpandedCuries with id and url for publications */ - publications_links?: ExpandedCurie[], - frequency_qualifier?: string, - onset_qualifier?: string, - sex_qualifier?: string, - stage_qualifier?: string, - qualifiers?: string[], - /** The name of the frequency_qualifier entity */ - qualifiers_label?: string, - /** The namespace/prefix of the frequency_qualifier entity */ - qualifiers_namespace?: string, - /** The category of the frequency_qualifier entity */ - qualifiers_category?: string, - /** Field containing frequency_qualifier id and the ids of all of it's ancestors */ - qualifiers_closure?: string[], - /** Field containing frequency_qualifier name and the names of all of it's ancestors */ - qualifiers_closure_label?: string[], - qualifier?: string[], - /** The name of the frequency_qualifier entity */ - qualifier_label?: string, - /** The namespace/prefix of the frequency_qualifier entity */ - qualifier_namespace?: string, - /** The category of the frequency_qualifier entity */ - qualifier_category?: string, - /** Field containing frequency_qualifier id and the ids of all of it's ancestors */ - qualifier_closure?: string[], - /** Field containing frequency_qualifier name and the names of all of it's ancestors */ - qualifier_closure_label?: string[], - /** The name of the frequency_qualifier entity */ - frequency_qualifier_label?: string, - /** The namespace/prefix of the frequency_qualifier entity */ - frequency_qualifier_namespace?: string, - /** The category of the frequency_qualifier entity */ - frequency_qualifier_category?: string, - /** Field containing frequency_qualifier id and the ids of all of it's ancestors */ - frequency_qualifier_closure?: string[], - /** Field containing frequency_qualifier name and the names of all of it's ancestors */ - frequency_qualifier_closure_label?: string[], - /** The name of the onset_qualifier entity */ - onset_qualifier_label?: string, - /** The namespace/prefix of the onset_qualifier entity */ - onset_qualifier_namespace?: string, - /** The category of the onset_qualifier entity */ - onset_qualifier_category?: string, - /** Field containing onset_qualifier id and the ids of all of it's ancestors */ - onset_qualifier_closure?: string[], - /** Field containing onset_qualifier name and the names of all of it's ancestors */ - onset_qualifier_closure_label?: string[], - /** The name of the sex_qualifier entity */ - sex_qualifier_label?: string, - /** The namespace/prefix of the sex_qualifier entity */ - sex_qualifier_namespace?: string, - /** The category of the sex_qualifier entity */ - sex_qualifier_category?: string, - /** Field containing sex_qualifier id and the ids of all of it's ancestors */ - sex_qualifier_closure?: string[], - /** Field containing sex_qualifier name and the names of all of it's ancestors */ - sex_qualifier_closure_label?: string[], - /** The name of the stage_qualifier entity */ - stage_qualifier_label?: string, - /** The namespace/prefix of the stage_qualifier entity */ - stage_qualifier_namespace?: string, - /** The category of the stage_qualifier entity */ - stage_qualifier_category?: string, - /** Field containing stage_qualifier id and the ids of all of it's ancestors */ - stage_qualifier_closure?: string[], - /** Field containing stage_qualifier name and the names of all of it's ancestors */ - stage_qualifier_closure_label?: string[], -}; +} + + /** * A curie bundled along with its expanded url */ export interface ExpandedCurie { id: string, url?: string, -}; +} + + /** * Represents an Entity in the Monarch KG data model */ @@ -411,43 +377,46 @@ export interface Entity { has_phenotype_closure_label?: string[], /** A count of the number of phenotypes that are known to be associated with this entity */ has_phenotype_count?: number, -}; +} + + export interface EntityResults extends Results { /** A collection of items, with the type to be overriden by slot_usage */ items: Entity[], - /** number of items to return in a response */ - limit: number, - /** offset into the total number of items */ - offset: number, - /** total number of items matching a query */ - total: number, -}; +} + + export interface FacetValue { label: string, /** count of documents */ count?: number, -}; +} + + export interface FacetField { label: string, /** Collection of FacetValue label/value instances belonging to a FacetField */ facet_values?: FacetValue[], -}; +} + + export interface HistoPheno { id: string, /** A collection of items, with the type to be overriden by slot_usage */ items: HistoBin[], -}; +} + + export interface HistoBin extends FacetValue { id: string, - label: string, - /** count of documents */ - count?: number, -}; +} + + /** * A minimal class to hold a SSSOM mapping */ @@ -461,32 +430,26 @@ export interface Mapping { object_label?: string, mapping_justification?: string, id: string, -}; +} + + /** * SSSOM Mappings returned as a results collection */ export interface MappingResults extends Results { /** A collection of items, with the type to be overriden by slot_usage */ items: Mapping[], - /** number of items to return in a response */ - limit: number, - /** offset into the total number of items */ - offset: number, - /** total number of items matching a query */ - total: number, -}; +} + + export interface MultiEntityAssociationResults extends Results { id: string, name?: string, associated_categories: CategoryGroupedAssociationResults[], - /** number of items to return in a response */ - limit: number, - /** offset into the total number of items */ - offset: number, - /** total number of items matching a query */ - total: number, -}; +} + + /** * UI container class extending Entity with additional information */ @@ -508,39 +471,16 @@ export interface Node extends Entity { provided_by_link?: ExpandedCurie, association_counts: AssociationCount[], node_hierarchy?: NodeHierarchy, - id: string, - category?: string, - name?: string, - /** The long form name of an entity */ - full_name?: string, - /** A boolean flag indicating that an entity is no longer considered current or valid. */ - deprecated?: boolean, - description?: string, - xref?: string[], - provided_by?: string, - symbol?: string, - synonym?: string[], - /** The URI of the entity */ - uri?: string, - iri?: string, - /** The namespace/prefix portion of this entity's identifier */ - namespace?: string, - /** A list of phenotype identifiers that are known to be associated with this entity */ - has_phenotype?: string[], - /** A list of phenotype labels that are known to be associated with this entity */ - has_phenotype_label?: string[], - /** A list of phenotype identifiers that are known to be associated with this entity expanded to include all ancestors */ - has_phenotype_closure?: string[], - /** A list of phenotype labels that are known to be associated with this entity expanded to include all ancestors */ - has_phenotype_closure_label?: string[], - /** A count of the number of phenotypes that are known to be associated with this entity */ - has_phenotype_count?: number, -}; +} + + export interface NodeHierarchy { super_classes: Entity[], sub_classes: Entity[], -}; +} + + /** * A class to hold information about a release of the Monarch KG */ @@ -554,7 +494,9 @@ export interface Release { metadata?: string, graph_stats?: string, qc_report?: string, -}; +} + + export interface Results { /** number of items to return in a response */ @@ -563,44 +505,17 @@ export interface Results { offset: number, /** total number of items matching a query */ total: number, -}; +} + + export interface SearchResult extends Entity { /** matching text snippet containing html tags */ highlight?: string, score?: number, - id: string, - category: string, - name: string, - /** The long form name of an entity */ - full_name?: string, - /** A boolean flag indicating that an entity is no longer considered current or valid. */ - deprecated?: boolean, - description?: string, - xref?: string[], - provided_by?: string, - /** The biolink taxon that the entity is in the closure of. */ - in_taxon?: string, - /** The label of the biolink taxon that the entity is in the closure of. */ - in_taxon_label?: string, - symbol?: string, - synonym?: string[], - /** The URI of the entity */ - uri?: string, - iri?: string, - /** The namespace/prefix portion of this entity's identifier */ - namespace?: string, - /** A list of phenotype identifiers that are known to be associated with this entity */ - has_phenotype?: string[], - /** A list of phenotype labels that are known to be associated with this entity */ - has_phenotype_label?: string[], - /** A list of phenotype identifiers that are known to be associated with this entity expanded to include all ancestors */ - has_phenotype_closure?: string[], - /** A list of phenotype labels that are known to be associated with this entity expanded to include all ancestors */ - has_phenotype_closure_label?: string[], - /** A count of the number of phenotypes that are known to be associated with this entity */ - has_phenotype_count?: number, -}; +} + + export interface SearchResults extends Results { /** A collection of items, with the type to be overriden by slot_usage */ @@ -609,13 +524,9 @@ export interface SearchResults extends Results { facet_fields?: FacetField[], /** Collection of facet query responses with the query string values and counts */ facet_queries?: FacetValue[], - /** number of items to return in a response */ - limit: number, - /** offset into the total number of items */ - offset: number, - /** total number of items matching a query */ - total: number, -}; +} + + export interface TextAnnotationResult { /** text without tokens */ @@ -626,78 +537,7 @@ export interface TextAnnotationResult { start?: number, /** end position of the annotation */ end?: number, -}; -/** - * Abstract grouping for representing individual pairwise similarities - */ -export interface PairwiseSimilarity { -}; -/** - * A simple pairwise similarity between two atomic concepts/terms - */ -export interface TermPairwiseSimilarity extends PairwiseSimilarity { - subject_id: string, - /** The name of the subject entity */ - subject_label?: string, - /** the source for the first entity */ - subject_source?: string, - object_id: string, - /** The name of the object entity */ - object_label?: string, - /** the source for the second entity */ - object_source?: string, - /** the most recent common ancestor of the two compared entities. If there are multiple MRCAs then the most informative one is selected */ - ancestor_id?: string, - /** the name or label of the ancestor concept */ - ancestor_label?: string, - ancestor_source?: string, - /** The IC of the object */ - object_information_content?: number, - /** The IC of the subject */ - subject_information_content?: number, - /** The IC of the object */ - ancestor_information_content?: number, - /** The number of concepts in the intersection divided by the number in the union */ - jaccard_similarity?: number, - /** the dot product of two node embeddings divided by the product of their lengths */ - cosine_similarity?: number, - dice_similarity?: number, - /** the geometric mean of the jaccard similarity and the information content */ - phenodigm_score?: number, -}; -/** - * A simple pairwise similarity between two sets of concepts/terms - */ -export interface TermSetPairwiseSimilarity extends PairwiseSimilarity { - subject_termset?: {[index: TermInfoId]: TermInfo }, - object_termset?: {[index: TermInfoId]: TermInfo }, - subject_best_matches?: {[index: BestMatchMatchSource]: BestMatch }, - object_best_matches?: {[index: BestMatchMatchSource]: BestMatch }, - average_score?: number, - best_score?: number, - metric?: string, -}; +} -export interface TermInfo { - id: string, - label?: string, -}; -export interface BestMatch { - match_source: string, - match_source_label?: string, - /** the entity matches */ - match_target?: string, - match_target_label?: string, - score: number, - match_subsumer?: string, - match_subsumer_label?: string, - similarity: TermPairwiseSimilarity, -}; - -export interface SemsimSearchResult { - subject: Entity, - score?: number, - similarity?: TermSetPairwiseSimilarity, -}; diff --git a/frontend/src/api/phenotype-explorer.ts b/frontend/src/api/phenotype-explorer.ts index 2c3c37a02..38597aa36 100644 --- a/frontend/src/api/phenotype-explorer.ts +++ b/frontend/src/api/phenotype-explorer.ts @@ -43,7 +43,7 @@ export const getPhenotypes = async (search = ""): ReturnType => { * if gene/disease, provide function to get associated phenotypes upon * select */ - item.category.startsWith("biolink:Pheno") + item.category?.startsWith("biolink:Pheno") ? undefined : async () => await getPhenotypeAssociations(item.id), highlight: item.highlight, diff --git a/frontend/src/pages/explore/TabSearch.vue b/frontend/src/pages/explore/TabSearch.vue index cc853888f..8f9e878e9 100644 --- a/frontend/src/pages/explore/TabSearch.vue +++ b/frontend/src/pages/explore/TabSearch.vue @@ -240,7 +240,7 @@ async function runGetAutocomplete( viewAll, ...(await getAutocomplete(search)).items.map((item) => ({ id: item.id, - label: item.name, + label: item.name || "", info: item.in_taxon_label || item.id, icon: getCategoryIcon(item.category), tooltip: "",